Facioscapulohumeral Muscular Dystrophy with Perkin Elmer Genomics

This week we’re diving into Facioscapulohumeral Muscular Dystrophy (FSHD) and highlighting the utilization of whole genome mapping in the diagnosis of FSHD. Joining us to explore these topics are June Kinoshita, Director of Research and Patient Engagement at the FSHD Society, and Rojan Kavosh, a genetic counselor by training who is currently a Genomic Testing Consultant at PerkinElmer Genomics. June Kinoshita joined the FSHD Society in 2012 and served as its Executive Director until September of 2017. Previously, June co-founded and served as Executive Editor of the Alzheimer Research Forum, the pre-eminent Web community for researchers in neurodegenerative disorders. June has worked closely with a variety of foundations to develop initiatives for multiple sclerosis, schizophrenia, amyotrophic lateral sclerosis, Parkinson’s disease, and other disorders. She is also an entrepreneur, having co-founded N-of-One, Inc., a pioneering individualized clinical decision support oncology company. June graduated from Harvard College where she studied physics, and began her career as a science journalist, working as a writer and editor for Scientific American, Science, The New York Times Magazine, and many other national publications. Rojan Kavosh MS, CGC, is a licensed certified genetic counselor and Genomic Testing Consultant at PerkinElmer Genomics. Prior to joining PerkinElmer Genomics, she worked as a perinatal genetic counselor in the Fetal Center at Stanford Children’s Hospital. Rojan graduated from UCLA with a degree in Molecular, Cell and Developmental Biology, and earned her Master’s in Genetic Counseling from UC Irvine. On This Episode We Discuss: Facioscapulohumeral Muscular Dystrophy (FSHD) Types of FSHD Causes of FSHD Digenic inheritance patterns Genome optical mapping vs. whole genome sequencing The genetic etiology of FSHD type 1 vs 2 Benefits of ordering FSHD testing through PerkinElmer Genomics Clinical trials for FSHD When the FSHD Society predicts that treatments will be available for people with FSHD To learn more about genetic testing for FSHD, visit PerkinElmer Genetics and the FSHD Society and be sure to follow the FSHD Society on Twitter, Facebook, LinkedIn, and Instagram. HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED) Stay tuned for the next new episode of DNA Today on June 10, 2022. Follow Us On... Instagram: @DNAradio (  / dnaradio  ) Twitter: @DNApodcast (  / dnapodcast  ) Facebook: @DNApodcast (  / dnapodcast  ) Listen On… Spotify (https://spoti.fi/39hVSUD) Apple (https://podcasts.apple.com/us/podcast...) Google (https://podcasts.google.com/feed/aHR0...) DNApodcast.com ******* DNA Today is a podcast and radio show exploring genetics’ impact on health through conversations with leaders in genetics like genetic counselors, researchers, doctors, and patient advocates. The show started in 2012 and features over 185 episodes. DNA Today won the 2020 Best Science and Medicine Podcast Award with nominate four other years. DNA Today is broadcast every Friday at 10:30am ET on WHUS 91.7 FM in Connecticut. New episodes are released on the first and third Friday of the month with some bonus episodes on other Fridays. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.