Neurogenetics Program

Advances in basic and clinical research in genetics are rapidly changing the understanding and practice of neurology. The principal goals of the Neurogenetics Program within the Neurology Department are:

• Evaluate and diagnose adult and pediatric patients with complex neurological disorders in which a genetic etiology is considered. These include a wide range of neurodegenerative and neuromuscular disorders, for example various forms of dementia, ataxia, progressive spastic paraparesis and muscular dystrophy. We are also evaluating patients with familial epilepsies, hereditary strokes and other vascular disorders, familial neuroimmunological disorders, leukodystrophies, mitochondrial disorders, brain malformations, chromosomal disorders and many neurodevelopmental disorders such as autism spectrum disorders, among others.
• Our approach focuses on individualized care by providing comprehensive clinical evaluation and we utilize state-of-the-art genomic tools among the complex diagnostic testing. We coordinate our care with other specialists for optimal care of each patient and family, including Yale experts of the Divisions of Neurodegenerative Disorders, Movement Disorders, Neuro-Immunology - Multiple Sclerosis Center, Neuromuscular Medicine and Epilepsy.
• We provide long-term management of patients with a wide range of inherited disorders of the nervous system and counsel family members. We offer potential treatment options and are committed to maintain up to date information on current clinical trials, research protocols and novel clinical initiatives (such as by the Yale Center for Genomic Health), for which patients may be eligible.
• We offer clinical and scientific education on neurogenetic disorders and cutting edge genetic/genomic approaches to medical students, residents and colleagues.
• Faculty in the Department and in Yale’s neuroscience and genetics community include leading scientists and we are involved in innovative collaborative basic and clinical research in neurogenetic disorders, such as work with Yale’s multidisciplinary Program on Neurogenetics and Program in Neurodevelopment and Regeneration. State-of-the art genomic and proteomic tools and advances in stem cell biology are used in gene discovery efforts and in exploring the biological pathways that may underlie childhood developmental or late-onset disorders of the human nervous system.

The Yale Neurogenetics Clinic for all adults and children older than 14 years is held at the Yale Medicine Neurology Clinics, Yale Physician Building, Lower Level, 800 Howard Avenue, New Haven, CT. All patients are evaluated by Dr. Anna Szekely, who is board-certified both in Neurology and Clinical Genetics and Genomics. To request an appointment, please call (203) 785-4085 or (203) 737-5259. The Yale Medicine Neurogenetics Program website also explains how to refer a patient or request a second opinion.