Podcasts about spinraza

What if the only thing standing between you and a life-saving treatment was a price tag? For many living with Spinal Muscular Atrophy, that's the reality—Spinraza, one of three FDA approved treatments for SMA costs about $425,000 per injection. Beyond the medical challenges, families face crushing financial barriers and questions of accessibility that differ drastically from country to country. This week, we hear from brothers Derek and Justin. Justin lives with SMA type 1, and Derek—his brother and caregiver—has transformed their experience into a mission. He founded SOAR, a nonprofit dedicated to supporting the SMA community by providing community outreach and support. Under SOAR, Derek created the SMA Support Mates Program, which connects kids and young adults with older mentors who know exactly what it's like to live with SMA. Together, we talk about the urgent fight for affordable treatments, the stark contrast in accessibility between the U.S. and Vietnam, and how community can light the path forward. This interview has been edited from an episode of The Disability Myth. If you would like to hear the longer program, check out the podcast episode on YouTube, Spotify, Apple Podcasts, and Amazon Music. This program is hosted and produced by Dominick Trevethan. Useful links: SOAR's official website: https://www.sma-awareness.com/ SMA Support Mate Program: https://forms.gle/tdDS1iVPa27tbooq5 SOAR Instagram: https://www.instagram.com/soar.sma_awareness?igsh=MWt4dTBmeW5uYzByYw== SMA Support Mates Program The post SOAR: Advocating for SMA – Pushing Limits – September 5, 2025 appeared first on KPFA.

Since McKinney Health burst onto the scene in 2022, it has been carving out its place at the intersection of health and life. For the second year in a row, the agency has landed on the MM+M Agency 100 list with new work for clients including Indivior's Sublocade and Biogen's Spinraza. In its latest study, McKinney offers clients insights into how to navigate the state of constant disorientation and uncertainty that is reshaping health, trust, and consumer behavior: The Perma-Swirl. Visit https://mckinney.com/perma-swirl/ to download the full report. Step into the future of health media at the MM+M Media Summit on October 30th, 2025 live in NYC! Join top voices in pharma marketing for a full day of forward-thinking discussions on AI, streaming, retail media, and more. Explore the latest in omnichannel strategy, personalization, media trust, and data privacy—all under one roof. Don't wait—use promo code PODCAST for $100 off your individual ticket. Click here to register! AI Deciphered is back—live in New York City this November 13th.Join leaders from brands, agencies, and platforms for a future-focused conversation on how AI is transforming media, marketing, and the retail experience. Ready to future-proof your strategy? Secure your spot now at aidecipheredsummit.com. Use code POD at check out for $100 your ticket! Check us out at: mmm-online.com Follow us: YouTube: @MMM-onlineTikTok: @MMMnewsInstagram: @MMMnewsonlineTwitter/X: @MMMnewsLinkedIn: MM+M To read more of the most timely, balanced and original reporting in medical marketing, subscribe here.

In the week since Donald Trump took office, he's caused quite the stir with healthcare-centered moves that include ordering the Department of Health and Human Services to stop communications, hiring and travel and announcing that he would withdraw the U.S. from the World Health Organization. Wednesday, the U.S. Senate Finance Committee convenes to vote on the controversial nomination of Robert F. Kennedy, Jr. for health secretary—a vote that Jefferies analysts said they expect to be “close.” Biogen continues to grab headlines this month, as the latest chapter in the Sage saga saw the smaller biotech rejecting its neuro partner's unsolicited buyout offer. Meanwhile, Biogen laid off an undisclosed number of employees from its research unit, just as a higher dose of its Ionis-partnered spinal muscular atrophy therapy Spinraza was accepted for review by both the FDA and EMA. Elsewhere, the weight loss space continues to click on all cylinders, with Versant Ventures debuting its newest obesity biotech Helicore Biopharma on Tuesday with $65 million in series A funds, and two obesity-focused companies, Aardvark Therapeutics and Metsera, seeking entry to the public markets. These up-and-comers will have to compete against the likes of Eli Lilly and Novo Nordisk, the latter of which reported data last week showing that its next-gen obesity drug amycretin could elicit up to 22% weight-loss. And Veru announced that its enobosarm could significantly improve the quality of weight loss in seniors also taking Novo's Wegovy. Another busy therapeutic space is Duchenne muscular dystrophy, where analysts predict a lot of action in the next couple of years, with a number of data readouts and regulatory submissions. And finally, Annalee Armstrong caught up at JPM with Novavax CEO John Jacobs, who said the vaccine maker is at a pivot point.

* We should all be so lucky as to have vision like that of the mantis shrimp: Not only do its eyes possess four times as many color receptors as a human's, it can see UV, visible and polarized light as well. * The rise in global temperatures has led to flowers emitting less scent. * Lightning hasn't brought down an airplane since 1963, thanks to engineering that allows a bolt's electric charge to run through and out of the aircraft. * Spinraza, a drug prescribed for spinal muscular dystrophy, has a list price of 0,000. * By 2018, more...Article Link

Join Sheila and Sara this week as they cover Osteogenesis Imperfecta and Neuromuscular Diseases (with a primary focus on DMD). We also touch on Becker MD, congenital MD, facioscapulohumeral muscular dystrophy, Myotonic dystrophy, Emery-Dreifuss MD and SMA. Please note, the content for SMA is from Campbell, but we recognize the quickly evolving presentation of that disease with the introduction of Spinraza and other medications. Please be mindful of this during the episode. Enjoy. Affiliate Codes: ------------------------------------------ Medbridge Affiliate website: https://www.medbridgeeducation.com/pushing-pediatrics Medbridge Affiliate Code: PUSHINGPEDS ----------------------------------------- Resources: Palisano, R. J., Orlin, M. N., & Schreiber, R. (2023). Campbell's physical therapy for children. Elsevier.

