Show notes
Learn about a genetic disorder called duchenne muscular dystrophy! We explore the genetics of DMD and treatments available with two experts in the field.
We’re joined by genetic counselor, Ann Martin, who serves as the VP of Community Research and Genetic Services at Parent Project Muscular Dystrophy. Our other guest is world-renowned geneticist Dr. Madhuri Hegde from PerkinElmer Genomics. She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer. You may remember her from Episode 177 of DNA Today, which was a really fun episode where we geeked out on the power of whole genome sequencing!
Sick of Zoom conferences? The Connecticut Genetic Counselors Association’s first conference is in person! Jackson Laboratory is hosting us on Friday, October 14th in Farmington, CT. Our host, Kira Dineen, will be the moderator for Roe v. Wade Panel where we will be discussing the implications for practicing in a safe harbor state. Other presentation topics include polygenic risk scores, inclusive practice for LGBTQIA+ patients, and billing/credentials. We also built in networking time so we can all chat and get to know each other. Register here!
On This Episode We Discuss:
DMD average age of onset, symptoms, and symptom progression
DMD prevalence and inheritance
Why it’s important for people to be offered carrier screening before they are trying to conceive
Reproductive options for people who are carriers of DMD
What symptoms carriers of DMD are at risk for
Getting the right testing for DMD
Current treatment approaches for DMD (EMFLAZA)
Ongoing clinical trials
PPMD’s guides for caregivers of newly diagnosed people
PerkinElmer Genomics’ free testing program, DeCode Duchenne
If you’re interested in learning more about Decode Duchenne, the free genetic testing, counseling, and education program offered through a joint partnership between PerkinElmer Genomics and Parent Project Muscular Dystrophy, visit their website.
We’d also like to feature a paper authored by one of our guests, Dr. Madhuri Hegde, about a single NGS-based assay that is highly sensitive for diagnostic testing for DMD and is also suitable for confirmatory testing for newborn screening for DMD.
Keep up with our guests on social media! Follow Parent Project MD on Twitter, Facebook, and Instagram, Dr. Maduri Hegde on Twitter, and PerkinElmer Genomics on Twitter and Facebook.
If you found today’s episode topic interesting and you want to learn more about DMD, we also chatted with Rich Horgan of Cure Rare Diseases whose brother has DMD in Episode 156!
Stay tuned for the next new episode of DNA Today on September 16th 2022, where we’ll be joined by Effie Parks of Once Upon A Gene Podcast to discuss CTNNB1 Syndrome! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.
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TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today.