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.

By Frida Humphreville

Children’s Mercy’s new pediatric cancer division has big plans for little ones.

Yong Li, director of the new Molecular Oncology and Cellular Therapeutics division, and Steven Leeder, senior vice president and chief scientific officer, explained what the division will add to emerging research on cancer treatment for kids.

How is this division different from other therapeutic programs at Children’s Mercy?

Li: First, it's primarily for pediatric cancer. That's our endpoint, and current pediatric survival (rates), they are pretty decent. About 80% to 85% of the pediatric cancer patients get more than five years of survival, and the vast majority are considered cured. 

Even for that, 85% is a problem because most of the treatments are highly toxic. So the field is transitioning, not just so you get a patient to survive more than five years, but in a less toxic way, allowing for a normal life span. That's very unique for our center.

Therapeutics is also treating other types of disease, particularly in autoimmune disease, and there is lots of talk about how it can be extended to transplant patients. Many patients with transplant, they have some existing antibody that prevented them from acquiring the new organ, and cell therapy is the key technology moving forward. 

Read the full article via the Kansas City Business Journal

PRESS RELEASE: Children’s Mercy Names Yong Li, Ph.D. To Lead New Program Expanding Hope and Treatment Options for Children Facing Cancer and Other Serious Diseases

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.”  

The events raise money for pediatric cancer research and support for Children's Mercy.

As TODAY's Al Roker reports, since starting in 2010, the Big Slick has raised more than $34 million and continues to grow.

See the full story via The TODAY Show.

Learn more about Big Slick 

The Children's Mercy Cancer Center

Research information for families

For years, faculty and clinicians at both institutions have worked together on projects that bridge discovery and patient care. The idea for a more formalized agreement began when a student sought to collaborate on a Children’s Mercy research project. The student worked with Gerald Wyckoff, Ph.D. chair of pharmacology and pharmaceutical sciences and a UM System Curators’ Distinguished Professor. They got the approval, but found the process proved slow and complex.

That experience prompted conversations about creating a more efficient system. Wyckoff worked closely with two individuals from the Children’s Mercy Research Institute, Mark Hoffman, Ph.D., chief research information officer and Laura Ramsey, Ph.D., section chief of individualized therapeutics, clinical pharmacology, toxicology and therapeutic innovation. Together, they built a new framework designed to build on existing collaboration in a more intentional, structured way, ensuring that opportunities are easier to access and scale.

“Science is a team sport,” Wyckoff said. “This is a really effective team because we’ve got people who are motivated on both ends of the spectrum.”

Under the new agreement, the need for individual, project-by-project administrative approvals has been removed, eliminating a key barrier that often slowed the start of collaborative work.

That speed matters when children’s lives and wellbeing are on the line.

“Together, we are strengthening the pipeline of researchers prepared to tackle the complex challenges affecting pediatric patients,” Ramsey said.

Now, doctoral students can more readily engage with Children’s Mercy research teams, gaining hands-on experience in translational science while contributing to work that directly impacts children’s health.

Researchers at Children’s Mercy now have faster access to emerging talent not only in the natural sciences, but in a broad range of disciplines that can provide valuable skills and knowledge.

“UMKC and Children’s Mercy have a long history of collaboration,” Hoffman said. “This will streamline the process for UMKC Ph.D. students to perform their graduate work at Children’s Mercy. The inclusion of the UMKC School of Science and Engineering opens the door for deeper collaboration in biomedical engineering, AI and other technical topics.”

Christine Getz, Ph.D., dean of the UMKC School of Graduate Studies said this kind of immersive research experience is invaluable for students.

“Access to meaningful, real-world research opportunities is essential to preparing the next generation of scientists,” Getz said. “Being part of translational research allows our Ph.D. students to advance their own education while making a tangible impact on human health worldwide.”

The agreement also establishes regular joint reviews between UMKC and Children’s Mercy, allowing leaders and researchers to proactively identify emerging areas for collaboration rather than waiting for opportunities to arise organically.

The agreement reflects a shared commitment to academic excellence and innovation, positioning students at the center of a vibrant research ecosystem.

Sumeet Dua, Ph.D., UMKC vice chancellor for research and innovation, highlighted the broader significance of the collaboration.

“True innovation happens through strong collaboration,” Dua said. “By aligning the strengths of UMKC and Children’s Mercy, we are putting our students at the forefront of discovery and empowering them to fast-track research from the lab directly to the families who need it most.”

The University of Kansas Health System, the University of Kansas Medical Center, Children’s Mercy and BAMF Health announced in February 2026 their collaboration on a new fully integrated theranostics research and treatment center — one of the first of its kind in the nation. The center will unite diagnostics, molecular imaging, radiopharmaceutical production and targeted therapies under one coordinated platform to provide more precise, less invasive care.

A key feature of the initiative is its strong emphasis on pediatric access. While theranostics is currently used mainly in adult care, Children’s Mercy is among the first pediatric systems to invest early, ensuring children benefit from emerging therapies without delay.

See the full article via the American Hospital Association

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

Children’s Mercy signed a licensing agreement to help bring to market a treatment that could help children and adults with movement disorders and Parkinson’s disease.

The Kansas City-based hospital said it signed an exclusive licensing deal with Vima Therapeutics for VIM0423. The oral treatment, developed by Children’s Mercy researchers, has a Fast Track designation by the U.S. Food and Drug Administration to move to trials.

