New Helix dataset aims to accelerate liver disease research
Company combines genetic, clinical data on MASH
A new dataset from genomics company Helix aims to accelerate research into metabolic dysfunction-associated steatohepatitis (MASH), a severe form of fatty liver disease.
The dataset, with information from more than 17,000 people, is part of Helix’s GenoSphere platform, which combines genetic and clinical data with the goal of improving scientific understanding of disease processes and identifying potential targets for treatment.
“MASH is a severe medical condition increasingly affecting millions of people worldwide,” James Lu, MD, PhD, Helix’s CEO, said in a company press release. “Through our GenoSphere platform, researchers and drug developers can identify key insights needed to create more effective and targeted treatments.”
Fatty liver disease is marked by the buildup of fat in the liver. In metabolic dysfunction-associated steatotic liver disease (MASLD), this liver fat buildup is typically related to cardiometabolic risk factors such as obesity, high blood pressure, diabetes, or abnormal blood fat levels.
MASH is a severe form of MASLD that develops when the buildup of liver fat leads to inflammation and scarring, which can set the stage for serious complications like cirrhosis, or irreversible liver scarring, liver failure, and liver cancer. According to Helix, MASLD affects more than a third of adults in the U.S., and around one in five people with MASH will progress to cirrhosis.
Dataset includes MASH patients, those at high risk
The new MASH dataset includes people with a wide range of different liver and cardiometabolic issues. About 16,000 participants have a high risk of MASH and more than 1,000 people have a confirmed MASH diagnosis.
In addition to genetic data, participants in the database have an average of 15 years’ worth of electronic health records available, with information on demographics, clinical diagnoses, and past procedures, as well as the ability to link medical and pharmacy claims.
The database also contains more than 10 disease-related lab results, including markers of liver damage, blood fat, and blood sugar. A variety of standardized assessments of disease severity — including the Fibrosis-4 (FIB-4), AST to Platelet Ratio Index (APRI) Score, and NAFLD Score (NFS) — are available for all database participants.
By combining all these data, Helix hopes that the database will help facilitate new MASH research, helping to identify the genetic variants that contribute to the disease’s development, progression, and response to treatment.
The new platform is built on the Helix Research Network, which the company described as “North America’s largest precision clinical research network.” It comprises a number of academic and healthcare organizations that collaborate to improve clinical care through the combination of genetic and clinical data.
“Helix is in a unique position to help accelerate discoveries that could make a substantial difference for patients affected by this serious liver condition,” Lu said.
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