MAHONING TOWNSHIP, Pa. -- A project called MyCode is a long-term genomics research study at Geisinger Health System using DNA from Geisinger patients.
MyCode researchers have made a discovery that could play a big role in someday treating liver disease.
Geisinger's MyCode research project, in conjunction with Regeneron Genetics Center in New York, was started about 10 years ago. Dr. David Carey is part of the leadership team behind it.
"Over the last four, five years it has really accelerated. Now, about 200,000 Geisinger patients have agreed to participate in MyCode. It's fueling a lot of important research," said Dr. Carey.
One example of that research is a discovery made in Geisinger's lab near Danville in the summer of 2016.
"It's a gene variant that seems to protect a person from liver disease."
The initial discovery was made by a summer intern.
Dr. Tooraj Mirshahi is in the department of molecular functional genomics. He explains as we age and gain weight, fat is deposited into our liver. Fatty liver disease is fairly common -- the higher the amount of fat, the higher the risk of disease.
But in about five to 10 percent of people, that common ailment turns to fibrosis, sometimes even to cirrhosis, which can be very dangerous and is becoming a leading cause of liver transplants nationwide,
"So the piece that has puzzled us, what we don't really understand, is how you get from simply having fat in your liver to this more dangerous fibrostic disease," Dr. Mirshahi.
This research may have identified a culprit in that progression.
"There is an enzyme in the liver that when inactivated, or slowed down, that progression is slowed."
And if medicine is created to mimic that reaction, the disease may be able to be significantly slowed.
There is a lot more research now going on to study the gene variant made possible by people here in northeastern and central Pennsylvania.
"In terms of the research we do, the new discoveries, they have a broader impact much beyond the local population."
Those findings were published in the New England Journal of Medicine last month.