Podcasts about lgmd

I'm so excited to introduce my Mam and Dad to the podcast!

[video available in app] Join me and my new LGMD sister Kae and I as we yap for 43 minutes about our experiences - some very similar, and some completely different. We cover topics like our changed perspectives on life, coming out of the 'disability closet' and so much more. I hope you can learn from, relate to, or just enjoy this final episode of 2024 :) A huge thank you to CureLGMD2i for sponsoring this podcast! Check out Kae's website: https://www.kaetran.com Follow Kae's instagram: @lettereleven

There are over 7000 rare diseases identified in the U.S. alone. Many of these diseases affect children, leaving families desperate for answers. In this episode, we talk with one of those families and the biotech company offering them new hope. We also talk with an expert on policy that has jump-started R&D for rare diseases.Follow us on LinkedIn, X, Facebook and Instagram. Visit us at https://www.bio.org/

In today's episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Misty about her experience living with limb-girdle muscular dystrophy, type2I/R9 (LGMD2I/R9). Misty details the suffering she experienced in her childhood from bullying for the symptoms she now realizes are connected to LGMD2I/R9 and shares the many frustrations and significant challenges that resulted from her delayed diagnosis. Despite noticing alarming symptoms as early as junior high school, Misty was dismissed by medical professionals for years. Finally, and only after both her younger twin sisters were diagnosed with LGMD2I/R9, Misty received her own genetic confirmation of LGMD2I/R9. She was 32 years old. Receiving her diagnosis was like an emotional tornado, and immediately, Misty feared that she may have passed LGMD2I/R9 on to her children. Throughout her journey, Misty has tried to hold on to the positives. She talks about the creative ways she has adapted to life with a progressive disease and emphasizes the importance of showing oneself grace and finding community.   Ada Lee, M.D., the Medical Director at ML Bio Solutions, a BridgeBio company, the program working on LGMD2I/R9 provides a medical overview. She explains that limb-girdle muscular dystrophy (LGMD) is an umbrella of diseases associated with progressive muscular weakness in the girdle muscles, some of the central muscles that support limbs. LGMD2I/R9 (also called “LGMD R9 FKRP-related”) is a genetic disease caused by a mutation in the FKRP gene. The FKRP gene is involved in helping muscles build a glycoprotein called alpha-dystroglycan. When the gene doesn't work correctly, it causes damage to muscle tissue, and over time, develops into scar-like, fibrotic tissue. As fibrotic tissue overtakes healthy muscle tissue, muscle strength and function declines, and people living with LGMD2I/R9 lose the ability to perform routine daily activities unassisted—such as walking or standing up. Because it is a rare disease that can have a variety of symptoms early on, many people with LGMD2I/R9 have prolonged pathways to diagnosis.   To learn more about LGMD2I/R9 and the LGMD community, visit the LGMD Awareness Foundation, the CureLGMD2i Foundation, and The Speak Foundation.

The 30th of September this year marks the 10th anniversary of Limb Girdle Muscular Dystrophy Awareness Day, and I could think of no one better to join me for this episode than Kelly Brazzo, the CEO and founder of the Cure LGMD2i Foundation - Unbalanced's brand new sponsor!! Kelly shares the LGMD diagnosis story of her daughter Sammy, and how the Foundation has grown to what it is now; researching for a cure and giving hope to patients and their families. Check out their website here: https://curelgmd2i.com Donate here: https://curelgmd2i.networkforgood.com/projects/91723-supporting-scientific-research-for-lgmd2i

I am suuuper excited to introduce Maud to you today, all the way from the Netherlands! We chat all things moving from New York to the land of bikes, life as a college student with LGMD, and focusing on the positives in life. We share so many similar experiences that we are basically LGMD twins! Enjoy :)

Today I am joined by Craig, who also has LGMD! We share similar experiences in funny falls, and he tells us the story of how he watched his own muscle biopsy… seriously, it's worth the listen!

