Clinical Director, Hunter James Kelly Research Institute; Associate Professor of Neurology, Pediatrics, and Physiology and Biophysics
Child Neurology; Children and Adults; Developmental Neurology; Neurology; Pediatrics
My research was focused originally on using astrocyte cell cultures to shed light upon processes related to astro-gliosis, the key response of developing and mature brain to injury. The laboratory succeeded in modeling many immunochemical features of gliosis in primary brain cell culture. More recently, I have been involved in the clinical care of, and research regarding, children with leukodystrophies. This includes coordinating several clinical research projects in roles as Clinical Director of the Hunter James Kelly Research Institute (HJKRI), and as President of the New York State Krabbe Disease Consortium. Projects include expansion of the World Wide Registry for Krabbe Disease (WWR), a database maintained at HJKRI that now has clinical and genetic information for over 150 affected patients afflicted with this rare disease, and examining ways to involve the WWR in national data-sharing initiatives promoted by the NIH, including the Newborn Screening Translational Research Network (NBSTRN). HJKRI is also conducting long-term follow-up studies of affected children, in conjunction with the Rare Clinical Disease Research Network (RDCRN) examining neuro-developmental parameters before and after therapeutic transplantation. Additional projects include exploration of the genotype/phenotype relationship in Krabbe, including exome and whole genome analyses with collaborators, and participating in research to uncover new biomarkers and to develop novel therapies. I am also the Director of the Headache and Concussion clinics at Children’s Hospital of Buffalo. These clinical leadership roles in Western New York and New York State can facilitate significant recruitment into multi-center research studies.