Welcome to the NeurologyLive® Mind Moments® podcast. Tune in to hear leaders in neurology sound off on topics that impact your clinical practice. In this episode, Thomas Crawford, MD, a pediatric neurologist at Johns Hopkins Medicine, spoke on the recently published 5-year analysis of the NURTURE study (NCT02386553), a long-term trial assessing the efficacy and safety of nusinersen (Spinraza; Biogen) in presymptomatic infants with spinal muscular atrophy (SMA). Crawford discussed the significance of the positive findings, the shift in conversations around treatment optimization in SMA, and how subgroup data may factor into the design of future trials. Looking for more Neuromuscular Disorders discussion? Check out the NeurologyLive® neuromuscular clinical focus page. Episode Breakdown: 1:20 – Benefits seen with nusinersen in NURTURE  4:10 – Changes in goals for treating SMA 6:05 – Complexities with getting infants therapy days after diagnosis 9:40 – Neurology News Minute 12:30 – Subgroup findings from NURTURE 15:20 – Ways to improve treatment optimization in SMA This episode is brought to you by Medical World News, a streaming channel from MJH Life Sciences®. Check out new content and shows every day, only at medicalworldnews.com. The stories featured in this week's Neurology News Minute, which will give you quick updates on the following developments in neurology, are further detailed here: World Health Organization Adds Several MS Treatments to List of Essential Medicines Ceribell's Status Epilepticus Software Receives FDA Clearance With CMS NTAP Coverage Included FDA Accepts New Drug Application for Long-Acting Form of Glatiramer Acetate Essential Tremor Agent Ulixacaltamide Continues to Show Positive Results in Essential1 Study Thanks for listening to the NeurologyLive® Mind Moments® podcast. To support the show, be sure to rate, review, and subscribe wherever you listen to podcasts. For more neurology news and expert-driven content, visit neurologylive.com.

Kyle Filkins and Kris Napper were both born with SMA, spinal muscular atrophy. Meeting as kids at The Muscular Dystrophy Association summer camp, they have developed a friendship and a documentary. After beginning the use of the drug Evrysdi, their rare genetic disease stopped progressing, and the oral form of this medication allowed them to avoid spinal injections. Now in their thirties, Kris and Kyle are advocating for the community of those with SMA, working on their documentary, and looking forward to more adventures.  Kris explains, "Just shortly before Evrysdi was released and made available, there was another drug called Spinraza that was the first treatment ever for our disability. It was a spinal injection, which poses some complications as far as it's a procedure with some risk. It can be painful, and there's the risk of hitting nerves and causing damage. It's not the most fun thing to go through, but it was beneficial. So I was doing that." "So for young children, just being diagnosed can be life-changing because you can stop that progression before it really hits. For us, we've already had significant progression. Still, hopefully, this will stop it where it is, and we'll be able to continue our lives for the foreseeable future, a lot better and longer than originally anticipated." Kyle elaborates, "Before I was on any type of therapy, I would go to bed one day able to do something, and I'd wake up the day after not being able to do that. And it would never come back. And it's pretty great to be able to go to bed and sleep securely knowing that what I did today I can, for the most part, probably do tomorrow. It's definitely life-changing. That's for sure." "There's been a lot of people interested in this story. Kind of piggybacking here on what Napper said, at the outset, it was really kind of just a budget film and like, "Oh, maybe they'll do cool activities and make jokes and stuff." But then with the advent of this therapy and specifically Evrysdi, that's really changed the outlook of the scope of the film, and for the better, as Napper said."  @KKtheFilm #SMA #SpinalMuscularAtrophy #MuscularDystrophy #RareDisease #Evrysdi  KrisandKyletheFilm.com SnappyClothing.com Evrysdi.com Download the transcript here

Kyle Filkins and Kris Napper were both born with SMA, spinal muscular atrophy. Meeting as kids at The Muscular Dystrophy Association summer camp, they have developed a friendship and a documentary. After beginning the use of the drug Evrysdi, their rare genetic disease stopped progressing, and the oral form of this medication allowed them to avoid spinal injections. Now in their thirties, Kris and Kyle are advocating for the community of those with SMA, working on their documentary, and looking forward to more adventures.  Kris explains, "Just shortly before Evrysdi was released and made available, there was another drug called Spinraza that was the first treatment ever for our disability. It was a spinal injection, which poses some complications as far as it's a procedure with some risk. It can be painful, and there's the risk of hitting nerves and causing damage. It's not the most fun thing to go through, but it was beneficial. So I was doing that." "So for young children, just being diagnosed can be life-changing because you can stop that progression before it really hits. For us, we've already had significant progression. Still, hopefully, this will stop it where it is, and we'll be able to continue our lives for the foreseeable future, a lot better and longer than originally anticipated." Kyle elaborates, "Before I was on any type of therapy, I would go to bed one day able to do something, and I'd wake up the day after not being able to do that. And it would never come back. And it's pretty great to be able to go to bed and sleep securely knowing that what I did today I can, for the most part, probably do tomorrow. It's definitely life-changing. That's for sure." "There's been a lot of people interested in this story. Kind of piggybacking here on what Napper said, at the outset, it was really kind of just a budget film and like, "Oh, maybe they'll do cool activities and make jokes and stuff." But then with the advent of this therapy and specifically Evrysdi, that's really changed the outlook of the scope of the film, and for the better, as Napper said."  @KKtheFilm #SMA #SpinalMuscularAtrophy #MuscularDystrophy #RareDisease #Evrysdi  KrisandKyletheFilm.com SnappyClothing.com Evrysdi.com Listen to the podcast here