Join David Rintell, Head of Patient Advocacy at BridgeBio and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy as they recognize Rare Disease Day, February 29, 2024, by speaking with siblings of people living with rare conditions. It is often said that a rare condition or disease impacts the entire family, and this is particularly true for rare siblings. Due to the extra care needed by a child living with a rare condition, rare siblings may sometimes miss out on time or attention from their parents. Rare siblings often contribute to caregiving in their families. Though being a rare sibling can be challenging, rare siblings are often more mature, empathic, and aware of what others around them are going through than typical children their age.   Marina, a nineteen-year-old, is a sister to Sammy, who is living with Limb-girdle Muscular Dystrophy Type 2I/R9 (LGMD2I/R9), a rare condition caused by changes in the FKRP gene and is associated with weakness and wasting of arm and leg muscles. In her conversation with David and Mandy, Marina describes what it was like to first learn about LGMD2I/R9 and what it was like to watch Sammy live with a progressive muscle wasting disease. Marina speaks with love as she describes their bond as sisters and how she's looked out for Sammy. When Sammy started going to the same high school, Marina took calls from Sammy or her teachers anytime Sammy fell or needed other assistance. Even though Marina is now miles away at college, she's always thinking about Sammy and hoping that she's getting help at school, if she needs it.   Michael, a thirteen-year-old, is the eldest of six siblings. Two of his brothers are living with Canavan disease, a genetic neurodegenerative disorder. Michael is wise beyond his years. He has a special ability enabling him to understand his brothers, who are non-verbal but always trying to communicate. Michael acknowledges that it is sometimes hard and there have been times when he has wanted more attention from his parents, but he also recognizes that he wouldn't be who he is today without the challenges he's experienced. Michael shares his personal experience that that sometimes a rare sibling might seem fine but not truly doing well.   Sydney, a nineteen-year-old, is a triplet and also the younger sister of Sean who is living with achondroplasia, the most common cause of dwarfism. Sometimes when she was younger, Sydney would get upset by the attention Sean received and she would miss her parents as they would be away supporting Sean through surgery. As she has grown up, Sydney has realized that it was necessary for her family to put extra attention and resources into supporting Sean and she is proud of who he has become. She's inspired by his mantra, “Heart over height, 24/7.”   These rare siblings are incredibly resilient. They demonstrate that living with challenges or adversity is not only not harmful, but it is the cause for a lot of personal growth. For additional information or resources for rare siblings visit The Courage Parents Network  https://courageousparentsnetwork.org/topics/siblings   or the Rare Siblings Project, http://raresiblingsproject.org/     To learn more about LGMD2I/R9 and the LGMD community visit the CureLGMD2i Foundation, https://curelgmd2i.com/about/   LGMD Awareness Foundation, https://www.lgmd-info.org/    and The Speak Foundation  https://thespeakfoundation.com/

Pernilla lever med muskelsjukdomen LGMD typ 2A. En sjukdom som bryter ner hennes muskler. I avsnittet delar Pernilla med sig av sina upplevelser kring hur det var att få beskedet att ha en obotlig sjukdom som 12 åring, och om hur det är att leva med sjukdomen. Pernilla är just nu aktiv i att driva frågan kring dödshjälp i Sverige. Detta för att hon tidigt bestämde sig för att när sjukdomen gör hennes liv lidande och outhärdligt, ska hon själv välja att avsluta sitt liv. Vilket hon vill få rätt till att göra hemma i Sverige. Vid inspelnings tillfället av detta avsnitt väntade Pernilla på ett besked från socialstyrelsen kring deras beslut om Pernillas rätt till dödshjälp i Sverige (med samma metod som används i Schweiz). Många andra länder har laglig dödshjälp, även länder i Europa, och när man infört det har man nästan alltid hänvisat till individens rätt att själv bestämma. Denna rätt är inskriven i Europadomstolen och i många länders grundlagar.Det tog Socialstyrelsen tio dagar att i ett beslut tala om att de inte får fatta det beslut Pernilla, tillsammans med jurister, bett om. Pernillas ansökan blev alltså avvisad. Det beslutet är nu överklagat till Förvaltningsrätten i Stockholm. Pernilla tycker att Socialstyrelsen gjorde det väldigt enkelt för sig genom att mer eller mindre direkt säga att det inte är deras bord. Det är alltså den fråga som nu ska prövas i Förvaltningsrätten och inte själva frågan om rätt till dödshjälp. Men Pernilla och hennes jurister ger inte upp, de är beredda på att gå till Europadomstolen om det behövs. Hjälp till att äga din sorg här: https://plus.acast.com/s/utan-dig-ag-din-sorg. Hosted on Acast. See acast.com/privacy for more information.