“This agreement accelerates innovation from the lab to the bedside, turning discovery into care,” Steven Leeder, chief scientific officer for Children’s Mercy Research Institute, said in a release. “It’s more than a licensing deal; it’s a testament to what’s possible when innovation and compassion come together.”

Read the full article via The Kansas City Business Journal

PRESS RELEASE: Children’s Mercy Announces Exclusive License Agreement to Advance Innovative Therapy for Dystonia and Parkinson’s Disease

Turns out that most babies are immune because of germ-fighting antibodies they receive from their moms.

The study, published March 11 in the prestigious journal Nature, dove into new depths to explore why only some babies develop severe infection to common bacteria. E. coli is a common bacteria that lives in the intestines of nearly all people and is a leading cause of severe infection in newborn babies. The research revealed that the babies that became most severely ill from E. coli infections also had markedly lower levels of germ-fighting antibodies transferred from their mothers.

“This helps explain a long-standing question: if most babies are exposed to germs soon after birth, why don’t even more develop severe infection?” says senior author Sing Sing Way, MD, PhD, an expert on how the immune system changes in expecting mothers and babies in the Division of Infectious Diseases at Cincinnati Children’s. “Our findings provide a key missing piece to this puzzle — the antibodies stimulated by the presence of these common bacteria in our intestines protect us against infection. In pregnancy, the natural transfer of these germ-fighting antibodies from mothers to babies in the womb protect the vast majority against infection. In the rare situation when these antibodies are low in mothers or inefficiently transferred, babies are at much higher risk for infection.” 

Exploring why most babies avoid infection

Scientists have long known that newborns are naturally more vulnerable to infection, in large part because their immune systems have not had time to fully mature.

Pediatricians also have known that E. coli is among the most common causes of infection that babies face. Interestingly however, despite almost all babies being exposed to E. coli shortly after birth, severe infection occurs only in about 1 in every 1,000 live births. This discordance prompted the research team to investigate why numbers of babies with severe illnesses weren’t even higher.

Centers team up to study real-world samples

The research involved a collaboration among investigators at Cincinnati Children’s, the University of Queensland in Australia, University of Texas Southwestern Medical Center, Children’s Mercy Kansas City and the University of Missouri Kansas City School of Medicine.

To conduct the study, researchers retrieved dried blood samples collected for routine newborn screening from 100 babies that eventually developed E. coli infection. They compared the antibody levels found in those samples to hundreds of other infants that did not develop infection.

The analysis revealed that antibodies targeting E. coli were consistently reduced in infected babies. Since E. coli can show a lot of variability, a panel of strains isolated from infected babies were used to evaluate the levels of these germ-fighting antibodies.

Mouse studies suggest how to improve protection

Mice used in research are often purposefully raised without any exposure to potential germs including E. coli, and therefore lack these germ-fighting antibodies. Using such mice, the research team found that introducing a probiotic strain of E. coli, called Nissle 1917, to mice before pregnancy stimulates production of protective antibodies that efficiently protect newborn mice against infection. This probiotic is widely available for human use in Europe, Asia and Australia under the trade name Mutaflor.

“Understanding protection takes both types of evidence – what we can evaluate from specimens in human babies that naturally develop infection, and what we can test by experimentally causing infection,” says co-author Mark Schembri, BSc, PhD, from the Institute for Molecular Bioscience at The University of Queensland in Australia. “By strategically combining real-world human newborn screening samples with carefully designed infection models, we can start to pinpoint which antibody targets matter most and how broad protection might be achieved.”

Co-author Susana Chavez-Bueno, MD, of Children’s Mercy Hospital in Kansas City, adds: “Neonatal sepsis can escalate quickly, and doctors need better ways to identify which infants are at highest risk. These findings suggest a path toward earlier risk recognition and prevention strategies built around restoring the missing protective maternal antibodies.”

Next Steps

Looking forward, the co-authors say they plan to develop a screening test to identify newborns at highest risk of severe E. coli infection, and eventually a safe-for-mothers probiotic that could strengthen their own immunity as well as immunity transferred to their babies.

A star-studded fundraiser is returning for its 17th year in Kansas City with familiar fun and some changes.

Big Slick, a fundraiser hosted by celebrities and Kansas City natives, will be back May 29-30 in 2026.

Rob Riggle, Paul Rudd, Jason Sudeikis, David Koechner, Eric Stonestreet and Heidi Gardner will once again host the event, inviting celebrities and friends to join them for a good cause.

Each year, Big Slick benefits pediatric cancer research at Children's Mercy Kansas City. In 2025, the event raised $4.5 million for the hospital.

This year, however, there will be no Celebrity Classic softball game. Due to scheduling limitations with the FIFA World Cup, the Kansas City Royals will not be in town when Big Slick is scheduled. The Celebrity Classic usually takes place before a Royals home game.

Details on tickets and celebrity guests won't be revealed until tickets go on sale in the spring.

Read the full article via KMBC 9

Big Slick Celebrity Weekend

In a clinical genetics lab, a technician is staring at a screen, scanning fresh sequencing data—tens of millions of reads, a line of colored peaks representing one of the four DNA nucleotides—searching for a faint somatic variant hidden in the heterogeneous mess that is a cancer genome. Occasionally, there’s a small bump overlapping the peak, indicating the detection of a different nucleotide in that same position. The lab tech squints, trying to assess if that little bump is indeed a real mutation or just a sequencing artifact. If incorrect, the answer could influence a child’s diagnosis and treatment, which could mean the difference between life and death.

