Children’s Mercy Kansas City, University of Utah and RI-MUHC Researchers Receive Nearly $3.1 Million NIH Grant to Study Deadly Childhood Disease
Recent Findings Announced at National RARE Advocacy Summit Hosted by Global Genes and RareKC
In a significant advancement for pediatric medicine, an international team of researchers from Children’s Mercy Kansas City, the University of Utah, and the Research Institute of the McGill University Health Centre (RI-MUCH) in Montreal, Canada have been awarded a nearly $3.1 million grant by the National Institutes of Health's Eunice Kennedy Shriver National Institute of Child and Health and Human Development (NICHD) to support groundbreaking research in Leukodystrophy, a rare genetic disorder that affects 1 in 5,000 children causing progressive loss of neurological function.
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.