Part 1 of Outside the Helmet with Billy Zureikat This episode of "Outside the Helmet with Billy Zureikat" takes you on an inspiring journey through the life of Billy, a former sports journalist and ESPN employee, who faced a life-altering diagnosis of Limb Girdle Muscular Dystrophy 2L (LGMD2L). Join us as we explore Billy's childhood in the Chicago area, his love for basketball, and his experiences covering iconic sports teams. Delve into the impact of LGMD on his life, from the early signs affecting his basketball prowess to the eventual diagnosis. This episode is a captivating blend of personal anecdotes, sports passion, and the resilience of the human spirit, providing listeners with a unique and heartfelt perspective on life outside the helmet. Make sure to follow PODcakes here on Spotify and please leave us a comment on what you thought of this episode. Even if it's just a single word. ________________________________________________________ Billy's Socials www.trippingbillyz.com Instagram: therealbillyz YouTube: @therealbillyz Linktr.ee/therealbillyz ________________________________________________________ Donate to the Muscular Dystrophy Association to Billy's Donor Drive https://mda.donordrive.com/index.cfm?fuseaction=donorDrive.event&eventID=1391 ________________________________________________________ Email guest suggestions to: thePODcakes@gmail.com ________________________________________________________ PODcakes is also on Motorcycles and Pancakes YouTube Channel ________________________________________________________ Follow PODcakes on Instagram: MotorcyclesandPancakes ________________________________________________________ Supporting Men's Mental Health: PODcakes, Motorcycles and Pancakes Men, remember that YOU ARE NOT ALONE! The fragility of men's mental health can lead to rapid and profound struggles. If you find yourself grappling with depression or suicidal thoughts, reaching out for help is not a sign of weakness; it is a profound display of strength. Your life is invaluable, and you hold significant meaning for those who care deeply about you. Remember, you matter, and there is support available. If you are in crisis, please call 988 for the suicide prevention hotline inside the United States OR dial 911 Resources to help you find help www.headsupguys.org www.betterhelp.com "Suicide does not end the pain. It just spreads it to your loved ones." Jimmy Carr ________________________________________________________ *PODcakes and Motorcycles and Pancakes are not affiliated with HeadsUpGuys or Betterhelp. I just want you to be happy, get help and live this wonderful life. ________________________________________________________________________ All PODcakes and Motorcycles and Pancakes are a Moto-Cakes Media Production. All Rights Reserved 2024

Dan joins David Rintell, Head of Patient Advocacy at BridgeBio to share the story of his long diagnostic odyssey and how ultimately a cancer scare attributed to his LGMD2I/R9 diagnosis. Dan shares that, during this time, he felt relief receiving a diagnosis, but it was quickly paired with the fear of facing the unknown of a progressive neuromuscular disease.   Dan describes the challenges of traveling, living alone and developing the constant fear of falling. Fiercely independent, Dan is concerned about the future. Living with a progressive condition means that you are always forced to adapt and plan – as daily life gets harder and harder. Dan talks about the importance of connecting with others who are living with the same condition and how he looks for the blessings in life. Even though the prognosis of LGMD2I/R9 is scary, Dan remains hopeful that at some point there may be something that will help him with the progression of his disease.   Divya Reddy, M.D., the Medical Director at ML Bio Solutions, a BridgeBio company, describes how LGMD2I/R9 (also called “LGMD R9 FKRP-related” in the new proposed nomenclature) is an inherited disease caused by a mutation in the FKRP gene. The FKRP gene is involved in helping muscles build a glycoprotein called alpha-dystroglycan. When the gene doesn't work correctly, it causes damage to muscle tissue and over time develops into scar-like, fibrotic tissue. As fibrotic tissue overtakes healthy muscle tissue, muscle strength and function declines, and LGMD2I/R9 patients lose the ability to perform routine daily activities unassisted – such as walking or standing up. To learn more about LGMD2I/R9 and the LGMD community visit the LGMD Awareness Foundation, the CureLGMD2i Foundation, and The Speak Foundation.

