Podcasts about Duchenne

A top official at the Food and Drug Administration steps down after the agency changes course on a treatment for Duchenne muscular dystrophy. What does this episode say about the Trump Administration's approach toward drug development and innovation? Plus, Robert F. Kennedy Jr. says he plans to overhaul the National Vaccine Injury Compensation Program. Learn more about your ad choices. Visit megaphone.fm/adchoices

The morning after the FDA's vaccine regulator Dr. Vinay Prasad announced his resignation, FDA Commissioner Dr. Marty Makary shares the agency's position on the measles vaccine, Sarepta's Duchenne therapy, and the addictive kratom-derived compound OH-7. Booking Holdings CEO Glenn Fogel discusses the impact of geopolitics on travel to the U.S. While Canadians and Europeans are still traveling, the operator of Agoda, Priceline, and Kayak says they're going to Mexico and Asia, instead of the U.S. Plus, Wall Street remembers the lives lost in Monday's shooting, the first tsunami waves from Russia's 8.8 earthquake have hit Hawaii's shores, and CNBC's Eamon Javers reports on his conversation with Treasury Secretary Scott Bessent about trade talks with China. Eamon Javers - 07:24Dr. Marty Makary - 18:51Glenn Fogel - 36:48 In this episode:Eamon Javers, @EamonJaversJoe Kernen, @JoeSquawk Becky Quick, @BeckyQuickAndrew Ross Sorkin, @andrewrsorkinKatie Kramer, @Kramer_Katie

The Sarepta saga continued into another week as the FDA recommended that the voluntary hold on the company's Duchenne muscular dystrophy gene therapy be lifted for ambulatory patients, after determining that the death of an 8-year-old Brazilian Duchenne patient who had received Elevidys' was not caused by the drug.  Sarepta's stock has swung wildly and its transparency questioned after it elected not to reveal the death of a third patient—a participant in a trial of a gene therapy for limb girdle muscular dystrophy—during a business update last week.    Speaking of entities—or individuals—who have trouble staying out of the news, Health Secretary Robert F. Kennedy Jr. plans to dissolve the U.S. Preventive Services Task Force because it is “too woke.” Also on Monday, Kennedy addressed what he called the “broken” vaccine injury compensation program. Without offering details, he vowed to “fix” the U.S.'s VICP and return it to its “original Congressional intent.”   On the business side of the biopharma house, Q2 earnings are in full swing, with AstraZeneca announcing estimate-beating numbers and CEO Pascal Soriot saying the world “needs to share” in global pharma R&D, while Merck cut $3 billion to support an aggressive launch schedule. Meanwhile, a week ahead of its own earnings report, Novo Nordisk named a new CEO and lowered its 2025 sales guidance for the second time this year.   In clinical development, the Alzheimer's Association Annual Conference is underway in Toronto, with Roche's trontinemab the standout so far. In a Phase Ib/IIa trial, the next-gen anti-amyloid antibody rapidly cleared amyloid from the brains of patients with Alzheimer's disease after just seven months—besting the 18-month timeframe for Biogen and Eisai's Leqembi and Eli Lilly's Kisunla. While Leqembi and Kisunla have shown some progress is slowing down the progression of Alzheimer's, their effect size is modest and they don't work for all patients—leaving plenty of room for symptomatic treatments, such as those being developed by Bristol Myers Squibb and Acadia Pharmaceuticals. The space is gearing up for several readouts, for both symptomatic and disease-modifying therapies alike.   And in BioPharm Executive this week, we dig into the top VC rounds so far this year and highlight a few scrappy biotechs walking the solo road.  

Sarepta Therapeutics (SRPT) jumped on Tuesday's session after the FDA lifted a voluntary pause on the company's gene therapy treatment for patients with Duchenne muscular dystrophy. The drug was pulled earlier this year to determine if it was tied to a patient's death. George Tsilis talks about the possibility of this being an "inflection bottom" for the stock, though analysts remain divided on whether that's actually the case.======== Schwab Network ========Empowering every investor and trader, every market day.Options involve risks and are not suitable for all investors. Before trading, read the Options Disclosure Document. http://bit.ly/2v9tH6DSubscribe to the Market Minute newsletter - https://schwabnetwork.com/subscribeDownload the iOS app - https://apps.apple.com/us/app/schwab-network/id1460719185Download the Amazon Fire Tv App - https://www.amazon.com/TD-Ameritrade-Network/dp/B07KRD76C7Watch on Sling - https://watch.sling.com/1/asset/191928615bd8d47686f94682aefaa007/watchWatch on Vizio - https://www.vizio.com/en/watchfreeplus-exploreWatch on DistroTV - https://www.distro.tv/live/schwab-network/Follow us on X – https://twitter.com/schwabnetworkFollow us on Facebook – https://www.facebook.com/schwabnetworkFollow us on LinkedIn - https://www.linkedin.com/company/schwab-network/About Schwab Network - https://schwabnetwork.com/about

Good morning from Pharma and Biotech Daily: the podcast that gives you only what's important to hear in Pharma and Biotech world. The European Medicines Agency's CHMP did not recommend approving Elevidys for ambulatory patients with Duchenne muscular dystrophy, dealing a blow to Sarepta. FDA is rumored to request new data for Elevidys, leading to uncertainty as FDA considers a new study for the drug. In other news, Eli Lilly commits $856 million to Gate Bioscience for a new class of medicines, while Rocket trims headcount and pipeline focus. Roche also drops an early obesity asset as layoffs continue in the biopharma industry, with companies like Adicet optimizing their pipelines. Novartis makes a billion-dollar drug discovery deal with Matchpoint, and the FDA opens a pilot run of the commissioner voucher program.Stay tuned for more updates on the latest developments in the pharmaceutical and biotech world.

Il y a un an, Paris vibrait au rythme des Jeux olympiques et paralympiques. Depuis, la flamme s'est éteinte, mais que reste-t-il de cet été hors norme ? Avec une série de reportages, RFI revient pendant deux semaines sur les promesses, les transformations et les traces laissées par les Jeux dans la ville et dans les vies. Le département de la Seine-Saint-Denis commence à profiter des infrastructures construites durant cet événement. L'objectif en effet était de laisser un héritage aux habitants de ce département sous-doté en matière d'équipements sportifs. Des infrastructures emblématiques notamment avec le Centre aquatique olympique à Saint-Denis, qui a accueilli certaines épreuves, et le pôle de référence inclusif et sportif métropolitain (Prisme) à Bobigny, un lieu dédié principalement aux sportifs en situation de handicap. Après le dévoilement des anneaux, le Centre aquatique olympique-Métropole du Grand Paris, version héritage des Jeux, vient d'ouvrir ses portes au grand public. Viviane Gaessler, professeur de natation, encadre les élèves du collège Federico Garcia Lorca de Saint-Denis. « Ce sont des sixièmes, donc une tranche d'âge de 12 à 13 ans. On est dans l'apprentissage », décrit-elle. D'après la dernière enquête « Savoir nager », un enfant sur deux en Seine-Saint-Denis ne sait pas nager quand il arrive en sixième. « On s'était donné comme objectif d'apprendre à nager à la jeunesse de la Seine-Saint-Denis, un territoire dans lequel le taux d'apprentissage de la natation était nettement inférieur à la moyenne nationale. Avec ce centre aquatique et les autres bassins, on contribue à aller de l'avant pour apprendre à nager. On aura peut-être des petits champions dans les années à venir qui auront commencé ici, à la piscine, à Saint-Denis, dans le centre aquatique », se félicite Marie Barsacq, la ministre des Sports. « On a un dojo, une salle d'armes, une salle de danse, une salle de musculation et tout un espace de balnéothérapie. On a quand même 13 000 m2 de terrain de jeu à Bobigny. », énumère une jeune femme, qui visite le pôle de référence inclusif et sportif métropolitain, Prisme. « Aujourd'hui, on en récolte les fruits » À Bobigny, le Prisme, cet imposant bâtiment dans son enveloppe de dentelle blanche, ne passe pas inaperçu. Quatre mois après son ouverture, il accueille la Coupe du monde des clubs de foot fauteuil. « Ce lieu a été vraiment bien pensé pour les personnes en situation de handicap », se réjouit Erwan Conq, touché par la myopathie de Duchenne, capitaine de l'équipe de foot fauteuil de Châtenay-Malabry, qui découvre le lieu. « Ce site fait suite aux Jeux paralympiques, c'est quelque chose d'important. Je pense que cela va laisser une empreinte par rapport à ce qui a eu lieu il y a un an. Aujourd'hui, on en récolte les fruits. Nous qui sommes une discipline peu connue en tout cas, on se sert de ce lieu pour mettre en avant notre sport », estime-t-il. Luc, onze ans, fait ses débuts dans cette discipline. Il est heureux d'assister pour la toute première fois à cette compétition sportive avec sa mère. « On est au Prisme tous les samedis après-midi. On accueille déjà des jeunes en situation de handicap et on commence des initiations au foot fauteuil. J'ai les larmes qui me montent aux yeux de pouvoir assister à ce type de spectacle. Parce que pour moi, c'est vraiment un spectacle », confie-t-elle, émue. Le Prisme et le Centre aquatique olympique donnent une nouvelle image et redynamisent le département de la Seine-Saint-Denis, l'un des plus défavorisés de France métropolitaine. À lire aussiJO de Paris: un an après, le développement de la pratique du sport freiné par les coupes budgétaires

S&P Futures are displaying positive action this morning. Earnings report remain a key focus today as markets prepare for a heavy dose of tech earnings next week. President Trump visited the Fed yesterday in an effort to sway the Fed to lower interest rates. Today the President is headed to Scottland for personal business-related activities. Late yesterday afternoon, the Trump administration gave approval for CVX to resume oil production in Venezuela. The FCC approved the PARA merger with Skydance. SRPT is falling on concerns related to its Duchenne muscular dystrophy treatment. Next week is one of the busiest weeks of the year for markets. Highlights include a Fed meeting, US / China trade talks, key economic data points including GDP, PCE & Employment data, earnings from META, MSFT & AAPL, and expectations of trade deal announcements. This morning's key economic data point will be the report on Durable Goods Orders. On the earnings front, BAH, BYD, DECK, EW and MHK are higher after their releases. INTC, and LEA are moving lower.

Sarepta has temporarily paused shipments of Elevidys, its FDA-approved treatment for Duchenne muscular dystrophy. In this episode of GEN's Touching Base, we discuss the company's response to the tragedies associated with its DMD therapy as well as with a new therapy for limb-girdle muscular dystrophy. Also in this episode, big updates from AstraZeneca including a $50 billion investment in U.S. manufacturing and R&D, a heartwarming story about preventing mitochondrial disease involving eight babies from the U.K., and from the lab of Nobel Prize winner David Baker, PhD, AI that designs drugs for previously “undruggable” proteins.Join GEN editors Corinna Singleman, PhD, Alex Philippidis, Fay Lin, PhD, and Uduak Thomas for a discussion of the latest biotech and biopharma news.Listed below are links to the GEN stories referenced in this episode of Touching Base:About Face: Sarepta to Pause Elevidys Shipments TemporarilyBy Alex Philippidis, GEN Edge, July 21, 2025StockWatch: Sarepta Shares Nosedive after LGMD Gene Therapy Patient DiesBy Alex Philippidis, GEN Edge, July 20, 2025Sarepta Axes 500, 36% of Workforce, in Restructuring after DMD Patient DeathsBy Alex Philippidis, GEN Edge, July 16, 2025AstraZeneca Commits $50B More to U.S. Manufacturing, R&D ProjectsBy Alex Philippidis, GEN Edge, July 22, 2025AstraZeneca's New $300M Plant Provides Control of Cell Therapy ProductionBy Gareth John Macdonald, GEN, May 14, 2025 Beyond Baby KJ: Next Steps in Manufacturing Genome Editing CuresGEN Live, July 30, 2025Mitochondrial Disease Milestone: Eight Babies Born Free of Disease via Pronuclear TransferBy Julianna LeMieux, PhD GEN, July 16, 2025Undruggable No More: AI Hits Disordered Proteins, Unlocks Therapy TargetsBy Fay Lin, PhD GEN, July 18, 2025 Hosted on Acast. See acast.com/privacy for more information.

