Neurologist Alexander R. Paciorkowski, M.D. is being honored by the American Neurological Association (ANA) for his research in developmental disorders. The award will be presented at the ANA’s annual meeting in October 2016.
Paciorkowski ‘s research focuses on early life epilepsies and his research has shed new light on mechanisms of a severe form of seizure disorders – early myoclonic encephalopathy, Ohtahara syndrome, and infantile spasms – collectively referred to as developmental epilepsies. Specifically, Paciorkowski has identified a mutation in a gene called salt-inducible kinase 1 (SIK1), a gene previously unidentified with the disease and one which researchers believe plays a role in a chain reaction of gene and protein interactions in neurons that contribute to seizures.
“Alex is a rising star in neurogenetics and child neurology who, just four years out of fellowship, has already made major contributions to our knowledge about human neurodevelopment genetics and disorders,” said Jonathon Mink, M.D., Ph.D., chief of the Division of Child Neurology and vice chair of the Department of Neurology at University of Rochester Medical Center (URMC).
Paciorkowski is an assistant professor of Neurology, Pediatrics, Biomedical Genetics, and Neuroscience at URMC and is also a principal investigator in the Center for Neural Development and Disease. He also serves as director of the Neurogenetics Consultation Service, Hereditary Ataxia Program, and Neurofibromatosis Program.
The Derek Denny-Brown Young Neurological Scholar Award, ANA’s highest and most prestigious award, recognizes neurologists and neuroscientists in the first 10 years of their career who have made outstanding basic and clinical scientific advances toward the prevention, diagnosis, treatment, and cure of neurological diseases.