That single uncertainty, distinguishing a true mutation from a technical artifact amid the chaos of cancer genomes, defines much of somatic variant calling. It’s a deceptively simple goal—find the mutations that occur only in tumor cells—but one that’s proven to be remarkably elusive, particularly for long-read technologies that produce different types of errors than traditional short-read methods.

Until recently, even the best tools struggled with that distinction, especially when it comes to long-read sequencing data. But a collaboration between researchers at the UC Santa Cruz (UCSC) Genomics Institute, Google Research, and Children’s Mercy Hospital may have finally given those clinical genomics labs a way to confidently see through the noise. Their new AI-powered algorithm, DeepSomatic, described in a Nature Biotechnology research paper, pushes somatic variant detection to new levels of precision and robustness.

Read the full article via Inside Precision Medicine

The Children's Mercy Research Institute

10 Years of Clinical Whole Genome Sequencing at Children's Mercy

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

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

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

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

Clinicians should prioritize genetic testing for young children who show signs of intellectual disability (ID) or developmental delays, according to a new report from the American Academy of Pediatrics (AAP), a move intended to improve care and outcomes for families.

The clinical report, published in Pediatrics, recommends genome or exome sequencing be used as first-line diagnostic tests in most cases. Chromosome microarray analysis, which looks for genetic differences at a larger scale, is also endorsed as a complementary approach. Together, these tools can identify a wide range of genetic conditions, many of which would otherwise go undiagnosed or be discovered only after years of inconclusive, nongenetic testing.

Pediatricians as Frontline Navigators

Neurodevelopmental disorders — including global developmental delay and ID — affect about 1 in 6 children in the US. But diagnosing these conditions often takes years. The new report aims to speed up that process and ensure clinicians consider comprehensive testing earlier.

Genomic testing can influence medical decisions in a significant number of cases, said Tomi Pastinen, MD, PhD, director of the Center for Pediatric Genomic Medicine at Children’s Mercy Kansas City in Kansas City, Missouri, who was not involved with the report.

“That could be family planning guidance or actual medical management of the child,” Pastinen said.

The new guidance equips pediatricians, often the first point of contact for concerned parents, with a clearer framework for initiating testing, he said.

The AAP identified two paths to diagnosis. First, a phenotype-driven route for children with specific physical or behavioral signs of a known condition. The other is considered “hypothesis-free,” or an agnostic process to use when symptoms are less specific.

Read the full article via Medscape

Children's Mercy Research Institute

Children's Mercy First to Use 5-Base HiFi Genomic Sequencing in the Clinical Setting

Big Slick, Kansas City’s favorite celebrity fundraiser benefiting Children’s Mercy, launched its 16th year with laughs, heartfelt moments and a shared sense of purpose. Many are familiar with the pre-Royals celebrity softball game and T-Mobile Center Big Slick Show, but Big Slick is a three-day event that brings so much joy into our hospital walls — including patient bingo, a magic show, patient visits and Friendly Feud in the Big Slick Auditorium, a space named in honor of the event’s extraordinary impact.

Children’s Mercy President and CEO Alejandro (Ale) Quiroga kicked off the May 30 press conference with an inspiring speech.

“Big Slick happens organically in a city like this,” said Ale. “You can’t build this with a business plan. It takes Kansas City, and it takes Children’s Mercy. For the past 16 years, we’ve raised $25 million and changed how pediatric cancer is diagnosed and treated around the world.”

Ale shared the powerful story of Colin, a 4-year-old patient diagnosed with a rare congenital cancer. Genetic sequencing not only guided Colin’s treatment, it led to testing that revealed a separate cancer risk in his father, prompting life-saving surgery. That same testing is now helping protect Colin’s younger siblings.

“Who would have thought a poker tournament would lead to a life-saving diagnosis for an entire family?” he said.

The hosts reflected on the evolution of Big Slick from its early days as a celebrity poker tournament to a powerhouse weekend of fundraising and community connection.

“Every year it feels like a big hug,” Gardner said. “It’s not just a fundraiser. It’s a family reunion with purpose.”

Asked what they hoped people would remember about Big Slick years from now, the hosts were unified. “That it made a difference,” Sudeikis said. “We love showing off our hometown. We bring people here, and they see how special it is — especially the people and this hospital.”

Big Slick 2025 raised a record-breaking $4.5 million

The hosts and guests, which this year included more than 50 celebrities, gathered Saturday night at the T-Mobile Center for an unforgettable night of performances and fundraising.

One of the most powerful moments of the evening came when the crowd learned about Peter — a cellist, a Boy Scout, an athlete, a chess player… and a fighter. While bravely undergoing treatment for cancer at Children’s Mercy, Peter chose to give back. He started his own fundraiser and donated every penny of his savings — $1,800 — to help other kids like him.

Sadly, Peter passed away just two weeks before this year’s Big Slick. But his spirit and selflessness lit up the T-Mobile Center. After his story played during the show, Peter’s family joined our hosts on stage, where, through heartbreak and with incredible grace, Peter’s father shared his son’s wish: That we continue the fight against cancer in his name.

And the crowd responded. Paddle after paddle went up — many matching Peter’s $1,800 donation — in a wave of love and purpose that helped raise a record-setting $4.5 million.

