Rate My Professor Alexander Bassuk

Bassuk's research investigates genetic and molecular mechanisms of neurological, retinal, and inflammatory diseases, with emphasis on epilepsy, autism, intellectual disabilities, neural tube defects, traumatic brain injury, and retinal degeneration. Key discoveries include mutations in the PRICKLE1 gene associated with epilepsy phenotypes in model organisms and CAPN5 mutations causing autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), as detailed in his 2015 PLOS ONE publication 'Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.' He has authored over 130 peer-reviewed papers, amassing more than 8,500 citations, and leads multiple NIH-funded grants. Bassuk recruits for the NIH Child Neurologist Career Development Program, serves on the Pediatric Scientist Development Program selection committee, and testified before the U.S. Congress in 2024 supporting the Accelerating Kids Access to Care Act for rare disease patients. His laboratory employs neuroanatomy, molecular biology, protein biochemistry, and genetics to study ion channels, receptors, gene regulation, and copy number variations in human disease.