Howie and Harlan are joined by public health communicator Katelyn Jetelina for updates on COVID-19 and other issues, and to discuss how her emails to students and colleagues in the early days of the pandemic turned into a platform with global reach. Harlan looks at how AI is being used on both sides of the battle between providers and insurers over claims; Howie reports on a setback with a promising gene therapy for Duchenne muscular dystrophy. Links: Insurance Claims, AI, and Wearables “Elevance Health Reports Second Quarter 2025 Results” “Elevance lowers profit outlook, warns things will get worse for health insurers ““Blue KC wrongfully denied medical diagnoses, hospital alleges in AI-driven claims lawsuit” “Oscar Health cuts full-year guidance, estimates 2025 loss as ACA marketplace stumbles” Whoop “WHOOP Delivers Innovative Blood Pressure Insights for a Deeper Look at Your Well-Being” “Introducing Heart Screener: A smarter way to stay connected to your heart health” “Whoop says FDA is ‘overstepping its authority' with warning about blood pressure feature” FDA: WARNING LETTER, WHOOP, Inc. “RFK Jr. wants everyone to use wearables. What are the benefits, risks?” “Apple to Sell Watches With Blood-Oxygen Feature Disabled After Legal Setback” Your Local Epidemiologist Your Local Epidemiologist “Poll: Trust in Public Health Agencies and Vaccines Falls Amid Republican Skepticism” “Popular epidemiologist lays out future path of public health communication” Yale School of Public Health: PopHIVE Katelyn Jetelina: “NIH: The quiet engine of science is being dismantled” Katelyn Jetelina: “Covid-19 in pockets, sugar cane isn't better, ticks march on, rescission cuts (vs. everything else), bright spots, and more” Mayo Clinic: Norovirus infection Katelyn Jetelina: “The show must go on...” Katelyn Jetelina: “Harassment against scientists is out of control” Katelyn Jetelina: “Medicaid cuts: The how and why” CDC: H5 Bird Flu: Current Situatio CDC: Current Epidemic Trends (Based on Rt) for States” CDC: Measles Cases and Outbreaks Treating Duchenne Muscular Dystrophy Cleveland Clinic: Duchenne Muscular Dystrophy (DMD) “FDA approves Sarepta's Duchenne gene therapy for nearly all patients” “AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial” “Patient dies in Sarepta gene therapy trial, adding to safety concerns” “FDA Requests Sarepta Therapeutics Suspend Distribution of Elevidys and Places Clinical Trials on Hold for Multiple Gene Therapy Products Following 3 Deaths” “In surprise reversal, Sarepta Therapeutics says it will pause shipments of Duchenne gene therapy” “Sarepta to lay off about 500 employees after Duchenne gene therapy setbacks” Learn more about the MBA for Executives program at Yale SOM. Email Howie and Harlan comments or questions.

Howie and Harlan are joined by public health communicator Katelyn Jetelina for updates on COVID-19 and other issues, and to discuss how her emails to students and colleagues in the early days of the pandemic turned into a platform with global reach. Harlan looks at how AI is being used on both sides of the battle between providers and insurers over claims; Howie reports on a setback with a promising gene therapy for Duchenne muscular dystrophy. Links: Insurance Claims, AI, and Wearables “Elevance Health Reports Second Quarter 2025 Results” “Elevance lowers profit outlook, warns things will get worse for health insurers ““Blue KC wrongfully denied medical diagnoses, hospital alleges in AI-driven claims lawsuit” “Oscar Health cuts full-year guidance, estimates 2025 loss as ACA marketplace stumbles” Whoop “WHOOP Delivers Innovative Blood Pressure Insights for a Deeper Look at Your Well-Being” “Introducing Heart Screener: A smarter way to stay connected to your heart health” “Whoop says FDA is ‘overstepping its authority' with warning about blood pressure feature” FDA: WARNING LETTER, WHOOP, Inc. “RFK Jr. wants everyone to use wearables. What are the benefits, risks?” “Apple to Sell Watches With Blood-Oxygen Feature Disabled After Legal Setback” Your Local Epidemiologist Your Local Epidemiologist “Poll: Trust in Public Health Agencies and Vaccines Falls Amid Republican Skepticism” “Popular epidemiologist lays out future path of public health communication” Yale School of Public Health: PopHIVE Katelyn Jetelina: “NIH: The quiet engine of science is being dismantled” Katelyn Jetelina: “Covid-19 in pockets, sugar cane isn't better, ticks march on, rescission cuts (vs. everything else), bright spots, and more” Mayo Clinic: Norovirus infection Katelyn Jetelina: “The show must go on...” Katelyn Jetelina: “Harassment against scientists is out of control” Katelyn Jetelina: “Medicaid cuts: The how and why” CDC: H5 Bird Flu: Current Situatio CDC: Current Epidemic Trends (Based on Rt) for States” CDC: Measles Cases and Outbreaks Treating Duchenne Muscular Dystrophy Cleveland Clinic: Duchenne Muscular Dystrophy (DMD) “FDA approves Sarepta's Duchenne gene therapy for nearly all patients” “AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial” “Patient dies in Sarepta gene therapy trial, adding to safety concerns” “FDA Requests Sarepta Therapeutics Suspend Distribution of Elevidys and Places Clinical Trials on Hold for Multiple Gene Therapy Products Following 3 Deaths” “In surprise reversal, Sarepta Therapeutics says it will pause shipments of Duchenne gene therapy” “Sarepta to lay off about 500 employees after Duchenne gene therapy setbacks” Learn more about the MBA for Executives program at Yale SOM. Email Howie and Harlan comments or questions.

Just a few weeks ago, it seemed like Sarepta had weathered a spate of bad news, after two patients died from liver injuries from its Duchenne muscular dystrophy gene therapy Elevidys. Then came news of a third patient death. Last Wednesday, the company announced a major restructuring and 500-person layoff.  Then, in just a few days time, Sarepta Therapeutics went from enjoying a notable stock bump in response to that corporate update to its lowest price in nearly 10 years as it halts shipments of Elevidys. In addition to requesting the shipment hold, the FDA revoked the company's technology platform designation and paused all clinical trials for Sarepta's limb-girdle muscular dystrophy (LGMD) gene therapy. The turmoil was set in motion by media reports that a patient who received the LGMD treatment had died—a fact the company chose not to disclose during an investor call. In other news, the FDA's Center for Drug Evaluation and Research gets a new director in biotech veteran George Tidmarsh, also an adjunct professor of pediatrics and neonatology at Stanford University's School of Medicine. Tidmarsh enters the agency at a time of mass layoffs as well as voluntary departures. Meanwhile, Replimmune and Roche suffer FDA rejections as therapies from Otsuka/Lundbeck and GSK fail to earn adcomm support, as the bar for acceptable controls and demonstrations of efficacy continue to change under FDA commissioner Marty Makary and CBER director Vinay Prasad.  Finally, Big Pharmas continue to pump billions into U.S. manufacturing, with Biogen and AstraZeneca joining the list of companies to have made such pledges, pledging $2 billion and $50 billion, respectively. These latest announcements come as President Donald Trump reiterates that pharma-specific tariffs of up to 200% could come as soon as Aug. 1. 

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma and Biotech world. Sarepta Therapeutics experienced a significant drop in shares as the FDA considers requesting a halt to shipments of the Duchenne muscular dystrophy therapy Elevidys. This decision comes after a third patient death linked to the underlying platform. The company's stock plummeted by 37% on Friday afternoon as reports of the potential shipment stop circulated in the media. This news adds to the already turbulent week for Sarepta, which has been facing challenges in its gene therapy and siRNA biotech developments. ## Novartis announced positive results from a phase 3 trial of its drug Cosentyx in treating axial spondyloarthritis. The study showed that patients treated with Cosentyx had significant improvements compared to those on a placebo. These results further solidify Novartis' position in the market for treatments of autoimmune diseases. The company plans to submit the data to regulatory authorities for potential approval of this indication.Novartis revealed encouraging outcomes from a phase 3 trial of its drug Cosentyx for treating axial spondyloarthritis. The study demonstrated that patients who received Cosentyx experienced notable enhancements compared to those who were given a placebo. These findings strengthen Novartis' standing in the autoimmune disease treatment market. The company intends to present the data to regulatory bodies for potential approval of this indication.## AstraZeneca faced setbacks as it announced delays in delivering its COVID-19 vaccine doses to the EU. The company cited production issues as the cause of the holdup, leading to frustration among European officials. This news comes at a time when vaccine distribution is crucial in combating the ongoing pandemic, highlighting the challenges faced by pharmaceutical companies in meeting global demand for vaccines.AstraZeneca encountered obstacles when it disclosed delays in distributing its COVID-19 vaccine doses to the EU. The company attributed production problems as the reason for the delay, causing frustration among European officials. This development occurs during a critical period in vaccine distribution to combat the current pandemic, underscoring the difficulties pharmaceutical companies encounter in meeting worldwide vaccine demands.## Pfizer and BioNTech announced plans to test a third dose of their COVID-19 vaccine to assess its effectiveness against new variants of the virus. The study will involve participants who have already received two doses of the vaccine and will evaluate the immune response generated by a booster shot. This initiative reflects ongoing efforts by pharmaceutical companies to adapt their vaccines to combat emerging strains of the virus.Pfizer and BioNTech unveiled intentions to examine a third dose of their COVID-19 vaccine to determine its efficacy against new virus variants. The research will include individuals who have already been administered two doses of the vaccine and will assess the immune response produced by an additional shot. This undertaking demonstrates continuous endeavors by pharmaceutical firms to modify their vaccines in response to evolving virus mutations.

Good morning from Pharma and Biotech Daily: the podcast that gives you only what's important to hear in the Pharma and Biotech world. Sarepta Therapeutics has recently experienced an 18% increase in its stock value following a significant business overhaul, which included staff layoffs and pipeline shifts. Analysts are cautiously optimistic about the company's future. At the same time, patients are advocating for access to Brainstorm Cell Therapeutics' ALS drug, Nurown, after promising results from an expanded access program. In other news, Novartis is in the process of reshoring its drug manufacturing operations in the US, a move that may take several years to complete. Additionally, a notable number of employees have departed from the FDA's Center for Drug Evaluation and Research amidst an overhaul by the Department of Health and Human Services. These developments underscore the continuous changes and challenges within the pharmaceutical industry. Sarepta Therapeutics recently announced a strategic overhaul, which involved cutting 500 staff members and shifting focus to sirna platform assets. This decision came after two patients passed away following treatment with its Duchenne muscular dystrophy gene therapy, Elevidys. The company has also added a black box warning for acute liver injury and failure to Elevidys as it pivots away from gene therapy programs.

This episode is the third in a series hosted by Molecular Therapy Editor-in-Chief Joseph Glorioso, PhD, that will cover comprehensive reviews of critical developments in the field of gene and cell therapy over the past 25 years. In this episode, Dr. Glorioso will discuss the reviews, “Current trends in gene therapy to treat inherited disorders of the brain,” with author Beverly Davidson, PhD, The Children’s Hospital of Philadelphia, and “The road toward AAV-mediated gene therapy of Duchenne muscular dystrophy,” with author Jeff Chamberlain, PhD, University of Washington School of Medicine. If you enjoy this deep dive into research that is critical to the field, check out two more ASGCT events happening this fall: Advancing Cell and Gene Therapies for Cancer and Breakthroughs in Targeted In Vivo Gene Editing. During these events – in October and November, respectively – you’ll be able to hear directly from researchers about their own work related to these topics, or you can submit your own abstract for possible presentation. We hope to see you there! Music: 'Electric Dreams' by Scott Buckley - released under CC-BY 4.0. www.scottbuckley.com.au Show your support for ASGCT!: https://asgct.org/membership/donateSee omnystudio.com/listener for privacy information.