As always, the highlight of the weekend was the deep connection between the hosts, the hospital and Kansas City.

“Kansas City shows up year after year,” said Riggle. “We just keep the ball rolling — but this city makes the ball bigger.”

By Joseph Hernandez

A fun-filled Saturday night inside T-Mobile Center saw tons of actors, musicians and athletes pool their talents together for one goal: to raise money for Children’s Mercy Hospital.

Donors from all over the world bid on a silent auction with over 50 items, including one-of-a-kind experiences like stunt driving school with “Jackass” star Johnny Knoxville, a self-care day in New York City with “Saturday Night Live” star and Big Slick host Heidi Gardner or a visit to the set of reality TV and comedy show “Impractical Jokers.” 

Ticketed guests also had the opportunity to bid on exclusive items inside the venue as the show was happening on stage, like a “Ted Lasso” experience with Jason Sudeikis that sold for $200,000.

How much did Big Slick 2025 raise? 

So how much did the Big Slick crew of Gardner, Jason Sudeikis, Rob Riggle, Paul Rudd, Eric Stonestreet and David Koechner, flanked by famous friends Patrick Mahomes, Travis Kelce, Kenan Thompson, Katherine McNamara and 40 other stars raise for Children’s Mercy in 2025?

In total, the event raised a whopping $4,530,012 — a new record for Big Slick.

Read the full article via The Kansas City Star

Big Slick 2025

By Lisa Gutierrez

This is in no way shade or disrespect to the many celebrities who come to Kansas City every year to raise money for Children’s Mercy during Big Slick Celebrity Weekend. 

But there are two stars in particular who tend to draw the wildest cheers from the KC crowds: Chiefs quarterback Patrick Mahomes and his football BFF, tight end Travis Kelce. 

So the good news for their fans today is that both are on the guest list for this year’s event. 

The two-day event takes place May 30-31. The annual weekend raises money for pediatric cancer research at Children’s Mercy Kansas City.

As always, this year’s event involves two core events: 

The Big Slick Celebrity Classic Softball Game will take place on the main field at Kauffman Stadium on Friday, May 30, before the Royals play the Detroit Tigers. Everyone with a Royals ticket can watch the softball game, which begins at 5 p.m. 

The Big Slick Party & Show, the weekend’s main event, is Saturday, May 31, at T-Mobile Center. The raucous event includes musical performances, skits and an auction for big-ticket items. 

Tickets, starting at $75, are available at bigslickkc.org.

Read the full article via The Kansas City Star

Researchers at Children’s Mercy Kansas City’s Genomic Medicine Center developed a way to do this from about $200 and in two to three weeks. We spoke to Scott Younger, director of disease gene engineering at Children Mercy Kansas City’s Genomic Medicine Center, about the process, the test it ran to match three children with Duchenne muscular dystrophy to an antisense oligonucleotide therapy, and the potential impact this may have on developing customized therapies for people with rare genetic diseases.

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Press Release: Nature publishes transformative Children's Mercy Research Institute study

The first group of tickets go on sale Tuesday for the 16th annual Big Slick Celebrity Weekend, the star-studded fundraiser for pediatric cancer research at Children’s Mercy Kansas City. 

Kansas City’s homegrown squad of A-listers — Heidi Gardner, Rob Riggle, Paul Rudd, Jason Sudeikis, David Koechner and Eric Stonestreet — host the event and bring lots of celebrity friends with them. 

Kansas City Chiefs stars Patrick Mahomes and Travis Kelce have also appeared at the party and main event at the T-Mobile Center in recent years.

This year’s two-day event takes places May 30-31. Since its first year in 2010 as a celebrity poker tournament and party, Big Slick has raised more than $25 million for the hospital and the children it serves.

Read the full article via The Kansas City Star

Big Slick

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

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.”

The groundbreaking study, titled “Rapid and scalable personalized ASO screening in patient-derived organoids,” was published in the journal Nature. This marks the first time in five years that research led by a Kansas City institution has appeared in the prestigious publication.  

Many labs already generate patient-derived induced pluripotent stem cells (iPSCs), but the process currently takes up to a year and costs between $5,000 and $10,000 per patient. The paper describes a new method that requires only a small number of patient blood cells, can generate iPSCs in just two to three weeks and costs less than $500 per patient. The research team used these patient-derived iPSCs to grow patient-specific organoids, 3-dimensional cell models that recapitulate organ development and function. These organoids are powerful tools for understanding disease biology as well as the development of patient-specific therapeutics. 

“The team can generate iPSCs and organoid models for many patients in parallel, leading to an accelerated evaluation of therapeutic interventions,” said Scott Younger, PhD, Director, Disease Gene Engineering, Genomic Medicine Center, and leader of The Younger Laboratory, Children’s Mercy. “Instead of waiting more than a year for cell models to be generated before experiments could even begin, a family could go from blood draw to diagnosis and/or treatment recommendation in a month or two.” 

The Children’s Mercy Genomic Medicine Center validated the process using samples from three patients enrolled in its Genetic Answers for Kids (GA4K) program with Duchenne muscular dystrophy whose genetic variants were good candidates for treatment with ASOs. They were able to restore dystrophin protein expression and function in patient-derived organoids using an FDA-approved ASO for one patient and customized patient-specific ASOs for the other two patients. 

