CCfK Small Grant Program 2022 Recipients
Cool Cars for Kids awarded four different grants to clinicians and researchers at the Children's Hospital of Philadelphia last year with the money raised from the 2022 Philadelphia Concours event. CCfKs small grant program provided funding opportunities to support patient community and outreach as well as basic science research in rare genetic diagnoses. Each of the awardees were given funds for a one-year period to support their work and further our broader mission of raising awareness and accelerating research in the rare disease community.
The first grant was awarded to Dr. Diva DeLeon-Crutchlow in the department of Endocrinology at CHOP to support a family meeting for congenital hyperinsulinism (HI). The HI family meeting was held April 15th and 16th, 2023 at CHOP and will bring together the CHOP HI Center team, other world-renowned physicians, researchers and specialists, HI family members, and advocacy leaders. What is HI? Check out this video from the CHOP HI team!
Dr. Diva DeLeon-Crutchlow
CCfK was proud to award Dr. Cara Skraban, attending physician in the CHOP Roberts individualized Medical Genetic Center (RIMGC), a grant to support the Skraban-Deardorff syndrome family meeting held at the Children’s Hospital of Philadelphia in July 2022. This award supported the 3rd family meeting for this novel condition discovered by clinicians here at CHOP and Children’s Hospital of Los Angeles. Twenty-two families were in attendance over a 3-day event. The family meeting brought together the team of clinicians and scientists working to further elucidate the clinical spectrum of the condition and the underlying molecular mechanism with the goal of improving the lives of the children.
Dr. Skraban and Dr. Deardorff with kids at the third Skraban-Deardorff Syndrome family meeting which was supported by CCfK. For more information about Skraban-Deardorff Syndrome, visit https://www.skdeas.org/
Dr. Skraban, Dr. Deardorff and genetic counselor Katie Grand
Dr. Kosuke Izumi, attending physician in the RIMGC, and Dr. Ramki Rajagopalan, Director in the Division of Genomic Diagnostics, were awarded another small grant from CCfK to test the utility of DNA methylation profiling in Pallister-Killian Syndrome (PKS). These funds will help support development of a novel clinical genomic test for PKS. CHOP is the only institution in the world that has a multi-specialty clinic dedicated to PKS which is also led by Dr. Kosuke Izumi. Read about Valerie, a patient of the CHOP PKS clinic:
Dr. Kosuke Izumi
Lastly, Drs. Laura Bryant and Emily Durham, senior postdoctoral scholars in the laboratory of Dr. Elizabeth Bhoj, of the department of pediatrics were awarded funds to support their investigation of a novel pediatric neurodevelopmental syndrome caused by de novo heterozygous missense variants in Histone H3.3 (H3.3). The funds from CCfK were being utilized to validate craniofacial and neurological phenotype of a mouse model and determine the mechanism of action of a specific missense variant in H3.3 to help gather data for future funding.