The Mount Sinai Department of Genetics and Genomic Sciences

Under the leadership of Eric Schadt, PhD, the Mount Sinai Department of Genetics and Genomic Sciences—one of the largest medical genetics centers in the United States—provides expert diagnostic, therapeutic, and counseling services for patients and families with genetic disorders, birth defects, and pregnancy loss. We perform sophisticated diagnostic tests in state-of-the-art DNA, biochemical, and cytogenetics laboratories.

The department has more than 50 internationally recognized physician and scientist faculty members, 10 experienced genetic counselors, and a full support and research staff of more than 150 people who provide expert services.

Our programs and services encompass:

• Cancer-related genetic counseling
• Cardiovascular genetics
• Cleft and craniofacial disorders
• Clinical and laboratory evaluations of patients with genetic disorders, birth defects, and pregnancy loss
• Comprehensive genetic diagnostic and counseling services
• Ethnicity-based carrier screenings
• Gaucher disease
• Inherited metabolic diseases
• Prenatal diagnostic services

Our specialty centers include:

• Center for Jewish Genetic Disease
• International Center for Fabry Disease
• International Center for Types A and B Niemann-Pick Disease

Groundbreaking research for new forms of treatment

More than 10,000 genetic disorders have been recorded, and current research is identifying the genetic susceptibilities or predispositions of individuals for many common diseases and cancers. Moving toward this goal, the Department of Genetics and Genomic Sciences is performing research to develop new and improved methods for the diagnosis, prevention, and treatment of rare and common genetic diseases. The Human Genome Project and advances in gene therapy and stem cell biology have accelerated this research.

Advances in diagnosis and treatment

Over the years, Mount Sinai researchers have had remarkable success in identifying the genes responsible for certain diseases and developing new treatments for inherited disorders. Examples include:

• Research pioneered by the Department of Genetics and Genomic Sciences has resulted in the development of a safe, effective, FDA-approved treatment for Fabry disease, an inherited metabolic disorder that can cause kidney failure, heart disease, stroke, and premature death.
  
  
• Department faculty have developed a treatment for Niemann-Pick Type B disease, a hereditary disorder that results in death in childhood or early adulthood.
  
  
• We have identified the genes responsible for several diseases, including a debilitating juvenile arthritis, dystonia, and an inherited form of obesity. The identification of these genes may lead to new treatments for these diseases. We have also recently identified a gene linked to prostate cancer.
  
  
• Our researchers have identified three genes causing Noonan syndrome, a common genetic disorder that causes congenital heart defects. Affected families can now receive early diagnosis and prevention.