CME credits: 0.25 Valid until: 29-06-2024 Claim your CME credit at https://reachmd.com/programs/cme/the-future-of-muscular-dystrophy-management-updates-for-limb-girdle-muscular-dystrophy/15318/ Limb-girdle dystrophy (LGMD) is a group of inherited neuromuscular diseases with at least 34 variants, all affecting muscles of the limb-girdle region. Because LGMD is so variable, it can be hard to detect and there are no FDA-approved treatments currently. Advances in gene transfer therapy have been slow to emerge. However, helping clinicians detect LGMD and know the next best steps is critical to effective management of LGMD, along with identifying patients for clinical trials.=

Host: Jennifer Caudle, DO Guest: John F. Brandsema, MD Guest: Vamshi K. Rao, MD Limb-girdle dystrophy (LGMD) is a group of inherited neuromuscular diseases with at least 34 variants, all affecting muscles of the limb-girdle region. Because LGMD is so variable, it can be hard to detect and there are no FDA-approved treatments currently. Advances in gene transfer therapy have been slow to emerge. However, helping clinicians detect LGMD and know the next best steps is critical to effective management of LGMD, along with identifying patients for clinical trials.

Lacey joins David Rintell, Head of Patient Advocacy at BridgeBio to talk about how LGMD2I/R9 has impacted her life. When Lacey was 16, she was diagnosed with a progressive neuromuscular disease, known as LGMD. The only question she had for the doctor was whether she could one day become a mother. Without additional explanation, she was told that LGMD2I would keep her from having children. For years, Lacey lived in denial. Despite the limitations of her disease, she charged ahead with her life. She runs a business with her husband. She is a wife, mother, and foster parent. And in 2007, when she received the diagnosis of LGMD type 2I, she became an advocate for her LGMD2I community when she formed an LGMD2I Facebook group so that people with LGMD2I could connect and share information. Anna Wade, Ph.D., Chief Operating Officer at ML Bio Solutions, a BridgeBio company, provides an overview of LGMD2I. She explains how LGMD2I, a neuromuscular disease, progresses and how it damages the muscles throughout the body.

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 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)

Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode! Joining us for this episode is Dr. Hong Li, a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde. She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer.If you want to hear her on other episodes of DNA Today tune into Episode 177 where we nerded out about the power of whole genome sequencing (which is a great precursor to this conversation) and Episode 202 about Duchenne Muscular Dystrophy.In addition to her role at PerkinElmer, Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.Dr. Hong Li is a clinical and biochemical geneticist at Emory University School of Medicine who is passionate about diagnosing and treating children and families with genetic and metabolic diseases. She also oversees the Emory Metabolic Clinic, serves as Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), where she is extensively involved in Georgia's NBS development, implementation, and clinical follow-up for children with metabolic disorders, is the Vice-Chief of the genetics section at Children's Healthcare of Atlanta and geneticist of the multidisciplinary differences of sex development (DSD) clinic at CHOA and the site PI of the DSD translational research network (DSD-TRN). She also serves as the medical director of the Emory CTCF-related disorder (CRD) center.Dr. Li also holds multiple educational roles, including sponsoring the first Emory Genetics Interest Group at Emory College and School of Medicine to foster interest and attract intelligent students to join the growing field of medical genetics! Her research interests are primarily devoted to exciting clinical trials for genetic/metabolic diseases, and she is the principal investigator for multiple Phase I/II and III clinical trials. She is also interested in new gene discovery and better defining the phenotype of rare genetic diseases.On This Episode We Discuss:Symptoms that would warrant immediate genetic testing after birthStarting with whole genome sequencing (WGS) versus exomeOther tests that are useful for babies in the NICU beyond the genomeHow laboratories are maximizing the genome data for babies in a medical crisisSamples used for urWGS (ultra rapid WGS) and newborn screeningTrio testing with parents to rule out variants of being causative of symptomsurWGS minimizing healthcare costsWhy timing is so important for babies in the NICUHow results from urWGS can influence treatment plansHow projects like Project Baby Bear and Project Baby Deer are paving the way for whole exome sequencing as part of newborn screening Here is an interesting article from PerkinElmer about expanding into ultrarapid whole genome sequencing. During the interview Kira mentioned two episodes about the Telomere to Telomere Consortium which officially finished the complete human genome sequence in 2022. Dr. Eric Green shares his expertise in Episode 183 followed by Dr. Miga and Dr. Phillippy in Episode 184. Stay tuned for the next new episode of DNA Today on Friday, March 17th when muscular dystrophy experts Dr. Louise Rodino-Klapac (from Sarepta) and Livija Medne (Children's Hospital of Philadelphia aka CHOP) share their expertise specifically about limb-girdle muscular dystrophy. 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. 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. You can visit perkinelmergenomics.com for more information. (Sponsored)If you've been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I'm drinking is from Four Sigmatic. I'm really picky about my coffee, it's got to be bold, not watery. And I've been really happy with Four Sigmatic. Here's the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don't taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four Sigmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that's FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (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)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.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.10.26.513898v1?rss=1 Authors: Gabbiani, F., Preuss, T., Dewell, R. B. Abstract: The processing of visual information for collision avoidance has been investigated at the biophysical level in several model systems. In grasshoppers, the {eta} model captures reasonably well the visual processing performed by an identified neuron called the lobular giant movement detector (LGMD) as it tracks approaching objects. Similar phenomenological models have been used to describe either the firing rate or the membrane potential of neurons responsible for visually-guided collision avoidance in other animals. In goldfish, the {kappa} model has been proposed to describe the Mauthner cell, an identified neuron involved in startle escape responses. In the vinegar fly, a third model was developed for the giant fiber neuron, which trigger last resort escapes immediately before an impending collision. One key property of these models is their prediction that peak neuronal responses occur a fixed delay after the simulated approaching object reaches a threshold angular size on the retina. This prediction is valid for simulated objects approaching at a constant speed. We tested whether it remains valid when approaching objects accelerate. After characterizing and comparing the models' responses to accelerating and constant speed stimuli, we find that the prediction holds true for the {kappa} and the giant fiber model, but not for the {eta} model. These results suggest that acceleration in the approach trajectory of an object may help distinguish and further constrain the neuronal computations required for collision avoidance in grasshoppers, fish, and vinegar flies. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Are you up to date on how to manage patients with LGMD, DMD, and SMA? Listen to these clinical experts to learn more. Credit available for this activity expires: 10/11/2023 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/981943?src=mkm_podcast_addon_981943

Until her early forties, Leanne Watson was a typical, able-bodied, somewhat privileged wife and Mum to three kids. However, in 2007, that all changed, when, after numerous attempts at having unusual symptoms explained, Leanne found a GP who took her seriously and discovered that she may have a form of muscular dystrophy. Two days later, after a muscle biopsy, her neurologist confirmed she did indeed have Limb Girdle Muscular Dystrophy (LGMD), a somewhat ambiguous form of muscular dystrophy that would progress in a relatively unpredictable way. She was told 'you won't die from LGMD but you'll die with it'. Since then, Leanne's symptoms have advanced and she and her family have adjusted, compromised, sacrificed and fought hard to make living with a disability work for her. Up until ten years ago, she could walk. Until six years ago, she could shower herself. Until five years ago, she could move from one seat to another. Until three years ago, she could turn in bed. Until two years ago, she could raise her arms. She will never thank LGMD for the emotional and physical pain and limitations it has wrought on her. But she is grateful that these struggles have forced her to be part of a mix of impressive, tough, empathetic, resourceful, and intelligent individuals that are stakeholders of one of the largest marginalised groups. In recent years, Leanne has cultivated a highly successful blog, Leanne's Wheel Life, about her journey as a disability advocate, with a particular emphasis on what everyone can do to make the world, including holiday accommodation, more accessible. As someone who shares her passion for an accessible future, it was a real honour to chat with Leanne a few weeks back and I hope this episode inspires all who listen to it to make tangible, long-lasting changes to your properties to ensure everyone can enjoy them.

