Medicine has entered the brave new world of precision medicine, and many of Kansas City’s healthcare institutions are at the forefront.

What is precision medicine? A personalized approach to care where treatments are specifically tailored to the patient using advanced technology. Here in KC, researchers are using advances in genomics, molecular biology, artificial intelligence and advanced imaging to identify the right treatment for the right patient at the right time—particularly in diseases such as cancer, where therapies can precisely target a tumor’s genetic drivers. 

“It’s such a great time to be in medicine and particularly in cancer medicine because there’s so much going on,” says Dr. Jeffrey Holzbeierlein. He leads a research team at KU Medical Center studying the causes and novel chemotherapeutic drug treatments for prostate and bladder cancer. Holzbeierlein’s lab has screened more than 1,000 drug compounds, all created at KU, with several moving into clinical trials. “I think as a physician who has been here for 24 years, seeing things that didn’t move along for 10 or 15 years, that’s finally changed,” he says. “Within the last few years, the number of new therapies that have come out are changing the face of cancer. It is really quite remarkable.”

These innovations are not just happening in a silo at one area healthcare center; they are coming together via a healthcare innovation corridor where data analytics and clinical trial results are shared among doctors and researchers at KU Medical Center, Children’s Mercy Kansas City, UMKC and Stowers Institute for Medical Research. 

In a public-private collaboration announced in February, the University of Kansas Health System, KU Medical Center and Children’s Mercy, working with Bold Advanced Medical Future Health based in Grand Rapids, Michigan, will establish one of the country’s first fully integrated theranostics platforms for adults and kids, bringing together radiopharmaceutical production, molecular imaging, radiopharmaceutical therapy and various clinical trials. 

Scott Younger is the director of disease gene engineering within the Genomic Medicine Center at Children’s Mercy Hospital. He is doing a lot of work with organoids models, which are tiny 3D tissue cultures ranging in size from the width of a hair to five millimeters. They are made from stem cells, which can be manipulated to resemble miniature lab-grown human body organs. Drug therapies can be tested in a petri dish instead of the organ inside a living human patient.

Researchers have been able to produce organoids that resemble the brain, kidney, lung, intestine, stomach, liver and more. Each organoid is used to see how drugs interact with a particular organ. “They’re real complex little balls of cells that you can grow in a dish,” Younger says. “If we grow neuronal organoids or brain organoids in a dish, we see that those manifest phenotypes (the physical traits of an organism) that are representative of diseases. We are spending a lot of our focus now on epilepsy.”

The work being done by Steven Leeder, senior vice president and chief scientific officer at Children’s Mercy Kansas City, complements Younger’s work to identify the best treatments. 

“You start off with the medication that perhaps you’re most familiar with,” Leeder says. “Invariably, not everybody responds to the same medication in the same way, even getting the same dose. So using organoids as Scott described it is one of the ways where we can start to get at which of a series of choices might be the best for a particular patient. The essential question comes down to, ‘Why is it that you can take a group of teens with depression, let’s say, and give them Prozac according to the FDA guidelines, and some kids will respond, and some kids may not?’ So we want to get to what underlies the variability in the response.”

Read the full article via Kansas City Magazine

The Children's Mercy Research Institute

PRESS RELEASE: The University of Kansas Health System, University of Kansas Medical Center, Children’s Mercy and BAMF Health To Develop Fully Integrated Destination Theranostic Research and Treatment Center

Nature publishes transformative Children's Mercy Research Institute study

Hosted at the Children’s Mercy Research Institute, the event highlighted the hospital’s commitment to excellence in the areas of graduate medical education, translational research, connective tissue disorders, pediatric orthopedic surgery, radiology research, pediatric molecular oncology and cancer immunotherapy. These achievements are made possible through visionary philanthropic support.

2026 Honorees

• Brenda Rogers, MD 
  Dr. Sidney F. Pakula Endowed Chair in Graduate Medical Education
  
   
• Jordan Jones, DO, MS, FAAP, FACR
  Underdown Yeomans Family Endowed Professorship in Connective Tissue Disorders Care
  
   
• Kathryn Keeler, MD
  Dr. Brad and Dawn Olney Chair in Pediatric Orthopedic Surgery
  
   
• Sherwin Chan, MD, PhD
  Gallagher Family Endowed Professorship in Excellence
  
   
• Tomoo Iwakuma, MD, PhD
  Braden’s Hope for Childhood Cancer Endowed Chair in Pediatric Molecular Oncology
  
   
• Yong Li, PhD
  Paul and Linda DeBruce Endowed Chair in Cancer Immunotherapy

As the hospital continues to expand its academic profile, endowed faculty positions remain central to its legacy of providing the best possible and highest quality care to all children when they need it most.

These appointments provide talented clinicians, researchers and educators with the protected time and resources needed to lead, innovate and mentor the next generation of pediatric medicine. In an increasingly competitive academic environment, endowed positions also play a critical role in recruiting and retaining world-class talent.

For a nonprofit teaching hospital, endowed positions are far more than a title. They are transformative investments in patients, faculty and the future of children’s health.

“These recognize not only past achievement, but future promise, and they provide enduring support for work that advances our mission across clinical care, education, research and discovery,” said Steve Leeder, PharmD, PhD, Senior Vice President and Chief Scientific Officer.

The ceremony also recognized the generous donors whose support established and sustains these endowed appointments. Their enduring commitment helps Children's Mercy remain a leader in pediatric care, research and education for children and families across the region.

• The Louis H. Gross Foundation, Inc. Dr. Lawrence Pakula, a Director
• Kim and Rod Underdown and the Underdown and Yeomans Family
• Dr. Brad and Dawn Olney
• The Diane and Terrence Gallagher Family
• Braden’s Hope for Childhood Cancer
• Paul and Linda Debruce
   

Learn more about the honorees and donors at childrensmercy.org.

At 21 weeks pregnant with their first child, Reese, Taylor and Caleb Jeter received life-changing news: their unborn daughter had fetal heart block, a rare condition that disrupts the heart’s electrical system and can cause a dangerously slow heartbeat.

Living overseas at the time, the family was referred to Children's Mercy, where a multidisciplinary team of specialists came together to guide them through the remainder of the pregnancy and prepare for Reese’s complex care needs after birth.

Through careful monitoring and coordinated care, Reese was safely delivered and underwent surgery shortly after birth to support her heart. Along the way, the Jeters developed deep trust in the experts at Children’s Mercy who cared for both their daughter and their family.

After Reese’s diagnosis, Taylor learned she had Sjögren’s disease, an autoimmune condition that can increase the risk of fetal heart block during pregnancy. So, when the couple learned they were expecting a second child, Tate, they worked closely with their medical team and hoped for a different outcome.

See the full story via KCTV 5

The Ward Family Heart Center at Children's Mercy

​As the 2026 FIFA World Cup brings millions of fans to cities across North America, hospitals have had to prepare for more than an influx of visitors. Large events place added demands on emergency departments and require health systems to prepare for potential mass-casualty incidents, infectious disease threats and other public health challenges.​

Dr. Jennifer Watts, vice president and associate chief medical officer of acute care and inpatient services at Children's Mercy in Kansas City, and Bree Bush, general manager for Command Center and CareIntellect at GE HealthCare, sat down with MobiHealthNews to discuss how Children's Mercy used technology to prepare for one of the world's biggest sporting events.

MobiHealthNews: What is it about large events like the World Cup that causes an increase in emergency room visits?

Dr. Jennifer Watts: Anytime you have any of the large event gatherings like this, you have an influx of people into the city.

Just because you travel to certain places doesn't mean you stop getting sick, and people still get hurt, and people still have appendicitis, and people still have all the same things that they normally have on a day-to-day basis.

So, when we increase the population volume, our healthcare needs to increase in order to match that for acute injuries; things that happen every day, they're just also now happening more frequently with more people.

You also have the risk of other things happening too that come as a result of having large gatherings. You always think about bringing in people from other countries too; that raises your risk for infectious disease, increases your risk of communicable disease and other things that come that people in the U.S. may not be used to seeing.

And then also anytime we have celebrations, anytime we have large event gatherings, you also have a risk of civil unrest, and when that occurs, you have potential for significant issues in the population at that gathering, which also stresses the healthcare environments.

Read the full article via MobiHealth News

Read part 2 of the Q&A

Whenever crowds gather for major events, a host city inherits more than the event itself—it inherits the safety, health and care of those who arrive. As thousands of people fill venues and the streets around them, the hospitals nearby become part of the event. The World Health Organization notes that such mass gatherings “can pose public health risks and strain the public health resources” of the hosting community, and a recent report found spikes in emergency visits for up to 12 hours after such events. With elevated heat risk across 14 of the 16 2026 FIFA World Cup host cities, further exacerbating the possibility of hospital admissions, coupled with an influx of international travelers possibly introducing pathogens, hospitals and healthcare leaders must be prepared.

Few people understand the convergence of risk better than Dr. Jennifer Watts. As the Associate Chief Medical Officer—Acute Care and Inpatient Services at Children’s Mercy in Kansas City—one of the top children’s hospitals in the United States—she has spent her career caring for patients and preparing for the improbable, yet possible, including days when events can take a turn for the worse. Preparedness, she says, is not a plan that sits on a shelf, but a trained discipline. “We must understand the possible impacts and anticipate what can go wrong in advance, to properly mitigate risks the day of. As healthcare leaders, we must be able to swiftly react to what has occurred and properly lead through it to make sure people are receiving the proper level of care.”

Read the full article via GE HealthCare

Kansas hospitals are creating mobile maternal health clinics and using AI to prevent chronic illness in kids with new federal grant money aimed at increasing healthcare access to rural residents.

