- To evaluate and diagnose patients, both adult and pediatric populations, with complex neurological disorders in which a genetic etiology is considered, provide long-term management of patients with a wide range of inherited disorders of the nervous system (including neurodegenerative and neuromuscular disorders, familial epilepsy, genetic forms of stroke and other vascular disorders, familial neuroimmunological disorders, neurodevelopmental disorders of children, autism spectrum disorders) and counsel family members. We offer potential treatment options and provide information about research protocols for which patients may be eligible.
- To provide ongoing education in the area of neurogenetic disorders and cutting edge genetic approaches to medical students, residents and visiting colleagues.
- To carry out basic and clinical research, including collaborative 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 Neurogenetics Clinic for adults and children older than 14 years is held once a month. All patients are seen by Dr. Anna Szekely, board-certified both in Neurology and Medical Genetics. In addition, Dr. Szekely and Dr. Margretta Seashore, Professor of Pediatrics and Genetics, hold a monthly joint Pediatric Neurogenetics Clinic for young children.