Today we are talking to Aofie Brennan, president and CEO of Synlogic. Aoife was trained as a doctor at Trinity College Dublin following which she moved to the US. After completing her postdoctoral research at Beth Israel Aofie joined TolerX focused on developing autoimmune therapies for type I diabetes. Following which Aoife spent 6 years at Biogen ultimately becoming head of Rare Disease Innovation, she was involved in the development of Spinraza, Alprolix and Eloctate. Aoife moved from Biogen to Synlogic where she initially took the CMO role ultimately being elected as CEO and President of the company. She has led Synlogic since 2018. Beyond Synlogic Aoife is on the BoD of Cerevance and Fibrogen having also served on the board of RA Pharma through its acquisition by UCB.We discuss Aoife's career trajectory, her experiences at Biogen and decision to join Synlogic. Navigating the failure of their lead program in 2020 as a public company and building a deep pipeline today. In addition we discuss diversity and inclusion in our biotech industry today and ways this could be more impactful.Please join me in welcoming Aoife. 

Dr. Wendy Chung's childhood fascination with puzzles and mysteries gives her an edge when it comes to solving the mysteries of genetic diseases. In conversation with Host Catherine Price, Dr. Chung outlines her innovative work with The Human Genome project, her role in identifying the genes that cause spinal muscular atrophy and the collaborative efforts that went into developing life-sustaining treatments. Dr. Chung also discusses the GUARDIAN Program – which uses the newborn heel prick test to screen for a wide variety of genetic diseases, thereby providing equitable access to diagnosis and life-saving care to all infants. The views shared on this podcast solely reflect the expertise and experience of our guests. For more information visit nyp.org/Advances

An Auckland mum has moved her family across the ditch to Sydney so she can access a life-saving drug. Fiona Tolich has been advocating for Pharmac to fund Spinraza since she developed spinal muscular atrophy 12 years ago. Pharmac has announced it's funding the medicine for under 19s from this year, but Tolich isn't young enough. Fiona says she couldn't take the chance on waiting for funding for her age group. LISTEN ABOVESee omnystudio.com/listener for privacy information.

As some of you may know, our host Kira Dineen also co-produces the “Patient Empowerment Program” by n-Lorem. The podcast launched earlier this year and focuses solely on the needs of people with nano-rare diseases. These are people who have a unique pathogenic variant (aka mutation) that affects 30 or less people in the world, sometimes just one person. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where I picked his brain about nano-rare diseases. He is a scientist, physician, entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people with spinal muscular atrophy. So this week we are sharing an episode of the podcast where Dr. Crooke interviews Dr. Sessions Cole about the diagnosed odyssey for people with rare diseases. Dr. Sessions Cole shares his career being a neonatal pulmonologist and his involvement in the undiagnosed diseases network (UDN). Dr. Cole estimates that it can take up to 12 years to get a diagnosis for a patient with a rare genetic condition and that there could be as many as 30 million of these patients in the U.S. who are undiagnosed. The UDN is working to elevate the awareness of the diagnostic odyssey these patients undertake and diagnose up to one third of patients who are referred to the UDN. Dr. Cole is part of n-Lorem's access to treat committee (ATTC), the committee that evaluates and recommends patients to n-Lorem. In this episode, Dr. Cole discusses the robust processes involved in the evaluation of each application to n-Lorem and the hope and value that n-Lorem is providing to nano-rare patients today.To hear other episodes of the n-Lorem “Patient Empowerment Program'', subscribe on Spotify, Apple Podcast, their website, YouTube, or wherever you stream your podcasts. The host is Dr. Stan Crooke, videographer is Jon Magnuson of Mightyone Productions, producers are Jon Magnuson and Kira Dineen. Stay updated with n-Lorem on Twitter, Instagram, Facebook, Linked In, YouTube and their website, nlorem.org. Questions/inquiries can be sent to podcast@nlorem.org. Stay tuned for the next new episode of DNA Today on October 28th! New episodes are released every Fridays. In the meantime, you can binge over 200 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.

Synopsis: Stanley Crooke is Founder and CEO of n-Lorem Foundation, a nonprofit with the goal of discovering, developing and providing experimental ASO treatments to nano-rare patients for free for life. He joins us for a discussion about the business model behind rare diseases and how n-Lorem is looking to industrialize and scale the treatment of this unique population. Stanley talks about the challenges behind developing and bringing a new modality to the clinic, the company's collaboration with the FDA, and how n-Lorem seeks to be sustainable and scalable over time. Biography: Dr. Crooke is the founder, chairman and chief executive officer of n-Lorem, a nonprofit foundation focused on providing treatments for patients with nano-rare disease (1 to 30 patients worldwide), which he initiated in January 2020. Prior to n- Lorem, Dr. Crooke founded and was Chairman and Chief Executive Officer and Lead Scientist of Ionis Pharmaceuticals. During his tenure at Ionis, he led the scientific development of a new platform for drug discovery, antisense technology and the creation of one of the largest and more advanced development pipelines in the biotechnology industry, and commercialized several antisense drugs including, Spinraza, Tegsedi and others. Early in Dr. Crooke's career, he led the creation of the first broad anticancer program in the industry at Bristol-Myers, bringing numerous anticancer drugs to the market in the first five years of his career. He then assumed responsibility for worldwide R&D (president) at SmithKline Beckman (now GSK). During his tenure at SKB, Dr. Crooke led the restructuring of R&D and the development of several drugs that were commercialized. Dr. Crooke has also contemporaneously led a successful academic career becoming a full professor at Baylor College of Medicine and the University of Pennsylvania Medical School where he trained a number of PhD students and won several teaching awards. Dr. Crooke has been an active scientist throughout his career as well. Dr. Crooke has received a number of awards, most recently, Prix Galein Roy Vagellos Pro Bono Humanum Award, the American Chemical Society's E.B. Hershberg Award for Important Discoveries in Medicinally Active Substances, the Lifetime Achievement Award presented by the Oligonucleotide Therapeutics Society, the Scrip Lifetime Achievement Award and the 2019 Massry Prize. Dr. Crooke received his M.D. and Ph.D. degrees and house staff training at Baylor College of Medicine and has been an active scientist throughout his career. In 2021, Dr. Crooke has been named Distinguished Alumnus of both Baylor College of Medicine's Graduate and Medical schools and named one of the 20 of the most influential biopharma R&D executives by Endpoints News. He has published nearly 600 scientific publications, edited more than 20 books, has numerous patents, and led the development of more than 23 drugs that have been commercialized.

