Your impact on discovery
You make it possible to bring world-class breakthroughs directly to children. Here are just some of the ways the generous support of our donors is making a real difference.
Understanding rare disease: Genomic Answers for Kids is a critical and unique research project dedicated to kids. With support from the community, researchers at Children’s Mercy are in the process of collecting genomic data and health information for 30,000 children and their families and building a first-of-its-kind pediatric data repository of nearly 100,000 genomes. This data could lead to accelerated diagnoses and treatments for unknown diseases threatening kids here at home and across the globe. Currently, no one else is focusing on children. Of the 10 U.S.-based genomic sequencing programs, all are adult-only.
Our journey to a diagnosis was very frustrating. He kept getting worse and we didn’t know if we’d ever find out why. Receiving a diagnosis through Genomic Answers for Kids was a huge relief.
Decoding Jaden’s genetic puzzle: Recent advances in genomic testing gave Jaden’s family the long sought-after answers for his many health challenges. Through the unparalleled services of our Genome Center, Jaden was diagnosed with the CHD3 gene mutation, also called Snijders Blok-Campeau syndrome. Jaden is only the 36th individual in the world diagnosed with this rare disorder, which causes developmental, intellectual and speech delays, autistic-like features, sleep disturbances and behavioral problems, muscle weakness and more.
Pioneering the power of precision therapeutics in the NICU: CMRI is at the forefront of research that could lead to practicing precision therapeutics in the NICU for the first time. The need for this approach arises from the fact that more than 80% of medications used in the NICU are not approved by the FDA for use in babies and may not have been adequately studied, making babies’ responses to these medications variable and unpredictable. By considering a baby’s age and genetic makeup, the approach involves personalizing a medication dose that will maximize efficacy and minimize toxicity.