In this episode, we are exploring limb-girdle muscular dystrophy (LGMD). Joining us for this conversation are two experts, Dr. Louise Rodino-Klapac, and genetic counselor Livija Medne.
Dr. Louise Rodino-Klapac is the Executive Vice President, Head of R&D and Chief Scientific Officer at Sarepta Therapeutics who has 15 years of experience researching and studying LGMD. She is renowned for her work in molecular genetics and gene therapy. Her pioneering research is the foundation for five of our investigational limb-girdle muscular dystrophy (LGMD) programs. Hear from Dr. Rodino-Klapac about LGMD, the importance of knowing your subtype and the basics of gene therapy!
Livija Medne is a Senior Genetic Counselor and Systems Director of Genetic Counseling at the Children's Hospital of Philadelphia. She has 15+ years of experience in pediatric neuromuscular diagnoses, including LGMD. She co-chairs and is one of the course directors of the Curriculum Committee at the University of Pennsylvania Genetic Counseling Program. In addition, Livija is an advocate for the professional development of junior genetic counselors, having co-founded the first Genetic Counselor Mentorship committee at CHOP.
On This Episode We Discuss:
Limb-girdle muscular dystrophy (LGMD)
Which muscles are typically are affected first
Symptoms that individuals with LGMD experience and when symptoms usually start
The prevalence of LGMD compared to Duchenne Muscular Dystrophy
How people are diagnosed with LGMD
Why genetic testing is important to determine specific subtypes of LGMD
Gene therapy programs for the most common subtypes
The goal of the gene therapy
When FDA-approval for LGMD gene therapy can be expected
How patients can gain access to the gene therapy program and how health care providers can refer patients
Busting myths about LGMD
If you’d like to take a deeper dive after listening to today’s episode, follow these links to learn more about limb girdle muscular dystrophy, gene therapy, and genetic testing for LGMD. You can also visit raregenomes.org and limbgirdle.com to learn more! And be sure to follow Dr. Louise Rodino-Klapac on Twitter!
You can also check out this installment of the PhenoTips Speaker Series to hear Kira interview Livija Medne about genetic counselors in leadership positions.
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