A drug which could radically change the lives of people who have spinal muscular atrophy is finally set to be funded in New Zealand. Spinraza is one of two new treatments to get the green light from Pharmac  It's the first drug for SMA to be fully funded here - and is priceless for families like Rachel Shaw's in Hawke's Bay. Her 11-year-old and 12-year-old have Spinal Muscular Atrophy, and her 7 year old Chloe carries the gene. See omnystudio.com/listener for privacy information.

Two new medicines are set to be funded by Pharmac, potentially affecting tens of thousands of patients. A proposal released this morning would fund Spinraza, a treatment for spinal muscular atrophy, that currently costs up to 390-thousand dollars a year. The second proposal would fund adrenaline auto-injector pens, such as EpiPens, for those with life-threatening allergies. Health Minister Andrew Little spoke to Guyon Espiner.

See omnystudio.com/listener for privacy information.

See omnystudio.com/listener for privacy information.

See omnystudio.com/listener for privacy information.

Dr. Aoife Brennan is an experienced physician scientist and drug developer responsible for the successful clinical development and registration of multiple transformative medicines. Aoife has served as Synlogic's president and chief executive officer since May 2018. She joined Synlogic in September 2016 as chief medical officer. Prior to Synlogic, Aoife spent six years at Biogen, most recently as vice president and head of the Rare Disease Innovation Unit, developing programs from pre-clinical to commercial. She has led programs across multiple therapeutic areas including the successful late phase development & registration of SPINRAZA® (nusinersen) for spinal muscular atrophy and ALPROLIX® and ELOCTATE® for Hemophilia B and Hemophilia A, respectively. Aoife serves as a member of the Board of Directors of Cerevance and Fibrogen, Inc, and previously served on the Board of Directors of Ra Pharmaceuticals until it's acquisition by UCB. Earlier in her career, Aoife led clinical development at Tolerx, a start-up biotech company focusing on immunotherapy for Type 1 diabetes. Aoife holds a medical degree from Trinity College in Dublin, Ireland and has completed post-graduate training in internal medicine, endocrinology and metabolism. She has completed post-doctoral training in clinical research and metabolism at the Beth Israel Deaconess Medical Center in Boston and is a graduate of the Harvard Medical School Scholars in Clinical Science Program.

Kathie M. Bishop, Ph.D. is our Senior Vice President, Chief Scientific Officer and Head of Rare Disease. Dr. Bishop has more than 20 years of experience in leading translational research and drug development, with a focus on novel therapeutics for the treatment of neurological and rare diseases. Dr. Bishop joined Acadia from LocanaBio, where she served as Chief Scientific Officer (CSO) and was responsible for research and development for RNA-targeted gene therapies for neurodegenerative and ocular diseases. Prior to LocanaBio, Dr. Bishop was CSO at Otonomy – where she led preclinical and clinical development of a pipeline of neurotology programs – and CSO of Tioga Pharmaceuticals. Prior to that, she served in various product development management roles at Ionis Pharmaceuticals including Vice President, Clinical Development where she led translation and development of multiple programs in the neurology franchise including the development and clinical trials for SPINRAZA® (nusinersen), the first approved treatment for patients with spinal muscular atrophy and winner of the 2017 Prix Galien Award for Biotechnology. Dr. Bishop also served in research and development leadership roles at Ceregene, a company focused on the development of AAV-based gene therapy products for the treatment of neurodegenerative disorders. She conducted post-doctoral work at the Salk Institute for Biological Studies in La Jolla and obtained her Ph.D. from the University of Alberta.Rett Syndrome: https://www.rettsyndrome.org/about-rett-syndrome/Acadia Pharmaceuticals: https://www.acadia-pharm.com/National Institutes of Health: https://www.nih.gov/National Organization for Rare Diseases: https://rarediseases.org/about/Spinraza: https://www.spinraza.com/Host: Kira DorrianProduced by the Northshore Schools Foundation, a Top-Rated “Great Nonprofits” award-recipient, “Guidestar” Gold Participant, and Best of a “Best of Northshore” nonprofit. We are on a Summer schedule. Join us on the third Monday of July, August and September for new episodes!Thank you, supporters! DonateInterested in sponsoring the Skills 4 Life Podcast? Contact us: podcast@nsdfoundation.orgFollow us on:InstagramFacebookSkills 4 Life FacebookTwitterLinked In

Pharmac is being forced to address health inequities that it perpetuates, to open up and be more transparent, and to actually communicate and speak to people with rare diseases when deciding what medicines to buy for them. For people like our next guest, it’s too little too late. Brent Walker has spinal muscular atrophy and has been wheelchair bound since he was three. He says access to the drug Spinraza would change his life, but he can’t wait any longer… he’s moving to Australia. See omnystudio.com/listener for privacy information.

