Welcome to the Gambello Lab!
My laboratory studies neurogenetic disorders causing intellectual disability or autism spectrum disorders (ASD). We focus on the autosomal dominant disorder tuberous sclerosis complex (TSC) that frequently causes both intellectual disability and autism. We have developed several mouse models to study the neuropathology of TSC. These models also serve as excellent tools for the development of novel therapies. Recently we have begun studying a novel neurogenetic disorder, N-glycanase deficiency, that causes intellectual disability and a movement disorder. We identified these patients in the Emory Medical Genetics Clinic by whole exome sequencing. Both siblings had recessive nonsense mutations in the N-glycanase 1 gene (NGLY1). NGLY1 is involved in the endoplasmic reticulum-associated degradation pathway (ERAD) that disposes of misfolded proteins. We are modeling this disease in the mouse and have started cell biology projects with the glycomics core to understand this newly described disease. We are also collaborating with the Emory Genetics Laboratory to search for more patients. We continue to identify and study new Mendelian neurodevelopmental disorders from patients seen in the Emory Medical Genetics Clinic. We are actively seeking students to join us in exploring these fascinating diseases and help us discover more!