Clinical Genetics Comprehensive Programs and Services

Chromosome 22q Clinic

A specialty clinic for treatment and management of DiGeorge Syndrome in children. Also known as 22q11.2 deletion syndrome, DiGeorge syndrome and velo-cardio-facial syndrome, 22Q disorder results when a small segment of the 22nd chromosome is missing.

Ion-Channel Epilepsy Program

The Ion-Channel Epilepsy (Dravet syndrome) Program provides comprehensive care for children with genetically based epilepsy referred from all over the country. The multidisciplinary team includes neurologists and genetics specialists and offers diagnostic screening and the latest medical management, including participation in emerging clinical trials.

Metabolic Clinic

Clinic for the treatment of inborn errors of metabolism and center for enzyme replacement therapies for lysosomal diseases. Our multidisciplinary team of specialists provides comprehensive and individualized care for patients with genetic metabolic disorders.

Rare Chromosomal Disorders Program

The Rare Chromosomal Disorders Program offers a multidisciplinary team of geneticists, neurologists, and other specialists to address the complex needs of children with rare chromosomal disorders that often have multisystem involvement.

Tuberous Sclerosis Program

One of the first comprehensive programs for children in the United States to offer expertise in multisystem management of uncontrolled epilepsy and cardiac involvement. Offerings include some of the safest, and least invasive strategies, including laser ablation to cure intractable seizures, management of infantile spasms, as well as use of the ketogenic diet.