Researchers in Kansas City, Utah, and Montreal awarded $3.1M for genetic disease study

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 in Montreal has received a $3.1 million grant from the National Institutes of Health. This funding is aimed at advancing research on Leukodystrophy, a rare genetic disorder that affects approximately 1 in 5,000 children and leads to severe neurological decline. The urgency of this research is highlighted by the fact that many affected children do not survive past their teenage years. The research will utilize advanced genome sequencing technologies, specifically long-read genome sequencing, to identify genetic variants that traditional methods may miss. This innovative approach is expected to improve diagnostic rates for complex cases, which is crucial for timely intervention. Dr. Tomi Pastinen, the principal investigator, emphasizes the collaborative effort among the research teams to tackle the challenges posed by rare diseases. The personal story of Conner, a child diagnosed with cerebral adrenoleukodystrophy, underscores the critical need for swift diagnosis and treatment. His mother, Kirsten Finn, shares the devastating impact of the disease and the hope that this research brings to families facing similar challenges. The initiative aims to change the narrative around treatment windows for such conditions. Additionally, the Genomic Answers for Kids program, which is part of this research, has already involved over 8,000 children and their families. This initiative aims to create a comprehensive pediatric data repository to facilitate the search for answers and novel treatments for genetic conditions, marking a significant step forward in pediatric medicine.