As a clinical geneticist I am concerned with the diagnosis, cause and treatment of individuals and their families who present with a range of medical genetic problems. These include both defects, chromosomal disorders, single gene disorders, and biochemical genetic problems.
I have a particular interest in disorders of connective tissue including Marfan syndrome, Ehlers Danlos syndrome, the skeletal dysplasias and osteogenesis imperfections as well as the genetics of hearing loss and developmental disabilities.
I am working with Dr. Francesco Ramirez, Research Professor of Pediatrics to improve understanding of mutations in Fibrillin-1 gene. Mutations in this gene lead to the clinical symptoms and signs of Marfan syndrome.
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