Many neurodevelopmental disorders are the result of loss of one functioning copy of a critical gene – a condition referred to as haploinsufficiency. One way to treat haploinsufficiency is to add back a functional copy of the gene in question – a process called gene replacement. Dr Beverly Davidson leads the development of gene replacement therapy at ENDD. The Davidson lab is focused on understanding the molecular etiology of several genetic neurological diseases and developing gene-targeted therapies to treat neurodegenerative disorders (Spinocerebellar Ataxia, Huntington’s disease, Amyotrophic Lateral Sclerosis), lysosomal storage disorders, and neurodevelopmental disorders (STXBP1). Using advanced imaging and sequencing methods their focus is on understanding why certain brain regions are more susceptible than others and improving methods to treat these disorders. A primary therapeutic focus is developing evolved adeno-associated viral (AAV) capsids for enhanced delivery of gene replacement therapies, as well as developing novel tools to regulate the expression of delivered genes.
At ENDD, we are developing and testing gene-targeted therapies for STXBP1 and SYNGAP1 disorders in human induced pluripotent stem cell (hiPSC) models and (humanized) mouse models of STXBP1 and SYNGAP1 haploinsufficiency.