Advancing the Science

Mayo Clinic Medical Science Blog – an eclectic collection of research- and research education-related stories: feature stories, mini news bites, learning opportunities, profiles and more from Mayo Clinic.

December 19, 2017

Searching for genetic clues and treatment for unexplained chronic liver disease

By Susan Buckles

By Sharon Rosen

Douglas Simonetto, M.D.

“Chronic liver disease affects 3.9 million people each year in the United States. As many as 30 percent of patients suffer from unexplained chronic liver disease where there is no cure,” says Douglas Simonetto, M.D.

That’s why Dr. Simonetto and his colleagues in Mayo Clinic’s Division of Gastroenterology and Hepatology are collaborating with researchers in the Mayo Clinic Center for Individualized Medicine to find genetic mutations that may be linked to these unexplained conditions and uncover new targets for individualized therapies.

“For some young patients, we are unable to identify the underlying cause of their chronic liver disease using traditional clinical tests. With a simple blood test, we can obtain a blood sample and perform whole genome sequencing to identify any genetic mutations that could be linked to a patient’s chronic liver condition. Our hope is to gain a better understanding of these conditions and develop targeted therapies to manage symptoms, stop disease progression and restore liver function for these patients,” says Dr. Simonetto.

As the largest solid organ in your body, your liver performs many necessary functions, including removing harmful substances, filtering your blood and making vital nutrients. Patients with chronic liver diseases have reduced liver function that can progress to late stage scarring of the liver, known as cirrhosis, and liver failure.

Research collaboration – a multidisciplinary team of experts

As Dr. Simonetto explains, this research effort brings together a multidisciplinary team of experts to address a critical need for new therapeutic targets for patients with unexplained chronic liver diseases. Due to the lack of a specific cause for these conditions, current treatments focus only on managing symptoms, or ultimately if liver function continues to deteriorate, liver transplantation.

“We’re combining the clinical expertise of hepatologists and gastroenterologists who are leaders in treating liver disease, with the expertise of geneticists, genetic counselors, and genomics experts from the Center for Individualized Medicine who are leaders in analyzing and interpreting complex genetic test results, to help find answers for our patients,” says Dr. Simonetto.

Finding answers for many different conditions

There are many different types of unexplained chronic liver diseases which can scar liver tissue and impair the liver’s ability to function normally or that can impair the blood flow through the liver and increase the risk of gastrointestinal bleeding. Dr. Simonetto and his colleagues are working to identify potential underlying genetic causes for chronic liver conditions in young patients, which cannot otherwise be explained by routine available tests. These conditions include:

  • Unexplained fat deposits in the liver (hepatic steatosis/steatohepatitis)
  • Unexplained scarring of the liver (cryptogenic cirrhosis)
  • Unexplained impairment of blood flow through the liver (idiopathic or noncirrhotic portal hypertension)
  • Unexplained abnormal iron deposits in the liver (non-HFE iron overload)
  • Unexplained jaundice (cholestatic liver disease)

The research team is focusing on these conditions because they are the most likely to involve an underlying genetic cause that leads to the disease.


This article originally appeared on the Center for Individualized Medicine blog.

Tags: About, Center for Individualized Medicine, Douglas Simonetto, gastroenterology, genetic testing, liver disease, republished

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