Up to 3,500 FDA staffers received their final walking papers Monday after the U.S. Supreme Court found last week that the government is “likely to succeed” in arguing that its overhaul of HHS is “lawful.” Meanwhile, FDA Commissioner Marty Makary floated policy changes for the agency, including a proposal to lower prescription drug user fees for the next iteration of the program, and one to offer speedier reviews to companies willing to lower the cost of their drugs.  Last week, the regulator opened its cache of complete response letters (CRLs), offering transparency into the rationale behind more than 200 recent rejections for ultimately approved therapies, including those for Eli Lilly's Alzheimer's drug Kisunla and Sarepta's Duchenne muscular dystrophy (DMD) treatment Vyondys 53. The FDA did not, however, release the CRLs for two new rejections: those of therapies from Ultragenyx and Capricor Therapeutics in Sanfilippo syndrome type A and cardiomyopathy associated with DMD, respectively. It was an especially rough week for Ultragenyx, which also, along with partner Mereo BioPharma, released seemingly negative Phase II/III data for their osteogenesis imperfecta therapy.  On a more positive note, two bustling therapeutic spaces continue to see positive data. In obesity, Hengrui Pharma's Kailera Therapeutics–partnered dual GLP-1/GIP receptor agonist elicited 17.7% average weight loss in a pivotal Chinese trial. And the psychedelic therapeutics space is again generating excitement with two recent positive readouts in treatment-resistant depression. BioSpace took a deep dive into the market reaction to these readouts for Compass Pathways and Beckley Psytech and atai Life Sciences, and what exactly investors are looking for in a successful psychedelic therapy.  Finally, we examine the progress of AI biotech unicorns and kick off our series on women in biopharma with profiles on Mayo Venture Partner Audrey Greenberg and the all-female CEO/R&D tandem at Acadia Pharmaceuticals.  

When Una Ennis' 7 year old son Archie was diagnosed with Duchenne muscular dystrophy, a condition that causes his muscles to weaken, her plea for help was shared all across social media. She told us how she first began to notice that Archie was struggling with basic things like jumping and climbing the stairs and how their family has coped since receiving the news of his diagnosis. Incredibly, Una and all of Archie's Army have now raised over 1 million euro for advanced treatments that can help to extend his life expectancy and keep him mobile - But they're still a long way from the €3.5 million they need.If you can, please consider helping Una by donating here: https://www.gofundme.com/f/4s5t9y-please-help-our-boy This episode was sponsored by Rightstyle Furniture - RIGHT PRICE, RIGHT STYLE, RIGHT NOW. Visit rightstyle.ie

Hoy preguntas y respuestas. Hola, hola, bienvenidos a El Café Positivo, tu espacio para empezar el día con neuroemoción y buena energía. Hoy vamos a hablar de una sonrisa… pero no cualquier sonrisa: la sonrisa Duchenne.Esa que aparece cuando algo nos emociona de verdad. Cuando ves a tu hijo reír dormido. Cuando alguien te dice ‘lo logré, gracias a ti'. Cuando no hay máscaras, solo verdad emocional.¿Sabías que no todas las sonrisas son iguales? La ciencia lo confirma: tu cara puede sonreír… sin que tú estés feliz.Pero hay una sonrisa que es inconfundible. No se puede fingir. Se llama sonrisa Duchenne, y ocurre cuando se activan dos músculos al mismo tiempo: 1. El cigomático mayor, que sube las comisuras de los labios. 2. Y el orbicular del ojo, que genera esas arruguitas en las esquinas de los ojos… las famosas ‘patas de gallo' que tanto queremos borrar con cremas, pero que en realidad son marcas de momentos reales de felicidad. Esta sonrisa es una metaemoción. Un indicador de que estamos haciendo bien las cosas. Que estamos conectando, que dejamos una huella. Cuando alguien te sonríe con una Duchenne, su cerebro ha liberado dopamina, oxitocina, endorfinas. Es química pura de bienestar. Y aquí va la pregunta poderosa del día:¿A quién le generaste una sonrisa Duchenne esta semana? ¿Y quién te la provocó a ti?La felicidad no siempre es una carcajada. A veces, es un microsegundo de verdad emocional que se nota en la mirada.Hoy, te invito a mirar con más atención… y a regalar sonrisas que nazcan desde adentro.

We catch up with Professor Thorsten Langer!Transition of youth with Duchenne muscular dystrophy: What are the key challenges in transitioning youth with Duchenne muscular dystrophy to adult care, and how can we address them?Join us for another brilliant conversation with a brilliant researcher - live from the EACD / IAACD Conference 2025, in Heidelberg Germany!

En este episodio de Más Que Raras, tenemos el privilegio de conversar con el Dr. Carlos Bacino, un referente internacional en genética molecular y humana. Con una sólida formación académica y décadas de experiencia, el Dr. Bacino ha dedicado su carrera al diagnóstico y tratamiento de enfermedades genéticas raras. Actualmente dirige la Clínica del Síndrome de Angelman y el laboratorio de citogenética en Baylor Genetics, desde donde lidera esfuerzos pioneros en investigación clínica y atención personalizada. En esta entrevista, nos habla de los avances científicos en su campo, su compromiso con las familias afectadas y la importancia de construir puentes entre la ciencia y la comunidad. Una conversación profunda y esperanzadora que no se pueden perder.   Más información:  El proyecto Texome: https://www.texome.org/ Centro de Enfermedades No Diagnosticadas en Baylor College of Medicine: https://www.bcm.edu/research/research-centers/undiagnosed-diseases-center   Fundación para la terapéutica del síndrome de Angelman (FAST LATAM) https://cureangelman.lat/   En Catalyst Pharmaceuticals, una empresa biofarmacéutica comprometida a mejorar las vidas de los pacientes con enfermedades poco frecuentes, entendemos los desafíos únicos de afecciones como la Distrofia Muscular de Duchenne y el Síndrome Miasténico de Lambert-Eaton (LEMS). Guiados por nuestro compromiso profundo hacia el cuidado del paciente, priorizamos la accesibilidad, al brindar un paquete integral de servicios de apoyo diseñados para acceso ininterrumpido y asistencia continua. Reconocemos que cada proceso es personal y puede ser difícil. Por eso es que nos dedicamos a brindar mucho más que tratamiento: estamos a su lado para apoyarlo a cada paso del camino.  Para obtener más información, visite catalystpharma.com  Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter    

Send us a textMeet Oakley Olson, a rising star in the trail running world who's breaking barriers between collegiate track and mountain racing. Fresh from her NCAA steeplechase season and now a Trail Team Elite selection for 2025, Oakley joins us just days before tackling both the Vertical Kilometer and 23K races at Broken Arrow Skyrace.Oakley's story is remarkable – from showing up at her first trail camp in worn-out road shoes to finishing top-10 at the US Mountain Running Championships within months. Speaking from the Trail Team camp in Grand Lake, Colorado, she shares how this supportive community transformed her understanding of the sport. "I had no idea what Broken Arrow was, what a running vest was, or what trail running shoes were," she laughs, describing her bloody-legged introduction to mountain terrain just a year ago.When the conversation turns to race strategy, Oakley reveals a mature approach beyond her experience level. Drawing from her NCAA racing background, she plans to start conservatively at Broken Arrow rather than getting caught in the frantic early pace. "I'd rather be the hunter than the hunted," she explains, a strategy that served her well at Snowbird last year against seasoned professionals.Most powerful is Oakley's motivation – she runs for her two younger brothers who have Duchenne muscular dystrophy. Wearing a lime green ribbon on her shoes, she pushes through difficult moments by remembering their daily struggles. "When it got so hard, the only thing that got me through was thinking about my two younger brothers and how that's how they feel every day walking up a staircase," she shares with heartfelt emotion. Her family will be waiting at the aid station atop the Vertical Kilometer, making a potential Team USA qualification even more meaningful.Listen now to this inspiring conversation with an athlete whose genuine passion, strategic intelligence, and heartfelt motivation are quickly making her one of trail running's most compelling figures. The future of American mountain running looks brighter with Oakley Olsen on the scene.Follow James on IG - @jameslaurielloFollow the Steep Stuff Podcast on IG - @steepstuff_podUse code steepstuffpod for 25% off your cart at UltimateDirection.com! 

This week, BioSpace is at 50% power as Heather McKenzie and Jef Akst are off attending this year's BIO Conference in Boston. The half-team discusses this week's biggest news: the death of another patient who took Sarepta's Duchenne muscular dystrophy gene therapy Elevidys. The patient was a non-ambulatory teenager who experienced acute liver failure after receiving the gene therapy, which is the same cause of death for an Elevidys patient reported in March. Sarepta announced that it was halting treatments to non-ambulatory patients and on a media call discussed new steps in its therapeutic protocol for preventing further liver injuries.  Elsewhere, mergers and acquisitions are surging across biopharma. Eli Lilly picked up the gene editing company Verve Therapeutics for $1.3 billion, which helped bolster the gene editing space —particularly after Sarepta's report of the death. Supernus bought Sage Therapeutics for $795 million, five months after Sage rejected a smaller offer from Biogen.  BioNTech also got in on the dealmaking, buying its German rival—scientifically and in the courtroom—CureVac for about $1.25 billion. The deal seemed focused mostly on CureVac's early-stage cancer immunotherapy pipeline, but analysts were otherwise left scratching their heads on what BioNTech was getting for its money.  Last week on The Weekly the team discussed the sudden dismissal of the CDC's entire ACIP committee, and this week we have a new slate of members. The eight people replacing the 17 members that were removed last week include allies of HHS Secretary Robert F. Kennedy Jr., many of whom are vaccine skeptics who seem to share his skeptical view of vaccination in general.  

