Mission
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.
Clinical Services
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
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Neurofibromatosis Program
We provide diagnostic evaluations and ongoing care for children and adults in collaboration with multiple specialists in neurology, surgery, dermatology, renovascular disease, orthopedics, ophthalmology, and oncology. -
Cardiovascular Genetics Program
Collaborating with pediatric and adult cardiologists, we provide diagnostic evaluations and clinical care for inherited cardiomyopathies, genetic syndromes with congenital heart disease, Marfan syndrome, and related disorders, including risk assessment and genetic counseling for other family members. - Smilow Cancer Genetics & Prevention Program
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Hereditary Hemorrhagic Telangiectasia Program
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Movement Disorders Program
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Prenatal Screening and Diagnosis
- Lysosomal Storage Disease
- Disorders of Sex Development
- Hemostasis and Hemophilia Program
- Pediatrics Genomics Discovery Program
Rapid whole genome sequencing for neonatal and pediatric intensive care unit patients
A rapid diagnosis is often critical for making decisions about patient care when a child has a severe illness suspected to have a genetic basis. Rapid whole genome sequencing can provide results in about one week.