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Healthwatch 16: Researchers helped discover genetic changes to protect against liver disease

Researchers at Geisinger recently helped discover genetic changes that protect against liver disease.

PENNSYLVANIA, USA — Fatty liver disease is a common condition that occurs when there is an increased buildup of fat in the liver.

Doctors at Geisinger said it is a huge problem not only in the United States but worldwide.

Patients can develop fibrosis and cirrhosis as a result, which is currently one of the leading causes of liver transplants.

"As our population has been getting heavier and the epidemic of obesity and diabetes has increased, that, unfortunately, is who is at most risk, patients with diabetes and obesity," Dr. Christopher Still said.

Recently, scientists sequenced more than 500,000 people using Geisinger's MyCode and the UK Biobank. 

Dr. Christopher Still is Geisinger's director for the Center of Nutrition and Weight Management. He said the study found that rare genetic mutations in what is known as the "CIDEB gene" are associated with protection against liver disease.

"The CIDEB gene that patients had a loss of function or didn't produce both proteins, those were the individuals that were protected against not only developing fatty liver disease but going on to cirrhosis," Dr. Still said.

So what does this mean for patients?

Dr. Still said hopefully pharmaceutical companies can mimic the reduction in that protein that protects people against fatty liver disease.

"So if they can come up with a medication to do that, then that can help many thousands of people whether they have that rare genetic variant or not," he said.

Geisinger's MyCode Health Initiative was started in 2007. It uses a person's DNA as part of a large-scale research project.

See more Healthwatch 16 stories on YouTube.

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