Invitée : Pr Catherine Sarret, neuropédiatre et responsable du site constitutif de Clermont-Ferrand du centre de référence des pathologies neuromusculaires PACA Rhône-Alpes, affilié à la filière Filnemus.  https://www.chu-clermontferrand.fr/liste-services/genetique-medicale    https://www.chu-clermontferrand.fr/maladies-rares/crmr-centre-de-reference-maladies-rares-pathologies-neuromusculaire       1️⃣   Pourquoi participer au projet « Horizon DMD » ? [0'54 – 1'34] ✔️ Réponse à une sollicitation des responsables de la filière et de RARE à l'écoute. ✔️ Intérêt déjà porté aux précédentes éditions du projet (amyotrophie spinale, dystrophie musculaire de Duchenne). ✔️ Opportunité de valoriser les spécificités et expertises propres à chaque centre. 2️⃣   Comment la revue Horizon améliore-t-elle la visibilité des actions du centre de référence de Clermont-Ferrand ? [1'35 – 2'17]  ✔️ Valoriser la labellisation récente du centre en tant que « Centre de référence ». ✔️ Mettre en lumière les efforts réalisés pour ce changement de statut. ✔️ Diffuser les actions menées en faveur des patients, des traitements et de la recherche. 3️⃣   Quels aspects de votre collaboration lors de la création de la revue Horizon ont été particulièrement enrichissants ? [2'18 –3'02] ✔️ Mettre en lumière le travail des professionnels paramédicaux. ✔️ Valoriser le rôle essentiel des kinésithérapeutes, ergothérapeutes, psychologues, infirmiers de coordination, etc. ✔️ Donner la parole à ces acteurs clés dans la prise en charge des maladies rares. 4️⃣   Dans quelle mesure d'autres filières de santé ou centres experts pourraient-ils collaborer avec RARE à l'écoute pour développer des revues Horizon et valoriser leurs initiatives ? [3'03– 4'13]  ✔️ Mettre en avant les actions menées au niveau local, souvent méconnues des autres centres. ✔️ Utiliser ce projet comme levier pour valoriser les initiatives spécifiques à leur expertise. ✔️ Contribuer à renforcer la reconnaissance et l'intégration territoriale de chaque centre.   L'équipe : Virginie Druenne – Ambassadrice RARE à l'écoute Cyril Cassard – Journaliste/Animation Hervé Guillot - Production Crédits : Sonacom ******************************************************************* À propos : "RARE à l'écoute" est un podcast dédié à la sensibilisation aux maladies rares et au soutien des personnes touchées par ces affections. Créé par un groupe passionné de professionnels de la santé, le podcast vise à informer les professionnels de santé et fournissant des informations sur les dernières avancées médicales et scientifiques dans le domaine des maladies rares, et inspirer les patients et leurs proches en partageant des histoires de courage et de persévérance. Contenu : 

A DYING MAN JUST WANTS TO TRY I realize that we are ALL dying but my guest today is on a fast track none of us want to be on. Elijah is 23 years old and is fighting for his life. He was only six years old when he was diagnosed with a fatal and incurable disease – Duchenne muscular dystrophy. The disease has robbed Elijah of the ability to walk. He's losing the use of his hands and arms. He likely only has a few years to live. There's a potential genetic treatment for his condition that is sitting on the shelf, all because of government bureaucracy. It could save his life, and others like him. That's why Elijah is advocating for the Right to Try for Individualized Treatments. Elijah he has become a strong advocate for Right to Try for Individualized Treatments (which we also call Right to Try 2.0). There is a treatment that could help him, but government red tape is preventing him from accessing it. So he has made it his mission to advocate for treatments like these/He also started a nonprofit, wrote a book, consults for biotech companies, and is working on a screenplay about his story. Read this story about his journey here. He joins me at 12:30 to talk about it. Find out more about Right to Try by clicking here.

In this powerful episode, we explore the emotional and often unseen journey of a mother's love. Sheryl Marazzo is a force of nature—fierce, steady, and filled with a bright hope. Living a life woven with heartbreak and tragedy, her resilience and sheer will drove her to find happiness and peace right alongside the unimaginable. As a mom to three children—one living with a rare disease, one a rare disease carrier, and one battling addiction—she brings honesty, humor, and deep heart to a conversation about survival, sacrifice, and the unexpected ways we figure out how to keep going. A long-time advocate and nonprofit founder, Sheryl's story is framed by Duchenne muscular dystrophy, but beyond labels and medical conditions, hers is simply a story about being fully human.

In this episode, recorded on April 4th in the stunning Seychelles, I sit down with Stéphane Duchenne, General Manager of Constance Ephelia Resort, and Markus Ultsch-Unrath, the resort's Sustainability, Health, and Safety Manager. In this chat, we explore their recent milestone achievement — becoming the first recipient of the Platinum Award at the Sustainable Seychelles Recognition & Certification Ceremony. Our wide-ranging conversation reveals how sustainability at Constance Ephelia goes far beyond carbon offsets and recycling bins. As Stéphane eloquently puts it, it's a philosophy rooted in the land, sung by the local community, and seen in the eyes of children playing among the mangroves. as Markus says: “We're not just here to protect nature — we're here to pass it on.”

CME credits: 1.00 Valid until: 09-05-2026 Claim your CME credit at https://reachmd.com/programs/cme/new-frontiers-in-the-treatment-of-dmd-across-the-age-spectrum/32740/ Explore the latest treatment options, age-specific management strategies, and clinical trial data for patients with Duchenne muscular dystrophy (DMD). Through expert-led discussions and real-world patient cases, you'll gain practical insights to help you confidently navigate today's ever-evolving treatment landscape and deliver personalized, informed care.=

About Andrea Andrea is a follower of Jesus, wife of Shawn, and mom of two boys; Sam (who has Duchenne Muscular Dystrophy) and Zach. As a younger adult, she obtained her Bachelor of Science in Civil Engineering, but left the workforce to homeschool her kids 15 years ago. Her family plays a small part in the special needs ministry 'Joni and Friends' via volunteering for their Wheels for the World program and enjoying their annual family camps. She's blessed to be mentor and friend to newer homeschool moms and to younger moms who are navigating the joys and the hard messiness of this special needs life. About the Episode In this conversation, Andrea Duerkop shares her journey as a special needs parent, discussing the challenges and triumphs of raising her son Sam, who has Duchenne muscular dystrophy. She reflects on the emotional journey of receiving the diagnosis, the importance of community support, and the lessons learned through faith and resilience. Andrea emphasizes the significance of sibling dynamics, the feeling of being loved and chosen, and the impact of giving back through service. The conversation highlights the importance of finding joy amidst challenges and the power of community in navigating the complexities of special needs parenting. Related Links By the Brook            

Após descobrir por acaso fotos de Josias na câmera da tia, Natalia se apaixonou por ele, mesmo sabendo que ele era noivo. Quando ele terminou o noivado, eles se aproximaram, casaram e tiveram duas filhas, apesar das dificuldades causadas pela trombofilia. Anos depois, Natalia engravidou naturalmente de Artur, um menino, o que a deixou aterrorizada por causa da distrofia muscular de Duchenne, doença genética que matou seu irmão. Mesmo com exames negativos, o diagnóstico de Artur se confirmou aos 5 anos. Existe um remédio que trava o avanço da doença, mas custa 17 milhões de reais e, apesar da liminar judicial que garantiu o direito ao tratamento, ele ainda não foi entregue. A família vive em isolamento rigoroso, separada das filhas, esperando que a Justiça seja cumprida para que Artur tenha a chance de viver.❤️ Se você quer contar sua história, é só entrar em contato através do nosso e-mail: quemamanaoesquece@band.com.br ou pelas nossas redes sociais. Você é fã da Band FM? Então, inscreva-se no canal e ative o sininho para não perder nenhum vídeo da rádio que é líder no Ibope em São Paulo há mais de 9 anos.

Drug development activities focused on the rare, neuromuscular condition Duchenne muscular dystrophy have translated into functional improvements and an extension of life expectancy. Regenxbio is among several companies pursuing a gene therapy to treat Duchenne. Regenxbio believes both its microdystrophin—a truncated form of the dystrophin gene­ small enough to fit in a vector­—and the vector it is using, give it a competitive advantage over other efforts. We spoke Curran Simpson, CEO of Regenxbio, about the company's platform technology, the advantages he sees with its experimental DMD gene therapy, and how a partnership announced at the start of 2025 focused on a pair of other gene therapies provided a welcome alternative to tapping the capital markets.

In this powerful and deeply personal episode of Making Our Way, we sit down with Vivian, a single mother caring for her son who is living with Duchenne muscular dystrophy. She opens up about the emotional aspect of caregiving—the quiet moments of exhaustion, the light moments of joy, and how she digs deep to draw on strength—even when she doesn't have much left to give. This conversation isn't just about Duchenne. It's about love and a tender connection between a mom and her son. It's about every parent who's ever felt overwhelmed. Every caregiver who's ever hidden their pain. And every person who's ever had to keep it all together, even when they're falling apart.

Hoy nos enfocaremos en experimentar una emoción de bienestar, más que en la simple observación física, como el roce del aire al respirar o la relajación de un músculo. Exploraremos la sensación de bienestar que surge con la sonrisa interior (sonrisa de Duchenne). Al cultivarla con regularidad, fortaleceremos esta experiencia y facilitaremos que el cerebro la integre de forma natural. Con la práctica constante, esta sensación de bienestar puede extenderse incluso después de la meditación. La intensidad y duración dependerán del tiempo y la constancia dedicados. Al principio, el proceso puede sentirse algo mecánico, pero con el tiempo se volverá más natural y fluido.

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma e Biotech world. Pharma industry tensions rise as Trump tariffs miss sector for now. FDA's interim CBER head appointed after key resignation. Xaira Therapeutics hires top AI academic. Novavax's COVID-19 shot review deadline missed by FDA. Trilink offers guide RNA for CRISPR workflow. Biotech sector sees investment surge. Beigene scraps candidate, Sarepta's gene therapy on hold in Europe. Biopharma professionals work long hours.In other news, there are safety concerns in Duchenne treatment. Democrats challenge Trump health cuts. And there are job opportunities in the biopharma industry.

Dr. Scott Younger is the Director of Disease Gene Engineering within the Genomic Medicine Center at Children's Mercy Hospital. His research focuses on producing patient-derived cellular models to develop functional precision medicine. He talks about using personalized antisense oligonucleotides to reverse disease phenotypes in organoid models of Duchenne muscular dystrophy. He also discusses his lab's personal connections to the rare disease community and the opportunities for collaborations with clinicians at Children's Mercy.

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma e Biotech world.Sanofi and Alnylam have received FDA approval for the first RNAi treatment for hemophilia, with the drug, Qfitlia, indicated for both hemophilia A and B. This approval is significant as it can be given regardless of the presence of neutralizing antibodies against clotting factors VIII or IX. However, the sudden departure of FDA director Peter Marks has caused uncertainty in the biopharma industry. In other news, Vertex has cut a diabetes asset but analysts remain optimistic about their phase III option. Lilly's RNA silencer has shown promising results in lowering a key cardiovascular biomarker. Trilink is offering custom guide RNAs for CRISPR workflow to accelerate therapy discoveries. Despite market challenges, the cell and gene therapy sector has seen a 30% investment surge. Companies like Amgen, Aldeyra, and Argenx are among those with upcoming FDA actions. Arbutus has announced layoffs, while big pharmas are pushing boundaries in radiopharmaceuticals. Michelle Werner of AltoRNA is focused on making better drugs. Safety questions are looming in Duchenne as Dyne and Wave plan FDA filings. There are job opportunities available in data management and program leadership within the biopharma industry.Moving on to other news, several big pharmaceutical companies such as Novartis, Bayer, AstraZeneca, Bristol Myers Squibb, and Eli Lilly are competing in the radiopharmaceuticals market, which is projected to be worth over $13 billion by 2033. The FDA is expected to announce decisions on therapies for dry eye disease soon. Michelle Werner, CEO of AllTrna, is focused on developing trna-based treatments for various diseases.Safety concerns are emerging in the Duchenne muscular dystrophy space as companies like Dyne and Wave plan FDA filings. The EU rejected Lilly's Alzheimer's drug Kisunla, Biontech's bispecific showed promise in treating SCLC patients, and Wave's duchenne exon-skipper reversed muscle damage in a mid-stage trial. Job opportunities within the biopharma industry were also highlighted for those interested.Thank you for tuning in to Pharma and Biotech daily - keeping you updated on all the latest news in the world of pharmaceuticals and biotechnology.

