Age-related macular degeneration (AMD) is a common eye disease that can result in progressive loss of vision. While AMD typically affects older adults, a specific rare type of AMD called Malattia Leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD) can appear as early as the teenage years. Although ML/DHRD is rare, its study may provide insights into broader mechanisms of retinal degeneration, which could benefit millions affected by AMD.  

While the genetic cause of ML/DHRD is known, there have been no small molecule inhibitors identified that reduce the production of the disease-causing protein. However, researchers from the University of Texas Southwestern Medical Center and the University of Minnesota recently published a paper that describes a small-molecule inhibitor that addresses the primary pathology of ML/DHRD. In the paper, titled “GSK3 inhibition reduces ECM production and prevents age-related macular degeneration-like pathology,” the team used CRISPR-engineered cell lines to study production of the disease-causing protein in response to treatment with inhibitors. The work was supported by the Promega Academic Access Program, which helped defray the costs of needed reagents. Their results point to future strategies for developing therapeutics at the currently incurable disease.

On September 25, Promega Research Scientist David Mokry addressed a full audience at the International Symposium on Human Identification. The event brings together people from the forensic DNA industry – criminalists, analysts, lab directors and more – eager to learn about advancements in the field. Over the next 20 minutes, David unveiled a novel enzyme designed to tackle a challenge that has plagued DNA forensics for decades.

Known as “Reduced Stutter Polymerase,” the new enzyme virtually eliminates confounding stutter artifacts in forensic DNA analysis. When incorporated into STR analysis kits, it will dramatically simplify mixed sample deconvolution and help forensic analysts generate accurate profiles of multiple contributors. This technology is the result of years of collaboration between the Genetic Identity R&D Group and the Advanced Technology Group at Promega.

Here’s how they did it, and why it’s so important.