Learn more about Dr. Ami Mankodi, principal investigator at the National Institutes of Health’s (NIH) National Institute of Neurological Disorders and Stroke (NINDS) in Bethesda, Maryland. Dr. Mankodi has been involved in research that has helped shape a fundamental biologic and molecular understanding of myotonic dystrophy (DM).
Investigators at the University of California San Diego, the University of Florida, and the National University of Singapore have recently reported early research that potentially ‘repurposes’ gene editing technology for a set of RNA disorders—myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), a subset of Lou Gehrig’s disease (ALS) patients and Huntington’s disease. They have modified the Cas9 enzyme so it is targeted to toxic RNA, instead of the expanded DNA repeats in these diseases.
A novel redirection of CRISPR/Cas9 technology addresses toxic RNA, rather than the genome, as a potential therapy for DM1 and DM2.
To develop new therapies for patients living with myotonic dystrophy (DM), specific “infrastructure” needs must be addressed—this infrastructure makes clinical trials feasible. It is essential to understand how a disease manifests and progresses in a cohort of patients that is sufficiently large and representative to provide confidence in the findings. This understanding, in turn, allows the design and validation of outcome measures that are sufficiently sensitive, reliable, valid and responsive to show whether a candidate therapy is effective or not.
Understanding cardiac and other DM risk factors and planning for the known complications of DM that may affect you can help protect and maintain your quality of life and that of your loved ones.