The Rural Health Transformation Program is a five-year federal initiative signed into law by President Donald Trump. Part of its purpose is to soften the blow of Medicaid cuts proposed by the administration and approved by Congress. Kansas received $221 million dollars for its first year.

Although some rural hospitals say the money won’t completely offset what they lose from Trump’s Medicaid cuts, they’re grateful for it. They say rural hospitals need system changes and more funding at state and federal levels to be sustainable.

Children’s Mercy 

Kansas City-based Children’s Mercy, which also has locations in Kansas, won $6 million, more than any other grantee this round. The hospital wants to leverage AI to improve care for pediatric chronic illnesses, including type 1 diabetes and asthma. The plan is to partner with the Community Health Center of Southeast Kansas, the University of Kansas Health System’s Great Bend campus and Logan County Health Services.

Dr. J.B. Le Pichon with Children’s Mercy said they’ll use the money to implement AI-driven technology in rural Kansas that screens for chronic diseases in children. The technology can alert providers if kids are at higher risk of developing a chronic illness so they can focus on prevention.

“We want to really make sure we bring that innovative care to all of the children of Kansas, focusing on equity,” Le Pichon said.

Read the full article via KCUR

Children's Mercy locations

He will also serve as the inaugural holder of the Paul and Linda DeBruce Endowed Chair in Cancer Immunotherapy, established through the generosity of the DeBruces, longtime supporters of Children’s Mercy. 

The Molecular Oncology & Cellular Therapeutics division will focus on advancing new treatment options for children with cancer, while also exploring emerging therapies that could benefit children with autoimmune diseases and complications related to transplants. The goal is simple but powerful: move promising research more quickly from the laboratory to the bedside, where it can make a meaningful difference for children and families. 

In this new role, Dr. Li will help expand Children’s Mercy’s ability to offer innovative cellular and immunotherapy treatments and strengthen its partnership with the University of Kansas Cancer Center. This collaboration supports faster progress in pediatric research and helps ensure children have access to leading-edge therapies close to home.   

“Breakthroughs in cancer treatment are advancing rapidly, particularly in immunotherapy and cellular therapeutics,” said Steve Leeder, Ph.D., PharmD, Senior Vice President and Chief Scientific Officer, Children’s Mercy. “Dr. Li’s leadership will help ensure children benefit from these innovations.”  

Dr. Li is an internationally recognized scientist with deep expertise in cancer biology, cell-based treatment development and the use of artificial intelligence to accelerate drug discovery. He most recently served as a professor and Cancer Prevention and Research Institute of Texas Scholar at Baylor College of Medicine, where he also led Molecular Epidemiology. 

His research brings together molecular, cellular and computational science, including artificial intelligence, to identify new treatment targets and develop biologic therapies for cancer and other serious diseases. Dr. Li currently leads one of a small number of National Cancer Institute‑funded U54 Cancer Prevention‑Interception Centers focused on advancing precision medicines. 

Supported by multiple National Institutes of Health grants, Dr. Li has served as principal investigator on research exploring PD‑L1 biology, p53‑directed therapies and computational drug development. His career includes leadership roles at Baylor College of Medicine, Cleveland Clinic and the University of Louisville, as well as postdoctoral training at Yale University with Nobel laureate Dr. Sidney Altman. He has earned national and international recognition for his work, including election as a Fellow of the American Association for the Advancement of Science. 

“Children’s Mercy offers world-class clinical care and a strong research foundation,” Li said. “I look forward to leveraging these strengths to advance innovative therapies and bring new hope to children and families facing cancer.”  

Kansas City hospitals said they are prepared for the influx of international patients expected this summer during the World Cup. But they worry that the patients may not be ready for America’s labyrinthine healthcare system.

In addition to bulking up translation services and scheduling more doctors and nurses for shifts during the monthlong tournament, hospitals said they’re focused on communication to help international visitors understand that getting care here isn’t as simple as it may be back home.

“All of our health systems have been working together to share information about how to best work with and take care of patients coming from single-payer countries,” said Dr. Bryan Beaver, an emergency medicine physician at the University of Kansas Health System who is leading the city’s medical coordination for the event.

In countries where healthcare is provided through the government, it is free to patients and, unlike the United States, there is no menu of care options with varying price tags. That’s why, hospital leaders said, visitors need information, so they’ll know where to go and what it may cost if they get sick.

Health leaders said they are also prepared for a mass casualty event, like the shooting after the 2024 Super Bowl parade in Kansas City. Plans are in place so emergency responders and hospitals across the region know exactly how to respond for such an event.

But even if that situation does not unfold during the World Cup, having thousands of extra people on the roads and in the city’s public spaces comes with its own risks. Getting around the city may be more difficult, which could be problematic if someone has a medical emergency.

“There’s a lot of impact that just comes by having an increased population in the city,” said Dr. Jennifer Watts, associate chief medical officer for acute care and inpatient services at Children’s Mercy. “That includes the visitors that are coming, as well as our local population. … It’s going to be an impact that will be felt across our entire region.”

Read the full article via The Beacon

When To Go: Emergency Room vs. Urgent Care

When social media platforms like Friendster, Myspace and Facebook debuted in the early 2000s, they ushered in a dazzling new era in which people could easily reconnect with long-lost classmates, share photos of their weddings and breakfasts alike and laugh together over the latest GIFs and memes.

Since then, we’ve discovered some unintended consequences, which range from more heated political arguments at the dinner table to cyberbullying, misinformation, data privacy issues and mental health concerns.

Libby Milkovich, a developmental and behavioral pediatrician at Children’s Mercy Hospital and ambassador for the AAP’s Center of Excellence on Social Media and Youth Mental Health, cited the impact of social media on executive functioning skills, like learning to work through boredom or practicing delayed gratification.

“It interferes with our ability to create healthy coping skills,” she said. “We go to our phone or to social media as (a means of) avoiding. And so that does not allow us to practice more beneficial types of coping when we’re distressed.”

Read the full article via The Atlanta Journal-Constitution

Children's Mercy Parentish: Understanding children’s mental health and phone use in schools

If you were to meet Wyatt today, you’d see a joyful, energetic little boy who loves Disney movies, baseball and making people laugh. Happiest when he’s with his family, Wyatt is finally getting to enjoy the simple moments of childhood, but his journey hasn’t been simple.

Wyatt’s care at Children’s Mercy began before he was born. At a routine 20-week ultrasound, what should have been a joyful milestone quickly became devastating. His parents learned that his kidneys, ureters and bladder were severely swollen, and they weren’t sure if their baby would survive.

“Transitioning from being a mom of one healthy kiddo to a medical mom is a shift nothing can fully prepare you for,” his mom, Hannah, said.

Soon after, the family was referred to Children’s Mercy, where the Elizabeth J. Ferrell Fetal Health Center took over care for the remainder of Hannah’s pregnancy. For 17 weeks, specialists from fetal health, neonatology and nephrology worked together to guide the family through an overwhelming time such as answering questions, explaining what to expect and offering reassurance along the way.

See the full story and the tower lighting via KCTV 5

The Brendan Tripp Elam Transplant Center at Children's Mercy

Children’s Mercy announced this week it has named John Burson, MD, as the medical director for the Children’s Mercy with Mercy partnership—further strengthening its commitment to bringing specialized pediatric expertise closer to families in Springfield and communities across southwest Missouri.  

“Dr. Burson has served the Springfield region as a lead pediatrician for Mercy for more than 25 years,” said Debbie Schwartzkopf, interim chief administrative officer of Children’s Mercy with Mercy. “His decades of work with patients and families, community health organizations and Mercy colleagues have shaped his perspective on the needs and strengths facing pediatric health care in the region. I am excited to welcome him to our team.” 

As he steps into this new leadership role, Dr. Burson will continue to care for his current patients. 

“I have been a member of the Springfield medical community with Mercy since I completed my training,” said Dr. Burson. “I am first and foremost a general pediatrician and I look forward to bringing that perspective as I work closely with leaders from both Children’s Mercy and Mercy to continue advancing a pediatric system designed around the needs of children and families.” 

For more than a decade, Dr. Burson has helped guide the growth of Mercy’s women’s and children’s services, and his leadership has contributed to the development of numerous pediatric programs. 

Dr. Burson also brings extensive statewide and academic experience. He has served on the March of Dimes Board of Directors at regional and state levels, supported the Missouri Immunization Coalition and taught future pediatric providers through faculty and preceptor roles with Missouri State University, the University of Missouri School of Medicine, and multiple medical and advanced practice training programs. 

The Children’s Mercy with Mercy joint venture was officially launched on Nov. 1, 2025.  

In mid-November, Children’s Mercy announced plans to build a new, dedicated pediatric outpatient facility in Springfield on the Mercy South campus. Construction is now underway, with an anticipated opening date in Dec. 2026.  

Children’s Mercy is proud to announce the addition of Troy Spilde, MD, to its Springfield team as a Pediatric General Surgeon. This strategic expansion reflects the continued commitment to delivering exceptional pediatric care to families in southwest Missouri.

Dr. Spilde brings more than 20 years of experience in pediatric general surgery and marks a return to Children’s Mercy where he completed his fellowship training after graduating from University of North Dakota School of Medicine and Health Sciences and completing his residency at UMKC/Truman Medical Center. His fellowship training included a Pediatric Surgery Research Fellowship year, Surgical Critical Care Fellowship and Pediatric Surgery Fellowship.

His career also includes previous leadership roles at Mercy Springfield and St. John’s Children’s Hospital in Springfield, Ill. In addition to these roles, he has also served as an Assistant Professor in Clinical Surgery at Southern Illinois University School of Medicine and Clinical Assistant Professor of Surgery at the University of Missouri, reflecting a deep commitment to advancing care and collaboration.