On episode 88 of Beyond Labels & Limitations, John Graybill shares what his day looks like. John is ambulatory, 44 years old, been living with the diagnosis for 27 years but the first signs of weakness showed up 33 years ago at the age of 12, and he hasn't worked since 2006 (16 years ago). This podcast is to show what your life could look like, if you have LGMD, but your life could also be better in terms of strength, depending on what type of LGMD you have and the mutations. So, use this podcast as a rough outline of what your life could be like if you were diagnosed at 17 with LGMD2A/R1. ____________________ Connect with John: YouTube Channel Website Email: BLLjenjohn@gmail.com ____________________ "Desire to Inspire" TKG

In this week's podcast, Neurology Today's editor-in-chief discusses a call to action to address unmet needs of women with Parkinson's; a promising advance for people with severe spinal cord injuries, and a novel gene therapy for limb girdle muscular dystrophy.  

On episode 73 of Beyond Labels & Limitations, John Graybill shares his daughters success climbing a rock wall, how that inspired him to get up from the toilet after a long day sitting in a scooter and what can you be thankful for with having LGMD. ___________________________ Follow John: Website YouTube Channel Email: BLLjenjohn@gmail.com ___________________________ "Desire to Inspire" TKG

Limb-girdle muscular dystrophies (LGMDs) are a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas. The various forms of LGMD are caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in muscle maintenance and repair.

On episode 70 of Beyond Labels & Limitations, John Graybill shares a recent fall he had while walking from the bathroom, a halloween party he went to and how LGMD is effecting sleep. ______________________ Connect with John: Website YouTube Channel Email: BLLjenjohn@gmail.com ______________________ "Desire to Inspire" TKG

On episode 65 of Beyond Labels & Limitations, John Graybill talks about the LGMD Awareness Day which is every September 30th. This day is important in spreading awareness about LGMD. Go to LGMD Awareness Foundation to learn more about LGMD. John also shares some physical struggles he's had over the past week and his upcoming blood work. There are 3 tests he asks for and they are: CPK, Vit D., cCRP or CRP. _______________________________ Connect with John: Visit the Website Subscribe on YouTube Email: BLLjenjohn@gmail.com ________________________________ "Desire to Inspire" TKG  

On episode 64 of Beyond Labels & Limitations, John Graybill shares his take away from the 2021 International LGMD Conference, which was put on by the Speak Foundation. If you missed the conference you can view all 4 days at this link: 2021 LGMD International Conference John also shares his latest supplement, Garden of Life Company. Do your own research to see if this supplement will be of benefit to you. Lastly, John shares a tip for neck stiffness. _________________________ Connect with John: Subscribe on YouTube Visit the Website Email: BLLjenjohn@gmail.com __________________________ "Desire to Inspire" TKG

In this episode, I chat with Dr. Monkol Lek, who is an assistant professor of genetics at Yale University, and an avid researcher with his own established lab, the Lek Lab, at Yale Medical School. He is also part of the research team at Cure Rare Disease, an organization with a mission to develop custom therapeutics that are as unique to the individuals they are meant to treat. In this podcast, Dr. Lek discusses what piqued his interest in rare disease research, his extensive background and experience, topics of interest, and much more! Dr. Lek received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Dr. Lek then did his post-doctoral training in Daniel MacArthur's lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute. He was the lead author/analyst for the Exome Aggregation Consortium (ExAC) project that was published in Nature 2016. Dr. Lek then went on to lead the NIH funded Broad Center for Mendelian Genomics (CMG) analysis team. As lead analyst, he oversaw the analysis strategy for all major CMG collaborations and organized monthly meetings to foster sharing of new methods and analysis amongst the rare disease community. He also coordinated the data processing and preliminary analysis of NIH Gabriella Miller Kids First (GMKF) cohorts sequenced or reprocessed at the Broad Institute. Dr. Lek has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G). During his time in the Broad Institute, he led the exome/genome analysis of MYOSEQ (European cohort of >1000 LGMD patients) and SeqNMD (an international consortium of undiagnosed rare muscle diseases) which has resulted in novel disease gene discovery. Now, Dr. Lek has his own established lab, the Lek Lab. The Lek lab was established in January 2018 at Yale School of Medicine and is focused on understanding the genetic mechanism of rare diseases that may lead to rational approaches for therapies. Learn about Cure Rare Disease, an organization Dr. Lek researches for! Website: https://www.cureraredisease.org/ Instagram: https://www.instagram.com/cureraredisease/ ----- Hope you all enjoyed this one; See you on Saturday for a new episode! In the meantime, keep up to date with my podcast and involvement (Lately, I've been cross-podcasting!): https://linktr.ee/theraredisorderpodcast Shivani Vyas ☺ --- Support this podcast: https://anchor.fm/theraredisorderpodcast/support

