Neurogenetics

We are one of the few programs in New York State with physicians who are board certified in both child neurology and medical genetics. 

Our collaborative specialty clinics include:

• Batten Disease Center
• Hereditary Ataxia Program
• Leukodystrophy Care Center
• Neurofibromatosis Program
• Pediatric Neuromuscular Clinic (DMD, SMA, Hereditary Neuropathy programs)

We see patients with a broad range of developmental disorders, including:

• Epilepsy
• Developmental/intellectual disability
• Autism 
• Developmental encephalopathies
• Angelman syndrome
• Fragile X syndrome
• Chromosomal disorders
• Neurometabolic disorders
• Mitochondrial disorders
• Brain malformations
• Muscular dystrophies and myopathies
• Neurocutaneous disorders (Tuberous sclerosis, Neurofibromatosis)
• Leukodystrophies
• Ataxias
• Batten disease

At University of Rochester Medicine, our genetic counselors and providers work closely with experts in a wide range of disciplines such as neurology, cardiology, nephrology, and oncology. We have Certified Genetic Counselors, Kelly Querfurth Minks, M.S. and Jordan E. Bontrager, M.S. on staff.

Because we are a major referral center for the region, we have experience working with patients with rare genetic conditions. And because we’re an academic medical center, our patients may have the opportunity to participate in clinical trials for new medications and treatments. 

The Division of Pediatric Genetics at University of Rochester Medicine Golisano Children's Hospital provides services to newborns, children, teens, and adults who have genetic and metabolic disorders. Each year, we care for more than 1,000 patients. We strive to help patients and families understand the nature of their disorder, so that together we can manage their condition effectively.