Dr. Spilde focuses on delivering the highest standard of care for patients and will work closely with Children’s Mercy and Mercy Springfield department of surgery teams whose leadership and dedication have been instrumental in building a strong foundation for pediatric care in Springfield.

“We are very excited to welcome Dr. Spilde to the team,” said Debbie Schwartzkopf, DNP, RN, CPHQ, Children’s Mercy with Mercy Interim Chief Administrative Officer. “Dr. Spilde represents the first of what we hope are many new physician hires to help us enhance the pediatric specialty services at Mercy Springfield and to fulfill our commitment to the community to improve the health and well-being of children with specialty pediatric care options closer to home.”

PRESS RELEASE: Children's Mercy and Mercy Springfield Communities to Build Dedicated Pediatric Facility in Springfield

Children's Mercy with Mercy

Across the United States, pediatric health care faces a critical challenge: a growing shortage of clinicians is meeting rising levels of burnout. Fewer medical graduates choose pediatrics — citing long hours and lower compensation compared to other specialties — and national surveys show pediatricians and pediatric nurses experience higher rates of burnout than many adult-care peers. The National Academy of Medicine calls clinician burnout a public health crisis with real implications for workforce retention, patient safety and care quality. With the lives of children at hand, hospitals cannot afford to ignore the workplace environment and their staff’s mental wellbeing.

While the symptoms of burnout — emotional exhaustion, detachment, a loss of sense of accomplishment — are well documented, the underlying causes often run deeper than any one individual’s experience. Pediatric clinicians bear the weight of caring for sick children and their families, often in high-stress environments where the stakes could not be higher. The emotional intensity of these interactions, coupled with administrative burdens and systemic pressures, leaves many clinicians at risk of leaving the field altogether.

The impacts of this crisis ripple throughout entire health systems. When clinicians leave, hospitals face increased costs, instability in care teams and challenges maintaining high standards of care. Children and families lose access to trusted clinicians, and those remaining must shoulder even more responsibility, further compounding the strain.

Health care leaders increasingly recognize that piecemeal solutions — like pizza parties or sporadic wellness days — do little to address the roots of the crisis. The most forward-thinking organizations are building comprehensive, data-driven strategies that embed wellbeing into the very fabric of hospital culture and operations. These strategies prioritize the mental, emotional and physical health of their workforce not as an afterthought, but as a prerequisite for delivering high-quality patient care.

As chief wellbeing officer at Children’s Mercy in Kansas City, I have seen firsthand how a holistic approach to wellbeing can transform the environment for pediatric clinicians. In pediatrics, the emotional demands are constant, and supporting clinicians requires a holistic approach, not just a single program or resource.

Read the full article via HealthCareBusiness News

Children's Mercy is ALL IN to support health workforce wellbeing

Forget colorful leaves. Any caregiver knows that the real signs of fall are kids with coughs, sneezes and sniffles.

Autumn marks the start of respiratory virus season, when colds, flu and other bugs start circulating — especially among the very young.

A recent study confirmed what many families intuitively know: The littlest students harbor the most germs.

Children in pre-kindergarten and elementary school showed highest rates of virus detection compared with older students and staff, according to research published in the journal Pediatrics.

“Young children can have up to 10 respiratory viruses a year as their immune systems are introduced to different infections for the first time,” said Dr. Jennifer Goldman, a pediatrician at Children’s Mercy hospital in Kansas City, Missouri, who co-led the study.

Read the full article via The Associated Press

Children's Mercy Parentish blog: How to choose a pediatrician for your child

Jennifer L. Goldman, M.D., from Children’s Mercy Kansas City in Missouri, and colleagues examined the incidence of respiratory virus detections and ARIs in pre-K to 12th-grade students and staff in the Knowledge of Infectious Diseases in Schools longitudinal prospective surveillance study. From November 2022 to May 2023, students and staff self-collected nasal swabs and reported respiratory symptoms.

Read the full article via Health Medicine Network

See the study via the American Academy of Pediatrics

A decade after becoming the first clinic to offer whole genome sequencing, Children’s Mercy Hospital in Kansas City is pioneering the use of a technology that reveals even more of a person’s genome — called five-base, long-read sequencing.

As its name suggests, this method goes beyond showing just the four DNA bases (A,G,C,T). It also reveals how cells read them and if they are used at all.

“So we have about 10,000 rare genetic diseases, and each of those is characterized by a different problem in the genome,” said Dr. Tomi Pastinen, director of the program Genomic Answers for Kids. “A single letter changed among the 6 billion letters in your genome can lead to a devastating disease and early death, even in the worst case scenario.”

Pastinen led the first clinical study of five-base, long-read sequencing, which was published this month in the Journal of the American Medical Association Pediatrics.

Listen to the full segment via KCUR

PRESS RELEASE: Unlocking Answers Faster. Children’s Mercy Revolutionizes Genetic Disease Diagnosis with a Single-Test

On Thursday, Children’s Mercy celebrated a major milestone in the construction of its new clinic with a ceremonial beam-raising event in northeast Wichita.

Guests gathered near 29th and Greenwich to sign the final structural beam before it was lifted into place, leaving their mark on the new clinic.

When it is finished, it will serve more than 10,000 pediatric patients from across the region.

“We are built for kids we talk about it all the time, CM is built for kids and what that means is that every aspect of the way we build our building the way we deliver our care is designed with kids and their families in mind and that’s something we take seriously, we are devoted to taking care of kids and their families,” Dr. Amy Fallon, the president of regional operations for Children`s Mercy, said.

See the full story via KSN

PRESS RELEASE: Children’s Mercy Kansas City Unveils Plans to Expand Pediatric Ambulatory, Specialty Care in Wichita

Children's Mercy in Wichita

Clinical long-read whole-genome sequencing offers the potential to replace other diagnostic methods for suspected genetic disease, according to a new study from researchers at Children's Mercy Kansas City. 

On Monday, researchers led by Tomi Pastinen published data in JAMA Pediatrics comparing long-read WGS to a basket of other methods, including panels, cytogenetics, microarrays, and exome sequencing. The results are the first to be published since Children's Mercy validated a WGS test based on Pacific Biosciences' HiFi sequencing method. 

The study analyzed 235 cases using long-read WGS and compared those results to 513 historical matched control cases selected on the basis of indication, age, and sex. Their test increased diagnostic yield to approximately 37 percent, compared to 27 percent for all other methods. Time to diagnosis averaged 27 days, compared to 62 days for the other methods, while time to a negative result was 29 days, compared to 91 days.

Read the full article via GenomeWeb Premium

PRESS RELEASE: Unlocking Answers Faster. Children’s Mercy Revolutionizes Genetic Disease Diagnosis with a Single-Test

Genomic Medicine Center at Children's Mercy

Children's Mercy has launched a new partial hospitalization program as part of its Illuminate initiative to address the growing mental health crisis among Kansas City children.

The program, which opened in late August, aims to fill the gap between inpatient and outpatient mental health services by providing intensive daily support while allowing children to return home to their families each night.

"One of the things that was really important to us was that when we bring children here and work with them and identify the best interventions and help them learn skills, that they will be able to generalize those skills back home and back to school," said Dr. Rebecca Johnson, developmental and behavioral health division director.

The partial hospitalization program (PCP) represents the latest milestone in Children's Mercy's Illuminate initiative, which was announced in 2023. In December 2024, the hospital celebrated the opening of its first mental wellness campus.

Johnson’s life’s work is to get kids the tools they need to thrive. In PHP, that means days full of learning and therapeutic services.

See the full story via KSHB 41 

PRESS RELEASE: Children's Mercy Launches Partial Hospitalization Program to Address Pediatric Mental Health Needs in the Community

Children's Mercy Illuminate plan

Kansas City-based Children’s Mercy will assume management of Mercy Springfield Communities’ pediatric care after formalizing a partnership announced last year.

John Myers, president of Mercy Springfield Communities, said the pediatric management agreement with Children’s Mercy becomes effective Nov. 1 and covers the health system’s existing pediatric hospital within Mercy Hospital Springfield and its specialty care clinics.

The two organizations are each big players in their own right: Children’s Mercy operates a 367-bed, free-standing children’s hospital in Kansas City and more than a dozen health care facilities in Missouri and Kansas, according to its website. It has over 800 pediatric specialists among its nearly 8,900 employees. Mercy Springfield Communities had 9,217 local employees as of July 2024, according to SBJ’s list of the area’s largest employers, and officials say more than 160 pediatric employees currently work locally for the health system.

A partnership between the two health systems was first announced in March 2024, however this newly signed joint operating agreement provides some of the first details on how the health systems will work together on care.

Myers spoke to Springfield Business Journal along with Amy Fallon, president of regional operations for Children’s Mercy, ahead of an Aug. 14 news conference announcing the signing of the joint operating agreement. 

Read the full article via the Springfield Business Journal

PRESS RELEASE: Mercy and Children's Mercy Announce New Details of Partnership and Expanded Pediatric Care at Today's Community Celebration

As digital media becomes ubiquitous, so does “technoference,” or the "measurable amount of technology that is interfering with relationships," according to Children’s Mercy developmental and behavioral pediatrician Dr. Libby Milkovich.

“We often think about exposure to harmful content like cyberbullying or inappropriate content, but also digital media displaces helpful activities for mental and physical well-being,” she said. “It's interrupting organic family connections.”

Married couple and parents Justin Finn and Molly Kavanagh say they had that in mind when they opened Dozer, a giant indoor sandbox in Leawood, Kansas.

“The main goal and purpose (of Dozer) is to reconnect the family and the time that we spend with each other,” Kavanagh said. “Bringing a purposeful way to be present and have fun in a very safe environment.”

