ÌÇÐÄvlogÃÛÌÒ the Lab
Dr. Holder opened up the Holder Lab in the Jan and Dan Duncan Neurological Research Institute, and Dr. Holder has established a SHANKopathy clinic at Texas Children’s Hospital in order to provide care for children demonstrating both loss and gain of function mutations within this gene.
Our research team focuses on several critical areas, including SHANK3 genetic modifiers, human SYNGAP1 iPSC-derived neurons, and deep phenotyping of SYNGAP1-DEE. We also explore sulfamidase genetic modifiers and conduct neuropsychiatric gene discovery to better understand and treat these complex conditions.
Principal Investigator
Jimmy Holder, M.D.
Lab Projects
Lab Members
Clinic
Mutations in genes encoding synapics proteins cause neurodevelopmental disorders. In our synapopathy clinic, we see children and adults with multiple synaptopathies including Phelan-McDermid Syndrome, SNYGAP1-DEE, STXBP1-DEE to name a few.
Dr. Holder and his team meet with patients from around the world to formulate treatment plans.