Below is a sampling of clinical trials and clinical research protocols from the Genetics & Genomics Research program and the Clinical Genetics program. For recent research findings, see our highlighted abstracts presented at the American Society of Human Genetics (ASHG) meeting.

Angelman syndrome

Autism

Cockayne syndrome

Congenital heart disease

(see also Noonan syndrome)

Congenital myopathies

Fragile X syndrome

Lysosomal storage disorders

Metabolic disorders

Neurofibromatosis

Noonan syndrome

  • Genotype/Phenotype Correlation Study for Noonan Syndrome and related phenotypes (Coordinator: Erica Tworog-Dube, M.S., G.C., 617-525-4490)