Podcasts about Duchenne

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.

Gene therapies take center stage in this week's episode. We discuss a potential gene replacement therapy for people with Dravet Syndrome that scientists have tested in mice with good results and highlight some recent progress from two editing companies. We also break down the recent news from Sarepta about the death of a patient after treatment with its gene therapy for Duchenne muscular dystrophy. In other stories, new data reveals a nonviral method for introducing transgenes into human primates and AstraZeneca steps up R&D in China with new drug, vaccine, and healthcare partnerships in the billions of dollars.Join GEN editors Corinna Singleman, PhD, Alex Philippidis, Julianna LeMieux, 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 BaseGene Therapy Tested in Mice Offers New Hope for People with Dravet Syndrome By Uduak Thomas, GEN, March 19, 2025 DMD Patient Dies After Treatment with Sarepta Gene TherapyBy Alex Philippidis, GEN Edge, March 18, 2025 PiggyBac Transposon System Creates Transgenic Cynomolgus MonkeysBy Julianna LeMieux, PhD, GEN, March 26, 2025 From Tools to Trials: Editing Therapy Companies Pivot to DevelopmentBy Alex Philippidis, PhD, GEN Edge, March 20, 2025 AstraZeneca Commits up to $11B+ to Chinese Collaborations, Beijing R&D Hub By Alex Philippidis, PhD, GEN Edge, March 21, 2025 Hosted on Acast. See acast.com/privacy for more information.

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.

Μία συζήτηση με τη Διευθύντρια του MDA Hellas κα. Αντιγόνη Καρρά, για το ντοκιμαντέρ «Sexability: Μία Ιστορία για τη Μυϊκή Δυστροφία Duchenne και τον Έρωτα» με την ευκαιρία της προβολής του στο Φεστιβάλ Ντοκιμαντέρ Θεσσαλονίκης στο τμήμα «Ανοιχτοί Ορίζοντες». Η πρεμιέρα θα πραγματοποιηθεί την Δευτέρα 10 Μαρτίου στις 17.00 στην αίθουσα Αίθουσα Φρίντα Λιάππα, Αποθήκη Δ, Λιμάνι και online στη διαδικτυακή πλατφόρμα του Φεστιβάλ από τις 11 Μαρτίου στις 10:00 π.μ. και έως το τέλος του Φεστιβάλ ή την εξάντληση των 500 θεάσεων.Sexability: Μια ιστορία για τη Μυική Δυστροφία Duchenne και τον Έρωτα - Λίγο λόγια για το ντοκιμαντέρΤο ντοκιμαντέρ επιχειρεί να προσεγγίσει με ειλικρίνεια ένα θέμα που ακόμη θεωρείται τολμηρό: το σεξ και η αναπηρία. Η αρχική ιδέα γεννήθηκε από το MDA Ελλάς, με στόχο να ενημερώσει το κοινό για την νευρομυϊκή πάθηση Duchenne, και να αναδείξει την πραγματικότητα των ατόμων με Duchenne πέρα από την ιατρική της διάσταση, εστιάζοντας στη συναισθηματική και ερωτική τους ζωή. Το Sexability επιχειρεί να προσεγγίσει με ευθύτητα και χωρίς ταμπού τη σεξουαλική ζωή των ανάπηρων ατόμων, καθώς και να αποδομήσει στερεότυπα για την Duchenne και την αναπηρία εν γένει.Το ντοκιμαντέρ παρακολουθεί τη ζωή του Πάνου, Μέλους του MDA, ασθενή με Μυϊκή Δυστροφία Duchenne, και εστιάζει στην αναζήτηση του έρωτα, και την σχέση αναπηρίας και σεξ. Ανάμεσα στις προσωπικές του αφηγήσεις, αλλά κι αυτές της οικογένειάς του, παρεμβαίνει ο Μαρίνος, ο οποίος είναι επίσης Μέλος του MDA με Duchenne, με μία διαφορετική προσέγγιση περί έρωτα. Στο ντοκιμαντερ συμμετέχουν επαγγελματίες ειδικοί στην πάθηση, καθώς και ο πρωτοπόρος σεξουαλικός βοηθός Δημήτρης Ζώρζος.Το Sexability κάνει την Διεθνή Πρεμιέρα του στο Φεστιβάλ Θεσσαλονίκης, επιδιώκοντας να ανοίξει έναν ουσιαστικό διάλογο γύρω από την αναπηρία και το δικαίωμα στην αγάπη καθώς και τη σεξουαλική ελευθερία.ΣυντελεστέςΙδέα - Παραγωγή: MDA HellasΣκηνοθεσία: Δημήτρης ΖιβόπουλοςΑρχισυνταξία - Σενάριο: Μελπομένη ΜαραγκίδουΜοντάζ - Σενάριο: Σοφία ΣφυρήΠρωτότυπη Μουσική: Αντώνης Χατζηκωνσταντής - Βασίλης ΖαμπίκοςΤίτλοι Αρχής/Graphic Design/Αφίσα: Παναγιώτης ΠαρνασσάςΤι ειναι η Μυϊκή Δυστροφία DuchenneΗ Μυϊκή Δυστροφία Duchenne (DMD) είναι μια γενετική ασθένεια που επηρεάζει κατά μέσο όρο 1 στα 5.000 νεογέννητα αγόρια σε όλο τον κόσμο. Προκαλείται από σφάλματα στο γονίδιο της δυστροφίνης, το μακρύτερο γονίδιο στο ανθρώπινο σώμα. Τα αγόρια με DMD χάνουν σταδιακά την κινητικότητά τους, ενώ στην εφηβεία, η ασθένεια επηρεάζει τους μύες της καρδιάς και του αναπνευστικού συστήματος. Τα τελευταία χρόνια, η έρευνα έχει κάνει άλματα, δίνοντας ελπίδες στα αγόρια και τις οικογένειές τους.Λίγα λόγια για το MDA ΕλλάςΤο MDA Ελλάς ιδρύθηκε στην Αθήνα τον Ιανουάριο του 2000, με σκοπό να βελτιώσει τις συνθήκες διαβίωσης των Μελών του. Καταστατικός σκοπός του MDA είναι να προσφέρει στα Μέλη του, νέοι στην πλειοψηφία τους, δυνατότητες για την καλύτερη ένταξή τους και την ισότιμη συμμετοχή τους στην κοινωνία.Οι Νευρομυϊκές Παθήσεις αφορούν σε παθήσεις, γενετικής κυρίως προέλευσης, που πλήττουν το μυϊκό σύστημα. Η σοβαρότητα και η κλινική εικόνα μεταξύ των παθήσεων διαφέρει. Πολλές οδηγούν στη χρήση αναπηρικού αμαξιδίου ενώ άλλες όχι. Σήμερα στο MDA Ελλάς είναι εγγεγραμμένες πανελλαδικά πάνω από 1700 οικογένειες, κάποιες εκ των οποίων έχουν πλέον του ενός Μέλους που ασθενεί. Οι δράσεις του MDA Ελλάς υλοποιούνται χάρη στην ευαισθητοποίηση της ιδιωτικής πρωτοβουλίας. Για περισσότερες πληροφορίες: www.mdahellas.gr