“Patient-derived organoid models have the potential to be widely used in creating cellular systems for investigating disorders involving the heart, kidney, liver and other tissues, in addition to identifying which medications are likely to be effective for a specific patient and which ones may not,” said Steve Leeder, PharmD, PhD, Interim Executive Director, Children’s Mercy Research Institute. “Having the ability to scale the use of a patient-derived organoid platform uniquely positions us to achieve a ‘bedside-to-bench-to bedside-and beyond’ approach and helps us prioritize the integration of research with clinical care at Children’s Mercy.” 

The research team hopes this method will be adopted by other institutions to provide faster, better care for rare disease patients worldwide. 

“The methods and protocols generated in this study are accessible and can be implemented in any standard research laboratory without the need for specialized equipment or high-cost reagents,” said Dr. Younger. “The widespread ability to generate patient-derived cellular systems will have a substantial effect on the understanding of disease mechanisms as well as potential therapeutic avenues for the treatment of many rare disease.” 

The study’s co-authors are John C. Means, PhD, research scientist, Genomic Medicine Center; Anabel L. Martinez Bengochea, PhD, research scientist, 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.  

By Tara Haelle

Antibiotic management of acute uncomplicated appendicitis among children was inferior to appendectomy, a randomized non-inferiority trial showed.

For nearly 850 children with available primary outcome data, treatment failure at 12 months occurred in 34% of those who received antibiotics compared with 7% of those who underwent appendectomy, a difference of 26.7% (90% CI 22.4-30.9) that exceeded the 20% non-inferiority margin, reported Shawn St. Peter, MD, of Children's Mercy Hospital in Kansas City, Missouri, and colleagues in The Lancet.

Read the full article via MedPage Today

Surgery at Children's Mercy

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

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

The 16th Big Slick Celebrity Weekend will take place May 30-31, 2025, organizers of the charity event announced Tuesday. 

The usual group of Kansas City stars are expected to co-host — Heidi Gardner, David Koechner, Rob Riggle, Paul Rudd, Eric Stonestreet and Jason Sudeikis. An “army of generous celebrity friends” is also promised. 

The event is a “don’t miss” on Kansas City’s activities calendar every year, drawing stars from TV, film and music to town for several days. 

What began in 2010 as a celebrity poker tournament to raise money for Children’s Mercy has become the city’s biggest celebrity event.

Read the full article via The Kansas City Star

Big Slick '25

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

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.

Though appendectomies have been the gold standard of care since before the turn of the 20th century, doctors have been treating appendicitis with antibiotics since the 1950s, as soon as they became available — a “dark secret” in the surgery world, says David R. Flum, professor of surgery and director of the Surgical Outcomes Research Center at the University of Washington. A 1959 paper detailed the use of antibiotics to treat nearly 500 people (a mix of adults and children) with appendicitis. They were — and still are — often used in people whose appendicitis is so advanced that surgery risks spreading the infection further. The military relied on antibiotics for service members who got appendicitis while in inaccessible locations, like submarines.

But the treatment didn’t get wider attention until the late 1990s and early 2000s, Flum says, when researchers began to collect data on how often antibiotics don’t work and found that failure was not as common as they thought.

Then came two large, randomized trials in adults. In the first, published in 2015, 257 adults received an antibiotic treatment. Seventy of those patients, or 27 percent, had to have an appendectomy within one year. But the rest were fine.

A second, larger study of 1,552 adults had similar results: Twenty-nine percent of the 776 people who received antibiotics underwent surgery within 90 days; 4 percent of people in the antibiotics group had serious adverse events, compared with 3 percent in the appendectomy group. The New England Journal of Medicine published the results in 2020. The same year, the American College of Surgeons added nonoperative management as an option in its guidelines for treating appendicitis.

Read the full article via The Washington Post

Surgery at Children's Mercy

An all-star lineup of Kansas City hometown heroes hosted the 15th anniversary of Big Slick May 31 - June 1. 

The weekend raises money for pediatric cancer research at Children's Mercy Kansas City.

TODAY's Al Roker got to play some Friendly Feud and some softball.

He also learned about the impact Big Slick is having for families.

See the full story via TODAY Show

Big Slick '24

Children's Mercy Research Institute

Children's Mercy Cancer Center

When I first heard that the Big Slick Party & Show on Saturday night at the T-Mobile Center was going to revive the old “Saturday Night Live” skit best known as “Da Bears,” I was skeptical about how they’d contour it to modern times and a Kansas City audience. 

But at an event that featured the spectacle of Patrick Mahomes standing on stage throwing autographed footballs auctioned for $15,000 each to Travis Kelce to deliver in the crowd, nearly half the current cast of “SNL” and endless entertainment for a wonderful cause, the act formally known as “Bill Swerski’s Super Fans” struck me as the most memorable performance of the night. 

While the most significant highlight was the show-stopping “reveal” that this weekend’s efforts had raised $3,973,637 (and now $25,002,638 over 15 years) for Children’s Mercy hospital, “Da Bears” bit was downright “SNL”-worthy but all the more resonant because it was scripted for us.

Read the full article via The Kansas City Star

Big Slick '24

Children's Mercy Research Institute

Children's Mercy Cancer Center

In between the wisecracks and giggles and silliness at their press conference Friday morning, the homegrown co-hosts of Big Slick Celebrity Weekend made a point to emphasize what it’s really all about. 

Eric Stonestreet teared up as he recalled a moment musician Philip Bowen shared with a young Children’s Mercy patient. 

