Check out the most exciting research news from The Children’s Hospital of Philadelphia this week. From leading a group of international researchers who identified a new syndrome to working on a prestigious panel that will give guidance about ways to advance treatments for children with cancer, CHOP researchers are putting pediatric research in motion.
This information is intended for families and caregivers of patients with mutations in the TBC1 DOMAIN-CONTAINING KINASE (TBCK) gene, including clinical data, molecular data, management and research options.
Thousands of children are suspected to have a genetic disorder but have no diagnosis, even after expert evaluation. Many of these children have yet-undiscovered genetic syndromes, and the Bhoj Lab aims to provide answers to families about their child's medical issues and work toward targeted therapies for genetic disorders. The lab uses advanced sequencing technology to identify these novel syndromes. Two of the syndromes focused on in the lab are caused by disruption of Histone 3.3 (H3F3A and H3F3B) and TBC1 domain-containing Kinase (TBCK).