¿Sabías que una sonrisa genuina puede escucharse en la voz? 🎙️😊 La Sonrisa Duchenne es aquella que no solo levanta los labios, sino que también ilumina los ojos. No se puede fingir, porque nace de la felicidad verdadera. Un estudio reveló que las personas que sonríen así suelen vivir más tiempo y tener relaciones más felices. 💛 Esta noche, antes de dormir, piensa en algo que te haga sonreír de verdad. Y si tus ojos brillan sin querer, enhorabuena… porque eso es felicidad. ✨ #SonrisaDuchenne #NochesBuenas #FelicidadGenuina #SonríeSiempre

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.

On this episode of Biotech Hangout hosts Brad Loncar, Eric Schmidt, Tess Cameron, Luba Greenwood, and Tim Opler, along with special guest Adam Feuerstein, kick off with a discussion on ‘zombie' biotech companies – those trading below their cash value – and whether they can be revived or should return capital to investors. The conversation then turns to Stoke's collaboration agreement with Biogen, Solid Biosciences' promising gene therapy data for Duchenne muscular dystrophy, and industry concerns over biotech fundraising practices. Other key topics include Bluebird Bios take-private acquisition, SpringWorks' potential buyout by Merck KGaA, and updates in the obesity space, including the FDA removing semaglutide from the shortage list. The group also covers BridgeBio's strong launch of Attruby, biotech M&A sentiment, and rumors of a potential Viking Therapeutics acquisition. *This episode aired on February 21, 2025.

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.

See omnystudio.com/listener for privacy information.

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.

My guest this week is Veor RFC player and Chairman - Scott Lake. Scott has done so much for the game of rugby and the community around Veor RFC in Cornwall that he was awarded the prestigious RFU Volunteer of the Year award. Shortly after that his family received the tragic news that his son, Riley had been diagnosed with the extremely rare Duchenne muscular dystrophy. The rugby family gathered and supported Scott and his family and now the annual Rugby for Riley event has become a huge event in Cornwall's calendar. This is an incredible, emotional episode - I hope you enjoy. LINKS Rugby 4 Riley - https://www.facebook.com/events/s/rugby4riley-the-finale-/1530138634531042/ Just Giving - https://www.justgiving.com/page/scott-lake-1729238579813 Rugby 4 Riley 1 - https://www.youtube.com/watch?v=QFPiTnp-uW0 Veor RFC - https://www.pitchero.com/clubs/veor/ BUY ME A COFFEE Coffee helps me make more and better episodes. https://www.buymeacoffee.com/amateurrugbypodcast PATREON Join The Amateur Rugby Podcast Patreon community for some extra amateur rugby goodness! (https://patreon.com/amateurrugbypodcast) SUPPORT If you would like to support the podcast in some way there are plenty of options on my Support the Podcast (https://www.amateurrugbypodcast.com/support/) page.