“We walked into a little girl’s room last year and she clearly loved Disney and we just said, ‘What’s your favorite Disney song?’ And she said Little Mermaid,” Stonestreet said. “(Bowen) just goes right into ‘The Little Mermaid’ theme and my group just stood there as this little girl swayed along to Philip playing, and then he played another one.” 

“We walked out and Philip literally crumbled to his knees and started crying because he couldn’t believe what he was able to do and witness. In that moment, he said he will never say no to coming here as long as you invite me and that happens with every one of our groups.” 

The celebrity-led charity weekend is back in Kansas City and is the biggest ever. The annual fundraiser celebrates 15 years of benefiting Children’s Mercy, and this year hosts Stonestreet, Heidi Gardner, Rob Riggle, Paul Rudd and Jason Sudeikis assembled the largest assortment of celebrity guests in its history — 59 in total.

Read the full article via The Kansas City Star

Big Slick '24

Children's Mercy Research Institute

Children's Mercy Cancer Center

May is National Brain Cancer Awareness Month and one local family is reflecting on the memory of their late daughter.

Morgan Kottman was just 15 years-old when she died from a rare and incurable brain tumor called diffuse intrinsic pontine glioma (DIPG). This November will be the 10th anniversary of her death.

Her mom, Christine Kottman, says she still thinks about Morgan’s sense of humor.

“She was very bubbly and funny. Laughed a lot,” Christine said.

Dr. Kevin Ginn is a pediatric neuro-oncologist at Children’s Mercy Hospital in Kansas City, Missouri. He was also Morgan’s doctor. He says DIPG is very aggressive and usually only affects children.

“DIPG specifically,” Ginn said, “is one of the tumors that from the first day I meet the family I have to tell them their child is most likely going to die within two years.”

See the full story via KSNT

Research information for families

Children's Mercy Kansas City Cancer Center

This should make a lot of people happy: Sheryl Crow is coming back to perform for Big Slick Celebrity Weekend. 

Two years ago, the nine-time Grammy winner and Missouri native lit up T-Mobile Center with three songs during the fundraiser for pediatric cancer research at Children’s Mercy Hospital. 

This year’s 15th fundraiser takes place Friday and Saturday, May 31 and June 1. Crow will perform Saturday night at the Big Slick Party & Show at T-Mobile, organizers announced Friday. 

And, because sometimes you wanna go where everybody knows your name, actor George Wendt — lovable barfly Norm on “Cheers” and uncle to Big Slick co-host Jason Sudeikis — will also appear.

Read the full article via The Kansas City Star

See the names of all of the celebrity guests coming to Big Slick in 2024

Children's Mercy Kansas City Cancer Center

CMRI collaborated with Salina Pediatric Care, a rural clinic in Salina, Kansas, for a one-year pilot project. Salina is located 175 miles from Children’s Mercy Kansas City. The pilot study, which ran from July 2022 to June 2023, found more than double the historic rate for rare disease diagnosis among the rural population and also cut the time-to-diagnosis by about five months. The pilot project for rural expansion was supported by the National Center for Advancing Translational Sciences of the National Institutes of Health.

Read the full article via Global Genes

Children's Mercy Kansas City Research Institute

Genomic Answers for Kids

The 9th annual Noah’s Bandage Run took place on April 14. The 5k race honors the memory of Noah Wilson, a 7-year-old Johnson County boy who lost his battle to cancer in 2015.

“Noah was a happy kid. He was healthy. He loved sports, loved the Kansas City Royals and Chiefs and he was just a busy kid, but his heart, he just had a heart to help others,” said Noah’s mother Deborah Wilson.

Wilson was diagnosed with a rare form of bone cancer in April 2014 and underwent many treatments. He found comfort in the creativity of a bandage.

“He was poked and prodded multiple times and asked the nurse one day, do you have a fun band-aid, that you could put on and unfortunately they didn’t, they just had the plain ones,” she said.

In the 10 years since the project launched, they’ve fundraised $1.7 million for childhood cancer research at Children’s Mercy. It’s the hospital where Wilson received care before he passed away.

See the full story via KCTV 5

Children's Mercy Cancer Center

Children's Mercy Kansas City Research Institute

By Lisa Gutierrez

The first round of tickets went on sale March 19 for the 15th annual Big Slick Celebrity Weekend, the popular star-studded fundraiser for pediatric cancer research at Children’s Mercy Kansas City. 

Kansas City’s own Rob Riggle, Paul Rudd, Jason Sudeikis, David Koechner, Eric Stonestreet and Heidi Gardner and their celebrity friends return May 31 and June 1. 

“We’ve got some new and exciting guests and we’re going to release that information coming up,” Rudd told The Star. 

The biggest slate of celebrity guests last year helped Big Slick raise more than $3.5 million, a record. Kansas City Chiefs stars Patrick Mahomes and Travis Kelce appeared at the party and main event at the T-Mobile Center. 

To date, Big Slick has raised more than $20 million, helping to attract top medical and research talent by exposing a national audience to the work of the Children’s Mercy Research Institute.

Read the full article via The Kansas City Star

Big Slick Celebrity Weekend '24

Braden’s Hope for Childhood Cancer held its Hope Connect Annual Research Update on March 21 to celebrate the achievements in childhood cancer research made possible by its donors. Hosted at the Children’s Mercy Research Institute, the event featured Braden’s Hope awards totaling $5.5 million, which includes advancing six collaborative research projects led by teams of investigators from Children’s Mercy Kansas City and the University of Kansas Cancer Center.