President Donald Trump doubled down on tariff threats targeting pharma, saying additional levies on pharmaceuticals will come “at some point,” per CNBC. Meanwhile, Johnson & Johnson became the latest big pharma to respond to Trump's warning of potential tariffs if companies don't reshore their manufacturing, announcing a massive $55 billion U.S. manufacturing and R&D investment. Not all companies are on board, however: AstraZeneca is looking eastward, pumping $2.5 billion into a new research facility in Beijing.    Also on the policy front, Trump nominated acting CDC director Susan Monarez for the top job after pulling his first nominee, Dave Weldon, days before his senate hearing was expected to begin. If confirmed, Monarez would be the first CDC director since 1953 to not have a medical degree; she holds a Ph.D. in microbiology and immunology from the University of Wisconsin.   In weight loss news, Novo Nordisk is paying China-based United Laboratories $200 million upfront to license a triple agonist of the GLP-1, GIP and glucagon receptors that could one day compete with Eli Lilly's retatrutide. And BioSpace examines the next great challenge for GLP-1s: oral formulation manufacturing.    Two more therapeutic spaces in focus last week are Duchenne muscular dystrophy and spinal muscular atrophy, where companies including Dyne Therapeutics, REGENXBIO and Novartis presented new data on their respective candidates. And the Duchenne community continued to react to news of the death of a patient taking Sarepta's approved gene therapy Elevidys.  In cardiovascular news, Alnylam won a much-anticipated approval for Amvuttra as the first RNAi silencer for transthyretin amyloid cardiomyopathy, setting up a three-way race with Pfizer's tafamidis—marketed as Vyndaqel and Vyndama—and BridgeBio's Attruby. Next up is Milestone Therapeutics' CARDAMYST in paroxysmal supraventricular tachycardia, which has a PDUFA date of March 27.   Finally, the saga of Cassava Sciences' Alzheimer's hopeful simufilam is over, as the company announced it has ended development of the controversial candidate.   

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma e Biotech world. Sanofi has committed up to $1.9 billion to acquire Dren Bio's bispecific antibody for autoimmune disease, adding to its investments in the immunology portfolio. The deal comes after the tragic death of a patient who had taken the gene therapy Elevydys, prompting the Duchenne patient community to vow to push on. Paratek Pharmaceuticals has acquired Optinose for up to $330 million, while Senate Democrats demand the return of fired CDC staff. Sino Biological has developed recombinant antigens for the 2025-2026 influenza vaccine strains, and Purdue has filed for bankruptcy to support a $7.4 billion opioid settlement. Doctors continue to rally behind vaccines amidst doubts and misinformation, and Novartis' intrathecal Zolgensma has shown effectiveness in older children. TC Biopharm and Cargo have enacted steep workforce reductions. Pharmaceutical companies are also preparing for upcoming events, including webinars on AI regulation and drug development. Job opportunities in the pharmaceutical industry are available at companies like Takeda, Eli Lilly and Company, and Novo Nordisk.

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma and Biotech world.## Sarepta's DMD gene therapy patient dies, causing a 22% drop in shares.Sarepta experienced a significant setback as a patient participating in their DMD gene therapy trial tragically passed away, leading to a 22% decrease in their shares.## Arbor raises $73.5 million for gene editing research.Arbor successfully secured $73.5 million in funding to further their research in gene editing, showcasing the growing interest and investment in this innovative field.## Opko and Entera collaborate on oral GLP-1/glucagon drug development.Opko and Entera have joined forces to collaborate on the development of an oral GLP-1/glucagon drug, combining their expertise to potentially revolutionize treatment options for patients.## Mirador aims to be a leading I&I breakthrough by 2030.Mirador has set ambitious goals to become a leading breakthrough in the field of inflammation and immunology by the year 2030, highlighting their commitment to advancing healthcare solutions.## Sino Biological offers reagents for 2025-2026 influenza vaccine strains.Sino Biological is providing reagents for the upcoming 2025-2026 influenza vaccine strains, contributing to the global efforts to combat infectious diseases and protect public health.## AstraZeneca invests $1.35 billion in subcutaneous cancer drugs with Alteogen alliance.AstraZeneca has made a substantial investment of $1.35 billion in subcutaneous cancer drugs through a strategic alliance with Alteogen, signaling their dedication to advancing oncology treatments.## DYNE's Duchenne exon skipping oligomer shows promising clinical effect.DYNE's Duchenne exon skipping oligomer has demonstrated promising clinical effects, offering hope for patients with this debilitating genetic disorder and potentially paving the way for new treatment options.Thank you for tuning in to Pharma and Biotech daily, where we bring you the latest updates and developments shaping the pharmaceutical and biotechnology industries. Stay informed and stay ahead in the world of healthcare innovation.

A patient with Duchenne muscular dystrophy taking Sarepta's gene therapy Elevidys has died of acute liver failure, possibly related to a recent viral infection. Sarepta, which said it will update Elevidys' label to reflect the new safety signal, saw its shares drop 22% on the news but analysts still seem positive on the drug, as treatment options for Duchenne remain limited.Meanwhile, both AstraZeneca and Taiho Pharmaceuticals announced acquisitions worth up to $1 billion or more in two sizzling therapeutic spaces, cell therapy and antibody-drug conjugates, respectively.Despite canceling a vaccine advisory committee late last month, the FDA on Thursday selected flu strains to be targeted in the upcoming 2025-2026 flu season. And at another federal agency, the Centers for Disease Control and Prevention, employees will have to wait a bit longer to see who will take the helm under Donald Trump, as the president's nominee, Dave Weldon, was pulled hours before he was set to appear before a Senate committee on Thursday. Like HHS Secretary Robert F. Kennedy Jr., Weldon has expressed anti-vaccine views in the past, particularly his continued suggestion of the link between vaccines and autism. Guggenheim Partners called the move to revoke Weldon's nomination “a positive sign for reigning in vaccine criticism.”In the weight loss arena, BioSpace takes deep dives into the tendency for biopharma to develop fast-followers, or me-too drugs—following a pattern seen with PD-1 checkpoint inhibitors after the approvals of Merck's Keytruda and Bristol Myers Squibb's Opdivo. One key difference between these two markets, however, is that when it comes to GLP-1s for weight loss, patients are not staying on these medicines. Drug developers are trying several approaches to improve treatment persistence, including titration, combinations and even secondary drugs that address side effects. They're also making other moves to differentiate themselves, including focusing on overall health outcomes—in areas like cardiovascular, sleep apnea and kidney disease.Following on BioSpace's coverage of the major patent cliffs that many Big Pharma companies are facing in coming years, we also take a look back at some of the companies that have already weathered such loss of exclusivity. It's rarely a straightforward story of sales crashing off patent, as companies take various tacks to extend their blockbuster sales.Finally, the cardiovascular space is expecting some movement this week. First, Alnylam is anticipating a decision on its RNAi silencer Amvuttra in ATTR-CM. An approval—which is widely expected—would make three companies on the market in this rapidly expanding space after Pfizer's tafamidis was approved in May of 2019, and BridgeBio's Attruby got the greenlight in November last year. And second, Milestone Pharmaceutical has a PDUFA coming up for etripamil in paroxysmal supraventricular tachycardia.

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma and Biotech world.AstraZeneca has recently made a significant investment of up to $1 billion in cell therapy through the acquisition of esobiotec. This move is part of AstraZeneca's larger strategy to expand in the cell therapy space, positioning itself to be a major player in the market. Dyne is also looking to file for accelerated approval for its Duchenne exon skipping oligomer, while Taiho Pharmaceutical has acquired ADC partner Araris for up to $1.1 billion. Alnylam is expected to enter the transthyretin amyloid cardiomyopathy market, which is projected to reach $11.2 billion by 2030.Sino Biological has developed reagents for the 2025-2026 influenza vaccine strains, offering a range of recombinant proteins for vaccine development. The pharmaceutical industry is seeing significant activity in various therapy areas, with companies making strategic investments and advancements in research and development.Alnylam is awaiting approval for their drug Amvuttra in the transthyretin amyloid cardiomyopathy market, which is currently dominated by Pfizer and BridgeBio. The obesity drug market is becoming increasingly competitive, with companies focusing on overall health benefits rather than just weight loss. Biopharma companies are now exploring the use of CAR T cell therapies for autoimmune disorders, with several readouts expected this year. Ionis and Ultragenyx are competing to develop treatments for Angelman syndrome, while Neuren is trying to catch up.Overall health outcomes are becoming more important in the obesity drug market, with successful studies in therapeutic areas like cardiovascular and sleep apnea providing a market advantage. Other news includes flu vaccine recommendations from the FDA and updates on drugs for alcohol use disorder, plaque psoriasis, breast cancer, and weight loss. The biopharma industry continues to evolve, with readers encouraged to provide suggestions for future coverage topics.

Llegan al IECM listados de  candidatos a elección judicial INR revela placa como el primer Centro Duchenne certificado en México Zelensky es incapaz de llegar a acuerdos: Rusia Más información en nuestro podcast

Organoids, three-dimensional cell models that can replicate an individual's organs, are valuable tools for testing medicines that might treat their illness. It can, however, take up to $10,000 and a year to grow organoids using conventional methods from patient-derived induced pluripotent stem cells. Researchers at Children's Mercy Kansas City's Genomic Medicine Center developed a way to do this from about $200 and in two to three weeks. We spoke to Scott Younger, director of disease gene engineering at Children Mercy Kansas City's Genomic Medicine Center, about the process, the test it ran to match three children with Duchenne muscular dystrophy to an antisense oligonucleotide therapy, and the potential impact this may have on developing customized therapies for people with rare genetic diseases.