We are thrilled to share a brand new podcast that Kira Dineen co-produces, the n-Lorem “Patient Empowerment Program”. The podcast just launched so we wanted to share the pilot episode with you! This podcast focuses solely, exclusively, on the needs of nano-rare patients. These are patients that have a unique pathogenic variant (mutation) that affects only them or less than 30 people worldwide. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where we picked his brain about nano-rare patients. He is a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people with spinal muscular atrophy. In this pilot episode, the host, Dr. Stan Crooke, is joined by actor and patient advocate Luke Rosen and pediatric geneticist Dr. Wendy Chung. This episode takes you on a journey to diagnosis and what it is like to live with a nano-rare disease.Luke Rosen is the board chair, KIF1A.org, vice president of patient engagement and government affairs at Ovid Therapeutics and father to Susannah. You may have seen him in Law & Order, Orange Is The New Black, Rescue Me, and Numb3rs. To learn more about KIF1A and the organization Luke and his wife, Sally, founded visit kif1a.org. You can follow Luke on Twitter @lukebrosen. Wendy Chung, M.D., Ph.D. is the Kennedy family professor of pediatrics in medicine, chief of the division of clinical genetics, department of pediatrics at Columbia University Medical Center, medical director of Columbia Genetic Counseling Graduate program and director of the clinical cancer genetics program at Columbia. Check out all the great work from Dr. Wendy Chung and her lab at Columbia by visiting wchunglab.com.The host of the show is Dr. Stanley Crooke, a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for driving the development of antisense or ASO technology, an RNA-targeted technology responsible for the commercialization of three best- and first-in class medicines and more than 40 drugs in development. In 2020, Stan formed n-Lorem to use this powerful technology to develop personalized ASO medicines for nano-rare patients (1 to 30 patients worldwide) for free, for life. On This Episode We Discuss:Susannah's journey to a diagnosisKif1A – and what a pathogenic variant (mutation) in this gene meansLiving with a nano-rare diseaseSusannah's courage and joyFinding a treatment for SusannahTo hear other episodes of the n-Lorem “Patient Empowerment Program”, subscribe on Spotify, Apple Podcast, their website, YouTube, or wherever you stream your podcasts. The host is Dr. Stan Crooke, videographer is Jon Magnuson of Mightyone Productions, producers are Jon Magnuson and Kira Dineen. Stay updated with n-Lorem on Twitter, Instagram, Facebook, Linked In, YouTube and their website, nlorem.org. Questions/inquiries can be sent to podcast@nlorem.org. Stay tuned for the next new episode of DNA Today on June 3rd! 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 info@DNApodcast.com. 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)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)

In 2020 China's pharmaceutical market passed an important milestone, a Deloitte report cited that China was expected to grow its pharmaceutical market volume by 2020 to $220 billion (USD) becoming the second largest market behind the US. The commercial potential is huge, so what do we know about the orphan drug (OD) potential in China? Fisentzos Stylianou discusses China's healthcare system, key challenges for OD manufacturers, Spinraza's commercialisation journey in China, and incentives available to OD manufacturers in China. Reference: https://www2.deloitte.com/cn/en/pages/life-sciences-and-healthcare/solutions/life-sciences.html Presenter: Aparna Krishnan, Partner – Global Operations Contributor: Fisentzos Stylianou, Analyst Producer: Operations team

“Let's talk about patients. That's where we have to always begin. This is about patients. I was tremendously impressed with how much the patient advocacy groups had accomplished, that helped us make judgments that are really complex and very dangerous judgments. All that played into the success. Then, of course, it was very rapidly approved around the world.” In this week's episode of The G Word, Dr Richard Scott, our Chief Medical Officer, is joined by Dr Stanley Crooke, M.D., Ph.D., the founder, chairman of the board and Chief Executive Officer of n-Lorem. In this episode, Dr Scott and Dr Crooke discuss the foundation of n-Lorem, the importance of patient advocacy groups and the spinal muscular atrophy treatment Spinraza. They also discussed the value of whole genome sequencing in newborn screening.

SMA News Today's multimedia associate, Price Wooldridge, reads an article about how a small group of children given the gene therapy after Spinraza's start showed only slight further gains; early treatment most important. Also, in her latest vlog DeAnn Runge explores the topic of furry friends. Pets are an important aspect of her life. She explains how she feels pets can benefit the lives of anyone living with SMA. Watch here: https://youtu.be/9Etax9E4cH0 Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/.

SMA News Today's multimedia associate, Price Wooldridge, discusses how surgery to correct kyphoscoliosis — an abnormal curvature of the spine found in children with SMA type 1 — also allows Spinraza treatment. As Ari Anderson prepares himself for upcoming surgery, he looks for a suitable mantra to help get him through the fight ahead. In his recent article, “Preparing for Surgery, I Search for a New Mantra,” he chronicles why he needs surgery and how having a phrase to help boost his morale is helpful to maintain that fighting spirit. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/.