See the full article via KCUR

At Children’s Mercy Hospital in Kansas City, researchers have created something extraordinary: tiny, beating lab-grown “hearts.” Visible only under a microscope, the diminutive innards are called organoids. They can be grown in a matter of days from a patient's own stem cells, and their doctors use them to screen for the best medicine for their condition, sparing months of trial and error.

They’re also core to the future of drug testing, and someday perhaps the end of the lab rat.

Animal testing has been mandated by law since 1937, when a new formulation of a common antibiotic had a poisonous new ingredient — and killed more than 100 people. Nearly a century later, drugs are still being pulled from shelves because they have toxic effects, even though animal testing showed they were safe. Now, politicians, scientists and entrepreneurs are pushing for new, more accurate ways to test drugs before they get to human clinical trials — potentially saving lives and billions of dollars in the process.

Read the full article via Forbes

Children’s Mercy Announces Breakthrough in Personalized Therapy for Rare Genetic Diseases

Children's Mercy Research Institute

By Grace Mayer

Children’s Mercy Kansas City tapped a transplant surgeon from Stanford’s pediatric hospital to lead its transplant center and research program.

Dr. Clark Andrew Bonham was named the director of transplant surgery at Children’s Mercy. He also will be the director of the transplant research program at the Brendan Tripp Elam Transplant Center, part of the pediatric hospital.

Bonham spent 22 years working at Stanford Hospital and Lucile Packard Children’s Hospital affiliated with Stanford Medicine. During his time there, he oversaw transplant teams and directed complex organ, liver and intestinal donor transplant programs, according to a release from Children’s Mercy.

Read the full article via the Kansas City Business Journal

The Brendan Tripp Elam Transplant Center at Children's Mercy

During the winter of 2023, staff at Children's Mercy Kansas City were waiting for the "surge": a dreaded period when viral illnesses like influenza and RSV abound, leading to an increase in hospital admissions.

But as the winter bled into 2024, it became clear that something had changed. Children were still getting sick and requiring advanced medical care. However, staff at Children's Mercy weren't "feeling the angst" like they had in years past, according to Dr. Jennifer Watts, the hospital's associate chief medical officer of acute care and inpatient operations.

The difference, Watts said, came from technology. That was the hospital's first year using GE HealthCare's Command Center software, a product that allows it to digitally monitor care delivery and track patients' progress throughout their stay.

It's like the "NASA" control hub for the health system, Watts told Newsweek. During the first winter partnering with GE, Children's Mercy staff began asking, "Is the surge here?"

"They just didn't feel it," Watts said. "We were able to prepare. We were able to have [sufficient] staff present. We got rid of the scramble that typically occurs when you don't prepare for things."

Read the full article via Newsweek

Children's Mercy Patient Progression Hub

During the National Kidney Foundation (NKF) Spring Clinical Meetings 2025 (SCM25), Bradley Warady, MD, received the David M. Hume Award in recognition of his scholarship and humanitarianism. Dr. Warady is the McLaughlin Family Endowed Chair in Nephrology and a professor of pediatrics at the University of Missouri–Kansas City School of Medicine and serves as director of Nephrology and Dialysis and Transplantation at Children’s Mercy Kansas City.

In addition, he is a principal investigator of the Chronic Kidney Disease in Children (CKiD) study and among the lead faculty of the Standardizing Care to Improve Outcomes in Pediatric ESRD (SCOPE) collaborative, which aims to minimize infection-related complications in pediatric patients undergoing dialysis. In short, his career has been dedicated to children with kidney disease.

Nephrology Times spoke with Dr. Warady at SCM25 ahead of his acceptance of the award.

See the full interview via Nephrology Times

Children's Mercy Division of Pediatric Nephrology

The National Kidney Foundation (NKF) has awarded Bradley A. Warady, MD, the McLaughlin Family Endowed Chair in Nephrology, Professor of Pediatrics at the University of Missouri-Kansas City School of Medicine and Director, Division of Nephrology at Children’s Mercy Kansas City, with the David M. Hume Memorial Award. The distinguished honor will be presented at the NKF 2025 Spring Clinical Meetings in Boston, April 9 -13.  

Each year NKF considers the work of hundreds of specialists in the field of nephrology and selects among them those who most exemplify the relentless efforts of the NKF to enhance the lives of patients,  work that is vital to the 35 million adults and the many children in the U.S. who are affected by chronic kidney disease (CKD) and the 1 in 3 people who are at risk.

The David M. Hume Award was created in memory of one of NKF’s most distinguished members. The Hume Award is the highest honor given to a distinguished scientist-clinician in the field of kidney and urologic diseases. It is bestowed upon an individual who exemplifies the high ideals of scholarship and humanitarianism in an outstanding manner. 

Read the full press release via the National Kidney Foundation

Children's Mercy Division of Pediatric Nephrology

Stephanie Meyer, MS-FNP, RN, NEA-BC has been promoted to Executive Vice President/Chief Nursing Executive and Chief Operating Officer for Inpatient Operations. Stephanie’s journey at Children’s Mercy spans 26 years and she has served in a variety of leadership roles, including Vice President of Patient Care Operations, Associate Chief Nursing Officer (CNO) and most recently CNO.

Stephanie is known for her authenticity, her effectiveness, and has a remarkable talent for driving improvement while fostering collaboration. In her new role, she will oversee the daily operations of inpatient care, align services with organizational goals and foster a collaborative environment among health care teams.

Steven Leeder, PharmD, PhD has been promoted to Executive Vice President and Chief Scientific Officer. With 28 years of service, Dr. Leeder is a renowned leader in Pediatric Precision Therapeutics and has been a cornerstone of the Children’s Mercy research enterprise, developing programs like GOLDILOKS. During his time as interim leader of the Children's Mercy Research Institute, he and the team saw significant growth in extramural funding while continuing to ensure research transforms care in ways that deeply impact our children and families.

In his new role, Dr. Leeder will continue to drive innovation and excellence in scientific research, furthering the organization’s mission to improve patient care through cutting-edge discoveries.

Amy Fallon, PhD has been promoted to President of Regional Operations. Dr. Fallon has a proven track record of success in health care management and has served as the Vice President and Chief Administrative Officer for Children’s Mercy Hospital Kansas the past year.

She has been instrumental in expanding Children’s Mercy’s presence in Kansas and overseeing the success of the Kansas campus, ensuring more families across the region have access to exceptional care. Her strategic vision and commitment are a driving force behind the organization’s growth. In her new role, she will oversee operations throughout the region.

Tomi Pastinen, MD, PhD, has been promoted to Vice President and Associate Chief Medical Officer for Clinical and Research Integration. Dr. Pastinen has served as the Division Director of Genomic Medicine for the past seven years where he has made significant contributions to the field of pediatric genomics.

Through the Genomic Answers for Kids initiative, a first-of-its-kind pediatric data repository to facilitate the search for answers and novel treatments for pediatric genetic conditions, Dr. Pastinen has transformed care for children with rare diseases and placed Children’s Mercy at the forefront of global innovation. Under his leadership, Children’s Mercy became the first health care system in the U.S. to use 5-base HiFi sequencing, the world’s most-advanced genomic sequencing technology, in both research and the clinical setting. In this new role, Dr. Pastinen will spearhead translational research to bridge the gap between the bedside and the bench to help improve patient care and outcomes.  

“These promotions reflect the remarkable talent within Children’s Mercy and our shared vision for the future,” said Alejandro Quiroga, MD, MBA, President and Chief Executive Officer, Children’s Mercy Kansas City. “Their leadership, expertise and dedication will undoubtedly continue to strengthen our organization and enhance our ability to provide the best possible care to the children and families in our community.”

Does it feel like everyone is sick right now? In the last two weeks, Kansas City and the country have seen an increase in influenza cases and some other illnesses.

According to the CDC, last week’s data shows clinical labs saw a 29.4% increase in tests positive for influenza.

Local doctors said a rise in cases is common his time of year.

“We saw a big rise in December and then a decrease right and that happens over the holidays and then we had that big snowstorm so there was no school right and so now we are seeing this big rise again which is totally expected,” said Children’s Mercy Division Director of Infectious Diseases, Dr. Angela Myers.

In the past week, Children’s Mercy saw 670 cases of influenza, which is just across the hospital’s system and does not include practices around town.

See the full story via KCTV 5

At Children's Hospital Colorado, Aurora, Colorado, pediatricians will soon have a new ally in diagnosing and identifying complex neurodevelopmental conditions like epilepsy, attention-deficit/hyperactivity disorder (ADHD), and autism: Genetic testing.

Later this year, primary care clinicians and pediatricians at the health system will be able to initiate genetic testing for children with neurodevelopmental and other disorders directly through the electronic health record system. The goal is to make diagnosing genetic conditions and finding DNA variants more efficient.

“Pediatricians are busy. They are seeing lots of patients. They don’t have a lot of time,” said Scott Demarest, MD, a neurologist and medical director of the Precision Medicine Institute at the facility in Aurora, Colorado. “You have to think about how to make it easy on them, and I think we have the ability from a technology standpoint to start doing that more than we could in the past.”

Demarest and his colleagues in 2023 analyzed data from genetic testing of children with epilepsy at the health system. They found that between 2016 and 2020, the time from when a child first had a seizure to when they underwent testing decreased from 3 years to 8 months. The percentage of tests that successfully identified a genetic cause for their seizures remained roughly stable (11%-13% over the study period) despite a 292% increase in the average number of tests conducted per month. Over 75% of the genetic variants found to cause disease helped inform clinicians on treatment decisions, Demarest said.

