News  Donate!

Research Pilot Grant Feature: Emma Matthews, FRCP

Published on Wed, 01/22/2025

Meet one of our 2024 Pilot Grant Recipients, Emma Matthews, FRCP, a Neurologist and Reader at St George's, University of London! She is leading a groundbreaking project to uncover why myotonic dystrophy type 1 (DM1) patients are prone to abnormal lipid levels, known as dyslipidemia. DM1, caused by a genetic expansion in the DMPK gene, affects how key proteins regulate gene function, leading to issues in multiple body systems, including muscle weakness, heart disease, and abnormal lipid metabolism.

Dr. Matthews’ project, “Exploring Transcriptional Dysregulation of Lipid Metabolism Genes in DM1,” aims to identify whether dyslipidemia in DM1 is due to genetic misregulation. Using blood samples from DM1 patients, her team will conduct RNA sequencing to determine if lipid metabolism genes are mis-spliced, especially in those with dyslipidemia. This comparison could offer insights into how gene regulation impacts lipid levels, leading to improved treatment guidelines.

By examining the genetic differences between DM1 patients with and without dyslipidemia, Dr. Matthews hopes to pinpoint the root causes of abnormal lipid profiles in DM1. This research could inform the development of new therapies not only for DM1 patients but potentially for the broader population.

Click here to learn more about MDF's research funding opportunities and prior grant recipients.