Livija Medne's guest appearances

Livija Medne

DNA Today: A Genetics Podcast

PhenoTips Speaker Series: A Genetics Podcast

OwlTail

Louise Rodino-Klapac

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&amp;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 startThe prevalence of LGMD compared to Duchenne Muscular DystrophyHow people are diagnosed with LGMDWhy genetic testing is important to determine specific subtypes of LGMDGene therapy programs for the most common subtypesThe goal of the gene therapyWhen 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 patientsBusting 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. Stay tuned for the next new episode of DNA Today on March 10th, 2023! New episodes are released every Friday. In the meantime, you can binge over 225 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Which muscular dystrophy causes weakness of the muscles typically starting around the hips and shoulders? That would be limb girdle muscular dystrophy, or LGMD. LGMD is a group of neuromuscular diseases caused by mutations in genes responsible for proteins critical for muscle function, regulation, and repair1-3. Sarepta is a global biotechnology company working on engineering precision genetic medicine with the goal of changing the lives of people living with rare muscular dystrophies. Their multi-platform Precision Genetic Medicine Engine includes gene therapy, RNA and gene editing approaches. Oh that reminds me, ACMG is in March and Sarepta will be at booth 504. You can also head over to limbgirdle.com to learn more. (Sponsored) 1. Murphy AP and Straub V. J Neuromusc Dis. 2015;2(suppl. 2):S7-S19.2. Liewluck T and Milone M. Muscle Nerve. 2018;58(2):167-77.3. McNally EM. The Sarcoglycans. In: Landes Bioscience. 2000–2013.Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode with PerkinElmer Genomics on here, DNA Today! You can visit perkinelmergenomics.com for more information, the link is also available in the show notes and on our website DNAtoday.com. (Sponsored)I’ve enjoyed recording a few episodes about epigenetics, one of the interviews where I learned the most was with the Diagnostic Labs at the Greenwood Genetic Center. They taught me about EpiSign which is a novel clinically validated test that analyzes methylation. I just learned that since this episode in 2021, verison 4 of EpiSign has been released which has expanded to include over 70 conditions. If you are attending ACMG this month stop by booth 607 to chat with Greenwood Genetics. In the meantime brush up on your epigenetics by listening to Episode #145 of DNA Today and visit GreenwoodGeneticCenter. (Sponsored)