Tomi Pastinen, MD, PhD, director of the Center for Pediatric Genomic Medicine at Children’s Mercy Kansas City in Kansas City, Missouri, spearheaded a similar approach in rural communities, providing primary care clinicians with direct access to genomic testing.

Direct-to-provider testing shortened the time to diagnosis by 5.5 months compared with the standard method of first referring patients to a specialist. For instance, genetic testing ordered by a primary care provider showed that the cause of autism and global developmental delay in one patient was caused by a pathogenic variant in a gene, ZNF462, known as Weiss-Kruszka syndrome, a rare condition with a prevalence estimated to be less than one in a million people.

“We’ve found that directly empowering primary care providers to order genetic tests can uncover undiagnosed genetic disorders in these underserved populations,” he said.

Read the full article via Medscape

Children's Mercy Genomic Medicine Center

Water beads may look harmless and fun, but the authors of a new report — including a mom whose daughter was seriously injured by them — are calling for a ban on their sale.

When Ashley Haugen's daughter Kipley was a toddler, she developed a rash and was throwing up. Doctors couldn't figure out what was wrong. It turned out she had ingested the small, water-absorbing beads her older sister was playing with. The beads can expand to 100 times their size when exposed to water. 

"During surgery, they found the water beads had caused a blockage inside of her small intestine," Haugen told CBS News. "Because the water beads were marketed as non-toxic eco-friendly and biodegradable, everybody thought that she would be fine."

But in the weeks that followed, Kipley began having trouble with coordination and responding to commands. Doctors confirmed she was experiencing developmental delays, leading to a diagnosis of toxic brain encephalopathy.

Kipley's case has recently been published in the journal Pediatrics. Haugen is one of the first parent advocates to co-author a case report in the journal. The authors are also calling for warning labels about the risks of ingestion on all products containing water beads.

"Water beads are made of poly acrylamide and acrylamide is a known neurotoxin. Our consumer products and the chemicals used to make them are not well regulated," Dr. Elizabeth Friedman, the Medical Director for Environmental Health at Children's Mercy Kansas City, told CBS News. 

See the full story via CBS News

Frankie McGinn could not seem to lose weight no matter how hard she tried. The 16-year-old Chicago teen ate a healthy diet and played basketball seven days a week, several hours a day. Eventually, she became so uncomfortable in her body that she took to wearing baggy sweatshirts and tried to avoid mirrors and windows at the shopping mall.

Then, inspired by her mom’s success with semaglutide (Wegovy) — one of the glucagonlike peptide-1 (GLP-1) medications that’s been transforming weight-loss care — Frankie got a prescription as well. She had some nausea at times, and she’s needed to see a doctor at Lurie Children’s Hospital of Chicago monthly for monitoring. But the results have been dramatic.

“I lost 42 pounds since March. I feel healthier, and I have more energy. I used to have to take a nap after school,” says Frankie, now 17. “I’m happier, and I have more confidence. I feel better in my body. [Medication] has helped me in so many ways.”

In the United States, more than 14 million children and teenagers — roughly 1 out of 5 — are affected by obesity. That means their body mass index (BMI) is at the 95^th percentile or above, increasing their risks of diabetes, heart disease, and other health problems, says Fatima Cody Stanford, MD, MPH, MPA, MBA, an obesity physician-scientist at Massachusetts General Hospital and Harvard Medical School in Boston.

Up until 2023, pediatricians were advised to apply a “watchful waiting” approach with patients diagnosed with obesity, and to recommend lifestyle treatments aimed at healthier eating and exercise habits. But that year, the American Academy of Pediatrics (AAP) released guidelines stating that providers should offer medications to patients 12 and older with obesity, alongside lifestyle treatment. Patients 13 and older diagnosed with severe obesity should be evaluated for bariatric surgery, the authors wrote.

Criticism quickly ensued. Some pointed to evidence suggesting that not everyone diagnosed with obesity needs to lose weight to stay healthy and bemoaned the use of BMI, a controversial measure that is increasingly considered inadequate unless additional factors such as waist circumference are also evaluated. Others worried about the potential long-term risks of GLP-1s, which could require lifelong use given that weight usually returns when treatment ends.

GLP-1s can have powerful effects. In one study, nearly three-quarters of teens who received semaglutide experienced a weight loss of 5% or more — compared with 18% of patients who experienced that degree of weight loss who received a placebo. The medication group experienced a BMI drop of 16%, while the control group saw just a 0.6% reduction.

“These medications can be life-changing,” says Aaron Kelly, PhD, codirector of the Center for Pediatric Obesity medicine at the University of Minnesota Medical School. Kelly helped conduct pediatric semaglutide studies.

GLP-1 medications also seem to have relatively few side effects. The most common ones — gastrointestinal issues like nausea and diarrhea — often resolve over time, says Kelly.

Still, GLP-1s are not for everyone.

“Before prescribing, providers need to consider the whole patient, including the child’s physical and emotional health and the environment they live in,” says Sarah Hampl, MD, a coauthor of the AAP guidelines, pediatrician at Children’s Mercy Kansas City, and professor of pediatrics at University of Missouri-Kansas City School of Medicine. “Typically, there is a pretty remarkable decrease in appetite, so close monitoring will be necessary to avoid inadequate nutrition and hydration.”

Read the full article via AAMC

Children's Mercy Weight Management Program

The antibiotic widely referred to by the popular brand name Bactrim is prescribed to an estimated 3 million people in the US each year. 

For most, it's a helpful and important drug, but in rare cases, some patients have had serious and even fatal reactions to it. 

See the full story via CNN

Children's Mercy Bactrim Lung Failure Team

“Rapid and scalable personalized ASO screening in patient-derived organoids” outlines how the authors were able to create patient-derived induced pluripotent stem cells (iPSCs) and use them to validate personalized treatments in only eight weeks, much faster than the industry average. The paper explains their process, and the team hopes other institutions will adopt their methods to help rare disease patients all over the world get better, faster care.

“We put in every detail,” said Scott T. Younger, PhD, Director, Disease Gene Engineering, Genomic Medicine Center, and leader of The Younger Laboratory. “We even added extra supplementary material. There are no proprietary steps; this needs to be going on everywhere.”

The study’s co-authors are John C. Means, PhD, research scientist, Genomic Medicine Center; Anabel L. Martinez Bengochea, PhD, post-doctoral research scholar, Clinical Pharmacology and Toxicology; Daniel A. Louiselle, MS, research assistant, Genomic Medicine Center; Jacqelyn M. Nemechek, PhD, research scientist, Hematology/Oncology/BMT; John M. Perry, PhD, doctoral research faculty, Hematology/Oncology/BMT; Emily G. Farrow, PhD, CGC, Assistant Clinical Director, Clinical Genetics; Tomi Pastinen, MD, PhD, Division Director, Genomic Medicine Center; and Dr. Younger.

“The ‘bedside-to-bench-to-bedside' application of the patient-derived organoid model system developed by Dr. Younger and his team is an excellent example of how challenges faced by patients, their families and their providers help us prioritize the integration of research with clinical care at Children's Mercy,” said Steve Leeder, PharmD, PhD, CMRI’s Interim Executive Director.

“[The publication] is a really cool opportunity to share the work we’ve done with Genomic Answers for Kids,” said Dr. Younger, whose lab aims to shorten the distance between clinical and functional genomics. “It’s a highly visible journal, so it puts us on the radar of leading the charge on patient-derived rare disease models.”

Driven by personal experience

The article marks not only an important advancement in efficient, patient-specific genomics, but a milestone in a deeply personal quest for its lead author, Dr. Means. His stepson, Trent, is currently a thriving, straight-A junior high student. But when Dr. Means met his now-wife, Chrislyn, Trent was a toddler with an undiagnosed rare condition and brain abnormalities. He was born with encephalocele, a condition that caused some of his brain tissue to be located in his nose.

Fortunately, Trent was successfully treated through surgery, but they still don’t know the genetic causes behind the encephalocele. Dr. Means and Chrislyn were also concerned their younger son, Leuk, could have a rare condition: His fontanelle (soft spot) wasn’t closing, but it healed on its own with time.

When a position at the CMRI Genomic Medicine Center opened up, John and Chrislyn talked about how great it would be to help families like theirs get answers. “I thought it was the best opportunity to somehow make a difference in another kid’s life,” said Dr. Means.

Faster, more efficient answers

Dr. Means joined the Genomic Medicine Center in January 2020 and dove head-first into one of their biggest research challenges: faster and more affordable personalized genomic testing processes.

“We have very diverse rare disease patients,” said Dr. Younger. “We want to be able to do as much as we can for as many people as we can. Scalability is baked into all of our decisions.”

Labs have been generating patient-derived iPSCs for research and personalized medicine applications for almost 20 years. These stem cell lines can be directed down a differentiation path to become organoids, 3-dimensional cell models that replicate patients’ organ development and function. Organoids are particularly helpful when diagnosing conditions that are more prevalent in a certain organ and/or testing organ-specific treatment responses.

But it can be expensive and time-consuming to create patient-derived iPSCs and organoids. Other research organizations charge $5,000 to $10,000 per patient and take between six months and a year to deliver a quality stem cell line and/or organoid...at which point testing can begin.

“Our patients don’t want to wait forever,” said Dr. Means. “My job was to say, ‘How fast and efficient can we make this process?’”

Dr. Means started with the current literature and began combining different proven approaches to build a more robust system. “I spent long and intense hours working on this,” said Dr. Means, “and then, all of a sudden, it clicked.”

The process Dr. Means and his co-authors developed uses only a small number of patient blood cells and significantly lowers both time (around 85% faster) and cost (less than 4% of current market pricing). In addition, the team can process multiple organoids at once, leading to much faster test interventions.

