Genetics Research

The Division of Pediatric Genetics continuously seeks ways to provide early detection and prevention of genetic and metabolic disorders and to improve treatments for children and families facing such disorders.

Research opportunities include the areas of:

• Genetics of craniofacial disorders, including cleft lip and palate
• Genetics of preterm delivery
• Genetics of Autism
• Medical education in genetics competence
• Neuropsychological effects of metabolic disorders
• Enzyme replacement therapy for lysosomal storage disorders
• Outcome studies in common inherited metabolic disorders
• Outcome studies in the long term dietary management of PKU

Projects

Principal Investigator

Chin-To Fong, M.D.

• A Phase 4, Open-Label, Prospective Study in Patients with Pompe Disease to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale.  Sponsored by Genzyme Corporation.
• New York State Genetics Screening and Counseling Program.
• Inborn Errors of Metabolism Information System (IBEM-IS) grant from New-York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC).
• Principal Investigator, PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes and Safety Registry from BioMarin Pharmaceuticals (NCT00778206).