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. <a href="https://www.linkedin.com/in/louise-rodino-klapac-ph-d-ba419a6b/" rel="nofollow" target="_blank">Louise Rodino-Klapac</a> is the Executive Vice President, Head of R&amp;D and Chief Scientific Officer at <a href="https://www.sarepta.com/" rel="nofollow" target="_blank">Sarepta Therapeutics</a> 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! <a href="https://www.linkedin.com/in/livija-medne-57a0881/" rel="nofollow" target="_blank">Livija Medne</a> 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 startThe prevalence of LGMD compared to Duchenne Muscular DystrophyHow people are diagnosed with LGMDWhy genetic testing is important to determine specific subtypes of LGMDGene therapy programs for the most common subtypesThe goal of the gene therapyWhen 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 patientsBusting 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 <a href="https://www.sarepta.com/disease-areas/limb-girdle-muscular-dystrophy" rel="nofollow" target="_blank">limb girdle muscular dystrophy</a>, <a href="https://www.sarepta.com/science/gene-therapy-engine" rel="nofollow" target="_blank">gene therapy</a>, and <a href="https://limbgirdle.com/genetic-testing/" rel="nofollow" target="_blank">genetic testing for LGMD</a>. You can also visit <a href="https://raregenomes.org/limb-girdle-muscular-dystrophy" rel="nofollow" target="_blank">raregenomes.org</a> and <a href="https://limbgirdle.com/" rel="nofollow" target="_blank">limbgirdle.com</a> to learn more! And be sure to follow Dr. Louise Rodino-Klapac on <a href="https://twitter.com/LRodinoKlapac" rel="nofollow" target="_blank">Twitter</a>! You can also check out <a href="https://phenotips.com/speaker-series/genetic-counselors-in-leadership.html" rel="nofollow" target="_blank">this installment of the PhenoTips Speaker Series</a> to hear Kira interview Livija Medne about genetic counselors in leadership positions.  Stay tuned for the next new episode of DNA Today on March 10th, 2023! New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on <a href="https://itunes.apple.com/us/podcast/dna-today-a-genetics-podcast/id1209263436?mt=2" rel="nofollow" target="_blank">Apple Podcasts</a>, <a href="https://open.spotify.com/show/2TbRJMsOOeUTphJTqIYc6E?si=L-TO3D2HRJquTp1fCiVBbg" rel="nofollow" target="_blank">Spotify</a>, <a href="http://dnapodcast.com" rel="nofollow" target="_blank">streaming on the website</a>, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on <a href="https://www.youtube.com/channel/UCj5c3YSE2zMDaP4ATMrvKbg?view_as=subscriber" rel="nofollow" target="_blank">our YouTube channel</a>.   DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on <a href="https://twitter.com/DNATodayPodcast" rel="nofollow" target="_blank">Twitter</a>, <a href="https://www.instagram.com/dnatodaypodcast" rel="nofollow" target="_blank">Instagram</a>, <a href="https://www.facebook.com/DNATodayPodcast/" rel="nofollow" target="_blank">Facebook</a>, <a href="https://www.youtube.com/channel/UCj5c3YSE2zMDaP4ATMrvKbg?view_as=subscriber" rel="nofollow" target="_blank">YouTube</a> and our website, <a href="http://dnapodcast.com/" rel="nofollow" target="_blank">DNAToday.com</a>. Questions/inquiries can be sent to <a href="mailto:info@DNApodcast.com">info@DNAtoday.com</a>.  Which muscular dystrophy causes weakness of the muscles typically starting around the hips and shoulders? That would be limb girdle muscular dystrophy, or LGMD. LGMD is a group of neuromuscular diseases caused by mutations in genes responsible for proteins critical for muscle function, regulation, and repair1-3. Sarepta is a global biotechnology company working on engineering precision genetic medicine with the goal of changing the lives of people living with rare muscular dystrophies. Their multi-platform Precision Genetic Medicine Engine includes gene therapy, RNA and gene editing approaches. Oh that reminds me, ACMG is in March and Sarepta will be at booth 504. You can also head over to <a href="http://limbgirdle.com" rel="nofollow" target="_blank">limbgirdle.com</a> to learn more. (Sponsored) 1. Murphy AP and Straub V. J Neuromusc Dis. 2015;2(suppl. 2):S7-S19.2. Liewluck T and Milone M. Muscle Nerve. 2018;58(2):167-77.3. McNally EM. The Sarcoglycans. In: Landes Bioscience. 2000–2013. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (<a href="https://dnapodcast.com/episodes/2023/3/2/226-nicu-whole-genome-sequencing-with-hong-li-and-madhuri-hegde" rel="nofollow" target="_blank">#226</a>) with PerkinElmer Genomics. You can visit <a href="https://www.perkinelmergenomics.com/" rel="nofollow" target="_blank">perkinelmergenomics.com</a> for more information. (Sponsored) Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode with PerkinElmer Genomics on here, DNA Today! You can visit <a href="https://www.perkinelmergenomics.com/" rel="nofollow" target="_blank">perkinelmergenomics.com</a> for more information, the link is also available in the show notes and on our website <a href="http://dnapodcast.com/" rel="nofollow" target="_blank">DNAtoday.com</a>. (Sponsored) I’ve enjoyed recording a few episodes about epigenetics, one of the interviews where I learned the most was with the Diagnostic Labs at the Greenwood Genetic Center. They taught me about EpiSign which is a novel clinically validated test that analyzes methylation. I just learned that since this episode in 2021, verison 4 of EpiSign has been released which has expanded to include over 70 conditions. If you are attending ACMG this month stop by booth 607 to chat with Greenwood Genetics. In the meantime brush up on your epigenetics by listening to Episode #145 of DNA Today and visit <a href="https://ggc.org/" rel="nofollow" target="_blank">GreenwoodGeneticCenter</a>. (Sponsored)