Genetics 

Research and Clinical Trials

The Division of Medical Genetics is dedicated to the study of human genetics. The Division’s clinician-scientists are pursuing research in several areas, including:

  • congenital heart disease
  • cardiomyopathies
  • lung QT syndrome
  • breast cancer, and
  • spinal muscular atrophy

Intensive research activities are also focused on the biology of energy homeostasis and type 2 diabetes mellitus on a broad investigative front in both humans and rodents.

In addition, we are interested in molecular genetic analysis of human subjects with unusual and/or potentially revealing medical or physiological phenotypes, and have provided relevant consultation to a growing number of investigators throughout the institution and beyond.

The laboratory also functions as the Molecular Biology Core laboratory of the New York Obesity Research Center and the Columbia University Diabetes and Endocrinology Research Center.

Our Researchers

Dr. Jessica Davis has several research interests. She hopes to better characterize the inter- and intrafamilial variation of the clinical findings seen in Marfan syndrome, an autosomal dominant disorder of connective tissue. Fibrillin-1, the gene, for this disorder is on chromosome #15.

She and her team are looking for specific mutations in the 70 families enrolled in the study at NewYork-Presbyterian/Weill Cornell 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.

Other Research

Cancer Genetics The recent discovery of two breast cancer susceptibility genes, BRCA1 and BRCA2, offers the opportunity to relate inherited mutations in each to breast cancer in different races or ethnic populations. Dr. Gilbert and his team are also looking at which mutations may be associated with the development of second primary cancers in breast cancer survivors, and whether co-inheritance of germline or additional somatic gene changes affect patterns of cancer development and clinical course. They are studying the results of BRCA1 and BRCA2 mutation testing of those with breast cancer whose family histories are positive for cancer and the relatives of identified mutation-positive individuals, to gain insight into the effects of environment on penetrance (proportion of mutation carriers that develop cancer), and clinical course.

Cystic Fibrosis (CF) CF is a multi-system disease notable for varying patterns of disease involvement and variable severity. Over 500 CF mutations have been reported to date, and sequence variants within the CF gene have also been identified.

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Division of Medical Genetics
505 East 70th Street
Helmsley Tower, 3rd Floor
New York, NY 10021

Phone: (646) 962-2205
Fax: (646) 962-0273

For office hours and staff information, view our medical practice page.