Dr. Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. Her clinical work focuses on finding a unifying genetic diagnosis for children with rare neurodevelopmental disorders. Her research is informed by her patients and focuses on understanding how genetic changes, in particular those affecting mitochondrial function, cause disease so we can develop better treatments for these children in the future.
Dr. Bhoj's genetics research aims to discover new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, Dr. Bhoj focuses on three novel genes that lead to pediatric neurologic dysfunction: TBC1 domain-containing kinase, Histone 3.3 (H3F3A and H3F3B), and MAP4K4.
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.
The Bhoj Lab is a genetics lab that discovers new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, the lab focuses on three novel genes that lead to pediatric neurologic dysfunction: TBCK, H3F3A/B, and MAP4K4.