Instead of waiting more than a year for test results, a family could go from blood draw to diagnosis and/or treatment recommendation in a month or two.

Dr. Means is still refining the process and has improved efficiency beyond the current paper’s publication data.

“John really worked hard to optimize the process to a point where iPSC creation only costs about $200 and takes two to three weeks,” said Dr. Younger. “And these turn out to be really high-quality stem cell lines.”

Research with real-time results

With CMRI’s emphasis on translational research, the team's process improvements served a patient-specific purpose. While other labs mostly research with commercially available stem cell lines, the Genomic Medicine Center is able to create lines and organoids for current GA4K patients.

“A major motivation behind the lines we’ve generated thus far is that we believed doing so would provide information,” said Dr. Younger. "We can actually see what happens with the genetic background of actual patients. That’s unlocked amazing opportunities for us.”

In the second part of the paper, the team described a method for faster preclinical testing for three GA4K patients with Duchenne muscular dystrophy (DMD). These patients’ genetic variants were good candidates for treatment with antisense oligonucleotides (ASOs). ASOs are synthetic nucleic acids that bind to RNA in a sequence-specific way to reduce, modify or restore proteins — like dystrophin, the protein DMD patients struggle to produce.

There are already four conditionally FDA-approved ASOs that increase dystrophin production, with others in development. The team wanted to see if they could identify ASOs that could restore dystrophin protein in these patients’ stem cells and/or organoids, which would suggest they could help treat the whole patient.

And they did: Using an ASO matching an approved sequence, the team was able to restore dystrophin protein in one patient’s stem cell line within five days. They also restored dystrophin protein in two siblings’ stem cell lines (as well as contraction rates and calcium levels in their cardiac organoids) with a new ASO designed to target their specific intronic variant.

“We demonstrated the ability to go from patient blood draw to evaluating personalized therapeutics in as little as 6 to 8 weeks — a process that before could take up to a year,” said Dr. Younger. “It gave us confidence we could use these lines and organoids to evaluate therapeutic responses.”

Bedside-to-bench-to-bedside research continues

The close tie between research and clinical efforts at Children’s Mercy leads to much faster practical outcomes than independent labs can produce. As they continue to finetune their process, the team is already helping Children’s Mercy clinicians tailor treatments to patients. They recently tested different seizure medications on a patient-derived brain organoid.

“One of the cool things about working here is that you can actually help some patients in real time,” said Dr. Means. “We were able to narrow down to a therapeutic that worked without the patient having to go through months of trial and error.”

“It’s anecdotal,” said Dr. Younger, “but it feels pretty good. This might be a path forward.”

Dr. Means is currently expanding testing capabilities to be able to do large drug screens with hundreds of patient-derived organoids simultaneously for even more efficient answers. His excitement for precision medicine’s future makes him wonder about the past.

“With my stepson, if we had these capabilities back then, what would we have known?” asked Dr. Means. “What type of help, be it therapy or medicines, could we have given him to have made it a little easier?”

“We got lucky with the surgery being enough for Trent, but we still have unanswered questions,” said Dr. Means. “I figure there are a lot of families out there with the same situation. If you can give some type of answer to a family, they don’t have to wonder if they could have done something more.”

Sharing a blueprint for “something more”

Dr. Younger said researchers all over the world are studying how to deliver that “something more” to rare disease patients. Others are working to overcome the regulatory and cost challenges of designing treatments for one patient at a time. Children’s Mercy just super-charged their efforts with the blueprints for a faster and more efficient patient-specific genomics process.

“Patient-derived organoid models can not only be applied more broadly to create cellular systems for investigating disorders involving the heart, kidney, liver and other tissues, but the approach can also be applied to distinguish between medications likely to work for a given patient and those that may not,” said Dr. Leeder. “Having the capacity to leverage the patient-derived organoid platform at scale uniquely positions Children's Mercy's research enterprise to become ‘bedside-to-bench-to bedside-and beyond’.”

“My vision for the future is that programs like ours would exist everywhere,” said Dr. Younger. “Rare disease is not a centralized problem. At the same time, it’s very clear that our platform is so robust and scalable that people want to start using it now. We’re interested in making as big an impact as we can.”

By Jocelyn Kaiser

Tens of thousands of babies are born each year with mysterious diseases caused by genetic mutations so rare no one has yet tried to develop a treatment. Now, researchers have found a way to use tiny blobs of tissue grown from patients’ blood cells to speed up the lab work needed to test personalized drugs for some of these sick children. Their study, published today in Nature, suggests these lab-grown “organoids” can help predict the treatment effects of genetic drugs made from RNA.

Testing customized RNA drugs using tissues created from a patient’s own cells “hasn’t really been done,” says developmental biologist Madeline Lancaster of the Medical Research Council Laboratory of Molecular Biology, who was not involved in the work. “This is a very impressive and important study,” she says, that could cut the high costs and speed the pace of personalized medicine.

The study’s leader, molecular biologist Scott Younger of the Children’s Mercy Research Institute, was inspired by the story of Mila, a girl with a rare brain disorder called Batten disease who temporarily improved after researchers quickly developed a drug tailored to her unusual disease mutation. The drug was an antisense oligonucleotide (ASO), a strand of RNA that can fix a mutation by bridging a flaw in the gene’s messenger RNA, the blueprint for building a protein. Younger wanted to develop tailored ASOs for patients enrolled in an initiative at his institute that aims to sequence the genomes of 30,000 children with rare genetic conditions over 7 years to identify their disease-causing mutations.

Read the full article via Science

Children's Mercy Research Institute

High-impact journal The Lancet just published a first-of-its-kind study led by Shawn St. Peter, MD, Senior Vice President, Surgeon-in-Chief and Interim Chief Scientific Officer, Children's Mercy Kansas City.

“Appendicectomy* versus antibiotics for acute uncomplicated appendicitis in children” describes the APPY Trial, the first large-scale, randomized clinical trial on the subject. Dr. St. Peter’s co-authors from Children’s Mercy included Janelle R. Noel-MacDonnell, PhD, Health Services and Outcomes, and Pete Muenks, ACRP-CP, Senior Clinical Research Coordinator, Children’s Mercy Research Institute (CMRI).

The APPY trial ran between January 2016 and December 2021. It included 11 children’s hospitals and 936 patients, 5 to 16 years old, with suspected non-perforated appendicitis. Families who chose to participate in the trial were randomly assigned a treatment path: antibiotics or appendectomy.

The study compares the failure rates of those two unequal options: Antibiotics avoid surgery but can come with unpleasant side effects and a chance of recurrence. Appendectomies are low-risk surgeries with short recovery times and no risk of recurrence. 

“The question is what recurrence rate would you accept in order to avoid an operation?” said Dr. St. Peter. “As a working group, we settled on greater than a 20% difference in failure rates would be inferior.”

With a failure rate difference outside of that acceptable range, the study concluded that “antibiotic treatment for uncomplicated appendicitis in children was inferior to appendectomy in this trial.”

The study also found that the total time spent in the hospital was shorter with appendectomies. That outcome was influenced by the antibiotic treatment’s in-hospital IV protocol and recurrences that sent patients back to the hospital. However, patients treated by antibiotics bounced back to “normal function” a little faster than appendectomy patients, who needed to recover from surgery.

A real-world study

For patients treated with surgery, the study considered a negative appendectomy (when the removed appendix shows no signs of disease) a failure (7%). For patients treated with antibiotics, failure was defined as needing to have an appendectomy within one year (34%). Most of those appendectomies happened within the first 100 days.

“What does Mom think of that number?” said Dr. St. Peter of that 1/3 chance of appendicitis recurrence after antibiotic treatment. “It’s within the eye of the beholder. If somebody’s terrified of an operation, that might seem reasonable.”

The antibiotics failure rate included patients who were assigned antibiotic treatment but whose families later requested an appendectomy. “This is a pragmatic, real-world study,” said Dr. St. Peter. “You’re going to have dissatisfied families that within a day or two are going to say, ‘enough.’”

Research informs future treatment guidelines

The study fills a needed gap in appendicitis treatment literature and provides evidence-based talking points for discussing treatment options with parents.

"We know what the failure rates are for all stratifications of patients with appendicitis,” said Dr. St. Peter. “Now that we’ve got the playing rules, we can put together the game.”

The team will continue to research the most beneficial place for antibiotics in appendicitis treatment pathways. They are currently submitting a grant to study sending patients home from the ER with oral antibiotics (instead of the current study’s protocol of starting with 12+ hours of IV antibiotics). “If that were to be successful, then, the next evolution could be point-of-care antibiotic treatment for early appendicitis.”

* “Appendicectomy” is the British spelling of “appendectomy” used by The Lancet.

Surgery at Children's Mercy Kansas City

Dave Frantze talks in a raspy voice, a result of recurring sinus infections. But after battling cancer for nearly a decade, he’ll take a sinus infection any day.

“I will have a cold for the rest of my life to not have multiple myeloma. It’s a great trade-off,” Frantze said, smiling.

Frantze, 69, in many ways is healthier than he’s been in years, after a blood cancer diagnosis in 2017 upended his life.

The Stinson LLP development attorney who has, in legal and incentive matters, spoken up for projects to restore Union Station, build the Kansas City Power & Light District and T-Mobile Center, and pass a $1.7 billion tax increment financing plan for Cerner Corp.’s Innovations Campus, carries the wear of six years battling multiple myeloma. Frantze is a part of the less than 1% of people in the U.S. who develop this deadly blood cancer, which affects the bone marrow, the source of blood-producing cells.

He has the voice of someone who —after a bone marrow transplant, rounds of chemotherapy and a landmark immunotherapy — achieved complete remission in late 2022.