Dr. J. Steven Leeder, PharmD, PhD, Interim Executive Director of the Children’s Mercy Research Institute, opened the update by emphasizing the importance of collaborative research funded by Braden’s Hope. 

“Thanks to Braden’s Hope our research projects not only include investigators at Children’s Mercy and KU Cancer Center, but those across the US and Mexico. Today, a total of 13 institutions and 42 researchers are involved in Braden’s Hope research projects,” Dr. Leeder said. “This is important because together we are stronger – thanks to Braden’s Hope, we are able to share our knowledge across multiple institutions – with the goal to bring more hope to kids right here in the Midwest.”

Children’s Mercy is the consortium partner with KU Cancer Center—the region’s only NCI comprehensive cancer center. Comprehensive status is the highest level of recognition awarded by the National Cancer Institute and represents the gold standard for cancer centers.

Braden’s Hope funded projects include:

·       Advancing new treatment options for children and young adults diagnosed with Ewing Sarcoma—led by investigators Terrie Flatt, DO, MA, and Andrew Godwin, PhD

·       Developing targeted therapies for children with a uniquely devastating type of leukemia—led by investigators Erin Guest, MD, John Perry, PhD, and Jay Vivian, PhD

·       Identifying drugs that specifically kill sarcoma cells with one Ewing sarcoma Region 1 gene while sparing normal, healthy cells—led by investigators Tomoo Iwakuma, MD, PhD, and Mizuki Azuma, PhD

·       Understanding how a tumor’s genetic makeup affects its response to T cell therapy—led by Midhat Farooqi, MD, PhD

·       Stimulating the immune system to find and kill cancer stem cells by using a classic chemotherapy drug in a targeted way —led by John Perry, PhD

·       Developing a new compound that kills cancer cells lacking p53, an important tumor suppressor found in the body—led by Tomoo Iwakuma, MD, PhD

As part of the update, Deliece Hofen, President of Braden’s Hope, held a panel discussion with the funded researchers who answered questions about their work. Deliece knows first-hand the importance of advancing research for kids. Her youngest son, Braden, battled childhood cancer three times, starting when he was just three years old. During Braden’s second battle with cancer, he faced the words "no known cure" and his odds for survival were less than 10 percent. 

“Thankfully, my son Braden has defied all odds and is now living cancer-free; however, he lives with many long-term health complications based on the harsh treatment he received at such a young age,” Hofen said. “Our goal at Braden's Hope, is for all families to receive the best, cutting-edge treatment available, without having to leave Kansas City. We want to give children and families diagnosed with cancer, hope for a future because no family should ever have to hear the words: no known cure.” 

Children's Mercy Research Institute

Children's Mercy is the first healthcare system to use this world's most advanced genomic sequencing technology in the clinical setting to accelerate diagnoses for even more patients and families.

The cutting-edge technology replaces rapid exome, chromosomal microarray analysis, and other conventional diagnostic testing as a first-line assessment for the most critically ill patients in the hospital with a strong suspicion of genetic disease.

"We are excited about this collaboration that signifies a significant step forward in leveraging cutting-edge technology to further genomic research and clinical care," said Emily Farrow, PhD, CGC, FACMG, Assistant Clinical Director, Clinical Genetics, Children's Mercy Kansas City. Geneyx Analysis will play a crucial role in enhancing our ability to analyze and interpret long read genomic data, ultimately leading to advancements in pediatric healthcare."

"We are thrilled to partner with Children's Mercy in their mission to improve pediatric healthcare through genomic training, research and analysis" said David Yizhar, CEO at Geneyx Inc. "This collaboration highlights the growing importance of innovative technologies in driving progress in the field of genomics."

"We are encouraged to see Geneyx and Children's Mercy Kansas City leverage the foundational HiFi sequencing benefits of higher accuracy and longer reads," said Christian Henry, President and Chief Executive Officer of PacBio. "Geneyx, a PacBio Compatible Partner, brings informatics solutions to accelerate genomic understanding, which may ultimately offer insights to Children's Mercy clinicians to better impact rare pediatric diseases."

Children's Mercy is providing a 4-day short course on next generation sequencing and analysis on June 10-13. The course features hands-on workshop analysis, including long read HiFi sequencing data. In-person and virtual attendance options are available.  

By Donna Pitman

Alli Kisner had the best pregnancy.

She and her husband, Ben, were ready to be parents, even if that was a few weeks early.

“We had the twins at 34 weeks. They spent ten days in the NICU. Then, we had two healthy babies heading home.” Hudson and Hailee, were dreams come true and the couple couldn’t ask for more.

A year and a half after they were born, they got something they never would have asked for: A rare disease diagnosis for Hailee.

“We realized she was aspirating,” Alli recalls.

They spent ten days at Children’s Mercy Hospital where Hailee was tested for geneticabnormalities. That’s when they discovered she has Trisomy 9P, a partial duplication of the ninth chromosome. Only 149 other people in the world have been diagnosed with the condition.

See the full story via KMBC 9

Children's Mercy Kansas City Research Institute

Genomic Answers for Kids

Children's Mercy Kansas City First to Use 5-Base HiFi Genomic Sequencing in the Clinical Setting

By Grant Stephens

You might remember a Kansas teen who spent 457 days at Children's Mercy Hospital fighting a severe lung condition.