Rare condition research is evolving, and patient communities are driving the breakthrough. In this special Rare Disease Day episode, we explore the challenges and opportunities shaping the future of rare condition therapies. From groundbreaking gene therapy trials to the power of patient-driven research, our guests discuss how collaboration between families, clinicians, researchers, and regulators is paving the way for faster diagnoses, equitable access to treatments, and innovative approaches like nucleic acid therapies and CRISPR gene editing. With insights from Myotubular Trust, we follow the journey of family-led patient communities and their impact on advancing gene therapy for myotubular myopathy - showcasing how lived experience is shaping the future of medicine. However, while patient-driven initiatives have led to incredible progress, not every family has the time, resources, or networks to lead these research efforts. Our guests discuss initiatives like the UK Platform for Nucleic Acid Therapies (UPNAT), which aims to streamline the development of innovative treatments and ensure equitable access for everyone impacted by rare conditions. Our host Dr Ana Lisa Tavares, Clinical lead for rare disease at Genomics England, is joined by Meriel McEntagart, Clinical lead for rare disease technologies at Genomics England, Anne Lennox, Founder and CEO of Myotubular Trust and Dr Carlo Rinaldi, Professor of Molecular and Translational Neuroscience at University of Oxford. "My dream is in 5 to 10 years time, an individual with a rare disease is identified in the clinic, perhaps even before symptoms have manifested. And at that exact time, the day of the diagnosis becomes also a day of hope, in a way, where immediately the researcher that sent the genetics lab flags that specific variant or specific mutations. We know exactly which is the best genetic therapy to go after." You can download the transcript, or read it below. Ana Lisa: Welcome to Behind the Genes.    [Music plays]  Anne: What we've understood is that the knowledge and experience of families and patients is even more vital than we've all been going on about for a long time. Because the issue of there being a liver complication in myotubular myopathy has been hiding in plain sight all this time, because if you asked any family, they would tell you, “Yes, my son has had the odd liver result.”  There were some very serious liver complications but everybody thought that was a minor issue, but if we are able to engage the people who live with the disease and the people who observe the disease at a much more fundamental level we may be able to see more about what these rare genes are doing.  [Music plays]  Ana Lisa: My name is Ana Lisa Tavares, I'm Clinical Lead for Rare Disease research at Genomics England and your host for this episode of Behind the Genes. Today I'm joined by Anne Lennox, Founder and CEO of the Myotubular Trust, Dr Meriel McEntagart, an NHS consultant and Clinical Lead for Rare Disease Technologies at Genomics England, and Dr Carlo Rinaldi, Professor of Molecular and Translational Neuroscience at the University of Oxford.    Today we'll be hearing about the importance of involving the patient community, particularly as new rare therapies are developed, and discussing the forward-facing work that's happening that could have potential to unlock novel treatments for many rare conditions.  If you enjoy today's episode we'd love your support. Please like, share and rate us on wherever you listen to your podcasts. Thank you so much for joining me today.  Please could you introduce yourselves.   Anne: I'm Anne Lennox, I'm one of the founders of the Myotubular Trust, a charity that raises research funds for and supports families affected by the rare genetic neuromuscular disorder myotubular myopathy.  Meriel: I'm Meriel McEntagart, I'm a consultant in clinical genetics in the NHS and I have a special interest in neurogenic and neuromuscular conditions.  Carlo: Hi, I'm Carlo Rinaldi, I'm Professor of Molecular and Translational Neuroscience at the University of Oxford. I'm a clinician scientist juggling my time between the clinic and the lab where we try to understand mechanisms of diseases to develop treatments for these conditions.  And I'm also here as a representative of the UK Platform for Nucleic Acid Therapies, UPNAT. Thanks for your invitation, I'm very pleased to be here.  Ana Lisa: Thank you. Meriel, I'd love you to tell us a bit about your work and how you met Anne, how did this story start?  Meriel: Thank you. Well prior to being a consultant in clinical genetics, I spent 2 years as a clinical research fellow in neuromuscular conditions, and as part of that training I worked on a project where the gene for myotubular myopathy had just been identified, and so there was a big international effort to try and come up with sort of a registry of all the genetic variants that had been found as well as all the clinical symptoms that the affected patients had, and then do kind of a correlation of the particular variant mutation with symptoms.   I worked when I was training to be a clinical geneticist because of my interest in neuromuscular conditions so when I eventually became a consultant at St George's Hospital I was actually interviewed by the Professor of Paediatrics and he knew Anne and her son, when Anne was looking for more information about the condition he suggested that perhaps I might be a good person for Anne to talk to.  Ana Lisa: Thank you. Interesting connections. Anne, can you tell us your story and how this led you to found the Myotubular Trust?  Anne: Yes, thanks Ana-Lisa.  Well, as many families will tell you when they're newly diagnosed with a rare disease, you go from knowing nothing about a condition to being one of the few deep experts in that condition because there are so few deep experts. So this happened to us in 2003 when our son, Tom, was born, and when he was born he was floppy and his Apgar scores, the scores they do on new-born babies, were pretty poor, and before long we knew that it was more than just momentary issues at birth.  And, cutting a very long story short, 5 weeks later he was diagnosed with this very rare neuromuscular genetic disorder that we didn't know we had in the family.  We were told that this was a very serious diagnosis.    At that time – more than 20 years ago – over 80% of those boys didn't make it to their first birthday and the stark statistic we had in our head a lot was that only 1% made it past the age of 10. And that has changed due to better ventilator and breathing equipment, etc, but at the time we expected that he might not make it to his first birthday.    We were very lucky, we had Tom longer than one year, we had him for nearly 4 years, 4 very lovely years where it was tough, but he was a really lovely member of our family.  Despite being really weak he managed to be incredibly cheeky and bossy, and he was a great little brother for his big sister. We were also very lucky that he was being looked after by Professor Francesco Muntoni, who is Head of the Paediatric Neuromuscular Service at Great Ormond Street. And, like Carlo, he is a clinical researcher and actually that I found to be amazing as a family member because you knew what was happening out there and Professor Muntoni, other than living with the reality day to day you want to know where things are going.    We began to realise that back then 20 years ago the more common rare neuromuscular diseases were finally beginning to get some fundamental research funds, like Duchenne, spinal muscular atrophy, and Professor Muntoni was very good at explaining to lay non-scientific parents like us that one day the technologies that would lead to a cure, that would re-engage proteins for other conditions and would translate down eventually into the possibility of replacing myotubularin, which is the protein not being produced or not being produced enough in myotubular myopathy. And then we began to understand actually what the barriers to that would be, that translating developments in more common, or let's say more prevalent conditions, would be hard to do without some translation research being done; you could not just not lag years behind, you could lag decades behind if you haven't done some other work.    So, I met Wendy Hughes, another mother, of a boy called Zak who was a few years older than Tom, and these were the days before social media, and it was amazing to be in contact with another family going through something similar and we had great conversations. But then they were also looked after by Professor Muntoni and we particularly began to develop the idea as 2 families that we might be able to raise some research funds towards this concept of keeping pace with the scientific developments.  And then we discovered there was no charity we could channel those funds through. Even the umbrella body for neuromuscular diseases who were covering 30 to 40 conditions, frankly, they just couldn't trickle their funding down into investing in every neuromuscular disease, and slowly but surely it dawned on us that if we did want to make that difference we were going to have to set up our own charity.   So that's what we eventually did and back in 2006, we founded what was actually the first charity in Europe dedicated to myotubular myopathy – luckily, more have come along since – and we were dedicated to raising research funding. In fact, it wasn't our goal to set up another charity but around that time, about a year in, we happened to go to a meeting where the Head of the MRC, the Medical Research Council, was giving a talk and he said that in the last few years the MRC had begun to really realise that they couldn't cure everything, that they couldn't cure the diseases that would be cured in the next millennium from a top down perspective. There had to be a trick, there had to be a bottom up as well, because that was the only way this was going to happen. And I have to say that that was a really reassuring moment in time for us to realise that we weren't just chasing pipe dreams and trying to do something impossible, that there was a role for us.    Ana Lisa: I think it would be really interesting for people to hear your story and the amazing set-up and fundraising that you've done, and at the same time it would be really good for us to reflect on how this isn't feasible for every patient and every family and how we're going to need to work cooperatively to move forwards with rare therapies.  Anne: When we explored the idea with Professor Muntoni and Meriel and others about setting up a charity one of the really reassuring things that Professor Muntoni got across to us was that this wasn't about raising the millions and millions it would take to fund clinical trials but the issue in the rare disease space was funding the proof of principle work, the work where you take a scientist's hypothesis and take it over the line, and the rarer the disease, the less places there are for a scientist to take those ideas. And the example he gave us was a piece of research like that might cost a hundred to a couple of hundred thousand, if you fund a piece of work like that and if it is successful, if the scientist's principle gets proven, then behind you it's much easier for the bigger muscle disease charities to also invest in it. It's harder for them to spread their money across all the very rare diseases hypothesis out there, but if you've helped a scientist get over the line they'll come in behind you and then they won't be the ones who fund the tens of millions that it takes to run a clinical trial.    If it's got potential, then that's where the commercial world comes in, and that's where the biotechs come in. So he'd given the example of if you spent £ten0,000 on a piece of research and it actually is proven, in behind you will come the bigger charities that would put in the million that takes it to the next phase, and in behind them will come the bio-checks that'll provide biotechs that'll provide the tens of millions.    And then, you know, a lot of what happens relies on serendipity as well, we know that, and you could easily run away with the idea that you made everything happen but you don't, you stand on the shoulders of others. And our very first grant application in our first grant round, which received extraordinary peer review for how excellent the application was, was a £100,000 project for a 3-year project that had gene therapy at the core of it by a researcher called Dr Ana Buj Bello at Généthon in Paris. This piece of research was so promising that 18 months in she and another researcher were able to raise $780,000 and, as Professor Muntoni predicted, from the French muscle disease charity AFM and the American muscle diseases charity MDA.  And 18 months into that 3 years it was so promising that a biotech company was started up with $30 million funding, literally just on her work.    So that doesn't always happen but, as Professor Muntoni explained, our job was not that $30 million, our job was that first £100,000, and our job was also to make ourselves known to the people in the neuromuscular field.  If you have lab time, if you have research time and you have a choice where you're putting it there is a place you can go to for a myotubular myopathy related grant application, so it's not just that this will come to us out of the blue, people will have done prior work, and our existence makes it worth their while, hopefully, to have done that prior work.  Ana Lisa: That's an amazing story how you've set up this charity and how successful that first application for gene therapy was. I'd love to hear more about that gene therapy and did it get to the clinic and to hear that story from you.  Because I think there are a lot of learnings and it's really important that the first patients who are treated, the first families that are involved, the researchers who start researching in this area, the first treatments lead the way and we learn for all the other treatments for all the other rare conditions that we hope and that together as a community we can share these learnings.  Anne: Yeah. I sometimes describe it a bit like going out into space. When you see a rocket going off look at how many people are behind and the amount of work that's been done, the degree of detail that's managed, and then you go out into space and there are a whole load of unknowns, and you can't account for all of them.  Who knows what's out there in this sphere.  But the amount of preparation, it feels similar to me now, looking back.  We were so idealistic at the beginning.  Our grant to Dr Buj Bello was 2008 and actually it is a really fast time in, the first child was dosed in the gene therapy trial in September 2017.  Ana Lisa: So, we're talking less than 1 years.  Anne: Yeah. And in the meantime obviously as a charity we're also funding other proof of principle research. One of the founding principles of the charity was to have a really excellent peer review process and scientific advisory board so that we wouldn't get carried away with excitement about one lab, one research team, that everything would always come back to peer review and would be looked at coldly, objectively. I don't know how many times I've sat in a scientific advisory board meeting with my fingers crossed hoping that a certain application would get through because it looked wonderful to me, and then the peer review comes back and there are things you just don't know as a patient organisation. So, yes, in those 9 years we were also funding other work.  Ana Lisa: You've just given an interesting perspective on sharing the learnings between the scientists, clinicians, the experts in a particular condition, if you like, and the families, and I'd be really interested to hear your views on what's been learnt about how families and the patient community can also teach the clinical and scientific community.  Anne: So, the first child was dosed in September 2017 and by the World Muscle Society Conference 2 years later in October 2019 the biotech had some fantastic results to show. Children who had been 24-hour ventilated were now ventilator-free, which, unless you know what it's like to have somebody in front of you who's ventilator-dependent, the idea that they could become ventilator-free is just extraordinary.    However, one of the things we've learnt about gene therapy is that we are going out into space so there are extraordinary things to be found, and extraordinary results are possible, as is evidenced here, but there is so much that we don't know once we are dealing with gene therapy. So unfortunately, in May, June and August of 2020, 3 little boys died on the clinical trial. So we have a clinical trial where the most extraordinary results are possible, and the worst results are possible, and both of those things are down to the gene…  What we discovered and what is still being uncovered and discovered is that myotubular myopathy is not just a neuromuscular disorder, it is a disorder of the liver too, and these children didn't die of an immune response, which is what everybody assumes is going to happen in these trials, they died of liver complications.    And one of the things that has come out of that, well, 2 sides to that. Number one is that it is extraordinary that we have found a treatment that makes every single muscle cell in the body pick up the protein that was missing and produce that protein, but also what we've understood is that the knowledge and experience of families and patients is even more vital than we've all been going on about for a long time. Because the issue of there being a liver complication in myotubular myopathy has been hiding in plain sight all this time, because if you asked any family they would tell you, “Yes, my son has had the odd liver result, yes.”    We could see something that looked like it was not that relevant because it was outside the big picture of the disease, which was about breathing and walking and muscles, but actually there was this thing going on at the same time where the children had liver complications. There were some very serious liver complications but everybody thought that was a minor issue but if we are able to engage the people who live with the disease and the people who observe the disease at a much more fundamental level we may be able to see more about what these rare genes are doing.  Ana Lisa: Yeah, thank you very much for sharing such a moving story and with such powerful lessons for the whole community about how we listen to the expertise that families have about their condition, and also I think the really important point about how we tackle the research funding so that we're including and sharing learnings from the conditions that are initially studied in greater depth, and we hope that many more conditions will be better understood and more treatments found and that actually the learnings from these first gene therapy trials will really help inform future trials, not just for gene therapies but also for many other novel therapies that are being developed.  [Music plays] If you're enjoying what you've heard today, and you'd like to hear some more great tales from the genomics coalface, why don't you join us on The Road to Genome podcast. Where our host Helen Bethel, chats to the professionals, experts and patients involved in genomics today. In our new series, Helen talks to a fantastic array of guests, including the rapping consultant, clinical geneticist, Professor Julian Barwell, about Fragile X syndrome, cancer genomics and a holistic approach to his practice - a genuine mic-drop of an interview. The Road to Genome is available wherever you get your podcasts. [Music plays] Ana Lisa: Carlo, I would really like to come to you about some of the initiatives that are happening in the UK, and particularly it would be really interesting to hear about the UK Platform for Nucleic Acid Therapies as a sort of shining example of trying to do something at a national scale across potentially many different rare conditions.    Carlo: Thanks, Ana-Lisa. Thanks very much, Anne, for sharing your fantastic story. I mean, I just want to iterate that as clinician scientists we do constantly learn from experiences and constantly learn from you, from the patient community, and this is absolutely valuable to push the boundary. And I really liked your vision of a rocket being launched in space and I would imagine that this is a similar situation here. So, we are facing a major challenge. So, there is over 7,000 rare diseases in the world and with improvements of genetic diagnosis this is only increasing. So, in a way rare diseases is the ultimate frontier of personalised medicine and this poses incredible challenges.   So, you mentioned the bottom-up approach and the top-down approach and in a way, both are absolutely necessary. So your story is a fantastic story but also makes me think of all the other families where they don't share perhaps the same spirit, you know, they are in areas of the world that are not as well connected or informed, where patient community simply cannot be ‘nucleated', let's say, around the family. So, there is definitely an issue of inclusivity and fair access.    So, what we're trying to do at UPNAT, which is the UK Platform for Nucleic Acid Therapy, is to try to streamline the development both at preclinical and clinical level of nucleic acid therapies. So, we'll start with antisense oligonucleotides just because those are the molecules of the class of drugs that are most ‘mature', let's say, in clinic. So, there are several antisense oligonucleotides already approved in the clinic, we know that they are reasonably safe, we understand them quite well, but of course the aspiration is to then progress into other forms of gene therapy, including gene editing approaches, for example.   