SMA News Today's multimedia associate, Price Wooldridge, discuses how a study in symptomatic SMA children suggests Spinraza also works to return development to these nerve cells, especially if given early. Also, with a vaccine mandate looming, DeAnn shares how this adds stress to an already difficult situation where retaining caregivers is concerned. She points out that wage restrictions and the nature of the job itself already make finding reliable staff difficult. Adding a vaccine mandate on top of that makes it virtually impossible. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

BIG NEWS! https://www.businesswire.com/news/home/20220110005334/en/ FIVE KEY LINKS - Dr. Kaye's presentation - Listen to it again and again https://investor.stoketherapeutics.com/events/event-details/40th-annual-jp-morgan-healthcare-conference - AES 2018 Poster https://www.stoketherapeutics.com/wp-content/uploads/Stoke-Poster-Dec-1.pdf - STOKE Patent https://patents.google.com/patent/WO2017106377A1/en - #OneYearSooner - How we can make clinical trials happen faster https://www.syngapresearchfund.org/post/oneyearsooner - Sign up for Ciitizen - www.Ciitizen.com/SYNGAP1 SPREAD THE WORD Twitter.com/cureSYNGAP1/status/1480546972645793794?s=20 Linkedin.com/feed/update/urn:li:activity:6886314132866506753 Facebook.com/cureSYNGAP1/posts/946801809535615 WHO IS WHO AT STOKE https://www.cshl.edu/research/faculty-staff/adrian-r-krainer/ PhD Harvard 1986 https://www.linkedin.com/in/huwnash/ PhD Harvard 1997, EIR ATP since 2014 https://www.oligotherapeutics.org/officers/isabel-aznarez-ph-d/ PhD Toronto 2006 https://www.linkedin.com/in/barryticho/ MD PhD Chicago https://www.linkedin.com/in/edward-kaye-0a46a710/ MD Loyola Chicago COMPANIES Stoke https://www.stoketherapeutics.com/ $ACAD Acadia https://www.acadia-pharm.com/ $STOK OTHER GREAT LINKS DSF on the Monarch https://www.dravetfoundation.org/wp-content/uploads/2020/04/Stoke-Community-FAQ-April-2020.pdf It starts with Spinraza https://www.ninds.nih.gov/About-NINDS/Impact/NINDS-Contributions-Approved-Therapies/Nusinersen-Spinraza%C2%AE-%E2%80%93-Spinal-Muscular aka https://en.wikipedia.org/wiki/Nusinersen Grant made in 2003, Phase 1 in 2011 (dec) FDA approval in 2016 (Dec) https://www.curesma.org/fda-approves-spinraza-for-sma/ From: https://www.bizjournals.com/boston/news/2018/01/04/ex-sarepta-ceo-takes-helm-of-genetic-disease.html Stoke Origins: https://endpts.com/gene-therapy-startup-stoke-therapeutics-secures-another-90m-in-series-b-funding/ $40M from ATP in 2018. https://www.appletreepartners.com/portfolio#stoke-therapeutics IPO June 2019 $163M/ https://www.spglobal.com/marketintelligence/en/news-insights/trending/OTV6RnpzTCGYyRs_gx1m7A2 REMEMBER Raise funds at https://syngap.fund/give Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 43 of #Syngap10 - January 14, 2022 #StokedAboutStoke #ASO #SYNGAP1 #AcadiaPharma #StokeTx #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1 BIG NEWS! https://www.businesswire.com/news/home/20220110005334/en/  FIVE KEY LINKS - Dr. Kaye's presentation - Listen to it again and again https://investor.stoketherapeutics.com/events/event-details/40th-annual-jp-morgan-healthcare-conference - AES 2018 Poster https://www.stoketherapeutics.com/wp-content/uploads/Stoke-Poster-Dec-1.pdf - STOKE Patent https://patents.google.com/patent/WO2017106377A1/en - #OneYearSooner - How we can make clinical trials happen faster https://www.syngapresearchfund.org/post/oneyearsooner - Sign up for Ciitizen - www.Ciitizen.com/SYNGAP1 SPREAD THE WORD Twitter.com/cureSYNGAP1/status/1480546972645793794?s=20 Linkedin.com/feed/update/urn:li:activity:6886314132866506753 Facebook.com/cureSYNGAP1/posts/946801809535615 WHO IS WHO AT STOKE https://www.cshl.edu/research/faculty-staff/adrian-r-krainer/ PhD Harvard 1986 https://www.linkedin.com/in/huwnash/ PhD Harvard 1997, EIR ATP since 2014 https://www.oligotherapeutics.org/officers/isabel-aznarez-ph-d/ PhD Toronto 2006 https://www.linkedin.com/in/barryticho/ MD PhD Chicago https://www.linkedin.com/in/edward-kaye-0a46a710/ MD Loyola Chicago   COMPANIES Stoke https://www.stoketherapeutics.com/ $ACAD Acadia https://www.acadia-pharm.com/ $STOK   OTHER GREAT LINKS DSF on the Monarch https://www.dravetfoundation.org/wp-content/uploads/2020/04/Stoke-Community-FAQ-April-2020.pdf  It starts with Spinraza https://www.ninds.nih.gov/About-NINDS/Impact/NINDS-Contributions-Approved-Therapies/Nusinersen-Spinraza%C2%AE-%E2%80%93-Spinal-Muscular aka https://en.wikipedia.org/wiki/Nusinersen  Grant made in 2003, Phase 1 in 2011 (dec) FDA approval in 2016 (Dec) https://www.curesma.org/fda-approves-spinraza-for-sma/  From: https://www.bizjournals.com/boston/news/2018/01/04/ex-sarepta-ceo-takes-helm-of-genetic-disease.html Kaye said he was recruited by Stoke co-founder Adrian Krainer, with whom he previously worked at Genzyme before joining Sarepta in 2010. Krainer is perhaps best known for being an inventor of another “antisense” drug targeting a genetic disease, Biogen's spinal muscular atrophy treatment Spinraza. “He was one of the real originators of RNA therapy,” Kaye said. “I thought (Stoke) was at a point where it needed to be shepherded from preclinical development into the clinic. It was a really exciting opportunity.” Stoke Origins: https://endpts.com/gene-therapy-startup-stoke-therapeutics-secures-another-90m-in-series-b-funding/ $40M from ATP in 2018. https://www.appletreepartners.com/portfolio#stoke-therapeutics  IPO June 2019 $163M/ https://www.spglobal.com/marketintelligence/en/news-insights/trending/OTV6RnpzTCGYyRs_gx1m7A2  REMEMBER Raise funds at https://syngap.fund/give  Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a  Episode 43 of #Syngap10 - January 14, 2022   #StokedAboutStoke #ASO #SYNGAP1 #AcadiaPharma #StokeTx #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