A treatment offered at The University of Kansas Health System improved his odds of survival. CAR T-cell therapy is an immunotherapy that treats rare blood cancers — and someday could treat more common types of solid-tumor cancers.

This therapy, along with advances in genomic testing, is one of several that are leading to highly personalized treatment plans and improving outcomes for patients with cancer and rare diseases. And this work is being done at some of Kansas City’s top health care institutions, including The University of Kansas Cancer Center, Saint Luke’s Health System and Children’s Mercy Kansas City.

Children’s Mercy genetic testing

Genetic testing today can yield personalized treatments for adults with rare diseases or cancer. But those tests don’t always translate perfectly to children, who aren’t always eligible for certain medications cleared for adults.

That’s one of the biggest obstacles for pediatric hospitals seeking treatment plans for patients, said Dr. Joseph Alaimo, director of the clinical molecular genetics laboratory at Children’s Mercy Kansas City.

In October, Children’s Mercy became the first pediatric hospital in Missouri to offer in-house pharmacogenetic (PGx) testing. Its Kiddose PGx test can be used to personalize treatments for children with rare diseases, developmental and behavioral health issues, requiring transplants or with chronic illnesses.

“Now we’re able to strategically design something in-house that targets variants that are important for medications [and] solely for pediatrics and adolescents,” Alaimo said.

Read the full article via The Kansas City Business Journal

For years now, companies behind weight loss drugs like Wegovy and Zepbound have been trying to convince the medical community and the public that obesity is a disease and medications are the answer. It seems the Food and Drug Administration has now shifted its perspective, too.

This week, amid a slew of new recommendations that the FDA released ahead of President-elect Trump’s inauguration, the agency posted draft guidance on obesity clinical trials, the first time it has done so since 2007.

The new draft calls obesity “a chronic disease,” whereas the previous guidance called it “a chronic, relapsing health risk.”

It mentions the importance of lifestyle interventions less than the previous guidance, omitting a reference to lifestyle modification being seen as “the cornerstone of overweight and obesity management.” It also takes a less conservative view of how companies should test drugs in the pediatric population, removing recommendations that drugmakers should first conduct studies in higher-risk adolescents than other children.

Draft guidance documents issued by the FDA are not binding, but revisions, even subtle, provide a look into the agency’s stances; they also have real-world implications for how experimental drugs and devices are assessed and approved.

The new guidance says that trials of any drugs that act in the brain should assess kids for depression and suicidality. But Sarah Hampl, a pediatrician at Children’s Mercy Kansas City, said she would have wanted to see the FDA explicitly recommend companies track changes in children’s overall mental and emotional health and any signs of eating disorders.

“Non-BMI outcomes need to really be a standard for pharmacotherapy trials as well, like self-esteem, body image, anxiety, depression, disordered eating, all those factors,” said Hampl, who was lead author on the American Academy of Pediatrics’ guidelines on obesity.

Read the full article via STAT

Weight Management Program at Children's Mercy

Researchers developed a tool that can collect daily data from insulin pumps and continuous glucose monitors and use AI to predict changes in glucose levels.

The tool can help providers monitor patients remotely and respond more quickly to changes that can increase children’s risk for diabetic ketoacidosis and hospitalization, according to a presentation at the AIMed24 Annual Meeting.

“If you look at continuous outcomes across pediatric to adult transition, we have young people who are having worse and worse glycemic outcomes,” Mark C. Clements, MD, PhD, CPI, FAAP, pediatric endocrinologist and professor of pediatrics at Children’s Mercy in Kansas City, Missouri said in a presentation. “The fact that kids are getting worse and worse from age 8 to 18 [years] is a real problem.”

In 2020, Clements and colleagues set out to solve this problem by founding the Rising T1DE Alliance to create AI-based solutions to these issues.

Read the full article via Healio

Division of Pediatric Endocrinology and Diabetes at Children's Mercy

Children's Mercy Kansas City has developed and launched its own 13-gene pharmacogenomic panel that it runs in-house, citing easier integration into clinical workflows and a desire to cut down on wait times.

The Missouri-based pediatric hospital system has been conducting PGx testing for years to guide prescribing decisions, primarily within its GOLDILOKs Clinic, where pediatricians and pharmacists meet with patients and families with complex medication needs, such as those who have experienced adverse reactions to medications or who aren't responding to standard treatment. Providers consider various factors, including PGx, to pinpoint the "just right" medication and dose.

PGx describes how mutations in certain genes can affect patients' ability to metabolize medications, information that can help physicians decide which drugs to prescribe. Genetics-guided prescribing ideally identifies drugs patients may want to steer clear of based on the risk of potential side effects and efficacy concerns, without the patient needing to try it out and experience those issues firsthand.

For the decade that Children's Mercy has been running the GOLDILOKs Clinic, PGx testing has been conducted by external labs, until this fall.

Providers at Children's Mercy realized they could gain efficiencies by bringing PGx testing in-house: creating their own genetic testing panel with variants of interest for its patient population, running the tests in the hospital system's own molecular genetics lab to have better control over turnaround time, and integrating genetic results directly into the electronic health record (EHR) system.

The test Children's Mercy launched internally, dubbed Kiddose PGx, "is a targeted genotyping test that we custom-designed," explained Laura Ramsey, co-lead of the Kiddose PGx program and section chief for individualized therapeutics in Children's Mercy's division of clinical pharmacology. Children's Mercy has said it is the first pediatric hospital in Missouri to offer in-house pharmacogenomic testing.

Read the full article via GenomeWeb

PRESS RELEASE: Children's Mercy Kansas City First Pediatric Hospital in Missouri to Develop In-House Genetic Test to Personalize Patient Treatment Plans

Children's Mercy Kansas City Genomic Medicine Center

It is a common worry of today’s parents: Is my child addicted to their smart phone and the internet? Specialists say bad digital habits can ruin a child’s ability to socialize in person, to achieve in school, and make developmental problems even worse.

It’s no wonder so many adults try to get their kids off the phone. However, experts and researchers are finding that approach may not only backfire, but the problem may be how much time the parents are spending on their phones.

It turns out, often, the parents themselves were spending hours with their iPhone and that was sending the wrong message. Just ask Dr. Libby Milkovich, a developmental behavioral pediatrician and researcher at Children’s Mercy Hospital.

She specializes in the relationship between parents, children, and technology. Her interest in the subject had a personal beginning: At the time, she had just had a child herself.

“I was there at home with the baby,” said Milkovich, “checking my emails and patient messages.”

She said suddenly she realized something.

“That was interrupting that relationship development that I was having with my newborn infant,” Milkovich said.

She also realized that she probably wasn’t alone.

“So, I thought we should probably have some research around that,” Milkovich said.

See the full story via Fox 4

Children's Mercy Parentish: Eyes up, phones down. Modeling good behavior for teen drivers

Jennifer Watts, M.D., Pediatric Emergency Medicine Physician, Chief Patient Progression Medical Officer and Chief Emergency Management Medical Officer at Children’s Mercy Kansas City, has been honored with the Missouri Hospital Association’s Visionary Leadership Award. The award, established in 1999, recognizes hospital executives who have taken innovative approaches to managing the health of the communities they serve. The award was presented on Nov. 14 at MHA’s 102nd Annual Convention in Kansas City, Mo.

“As a physician and leader, Dr. Jennifer Watts runs toward challenges,” said Jon D. Doolittle, MHA President and CEO. “Her commitment to integrating pediatric emergency preparedness into overall preparedness, and her vision for managing the overall pediatric care capacity regionally have benefited not only Children’s Mercy Kansas City, but the broader community of hospitals and pediatric care stakeholders that serve children.”

As an emergency physician at Children’s Mercy, challenging situations are an important part of Dr. Watts’ job. However, her lifesaving work extends well beyond the emergency department — she leads teams that manage pediatric emergency preparedness locally and statewide, and coordinates overall pediatric care capacity regionally.

Dr. Watts leads the Patient Progression Hub that identifies and manages pediatric care capacity throughout a multistate region. The hub is a hospital operations center that uses predictive analytics and real-time information to optimize care progression and coordination from preadmission to discharge. Deferrals decreased 94% in the first seven months after the hub opened — from 198 to 11 — while delays decreased 86% and ED boarding by 99%. The system also reduces canceled surgeries and pediatric intensive care unit transfer times. These improvements mean better access for pediatric patients.

In her role as an emergency response leader for pediatric care in the Kansas City region, and in coordination with the State Emergency Management Agency, Dr. Watts has prioritized integration of pediatrics into planning and response. Her efforts to build a stronger system were apparent on Feb. 14, where she was on site and delivered pediatric lifesaving care after the shooting at the Kansas City Chiefs’ victory parade.

“Dr. Watts and her team meticulously plan and train for mass-casualty events. While the hope is to never implement these plans, their preparation was instrumental in saving lives,” said Stephanie Meyer, Senior Vice President and Chief Nursing Officer at Children’s Mercy. “Her exceptional leadership in a chaotic situation enabled the team to respond efficiently, providing critical emergency medical care to everyone that day, including several children.”

A video honoring Dr. Watts is available here.

Nearly three-quarters of U.S. adults are overweight or obese, according to a sweeping new study. The findings have wide-reaching implications for the nation’s health and medical costs as it faces a growing burden of weight-related diseases.

The study, published on Thursday in The Lancet, reveals the striking rise of obesity rates nationwide since 1990 — when just over half of adults were overweight or obese — and shows how more people are becoming overweight or obese at younger ages than in the past. Both conditions can raise the risk of diabetes, high blood pressure and heart disease, and shorten life expectancy.