And one of the activities that I'm involved, together with Professor Muntoni, is to try to streamline the regulatory process of such therapies and in particular curate a registry of, for example, side effects associated with nucleic acid therapy in the real world, and you would be surprised that this is something that is not yet available.  And the point is exactly that, it's trying to understand and learn from previous mistakes perhaps or previous experiences more in general.    And this is very much in synergy with other activities in the UK in the rare disease domain.  I'm thinking of the Rare Disease Therapy Launchpad, I'm thinking of the Oxford Harrington Centre, I am thinking of the recently funded MRC CoRE in Therapeutic Genomics. These are all very synergistic. Our point is we want to try to amplify the voice of the patient, the voice of the clinicians working on rare disease, and we want to systematise. Because of course one of the risks of rare disease therapies is the fragmentation that we do all these things in isolation. And I would argue that the UK at the moment leveraging on the relatively flexible and independent regulatory agencies, such as the MHRA, on the enormous amount of genetics data available through Genomics England, and of course the centralised healthcare system, such as the NHS, is really probably the best place in the world to do research in the rare disease area, and probably I'm allowed to say it because I'm a non-UK native.       Ana Lisa: Thank you, that's a brilliant perspective, Carlo, and across all the different therapeutic initiatives that you're involved with. And, Carlo, presumably - we're all hoping - these different initiatives will actually lead to ultimately a bigger scaling as more and more novel therapies that target both our RNA and DNA and actually are working, I guess further upstream in the pathway.    So classically in the past it's been necessary to work out all the underlying biology, find a druggable target somewhere in that pathway and then get a larger enough clinical trial, which can be nearly impossible with many of the rare and ultra-rare conditions or even, as you've said, the sub-setting down of more common condition into rarer subtypes that perhaps can be treated in different ways.  And with the many new different treatments on the horizon, ASO therapies, as you've said, is a place that's rapidly expanding, and also crisper gene editing. I'd be really interested to hear your reflections on how this might scale and also how it might extend to other new treatments.  Carlo: Yeah, that's exactly the right word, ‘scaling up'. I mean, there will be of course very unique challenges to every single rare disease but I would argue that with genetic therapies, such as ASOs or crisper gene editing, the amount of functional work that you need to do in a lab to prove yourself and the scientific community that this is the right approach to go for can be certainly very important but can be less just because you're addressing very directly because of the disease.    And then there are commonalities to all these approaches and possibly, you know, a platform approach type of regulatory approval might serve in that regard. You know, if you are using the same chemistry of these antisense oligonucleotides and, you know, similar doses, in a way the amount of work that you need to produce to again make sure that the approach is indeed a safe approach and an effective approach might be also reduced.    I would say that there are also challenges on other aspects of course, as you were saying, Ana-Lisa. Certainly the typical or standard randomised placebo control trial that is the standard and ultimate trial that we use in a clinical setting to prove that a molecule is better than a placebo is many times in the context of rare diseases simply not possible, so we need to think of other ways to prove that a drug is safe and is effective.   This is something that we all collectively as a scientific community are trying to address, and the alliance with the regulatory agencies, such as the MHRA, and you said that you have found your interaction with the MHRA very positive, and I can tell you exactly the same. So we are all trying to go for the same goal, effectively, so trying to find a way to systematise, platformise these sort of approaches. And I guess starting with antisense oligonucleotides is really the right place to go because it's a class of drugs that we have known for a long time, and we know it can work.  Ana Lisa: Meriel, can you tell us a little about the National Genomic Research Library at Genomics England and how this could link with initiatives to find many more patients as new treatments become available for rare and ultra-rare conditions?  Meriel: Yes, I think what's wonderful now is actually that what we're really trying to do is give everybody the opportunity to have their rare condition specifically diagnosed at the molecular level, and the way in which that is being done is by offering whole genome sequencing in the NHS currently in England but to all patients with rare diseases.    And so, it's about trying to establish their diagnosis. And as well as that, even if the diagnosis isn't definitely made at the first pass when the clinical scientists look at the data, because the whole genome has been sequenced, actually all that information about their genome, if they consent, can then be put into the National Genomics Research Library.  And that is a fantastic resource for national and international researchers who get approved to work in this trusted research environment to make new disease gene discoveries and identify these diagnoses for patients.  What's also offered by Genomics England as well is when the National Genomics Library data results in a new publication, the discovery of a new gene or perhaps a new molecular mechanism that causes a disease we already know about, that feeds back into the diagnostic discovery pathway within Genomics England back onto the diagnostic side of all the data.    So, patients who may have had genetic testing previously using whole genome sequencing where they've, if you like, had their sequencing done before the diagnosis was sort of known about, will also be picked up. And so, what this is really doing is trying to kind of give this really equal platform for everybody having testing to all have the same opportunity to have their diagnosis made, either on the diagnostic side or with research.  Ana Lisa: So, sort of on a cohort-wide scale as new discoveries are made and published you can go back and find those patients that may actually have that diagnosis and get it back to them, which is brilliant.  Meriel: Exactly. And this speeds up the whole process of getting these diagnoses back to people. So on a regular basis in the NHS, we will get feedback from the Diagnostic Discovery Pathway about “Here's some patients who you requested whole genome sequencing from a number of years ago and actually now we think we know what the particular molecular condition is.”  And so, it's key of course for our patients with rare conditions to make that molecular diagnosis because then we're able to have them identified for our colleagues who are doing this ground-breaking research trying to bring therapies for these rare conditions.  Ana Lisa: Thank you. And I hope that, as currently, if a novel genetic mechanism, as you've just described, is identified that could explain a rare condition that those patients can be found and they can receive that diagnosis, even many years later, and hopefully as novel treatments become available and say there's a chance to individualise ASO therapies, for example, to start with, that one could also go and look for patients with particular variants that could be amenable potentially to that treatment. And that's really sort of exciting that one could look for those patients across England, irrespective of which clinic they're under, which specialist they're under, and I think that could be really powerful as new treatments develop. I suppose, Meriel, if somebody comes to see you now in clinic are things different?  Meriel: Well, I think one of the things for me when patients come to clinic now is we might have an idea about what we think their condition is, maybe even we think it's a specific gene. And we can offer whole genome sequencing and so it's not just the way we used to do things before by looking just at the coding regions of the gene, we can find more unusual ways in which the gene can be perturbed using whole genome sequencing.  But let's say we don't make the diagnosis. I encourage my patients, if they're comfortable with it, to join the National Genomics Research Library, because really it's been incredibly productive seeing the new genetic discoveries that are coming out of that, but as well I say to them, even if we don't get the diagnosis the first time round when we look at the data, actually this is a constant cycle of relooking at their data, either if they're in the NGRL or as well on the Diagnostic Discovery Pathway side of the service that's run by Genomics England. So yeah, I feel like it's a very big difference; they don't have to keep coming every year and saying, “Is there a new test?” because actually they've had an excellent test, it's just developing our skills to really analyse it well.  Ana Lisa: Yes, and our knowledge, the technology and the skills keep evolving, certainly.  And I think one of the things that I'm sort of hearing from this conversation is that balance of hope and realism, Carlo we were talking about earlier how you need all the pieces of the puzzle to be lined up - so the regulatory agency, the clinicians, all the preclinical work has to have been done, monitoring afterwards for side effects - every piece of the puzzle has to be lined up for a new treatment to make it to a patient.    And, Anne, I'd like to come back to you because we've talked about this before, how one balances these messages of optimism and hope which are needed for bringing everybody together as a community to crack some of these very difficult challenges highlighted by treatments for rare and ultra-rare conditions and at the same time the need for realism, a balance conversation.  Anne: Yeah, that was one of our big learnings through the gene therapy trial and other trials we've had in the condition. As a rare disease charity, you do everything. You know, my title is CEO, but I tell people that's Chief Everything Officer because there's only a few of you and you do everything. So, you go and you lead the London Hope Walk and you also are a layperson on the Scientific Advisory Board and you also send out the emails about grants... And so, you could easily as a small rare disease charity conflate different communication messages because you're in a certain mode.  And so we have been from the early days in the mode of raising hope for people to say, “Look, we can make a difference as a patient community, we could raise funds, we might be able to move things forward, you've got the power to make a difference if you want to.” That's one set of hope.  And it's not dreamlike hope, we're linked to the reality of there are great breakthroughs.  So, you know, in the world of spinal muscular atrophy these clinical trials have led somewhere very quickly, so we're not selling false hope, we're talking about the difference we can make.    But then as soon as you flip into “There's a clinical trial being run” that's a completely different type of communication and you cannot conflate that message with the previous message.  And we always say to everybody, “We're your team, we're a family, we're a team, we all help each other.  When you are considering joining a clinical trial your team is the clinical trial team.    The other team does other things for you but the people you need to work with and ask hard questions of and listen hard to, that's your clinical trial team led by the principal investigator because then you're in that with them. And, you know, the reality of the fact that many, many clinical trials don't work as we wish they would be and the decision you make for your child, your baby, your little one, to join a clinical trial… because that's what it comes down to in our disease, has to be made with that team, not the team that's selling you a fundraising event. It's worth reminding rare disease patient organisations we're wearing different hats and the hope and the realism are different tracks you have to go down.    But at the same time as being realistic you also have to keep remembering that there is still grounds for hope, we are moving forward. And 21 years ago, when Tom was born the idea that you would be able to get all of the muscles in the body to switch back on – putting it in lay terms – seemed like a bit dream. Well, that is what has happened in the gene therapy clinical trial, we just have to now make it safer and understand more about what we're dealing with. So, the 2 things, the hope and the realism, do exist side by side.  Ana Lisa: I think that perfectly encapsulates a lot of the messages around rare disease therapies where there's such hope that novel treatments will really target directly the DNA or RNA to potentially correct the problem across many different rare conditions and therefore actually making treatments one day suddenly available to a much, much bigger population of people with rare conditions than we could've dreamt of 20 years ago or perhaps now, and at the same time this massive need to work cooperatively to all make this as fair, as equitable. Not everybody is going to have the opportunity to fundraise massively to be an expert about their condition, and the importance of sharing these learnings and also really, really listening to the patient community and really, as Carlo was saying, keeping track of side effects, having registries/databases to share these is going to be incredibly important.  [Music plays]  Ana Lisa:  Anne, can you tell us a little about your reflections on equity from the patient community perspective?  Anne: Well I mentioned serendipity early and one of the aspects of serendipity that played into our favour for setting up the Myotubular Trust was that by hook or by crook Wendy Hughes, who set up the charity with me, and I were both able to devote time at that period of our lives to setting up a charity. When my husband, Andrew, and I were told that Tom would more than likely die before his first birthday, one of the decisions we made as a family was that he would never not be with a parent, we would always have someone around, and that kind of meant someone had to give up a full-time job and that was me.  We thought, “If Tom has a few scarce months on the planet, we'll be with him.” And then when Tom lived to be nearly 4, as a family we got used to living on one salary and we were very lucky that we could pay the mortgage that way and run our family that way and eventually that meant I had the time to run the charity.    That doesn't happen that easily, that's a tall order, particularly when you have somebody in the family who has such high needs. And one of the things that I have often thought about is that in the rare disease space we could do with a different funding model for rare disease charities, we could, in an ideal world I have this nirvana that I imagine where there's a fund that you can apply to that is contributed to by the people who make profits out of finding rare disease cures - so the pharmaceutical companies and the biotechs - and there's a fund that they contribute to and that if you have a rare disease and you are willing to set up an organisation that supports families, that raises research funds, that provides a way of hearing the patient voice, then you could apply to that for running cost funds and then you'd be able to run this charity. And then you wouldn't have to rely on whether you live in an area where people will raise money for you or…  We were very lucky that we came across a few great benefactors who would give us money for running the charity, which is actually how we fund it.    All the research money we raise goes 100% into research, not a penny of it goes towards running costs because we have serendipitously found people who will be benefactors for the charity, but we're relying on a lot of good luck for that kind of model to work. And when you look at how much profit is made from developing rare disease treatments and cures – which is fine because that's what puts the passion and that gets people working on it – then why not have an advance fund to run rare disease charities? One of my nirvana dreams.  Ana Lisa: It's good to dream. Indeed, my hope is that there will be some amazing shining examples that lead the way that open doors, make things possible, prove that something can work and how and that then that will enable many other treatments for many additional rare conditions to be added in so that if you've learnt how this particular treatment modality works for this rare condition and there was funding behind it and everything else that's needed that then you can, the learning from that, I'm going to use the word ‘tweak', which sounds minor and could be very major but actually the concept that you can then tweak all those learnings and findings so that that same type of treatment modality could be adapted to treat somebody else with a different rare condition in a different location would be absolutely incredible and really powerful, given that if something like 85% of rare conditions affect less than one in a million people it's not going to be feasible to use the same strategies that have been used in the past for very common conditions.    One of the other big barriers is the cost of developing treatment for ultra-rare conditions.  Where it's a small number of patients that you have and therefore all the challenges that come with monitoring, checking for efficacy, monitoring safety and ultimately funding the challenges are much greater, however if some of these treatment modalities are also going to be used to treat common conditions it might be that actually there's a lot more cross-talk between the nano-rare, ultra-rare, rare and common conditions and that we can share a lot of that learning. I'd love to hear from each of you where you hope we will be for rare disease and rare therapies.  Carlo: Well my dream is that in 5 to 10 years' time an individual with a rare disease is identified in the clinic, perhaps even before symptoms have manifested, and at that exact time the day of the diagnosis becomes also a day of hope in a way where immediately the researcher, the centre, genetics lab, flags that there are the specific mutations, we know exactly which is the best genetic therapy to go after, antisense oligonucleotides as opposed to CRISPR editing, and a path forward, both at the preclinical and clinical level, to demonstrate and to cure these patients eventually is already laid out in front of the patient.  So, transforming the day of their diagnosis as a day of hope, this is my dream with the next ten years.  Ana Lisa: Thank you, that's a wonderful dream. Meriel, can I come to you?  Meriel: Yes, I think I just want to echo Carlo.  We've had great developments and progress with getting whole genome sequencing into the NHS for testing but what we really need is for it to be fast and efficient and getting those diagnoses established quickly. And we have had that set up now and we're really getting there in terms of speed, but then what we need is exactly what's the next step and actually structure like UPNAT that are developing these processes that we can then say to the patient, “And from there, now that we've established your diagnosis, this is what we have options to offer.”  Ana Lisa: Brilliant. And presumably that if the diagnosis isn't achieved now there is a hope that it will be achieved in the future as well. Anne...  Anne: Well, stepping one hundred per cent into the patient's shoes rather than the scientific side that we don't so much influence....  stepping in the patient's shoes, in 5 years' time I would absolutely love it if we were in a situation where all the parties that have come to the table looking at a therapy or in the earlier research genuinely want to bring the patient voice into the room. As Carlo talked about, there's even going to be more and more and more of these rare diseases, then those voices, those few people who have experience of it, they may be able to shed light on something. Maybe even sometimes don't even know it's a fact that they know but that were brought to the table as passionately as everything else is brought to the table.  [Music plays]  Ana Lisa: We'll wrap up there. Thank you so much to our guests, Anne Lennox, Carlo Rinaldi and Meriel McEntagart, for joining me today as we discuss the collaborative power of working together and look to the future of rare therapies that could have the potential to unlock treatments for many rare conditions. If you'd like to hear more like this, please subscribe to Behind the Genes on your favourite podcast app.  Thank you for listening.  I've been your host, Ana-Lisa Tavares. This podcast was edited by Bill Griffin at Ventoux Digital and produced by Naimah Callachand.  