SMA News Today's multimedia associate, Price Wooldridge, discusses how Spinraza improved fine manual dexterity in both hands of five children with SMA type 2 over 1.5 years of treatment, a case series shows. As the new year gets underway it's a great time to hear what motivates people. In Ari Anderson's recent column, “The Blessings That Spark My Ambitions for the New Year,” he talks about an opportunity that fell into place and how he's using that to propel future achievements. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

SMA News Today's multimedia associate, Price Wooldridge, reads a news article on how the delays in Spinraza treatment due to the COVID-19 pandemic did not directly result in worsening symptoms in children, a study in Italy says. Also, after reflecting on 2021, DeAnn shares what her plans are for 2022. Although she doesn't make resolutions, she's made goals and explains what they mean to her. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

SMA News Today's multimedia associate, Price Wooldridge, discusses how not having Spinraza therapy as prescribed – called treatment non-adherence – increases overall costs and healthcare use for SMA patients. Also, DeAnn Runge shares why December is a bittersweet time of the year. Despite that she's looking forward to the upcoming year. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

SMA News Today's multimedia associate, Price Wooldridge, discusses how delays of Spinraza treatment due to COVID-19 seem to affect children's function less than weaker family support, small study found. Plus, togetherness is something Alyssa Silva looks forward to during the holiday season. In her latest SMA News Today column, “Cherishing Togetherness During the Holidays,” she shares some of their family holiday traditions as well as points out why she cherishes them. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

SMA News Today's multimedia associate, Price Wooldridge, discusses an article about how blood levels of neurofilaments and the results of a nerve-muscle test may be biomarkers for SMA onset/severity and treatment response. Also, Sherry Toh's SMA News Today article, “As an Adult With SMA, I Need Access to Evrysdi, Too,” pulls at your heartstrings. DeAnn can relate to those feelings as it reminds her of when she was trying to access Spinraza. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

SMA News Today's multimedia associate, Price Wooldridge, discusses an article about how administering Spinraza by subcutaneous intrathecal catheter improved upper limb function in some spinal muscular atrophy patients. Plus, there are differing opinions on how to refer to a person with a disability. Halsey Blocher's recent column discusses this topic and talks about how there's not one right answer. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

My take on risdiplam vs Spinraza as someone with spinal muscular atrophy type 3 --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app Support this podcast: https://anchor.fm/smainvisiblelife/support

SMA News Today's multimedia associate, Price Wooldridge, discusses how Spinal Muscular Atrophy (SMA) children not helped by Zolgensma, are being enrolled in the Spinraza RESPOND trial. Plus, usually Kevin Schaefer reads his own columns, but today DeAnn Runge has the opportunity to share his latest column. Titled, “Embracing a New Chapter in Life With SMA,” Kevin writes about his longtime caregiver leaving and all the emotions surrounding it, of course putting his unique spin on it. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

SMA News Today's multimedia associate, Price Wooldridge, discusses a trial planned of Spinraza at high dose in Spinal Muscular Atrophy (SMA) patients who have used Evrysdi. Read the news article: https://smanewstoday.com/news-posts/2021/09/17/high-dose-spinraza-trial-sma-patients-using-evrysdi/ DeAnn Runge doesn't shy away from personal topics especially when she feels others can relate or offer advice. One of the added challenges, when you have a disability, is dealing with your period. She talks about how she manages it, but also discusses why she's looking for alternative options. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

Our guest this week is Chad Lunt of Menlo Park, CA. Chad is married to Cherisse and they have three children including Lucy, age 12, who has Type 1 Spinal Muscular Atrophy. We'll hear how the Lunt family through their faith, along with help from the Tess Research Foundation, the Gwendolyn Strong Foundation and the miracle drug Spinraza has helped Lucy overcome. And about their hopes for the future in this Special Fathers Network Dad to Dad Podcast.Tess Research Foundation - https://www.tessresearch.org Gwendolyn Strong Foundation - https://nevergiveup.org Email Chad - chad.t.lunt@gmail.comCherisse's Instagram: @chertluntSpecial Fathers Network - SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 500+ SFN Mentor Fathers, who are raising kids with special needs, have said: "I wish there was something like this when we first received our child's diagnosis. I felt so isolated. There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through."SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations. Special Fathers Network: https://21stcenturydads.org/about-the-special-fathers-network/Please support the SFN. Click here to donate: https://21stcenturydads.org/donate/

Dan Temple is a patient advocate for those with Spinal Muscular Atrophy (SMA) and he shares his treatment journey and actions he has taken to raise awareness about SMA.  We also talk about the drug treatments that have come onto the scene since he was first diagnosed when Dan was 2 years old.  He is now 49. Dan says, "Like I said, very important was that my lung function improved. I probably gained about ten years back from what I lost. I'm still on a feeding tube, but I couldn't eat by mouth for seven years, and the drugs helped my muscles start working better. So I can eat and drink by mouth a little bit. I don't do it a lot, but it's nice to be able to do it occasionally and have some food that I enjoy. And my hand, of course. The one finger I have is kept pretty strong. Thank God because if I lose that, I've got nothing." "In general, it's kept me from getting worse, and when the drugs came along, I was at the point health-wise where I probably didn't have a lot of time left. My lungs were getting so weak that I was going to have to be on a respirator soon. So, basically, the Spinraza and Evrysdi both saved my life and gave me another 20 years, probably." #SMA #SpinalMuscularAtrophy #RareDisease #Evrysdi #Spinraza #MDA #MuscularDystrophyAssociation #PatientAdvocate #Genentech #Biogen #SMAAwarenessMonth  

