Lynch syndrome, named for American physician Dr. Henry T. Lynch, is a hereditary condition that causes a predisposition to several types of cancer, most commonly colorectal but to other types as well, including ovarian, endometrial and stomach cancer. The root of this disorder lies in a genetic defect known as DNA mismatch repair deficiency (or dMMR), which affects the process by which mistakes are repaired when our DNA is copied during cell division. People with Lynch syndrome can have up to an 80% increased lifetime risk of developing colorectal cancer, and are more susceptible to developing colorectal and other types of cancers at an earlier age. Accounting for 3-5% of all colon cancers, Lynch syndrome is an excellent target for preventative treatment, like a vaccine. Research exploring a Lynch syndrome vaccine seeks to harness the body’s innate immune response to target tumor cells and has yielded promising results.

Automating a workflow can be a tedious and challenging process that requires lots of time and resources. A helping hand can make all the difference, as it did for Stephanie Dormand, Molecular Supervisor at UniPath Women’s Health, a diagnostics lab located in Denver, Colorado. 

The women’s health molecular testing service at UniPath primarily relied on the tabletop Maxwell® RSC Instrument to conduct nucleic acid extractions using the Maxwell® Viral TNA Kit. As their testing needs grew, they required more throughput. Dormand worked with Promega Field Support Scientist Rick Grygiel to implement the Maxwell® HT Viral TNA Kit on the Tecan Fluent 780 liquid handler, raising their throughput from 16 to 96 samples per run. When COVID-19 struck, Dormand worked with Rick to quadruple their testing with the addition of another Fluent 780.

In this blog, Dr. Jolanta Vidugiriene, Senior Research Scientist at Promega Corporation, discusses tools for studying metabolism in NAFLD/NASH research.

What is nonalcoholic fatty liver disease (NAFLD)?

NAFLD is not a simple disease, it is an umbrella term for a range of liver conditions. The main defining characteristic of NAFLD is fat accumulation in the liver, called steatosis. In about 20% of people, steatosis is accompanied by inflammation, which is a more severe form of NAFLD called NASH (nonalcoholic steatohepatitis). NASH can progress to more advanced conditions like liver cirrhosis and liver failure. Most of the time, NAFLD is associated with underlying conditions—it is closely related to metabolic dysfunction, obesity, and type 2 diabetes. To better reflect the disease pathology, there has been a lot of discussion in the field recently to rename NAFLD to MAFLD, for metabolic associated fatty liver disease. Even though NAFLD has been studied for many years, the causes and progression of the disease are still not well understood. There are no FDA-approved diagnostic tools or treatments for it yet.