On episode 63 of Beyond Labels & Limitations, John Graybill talks about a few things. First of all, the upcoming 2021 LGMD International Conference. This is huge and is put on by The Speak Foundation. If you would like to attend please go to: The Speak Foundation National LGMD Conference The conference starts Friday, September 17 2021 and ends Monday, September 20, 2021.  John also shares about a pinched nerve, how his mind goes back into judgment and comparing. Lastly, John shares how he feels LGMD is like the game Jenga. _____________________________ Connect with John: Subscribe on YouTube Visit the Website Email: BLLjenjohn@gmail.com ______________________________ "Desire to Inspire" TKG

On episode 57 of Beyond Labels & Limitations, John Graybill talks about how he sees his life with LGMD. John was diagnosed in 1995 at the age of 17. He thought his life was over when the doctors told him he had muscular dystrophy. John gave up on life. When John met Wayne Dyer, his perspective on life changed. He attended college, where he studied psychology, and started to look at how he saw himself with this disease. Ultimately, over time John began to see that this disease was here to teach him and that it was up to him to see the lessons if he wanted to live a happy life. _________________________ Connect with John:  Visit the Website Subscribe on YouTube Email: blljenjohn@gmail.com __________________________ "Desire to Inspire" TKG

In episode 55 of Beyond Labels & Limitations, John Graybill shares what he has learned over the course of 26 years being diagnosed with LGMD.  1. Don't believe everything I think 2. Accept constant change 3. A belief can be powerful when given enough attention 4. Appreciate what I have while I have it 5. Let go of control ______________________________ Connect with John: Subscribe on YouTube Visit the Website Email: BLLjenjohn@gmail.com ______________________________ "Desire to Inspire" TKG

On episode 52 of Beyond Labels & Limitations, John Graybill shares what keeps him motivated to not give up. He shares how a 3 year old helped him see more clearly. The mindset is a big determining factor in the course of your life regardless of having LGMD or not. One thing to keep in mind is that if you think you can/cannot, you're right about it. How do you prevent your mind from ruining your life with LGMD? John shares what works for him and it's not a "okay, I did that and now move on." No. The mindset and working with negative thoughts is a daily ordeal. ______________________________ Connect with John: Subscribe on YouTube Visit the Website Email: BLLjenjohn@gmail.com ______________________________ "Desire to Inspire" TKG

CME credits: 0.25 Valid until: 06-05-2022 Claim your CME credit at https://reachmd.com/programs/cme/updates-muscular-dystrophy-focus-lgmd/12478/ Dr. Colin Quinn and Dr. Matthew Wicklund discuss the genetic and pathophysiologic underpinnings of limb girdle muscular dystrophy, as well as the use of appropriate diagnostic tests for accurate identification of LGMD.

CME credits: 0.25 Valid until: 06-05-2022 Claim your CME credit at https://reachmd.com/programs/cme/updates-muscular-dystrophy-focus-lgmd/12478/ Dr. Colin Quinn and Dr. Matthew Wicklund discuss the genetic and pathophysiologic underpinnings of limb girdle muscular dystrophy, as well as the use of appropriate diagnostic tests for accurate identification of LGMD.

In episode 43 of Beyond Labels & Limitations, John Graybill talks with Amanda about her journey from being diagnosed with Limb Girdle Muscular Dystrophy to Anti-HMGCR. At first Amanda shares optimism about going from an incurable genetic disease like LGMD to an autoimmune disease where there are treatments available. An important part of navigating this course is the "self talk" she has with herself. There were times where she didn't know how her life would turn out, especially when confronting falls or other mobility issues. Looking at the present and what she is currently going through was a big part of her success in dealing with both of these conditions. The testing Amanda had done was called, "Myositis Panel". One of the antibodies they test for is Anti-HMGCoA Reductase Antibodies. ______________________________ Connect with John: Subscribe on YouTube Visit the Website Email: BLLjenjohn@gmail.com ______________________________ "Desire to Inspire" TKG

