Jessica G Davis   Clinical Associate Professor of Pediatrics

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Genetic diseases

We hope to better characterize the inter and intrafamilial variation of the clinical findings seen in Marfan Syndrome. Marfan Syndrome is an autosomal dominant disorder of connective tissue. Fibrillin-1, the gene, for this disorder is on chromosome #15.

We shall be looking for specific mutations in the 70 families we follow at The New York Hospital and hope to replicate the mutations in a mouse model. This will enable us to describe the effect of specific mutations in various body tissues.


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