Clinical Genetics at Yale School of Medicine has a long and distinguished history of advancing the understanding of inherited disorders and providing outstanding care to patients and families with a genetic disorder or suspected of having such a disorder. Informed by transformative basic and translational research, highly trained Yale genetics physicians and support staff provide comprehensive diagnostic evaluations, genetic counseling, and care for children and adults affected by a wide variety of rare and complex inherited and congenital conditions. The full spectrum of state-of-the-art genetics laboratory services, including molecular and cytogenetic diagnostic laboratories, are housed within the Department. Comprehensive and compassionate clinical care of the highest quality is provided by a team of highly experienced physicians who specialize in medical genetics, genetic counselors, nurse practitioners, nutritionists, and laboratory geneticists who value collaboration and respect for individuals and families. Recognizing its stature in the field, the Department has been designated a Center of Excellence for rare diseases by the National Organization of Rare Disorders. It is committed to improving access to and care for patients with rare disorders. Appointments for a genetic evaluation can be scheduled by calling (203) 785-2660 . Your health care provider must make a referral for genetics evaluation via the EPIC electronic medical record, and our schedulers will contact you to schedule an appointment. The mission of Clinical Genetics is: To provide outstanding and compassionate clinical care to patients by applying the most recent diagnostic and therapeutic advances based on cutting-edge basic and translational genetic/genomic research To provide outstanding training for clinical and laboratory geneticists, empowering them to become leaders in the seamless integration of genetics and genomics across the entire field of medicine. To advance the field of genetics and genomics medicine through the innovative research programs housed in our department and university. Patient care General Genetics Clinic for Children and Adults. We provide comprehensive diagnostic evaluations, follow-up, and management for children and adults with a large variety of medical problems, including: Birth defects Chromosomal abnormalities Abnormal results of newborn screening Inborn errors of metabolism Intellectual disability Autistic spectrum disorder Developmental delay Neurocutaneous disorders Childhood and adult genetic syndromes Hereditary cancer syndromes (link to cancer counseling ) Individuals suspected to have a genetic disorder Note: We care for patients and families with many other genetic disorders. Please contact us at (203) 785-2660 if you have questions about whether a patient should be referred for genetic consultation. Specialty clinics Down Syndrome Program Craniofacial Program Neurofibromatosis Program We provide dia

Yale’s Department of Neurology has been at the forefront of cutting-edge clinical care and scientific discovery since it began in 1952. It was Yale scientists who discovered the genes that cause Multiple Sclerosis. Yale housed one of the first epilepsy monitoring units in the country, and one of the first stroke centers at its partner, the Veterans Affairs (VA) Center in West Haven. Today, our team of experienced doctors are committed to understanding and treating the entire spectrum of nervous system diseases. Expert physicians specialize in brain and nerve health for both children and adults. Specialized care is offered in the following areas: Amyotrophic lateral sclerosis (ALS), myasthenia gravis, peripheral neuropathy, neuromuscular disorders Alzheimer’s disease/cognitive disorders Epilepsy and neurophysiology General neurology, headache, pain Multiple sclerosis and neuroimmunology Neurodegenerative disorders Neurocritical care Neurological infections Neuro-oncology Parkinson’s disease and movement disorders Stroke and vascular neurology

We are committed to excellence in all areas of musculoskeletal care. Our physicians treat a variety of bone, joint, nerve, and muscle ailments across many orthopaedic specialties. Our physicians work in conjunction with primary care and specialty physicians to treat both common and complex musculoskeletal problems. We're here to help with all aspects of orthopedic care. Whether you are seeking treatment for a minor injury or a serious orthopedic concern, our skilled doctors are experienced in minimally invasive improvements, as well as procedures like joint reconstruction and replacement surgery to help you get moving again. Some of the more common conditions our specialists treat include: Spinal problems, including degenerative conditions, disk herniations, scoliosis, spinal stenosis, fractures, and tumors Shoulder problems, including rotator cuff disease, arthroscopic surgery, arthritis, joint replacement, fractures, and instability Elbow problems, including arthritis, fractures and dislocations, joint replacement, and instability Hand and wrist problems, including arthritis, fractures, arthroscopic surgery, joint replacement, and artery and nerve repairs Pelvis and hip problems, including arthritis, arthroscopic surgery, joint replacement, and fractures Knee problems, including ligament and meniscal tears, arthritis, arthroscopic surgery, joint replacement, and fractures Foot and ankle problems, including tendon and ligament repairs, fractures, arthritis, and joint replacement Pediatric problems, including congenital deformities and fractures Tumor and limb salvage surgery