Jeffrey Epstein VI Foundation funds research on genetic link to inflammatory bowel disease

23 July 2012

The Jeffrey Epstein VI Foundation has given substantial support to the Crohn's and Colitis Foundation of America to continue its Genetic Initiative to find a cure for the diseases.

Crohn's is a chronic inflammatory condition of the gastrointestinal tract. Every year, about 700,000 Americans are diagnosed, the majority being between the ages of 15 and 35. Crohn's affects the end of the small bowel, or ileum, the beginning of the colon and parts of the gastrointestinal tract. Ulcerative colitis affects the colon or large intestine.

The cause of Crohn's and Colitis is uncertain but the chronic inflammation stems from the immune system attacking microbial antigens in the gastrointestinal tract. Because of this, the disease is classified as an autoimmune disorder.

What is certain however is that Crohn's has a strong genetic component. Siblings are 30 times more likely to develop Crohn's than the general population. Children of those affected, are 3 to 20 times more likely to develop the disease and twins show a concordance of over 55%.

The Genetic Initiative at the Crohn's and Colitis Foundation of America, which recently received funding from The Jeffrey Epstein VI Foundation, is by far the most comprehensive effort of its kind to isolate the mutated genes that lead to the disease. The Initiative employs a dream team of specialists from different fields to identify genetic mutations and the chain of subsequent pathologies that cause Crohn's and Colitis.

The Initiative is headed by Dr Ramnik Xavier, Chairman of the Department of Gastroenterology at Massachusetts General Hospital in Boston. Xavier's laboratory has identified the largest number of genes associated with Crohn's to date. He is also a founding member of the Center for Computational and Integrative Biology.

The first mutation associated with Crohn's was the NOD2 gene (or CARD15) followed by the discovery of point mutations. Currently, more than thirty genetic mutations have been found, along with their consequences. Mutations of the XBP1 gene for example, directly affect the endoplasmatic reticulum's unfolded protein response pathway. The genetic mutation of ATG16L1 typically induces cell autophagy and can hinder the body's ability to attack invasive bacteria.

"As pluripotent stem cell technology improves, databases like the Genetic Initiative will be invaluable resources to curing such diseases as Crohn's and Colitis," Jeffrey Epstein remarks.