“Living with muscular dystrophy feels like you're founding a startup. You know exactly what you want to create, and yet you can't find one existing model on how to get there.” Today, we're going to dive into the world of scary diagnoses and how to push your path forward. We address: How do I navigate the status quo and bureaucratic considerations when starting a nonprofit? What realities should an aspiring entrepreneur accept before taking the leap? How do I stay focused on my mission as an entrepreneur in a fast-paced world filled with distractions? How do I effectively pivot my business amid the various effects of the pandemic? How can I build my brand through collaboration with others? Karen Morales welcomes Rich Horgan, Founder and President of Cure Rare Disease. A couple of months ago, we spoke about his journey to create the first nonprofit to cure muscular dystrophy with CRISPR technology. This week, Rich announced that Cure Rare Disease formally met with the FDA for the pre-IND meeting—the meeting that comes before drug approval. CRD received positive comments regarding their studies and their proposed plan to move forward ultimately into the clinic for the first customized therapeutic. Karen herself recalls the daily challenges of living with Limb-girdle muscular dystrophy type 2B. When she was diagnosed with the disease at age 20, she remembers receiving very little support beyond non-committal words of “encouragement” such as, “We'll figure this out someday,” or “The science isn't there yet.” The medical community has made leaps and bounds in dissecting the ins-and-outs of muscular dystrophy, and yet to Karen, things are almost no different from 1998. 22 years later and there is still no cure, no drug to halt or ease symptoms, no approved lifestyle changes, exercise programs, or even any agreed upon supplements. At last, a breakthrough may be on the horizon. Rich discusses how living with a younger brother with a super-rare and fatal form of muscular dystrophy inspired him to create his nonprofit, and how his path led him to announce that a cure for muscular dystrophy is finally in our sights.   3 MAJOR POINTS DISCUSSED The choice between entrepreneurship and a traditional career comes down to a few very specific moments. Consider the contract that comes your way, dictating the “reliable” salary you're to receive week after week as long as the business continues to operate. With entrepreneurship, the salary that you get (or don't get) is a function of your own performance—and for most people, this is a scary prospect. Entrepreneurship demands very high risk-tolerance. If you're able to accept and prepare for that fact that episodes of failure will become the norm, and that you'll be faced with a year's worth of runway at the beginning of your journey, it becomes easier to take the dive. There's nothing like the feeling you get once you see your vision turned to reality, when your plan is successfully executed, when your idea becomes applied. You may experience more “lows” in your career as an entrepreneur compared to a traditional employee, but on the other hand, the “highs” are likewise on a completely different level. Collaboration is COVID-proof. It's hard enough in normal times to maintain our focus on our goals as an entrepreneur, much less when we go on the journey alone. As much as we want to treasure our big idea and possibly even want to keep it under wraps until we're ready to execute, the fact of the matter is that collaboration with and support from other like-minded people always pushes our agenda forward. With Coronavirus disrupting literally every aspect of our lives, going at our entrepreneurial ventures alone simply won't get us anywhere in the long-term. Reach out to those you can make a difference to and receive support from in return. You never know what doors they can open for you and your business. RESOURCES Cure Rare Disease Rich Horgan is the Founder and President of Cure Rare Disease. He is an entrepreneur with a particular passion for Duchenne Muscular Dystrophy (DMD) and other rare diseases, motivated by a younger brother impacted by the disease.   Rich holds a BS from Cornell University where he graduated summa cum laude and an MBA from Harvard Business School where he was awarded the Blavatnik Fellowship for Life Science Entrepreneurship.   Connect with Rich on LinkedIn Follow him on Twitter   Karen Morales is founder and brand champion at Marketing Magnet. Marketing Magnet was founded by Karen and her lean team of Fortune 500 marketing and advertising talent. We're a world-class marketing department that has decided to take our big brand experience and direct it at the clients we want to serve: purpose-driven enterprises. Our secret sauce is our ability to focus companies on three marketing pillars to create great impact. If you are looking for a solution to a marketing challenge, a specific project to be completed or a team to drive marketing on your behalf, we can help. More about Karen Find us on Facebook Visit our website Find us on Instagram