Clinical-stage drug development offers big rewards—and big risks. To that end, Fierce Biotech recently published its annual roundup of several of the most eye-catching trial failures of the preceding year. The 2024 list includes trial flops from the likes of AbbVie, Novo Nordisk, Pfizer and more, with reports of disappointing results in many tough-to-treat indications, including schizophrenia and Alzheimer's disease. In this week’s episode of The Top Line, we dive into the report. Fierce Biotech’s James Waldron and Gabrielle Masson discuss the entries that stood out for them and ask what lessons the biopharma industry can learn from these setbacks going forward. To learn more about the topics in this episode: 2024's top 10 clinical trial flops AbbVie's $9B schizophrenia prospect flunks phase 2 trials, handing advantage to BMS GSK surrenders HSV vaccine hopes after phase 2 fail, ceding race to Moderna, BioNTech Merck halts phase 3 TIGIT trial after immune-mediated adverse events prompt discontinuations Pfizer's phase 3 gene therapy trial fails to improve function for boys with Duchenne muscular dystrophy See omnystudio.com/listener for privacy information.

What if the treatment they said was impossible… actually worked? In this inspiring episode of The Real Health Podcast, Dr. Ron Hunninghake, MD sits down with Blake Benton to discuss his family's incredible journey with stem cell therapy for Duchenne muscular dystrophy. Learn how Coming Together for a Cure, a nonprofit founded by the Benton family, is now helping hundreds of families access life-changing treatments!Learn more about our guest, Blake Benton:•Coming Together for a Cancer Cure: https://www.ctfac.org/•Watch The Sunshine Dreamer Documentary: https://www.ctfac.org/the-sunshine-dreamer-documentaryLearn more about the hosts:Dr. Ron Hunninghake, MD: https://riordanclinic.org/staff/ron-hunninghake-md/Interested in becoming a Patient:https://riordanclinic.org/request-an-appointment/Read the transcript:https://realhealthpodcast.orgLearn more about Riordan Clinic:https://riordanclinic.org/Thanks to This Episode's SponsorRiordan Clinic Nutrient Store: https://store.riordanclinic.org/Disclaimer: The information contained on the Real Health Podcast and the resources mentioned are for educational purposes only. They're not intended as and shall not be understood or construed as medical or health advice. The information contained on this podcast is not a substitute for medical or health advice from a professional who is aware of the facts and circumstances of your individual situation. Information provided by hosts and guests on the Real Health Podcast or the use of any products or services mentioned does not create a practitioner-patient relationship between you and any persons affiliated with this podcast.

Also - 12-year-old Alfie's story puts a spotlight on Duchenne muscular dystrophy.

Valentine’s Day represents a perfect opportunity to highlight news and updates from across biopharma that have hearts all aflutter. In this week’s episode of “The Top Line,” we do just that, fueled by heart puns and holiday candy. Fierce’s Gabrielle Masson and Andrea Park discuss a new heart-focused biotech that recently emerged with $300 million and a cardiovascular drug that’s been named one of the most anticipated launches of 2025, as well as several other stories they’ve loved covering this year. To learn more about the topics in this episode:   Kardigan launches with cozy $300M series A and collection of late-stage cardio assets Top 10 most anticipated drug launches of 2025 Cumberland's Duchenne drug improves blood flow from heart in phase 2 trial Novartis' first Super Bowl ad aims to 'create a movement' with breast cancer awareness blitz Don't call it a comeback: Pfizer returns to Super Bowl with ad pledging to 'knock out' cancer Takeda tightens reins on early-stage investments, looks to expand option deals: R&D head See omnystudio.com/listener for privacy information.

Discover the transformative power of the pivot with Andrea Miller. After her son was diagnosed with Duchenne muscular dystrophy, Andrea faced a life-altering challenge that reshaped her mindset and approach to change. Guided by her faith in God and her inspiring mantra, “Today, Not Tomorrow” (TNT), Andrea found the strength to navigate life's uncertainties with purpose and courage. In this episode, Andrea shares her remarkable journey, revealing the strategies, lessons, and moments of trial and error that helped her thrive. From asking the right questions to embracing imperfection, her insights are a masterclass in resilience and growth.Whether you're navigating a career shift, starting a new venture, or seeking the confidence to take bold steps forward, Andrea's practical advice and motivational stories will inspire you to move from feeling stuck to truly thriving.Hit play and let Andrea's story empower you to embrace change fearlessly and make the most of today.CONNECT WITH ANDREA MILLERSend us a textFor more info on IMAGINE YOURSELF, visit imagineyourselfpodcast.com. You'll find blogs, inspirational quotes and of course our podcasts!Join the conversation on our FACEBOOK, or INSTAGRAM pages. Email at imagineyourselfpodcast@gmail.com Thanks for being part of the Imagine Yourself Family! Follow or subscribe so you don't miss an episode!Imagine Yourself is hosted by Lanée Blaise and Sandy Kovach. Lanée is a TV writer and producer, motivational speaker and podcaster. Sandy is a radio personality, voiceover artist and podcaster. They come to you from the Detroit Metro area and invite guests from all over the world to help encourage you in your health, career, faith journey and more!

  It's hard to fathom why certain children receive life altering diagnoses. Pediatricians simply want to help, and that help usually comes in the form of early diagnosis. Duchenne muscular dystrophy, otherwise known as Duchenne or DMD, is the most common fatal genetic disorder diagnosed in childhood, affecting approximately one in every 5,000 live male births. Early screening and identification can mean quicker access to care, early intervention programs and special education resources. Thanks to early diagnosis and advances in care, life expectancy is increasing.  Our guest joining us to discuss diagnosing and treating DMD is Michele Yang, MD, who specializes in pediatric neurology and neuromuscular medicine at Children's Hospital Colorado. She is also an associate professor of pediatric neurology at the University of Colorado School of Medicine.  Some highlights from this episode include:  How diagnosis of DMD has changed over the years.  Understanding the new, advanced treatments that exist.  Tips and tricks for primary care providers to utilize.  Realistic outcomes for these kids with DMD.  For more information on Children's Colorado, visit: childrenscolorado.org. 

Around 30% of boys diagnosed with Duchenne muscular dystrophy also experience cognitive dysfunction and neurodevelopmental disorders like autism and ADHD. A UT Health San Antonio neuroscientist is doing research he hopes will uncover what is causing these deficits and how they might be treated.