Dan Temple is a patient advocate for those with Spinal Muscular Atrophy (SMA) and he shares his treatment journey and actions he has taken to raise awareness about SMA.  We also talk about the drug treatments that have come onto the scene since he was first diagnosed when Dan was 2 years old.  He is now 49. Dan says, "Like I said, very important was that my lung function improved. I probably gained about ten years back from what I lost. I'm still on a feeding tube, but I couldn't eat by mouth for seven years, and the drugs helped my muscles start working better. So I can eat and drink by mouth a little bit. I don't do it a lot, but it's nice to be able to do it occasionally and have some food that I enjoy. And my hand, of course. The one finger I have is kept pretty strong. Thank God because if I lose that, I've got nothing." "In general, it's kept me from getting worse, and when the drugs came along, I was at the point health-wise where I probably didn't have a lot of time left. My lungs were getting so weak that I was going to have to be on a respirator soon. So, basically, the Spinraza and Evrysdi both saved my life and gave me another 20 years, probably." #SMA #SpinalMuscularAtrophy #RareDisease #Evrysdi #Spinraza #MDA #MuscularDystrophyAssociation #PatientAdvocate #Genentech #Biogen #SMAAwarenessMonth

August is SMA Awareness Month so we had a conversation with Nick Sinagra to learn about SMA and his journey with this rare disease.  Nick is a true leader for all the things he has accomplished and continues to accomplish, and for the attitude he brings to all that he does.  Plus hear about Nick's experience with Spinraza, a drug developed and FDA approved to treat SMA.

August is SMA Awareness Month, so we had a conversation with Nick Sinagra to learn about SMA and His Journey with this rare disease.  Nick is a true leader for all the things he has accomplished and continues to accomplish, and for the attitude he brings to all that he does.  Plus hear about Nick's experience with Spinraza, a drug developed and FDA approved to treat SMA. Nick's website: https://ableitpros.com/ Nick in the news: CBS Pittsburgh: The Importance of SMA Awareness Month Authority Magazine: Unstoppable Nick Sinagra Pharmacy Times: Living With and Treatment Options for Spinal Muscular Atrophy

SMA News Today's multimedia associate, Price Wooldridge, discusses improved lung function with Spinraza in a Spinal Muscular Atrophy (SMA) Type 2 child. Also, As DeAnn Runge awaits the arrival of her Jaco Robotic Arm she's doing some last minute cleaning. She even found a way to personalize her chair. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

A Tauranga couple have been forced to split up their family so their daughter can access treatment for Spinal Muscular Atrophy in Australia - treatment that Pharmac won't fund in New Zealand. They are among about ten New Zealand families who have moved countries since 2018 to access treatment for SMA. It comes as the Human Rights Commissioner calls on Pharmac to urgently review funding for the SMA drug Spinraza saying the agency's assessment of the drug is too narrow and doesn't account for the true costs to society. Investigative Journalist Guyon Espiner reports

SMA News Today's multimedia associate, Price Wooldridge, discusses how VRK1 mutations were found in two adult-onset Spinal Muscular Atrophy (SMA) Hispanics. In the forums there are a lot of great discussions going on. A topic creating a lot of buzz is the SSI Restoration Act of 2021. July being Disability Pride month is another topic with a lot of interest. Other topics include disability portrayed in media, what the line is between inspirational and inspiration porn and Spinraza injection day woes. There are also members in various stages of pursuing a Jaco robotic arm. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/ Visit the SMA forums https://smanewstoday.com/forums/

SMA News Today's multimedia associate, Price Wooldridge, discusses how Spinraza improves motor function in Spinal Muscular Atrophy (SMA) Type 3 children. In recognition of Disability Pride Month, DeAnn Runge reads the column ‘All of Us Will Become Disabled and Sick' by Brianna Albers. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

SMA News Today's multimedia associate, Price Wooldridge, discusses children with Spinal Muscular Atrophy (SMA) taking Spinraza, leanding to better swallowing and farther walking. Also, not only are the forums a great place to learn, they're a fabulous place to share where members can really relate to each other in a unique way. New categories have been added that emphasize that fact. Weekly Wins is a space to share weekly highlights and generally positive things. Would You Rather is new as well. In this forum there will be questions where you have to choose between two hypothetical situations. One of the biggest topics recently in the general forum is caregivers. Specifically how challenging it is to find them right now. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

One disease. Two families. Several different outcomes. Victoria Strong and Amy Medina share their experiences with Spinal Muscular Atrophy (SMA) Type 1 and how putting hope into action can change a disease forever.Links from today's episode:Read more of Victoria's story, learn about the Gwendolyn Strong Foundation, or shop Victoria's clothing brand at www.nevergiveup.org. Learn more about Amy Medina and her family at their CaringBridge site.Learn more about SMA here.

The mum of a Kent teenager with a rare disease says the decision to make a potentially life-extending drug available on the NHS is a dream come true. Mel Bolt from Minister has been campaigning for Spinraza to be made accessible to help her daughter Abbie, who has spinal muscular atrophy. The 15-year-old has battled with the incurable muscle-weakening condition since she was just two and is wheel-chair bound. https://www.kentonline.co.uk/