The study’s authors documented increases in the rates of overweight and obesity across ages. They were particularly alarmed by the steep rise among children, more than one in three of whom are now overweight or obese. Without aggressive intervention, they forecast, the number of overweight and obese people will continue to go up — reaching nearly 260 million people in 2050.

The research documented a particularly steep rise in obesity rates — reaching 29 percent in 2021, up from 10 percent in 1990 — among girls and young women 15 to 24.

Dr. Sarah Hampl, a physician from Children's Mercy Kansas City in Kansas City, Mo. said these findings are concerning both for young women themselves and for their potential future children. High maternal B.M.I. before conception, excessive weight gain during pregnancy and high infant birth weight have all been shown to increase the risk of obesity in childhood.

Read the full article via The New York Times

Children's Mercy Weight Management Program

If you’re a teenager on social media, you are probably bombarded by explicit and subliminal messages that make you question your appearance and make you think twice about what you put in your body.

On TikTok for example, you’ll find an avalanche of videos from dieting and fitness influencers telling you what you should eat. But just a few swipes later, you might find a video saying the opposite of what the previous person said.

Good advice is available on social media platforms if you are able to parse through the mixed messages. But if you're a kid who is already dealing with insecurities and anxieties, it can intensify body image issues and harm your relationship with food.

More young people are seeking treatment at Children’s Mercy, says Sara Gould, who runs the hospital’s eating disorders center. That’s especially true since the pandemic. She’s even seeing more frequent visits from elementary school kids.

“Our kids are getting a lot of messages and following dieters or ‘nutrition experts’ and getting a lot of false information or information that’s solely intended to address obesity,” Gould says. “When you apply that in a typical weight person, it’s not healthy. But those kinds of messages are often presented as always the best thing to do.”

Read the full article via KCUR

Dr. Amy Xu got hooked on cheerleading in the fifth grade.

As she pursued the sport in high school and college, she witnessed how the routines started demanding increasingly complex acrobatic feats — tall human towers and tumbling passes with many twists and flips.

It wasn’t unusual for her and her teammates to get concussions and other injuries.

“I saw individuals that are constantly battling through chronic conditions, suffering through acute injuries because it's a sport that requires practice and participation all year long,” says Xu, now an orthopedic resident at the Hospital for Special Surgery in New York.

Xu, who has published research on injuries related to cheerleading, says the sport that isn’t really talked about much in the literature.

Pediatricians are now raising awareness of the risks. For the first time in over a decade the American Academy of Pediatrics has issued an updated statement this week on the risks of injuries related to youth cheerleading, and how to prevent them.

The group is calling for cheerleading to be formally recognized as a sport, and for cheerleaders to get the same resources and support as other athletes.

Dr. Gregory Canty, who co-authored the AAP statement, says he sees cheerleading patients “daily” in his medical practice.

“As the athleticism and the height on [cheerleading] stunts get higher and higher, that leads to an increased risk of injury — and some degree of serious injury,” says Canty, medical director at the Sports Medicine Center at Children’s Mercy hospital in Kansas City, Mo.

Read the full article via NPR

Sports Medicine Center at Children's Mercy Kansas City

In this interview with OncoDaily, John Herriges, a specialist in genetics and genomics, shares his insights about the importance of OGM as a comprehensive technique that can detect structural rearrangements throughout the genome while providing detailed information down to the gene level.

What are some of the most significant advancements in genomic testing technologies over the past few years?

In the cancer realm I think that OGM, which has really come to everyone’s attention the last few years, has the potential to be a real gamechanger as it can help streamline testing for patients and can lead to a better genetic classification of tumors.  There are a lot of other testing advances though that are significant, like long read sequencing, tumor methylation profiling, and RNA sequencing.

Read the full blog via OncoDaily

Children's Mercy Kansas City First Pediatric Hospital to Use Optical Genome Mapping in the Clinical Setting

The Children’s Mercy Research Institute served as the perfect setting to celebrate the elevation of this esteemed group of clinicians, researchers and leaders to academic medicine’s highest achievement and the generous donors who made these endowed positions possible.

Donor investment in endowed faculty positions is highly impactful for an academic health center like Children’s Mercy. Each creates a stable financial foundation that supports the holder’s salary, research and academic activities. As a result, these positions help attract and retain top-tier physicians and researcher by providing them with the resources and recognition need to purse innovative work. They signify a commitment to excellence in pediatric health care, encouraging continuous advancements in medical research, leadership and patient care.

“Endowed faculty positions represent one of the most meaningful forms of philanthropy - leaving a lasting legacy that directly impacts children’s health and well-being. These positions are not only prestigious, but also essential for fostering an environment of innovation and excellence in pediatric medicine,” said Paul Kempinski, Children’s Mercy President and CEO, Alice Berry, DDS, and Katharine Berry, MD, Endowed Chair in Executive Leadership. “The impact: best-in-class experts and care for children and families who call Kansas City and our region home.”

2024 Honorees

Brooke Fridley, MS, PhD
Stanley H. Durwood Foundation Endowed Chair in Health Outcomes

Stephanie Meyer, MS-FNP, RN, NEA-BC
Bernell Hevner O’Donnell, RN Endowed Chair – Chief Nursing Officer

Laura Vricella, MD, FACOG
Elizabeth J. Ferrell Chair in Maternal Fetal Medicine

Thank you to the Stanley H. Durwood Foundation, Dr. Randall and Melva O’Donnell and Jim and Elizabeth Ferrell for their visionary leadership and generosity in establishing these vital positions to ensure Children’s Mercy remains a center of excellence for children and families in our community. Together, we are building a world of well-being for all children.

Learn more about the honorees and donors

Griffin Tomassi was gasping for air when his younger brother found him in the middle of the night on Jan. 12, 2022. Griffin was born with a heart defect, so his family assumed he was suffering from some sort of cardiac emergency.

Griffin’s mother, Heidi Tomassi, remembers watching his staggered breathing while waiting for the paramedics. They did not know he was exhibiting what’s known as the death breath or death rattle, a common symptom of overdoses.

When paramedics arrived, Heidi heard a new word over and over again: Naloxone.

“We later learned that was an opioid antagonist that reverses the effect of opioids,” she says. “And so we knew that we were in for a long road ahead of us.”

Griffin survived his overdose, but recovery has not been an easy process. He’s spent a long time in and out of rehab. It shook his family and opened up a world of questions.

Dr. Michelle DePhillips, a pediatric emergency medicine physician with Children’s Mercy Hospital, says staffers there are seeing more kids who’ve been using opioids for so long they’re suffering from withdrawal symptoms. That’s new, and something they weren’t as prepared for.

“Our resources always lack that of adults. I think they've been seeing this in the adult world for longer than we have,” DePhillips says. “Having the appropriate outpatient resources and therapy for young kids who are experiencing these issues is hard to find.”

DePhillips specified that these services are more available for children over 16, but there are a limited number of providers who will treat those 12 to 16.

Read the full article via KCUR

Six things parents should know about opioids

Learn about safe medication storage

By Eleanor Nash

If you’re sneezing, coughing, or sniffling this fall, you’re not the only one. 

One in three adults has a seasonal allergy in the United States, according to the National Institutes of Health. To make matters worse, Kansas City is the 20th worst city to live with pollen allergies in 2024, according to an analysis by the Asthma and Allergy Foundation of America. 

Dr. Aarti Pandya, an allergist at Children’s Mercy, answered questions about seasonal allergies, also known as hay fever and chronic rhinitis.

Read the full article via The Kansas City Star

Allergy and Immunology at Children's Mercy

An international team of researchers, including researchers at Children’s Mercy in Kansas City, received a $3.1 million grant to investigate a devastating childhood disease.

Children’s Mercy said researchers will use the money to study a deadly childhood disease, leukodystrophy.

It’s a rare genetic disorder that affects 1 in 5,000 children. Doctors say it causes progressive loss of neurological function.

Dr. Tomi Pastinen said the grant will extend genomic tools developed at Children’s Mercy to understand the unsolved leukodystrophies.

He said there are more than 60 forms of Leukodystrophy. Some can be treated – many more have experimental therapies available.

See the full story via Fox 4

PRESS RELEASE: Children's Mercy Kansas City, University of Utah and RI-MUHC Researchers Receive Nearly $3.1M Grant to Study Deadly Childhood Disease

More than 50 types of Leukodystrophy have been identified, which can cause a range of symptoms including seizures and intellectual impairment. Swift diagnosis and intervention are critical as most children diagnosed with Leukodystrophy die before their teenage years.

The research aims to address the diagnostic challenges by leveraging advanced genome sequencing technologies spearheaded by the Genomic Answers for Kids program (GA4K) at Children’s Mercy.

“We are using long-read genome sequencing (HiFi-GS) to uncover genetic variants that are not detectable with standard short-read sequencing to increase the diagnostic rate for complex cases,” said Tomi Pastinen, MD, PhD., Director, Genomic Medicine Center, Children’s Mercy and the Contract Principal Investigator (PI) of the study. “Collaborating with the other PIs, Dr. Josh Bonkowsky from the University of Utah and Dr. Geneviève Bernard from the RI-MUHC on this research underscores our global commitment to addressing rare disease in hopes of accelerating the delivery of crucial interventions and providing answers to families sooner.”

Co-investigators include Scott Younger, PhD, and Isabelle Thiffault, PhD, both of the Genomic Medicine Center at Children’s Mercy.

Dr. Pastinen will take the stage at this year’s RARE Advocacy Summit to share more on this research along with other GA4K updates, “Genomic Answers for Kids is leading the way in diagnosing kids with rare disease with over 8,000 children and total of 15,300 family members involved. We are excited to share this is the fourth NIH grant supporting the program to date,” Dr. Pastinen said.