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