Programs & Services | Overview
The Division of Genetics and Genomics offers a variety of programs offering integrated care for patients with different genetic conditions. They include the following — but if you don’t see your condition represented, or are not sure which program is most appropriate, please contact us.
Specialty genetics clinics
Brain Development and Genetics Clinic
Bridging the fields of neurology, cardiology, and genetics, the BrDG Clinic helps patients with disorders of brain development or brain structure.
Cardiovascular Clinic for Brain Development
Caring for patients with periventricular nodular heterotopia (PVNH), a developmental brain disorder that also causes cardiovascular disease.
Cardiovascular Genetics Program
Staffed by cardiologists and clinical geneticists, this clinic serves children and adults with genetic heart conditions such as Marfan syndrome, Noonan syndrome, and Velo-Cardio-Facial syndrome.
Connective Tissue Genetics Program
Providing integrated care for patients of all ages with connective tissue diseases, including Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, and others.
Cornelia de Lange Syndrome (CdLS) and Related Disorders Clinic
A multidisciplinary clinic for patients with known or suspected Cornelia de Lange syndrome (CdLS) or a related condition, sometimes called "cohesinopathies."
Craniofacial Genetics Program
We work with the general Craniofacial Program to provide genetics services for families with such conditions as cleft lip, cleft palate, craniosynostosis, Apert syndrome, and more.
A specialty clinic for children and adults with known or suspected epigenetic or chromatin disorders, which affect genes that regulate which other genes are turned on or off.
Fragile X Program
Providing diagnostic evaluations, genetic counseling, occupational therapy, and behavioral and developmental services to children and adults with Fragile X syndrome.
Providing comprehensive care for children and adults with galactosemia caused by GALT enzyme deficiency, and the related disorders of GALE and GALK deficiency.
Lysosomal Storage Program
Bringing together specialists in genetics, metabolism, cardiology, and neurology to serve families with Gaucher disease, Tay-Sachs disease, and related disorders.
Providing comprehensive evaluation and treatment for infants, children, and adolescents with a wide variety of metabolic disorders.
Neurofibromatosis (NF) Program
Offering comprehensive diagnostic evaluations, genetic counseling, and follow-up care by pediatric specialists from many medical areas, including ophthalmology, endocrinology, orthopedics, and neuro-oncology.
Pediatric Cancer Risk Program
Providing integrated care to patients and their families whose condition or family history suggests an increased risk of cancer.
Dr. Harvey Levy Program for Phenylketonuria and Related Conditions
Roya Kabuki Program
Providing a medical home for children and adults with known or suspected Kabuki syndrome. See also www.royakabuki.org.
Additional resources and programs
Clinical Trials: Visit our Clinical Trial Finder and search by a condition or genetics specialty.