Dr. Katherine Siminovitch 
SENIOR INVESTIGATOR

The single most important challenge facing biomedical researchers today is to translate to the medical clinic the extraordinary technological advances emanating from the Human Genome Project. These technologies, collectively referred to as “genomics,” are the source of sophisticated, rapidly evolving tools and information which will radically change the practice of medicine.

Dr. Katherine Siminovitch is an acclaimed leader in genomic medicine. Using unique mouse models and studies with human patients, she is characterizing the genes that regulate normal immune responses, and defining the mechanisms whereby certain proteins contribute to immune system function and disease development. In addition, she is employing various genetic approaches to identify the gene variants responsible for inflammatory bowel disease and rheumatoid arthritis.

In 1994, Dr. Siminovitch discovered a genetic marker for Wiskott-Aldrich syndrome (WAS), a rare inherited disorder of the immune system characterized by recurrent, often lethal infections. The average individual with WAS lives about four years; those who survive into adolescence often develop cancer. The genetic test Dr. Siminovitch developed became widely used to provide carrier prediction and prenatal diagnostics. Since the disease can be cured if a bone marrow transplant is given before the age of 1 or 2, the ability to predict, screen for and diagnose the disease has had a tremendous impact on families who carry the genetic defect.