Peter K. Gregersen, MD

Investigator

Head, Robert S. Boas Center for Genomics and Human Genetics

Main Area of Research

Finding genes to unlock the secrets — and alter the course — of devastating diseases.

Finding the Key

With a family environment that emphasized both music and science (his father was a research physiologist, his mother an opera and lieder singer), medicine was in some respects a compromise between these competing influences for Peter Gregersen, MD. It was during his residency that he met his first patients with lupus and other autoimmune diseases and learned the frustration and uncertainties of medicine firsthand: No one knew much of anything about how these diseases came to be. Research in genetics was just taking root, and in the 1980s he cloned the first group of genes that turned out to be related to rheumatoid arthritis. “It was an incredibly exciting experience,” said Dr. Gregersen. “It was obvious to me that this kind of work could be fulfilling for more than a lifetime.”

When Dr. Gregersen identified two polymorphisms associated with rheumatoid arthritis and lupus in the past several years, his excitement and sheer joy was felt around the entire research institute. After all, he wants to use genetics to solve diseases and develop treatments and ultimately help predict illnesses before symptoms occur. His goal is to understand the underlying causes of human autoimmune diseases.

Growing Recognition

Dr. Gregersen has developed collaborations with geneticists all over the country in an effort to pool resources and speed the discoveries in the lab. This year, with two papers published in The New England Journal of Medicine, Dr. Gregersen was honored with the Klemperer Award by the New York Academy of Medicine and the American College of Rheumatology’s Distinguished Basic Investigator Award.

Next on the Horizon

Dr. Gregersen has expanded his interest in genetics to include forms of inflammatory muscle disease, alopecia areata, autism and myasthenia gravis, among others. In addition, he is using state-of-the-art genetic mapping techniques to study the effects of genes on human traits such as memory and cognition and, back to his musical roots, absolute pitch. Finally, Dr. Gregersen is leading the effort to integrate genetics into the fabric of clinical medicine, both for research and ultimately to incorporate genetic data into daily medical practice, with the long-term goal of making personalized medicine a reality for all patients who visit the North Shore-LIJ Health System.

Funding Future Research

Dr. Gregersen’s work has implications for unlocking the secrets behind numerous diseases, all of which appear to be linked to the genetics of autoimmunity. Visionary supporters can assist in funding new and crucial areas of research, including:

• Rheumatoid arthritis. A major project has been developed based on data generated by Dr. Gregersen’s lab, showing that a combination of genes and other biomarkers can predict response to treatment of RA with TNF inhibitors (the major biologic treatment on the marker, which is very expensive). There is tremendous interest in this area, and Dr. Gregersen has been the PI of a major NIH funded effort (called ABCoN) in this area for the last seven years.
• Lupus. Dr. Gregersen and Dr. Betty Diamond will follow several thousand sisters of lupus patients for seven years in order to identify markers which can predict future development of lupus, and possibly guide preventive therapies.
• Myostitis and Myasthenia Gravis. Development of a large international consortium of investigators in myostitis, as well as a similar effort for Myasthenia Gravis.
• Alopecia Areata. Dr. Gregersen is currently collaborating on genetic research with Angela Christiano at Columbia University, the leading investigator in this area. Together they have collected samples on 2,000 cases, the largest such collection in the nation, and all the genetic studies are being carried out in Dr. Gregersen’s lab at The Feinstein Institute.

Further funding needs to advance Dr. Gregersen’s research are focused on research technology and staffing:

• High Throughput Sequencing. In order to stay ahead of the curve, the lab will need to invest in new technology for high throughput sequencing of DNA.
• Fellows. Dr. Gregersen’s lab can efficiently accommodate five fellows. Additional brainpower generates ideas and pushes research forward.
• Statistical Analysts. The large amount of genetic data that is being generated requires dedicated analysts.
• Technology. The lab will need to further develop computer infrastructure. and additional staff with computer expertise.