KSHB 41 shared Zei Uwadia's journey in 2018.

Uwadia made it home from the hospital in 2019, but died not long after.

Two of her Children's Mercy Hospital doctor's research into her case never stopped and now it's led to a new warning for families.

Zei's mom, Brie Kerschen, remembers feeling uneasy about her daughter's reaction to the antibiotic, Bactrim.

"We all had this gut feeling like something's not right, but there was no evidence to support it," she said. 

See the full story via KSHB 41

Children's Mercy Pediatric Intensive Care Unit

Children's Mercy Kansas City ECMO Program

Paul Kulesa, PhD, joined Children’s Mercy Kansas City on February 5 as a Professor of Pediatrics in the Division of Developmental and Behavioral Health. Dr. Kulesa will continue his groundbreaking work in developmental neurosciences to further enhance the Division’s research program. In addition to his role in research, he will partner with local, regional and national institutions to train the next generation of neuroscientists.

“We are excited to have Dr. Kulesa bring his cutting-edge research to Children’s Mercy,” said Jeanne James, MD, MBA, FAAP, Chair of the Department of Pediatrics. “He will lead efforts to develop state-of-the-art research capabilities in imaging and computational modeling to observe and predict how complex cell behaviors give rise to form and function. Dr. Kulesa’s work is truly directed at the basis of neurodevelopment and the underpinnings of behavioral health in children.”

Dr. Kulesa is a quantitative developmental biologist. His expertise lies at the intersection between biology and mathematics. He collects multi-scale data and constructs models to explain complex biological phenomena such as collective cell migration —a process essential to development of the nervous system and disease. His research focuses on neural crest cell development and how mistakes in migration and patterning lead to human birth defects and disease. Neural crest cells are highly migratory embryonic cells in vertebrates —animals with backbones. 

“I am honored and delighted to join the Children’s Mercy team,” said Dr. Kulesa. “Through basic research in complex biological phenomena, we are poised to better understand early human development and help clinicians overcome challenges that lead to improved quality of life for sick children.”

Dr. Kulesa has been the principal investigator on multiple projects funded by the National Institutes of Health, including the following three ongoing projects: “Investigating the Relationship Between Sympathetic Nervous System Development and Neuroblastoma;” “A Novel Platform to Enhance Single Cell Interrogation of Nervous System Development;,” and “Application of Gabriella Miller Kids First Pediatric Research Data to a Predictive Model of Neuroblastoma.”

Before joining Children’s Mercy, Dr. Kulesa was the founding Director of Imaging at the Stowers Institute for Medical Research. During his almost two decades at the Stowers Institute, he established an internationally recognized program in neural crest cell biology. While there, he trained students in techniques to study cell migration during vertebrate development, using neural crest and neural crest-derived cancer models. Following his work at the Stowers Institute, he was the Berthiaume Family Professor of Neuroscience at the University of Notre Dame.

Dr. Kulesa received postdoctoral training in developmental cell biology and imaging at Caltech, a PhD in applied mathematics from the University of Washington, an MS in applied mathematics from the University of Southern California, and a BS in aerospace engineering from the University of Notre Dame.

Like a lot of sectors, the biopharma industry kicked off a tumultuous year with a number of shakeups. Big and small biotech companies alike saw thousands of layoffs, not to mention significant leadership changes.

But 2023 also saw a number of technological advancements hit some major milestones, not to mention some big changes in how investors are approaching the sector. “There's gonna be a lot of building this year,” Vijay Pande, a general partner at Andreessen Horowitz had predicted to Forbes in January — and he wasn’t wrong.

Whole Genome Sequencing Enters The Clinic

Since the Human Genome Project was completed in 2003, there have been significant advances in genome sequencing, making it better, faster and more useful. To get the speed required for applications like diagnostics, sequencers would chop DNA up into tiny bits so they could be quickly “read” and put in order. This produced powerful advances but limited how much information researchers and doctors could obtain about a person’s genes.

That’s recently changed with the advent of what’s called “whole genome” sequencing, which allows DNA to be cut in larger chunks in ways that make it easier for sequencing machines to put them back together in the right order. This technology enables an understanding of the structure of a person’s DNA, which provides a better understanding of how those genes actually work in a person’s body.

In 2023, whole genome sequencing made some strides out of research labs and public health applications and into actual clinical practice. Earlier this month, Orchid, a startup backed by 23andMe Cofounder Anne Wojcicki and Coinbase CEO Brian Armstrong, announced that its whole genome sequencing of embryos is now available in IVF clinics. These reports enable prospective parents to screen embryos for genetic risks and improve the chance of having a viable pregnancy.

And in October, Kansas City-based Children’s Mercy Hospital announced it was putting its whole genome sequencers, manufactured by PacBio, into clinical practice. This will enable the hospital to accelerate its ability to diagnose genetic diseases in its patients, Tomi Pastinen, the hospital’s genomic medicine director, told Forbes. He added that he also hopes that his hospital’s decision will inspire others to do the same. “We hope that clinical adoption is the catalyst to really open the floodgates for these types of genome sequencing,” he added.

Read the full article via Forbes

Children's Mercy Kansas City First to Use 5-Base HiFi Genomic Sequencing in the Clinical Setting

Children's Mercy Kansas City Research Institute

Genomic Answers for Kids