Propionic and Methylmalonic Acidemia (PA and MMA), including an investigational therapy, are explored in this episode. Host Kira Dineen is joined by patient advocate Bryan Kelly, and HemoShear Therapeutics CMO, Dr. Pat Horn. Bryan Kelly is 36 years old and living with propionic acidemia. He is a great inspiration to patients and caregivers alike, finding ways to live a fulfilling life, despite the burdens of his disease. Bryan uses yoga and meditation techniques for pain relief and is active on social media, regularly reaching out to the PA community. Dr. Pat Horn is the Chief Medical Officer of HemoShear Therapeutics. His company is developing a potential new treatment for the two rare metabolic diseases we are talking about in this episode- propionic acidemia and methylmalonic acidemia. He practiced 20 years as a pediatrician and has spent the last two decades working with biotechnology companies developing new treatments for rare diseases. On This Episode We Discuss: How propionic and Methylmalonic Acidemia affect the body PA and MMA screening and diagnosis Prognosis, lifespan and quality of life for people with PA or MMA The goal of HemoShear’s investigation therapy (HST5040) that is currently in development Why studies like HERO are important to the PA and MA community Living with PA Mindfulness and coping with a diagnosis Why the FDA tends to fast track therapies that target orphan/rare diseases If you’re interested in learning more about HemoShear’s HST5040 therapy for PA and MMA, check out this Fact Sheet, and learn more about the HERO study at clinicaltrials.gov (NCT04732429) or mma-pahero.com. Hemoshear is also conducting the JUMP (Journey to Understand MMA and PA) Study A Natural History Study which you can learn more about here. Stay up to date with the latest developments in their trials by following HemoShear on Twitter and LinkedIn. To learn more about Bryan’s journey with PA and mindful meditation, visit his website, and be sure to follow Be Present Lifestyle on Twitter, Facebook, and Instagram. Stay tuned for the next new episode of DNA Today on June 17, 2022, where we’ll hear from Erica Peacock and Orion Buske about building inclusive pedigrees! Our following episode on June 24th will be a continuation of this conversation with diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, and transgender patient advocate, Holden Bender-Bernstein. Can’t wait? Tune in live to the recording on Thursday, June 24th. Register for free here. New episodes are released on Fridays. In the meantime, you can binge over 185 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

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