Last week, Ann Lucas and I had the honor of presenting an Educational Breakout Session focused on Duchenne at the National Society of Genetic Counselors (NSGC) Annual Education Conference in Seattle. Lauren Morgenroth from TRiNDS also presented during the session, as well as Laurie Paschal, a Duchenne mom living in Seattle. The title of our session was “The Advent of Molecular Therapeutics for Duchenne and Becker Muscular Dystrophy and the Implications for Genetic Counselors.”
Our presentation was extremely timely given the recent news from Sarepta regarding approval of the first exon skipping therapy for Duchenne. We began the session with Lauren Morgenroth focusing on the natural history of Duchenne and Becker and how it has changed over the last decade with the use of corticosteroids. Ann Lucas was the second speaker and she reviewed the different therapeutic strategies in the pipeline for Duchenne with a focus on the molecular therapeutics, including exon skipping and nonsense mutation read-through. As the third speaker, I discussed the importance of rare disease patient registries and highlighted DuchenneConnect as a model for other rare disease registries. I also reviewed programs of interest to genetic counselors, including our Decode Duchenne genetic testing program as well as our efforts in implementing newborn screening for Duchenne and Becker.
Our final speaker was Laurie Paschal who is a mother of a teenage boy with Duchenne. Laurie did a fabulous job sharing her family’s experience with research participation. She discussed some of the pros and cons of participating in research studies and clinical trials, including several of the exon 51 skipping trials. Her insight was invaluable for the audience of genetic counselors, some of whom did not have much experience with clinical trials and their impact on families.
It was truly an honor to represent PPMD at the NSGC Annual Education Conference and to share our knowledge of Duchenne with so many other genetic counselors from across the country!