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

Send us a textThis is a newly re-edited version of one of our first episodes from almost three years ago. It has been one of our most popular episodes, and we've given it a fresh new sound.  Co-hosts Dr. Janet Price and Gregg Kaloust sat down with dear friend Chris Balch to talk about our trek to Mt. Everest Base Camp with Everest to End Duchenne to raise awareness and funds for research to find a cure for Duchenne Muscular Dystrophy. We are stll hoping for a cure. We hope you enjoy our conversation.Gregg Kaloust is writing a memoir of that trek and others he made with Chris, Everest to End Duchenne, and other friends. He is posting excerpts along with other writings on his substack at https://greggkaloust.substack.com/publish/homeYou can learn more about Duchenne and efforts to find a cure at https://everesttoendduchenne.org. There's a link there to the documentary of that first trek.Support the showConnect with Janet at https://drjanetprice.comGregg has a new substack newsletter where he's publishing writings old and new: poems, short pieces, works in progress, opinions and notes.You can email Gregg at gregg@kannoncom.com Gregg wears Tyrol pickleball shoes, the only company that makes shoes just for pickleball. He has been wearing the same pair of Velocity V model shoes for almost a year, and he plays a lot! Click here to purchase Tyrol Pickleball shoes (note, if you purchase Tyrol pickleball shoes after clicking this link Oldish may receive a commission. Thanks for helping to support our podcast!)Comments, suggestion, requests: oldish@kannoncom.comThanks to Mye Kaloustian for the music.

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma e Biotech world. Sage has rejected Biogen's unsolicited buyout offer and will seek strategic alternatives. Biogen and Eisai have received approval for a monthly maintenance regimen for Alzheimer's drug Leqembi. Veru's drug has shown promise in sparing lean mass in overweight adults on Wegovy. The Duchenne muscular dystrophy space is on the verge of a pivotal era with several companies developing investigational therapies. Akero has rebounded in a mid-stage trial, Daiichi Sankyo is optimistic for 2025, and Allakos is cutting its workforce. The text discusses the advancements in the Duchenne Muscular Dystrophy (DMD) space as it enters a pivotal era, with companies such as Capricor Therapeutics, Wave Life Sciences, and RegenxBio working on investigational therapies to address unmet needs. It also mentions Daiichi Sankyo's recent success with the approval of Astrazeneca-partnered Dato-DXD. Additionally, new treatments are in development for Achondroplasia to challenge Biomarin's Voxzogo. Novo's obesity drug shows promising results, Merck's Keytruda combo fails in a Phase III trial for GI cancer, and Tris Pharma wins late-stage for a non-opioid painkiller. The text also invites feedback from readers on topics they would like to see covered in the future.

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!

The J.P. Morgan Healthcare Conference kicked off Monday with a flood of high-value deals, reinvigorating sentiment across the biopharma industry. Johnson & Johnson made the biggest splash, acquiring neurology leader Intra-Cellular Therapies for $14.6 billion, while GSK picked up precision therapy specialist IDRx for $1B upfront and Eli Lilly laid down up to $2.5 billion for Scorpion's PI3Kα inhibitor program. Meanwhile, the immunology and inflammation space continues to fire on all cylinders as Gilead invests up to $1.7 billion for LEO Pharma's preclinical oral small molecule STAT6 program. And those are only the deals accepted by both parties. Prior to the conference, Biogen offered to acquire its struggling neuro partner Sage Therapeutics for around $469M. The proposal follows a catastrophic run for Sage, which has seen its shares fall more than 90% in the past two years. 2024 sales and earnings forecasts have also generated attention this week, with Sarepta reporting that Duchenne muscular dystrophy gene therapy Elevidys beat analysts' expectations in the fourth quarter, and Eli Lilly projecting a full-year revenue miss driven largely by lower-than-expected sales of GLP-1 blockbusters Zepbound and Mounjaro. As expected, obesity has been a hot topic at JPM, with Pfizer CEO Albert Bourla announcing that his company is going “all in” in the space. This follows new FDA guidance revealed last week recommending a minimum weight loss threshold for drug developers. Among the many companies taking notice is newcomer Verdiva Bio, which launched last week with more than $410 million in opening funds. Also debuting last week was Kardigan, which raised $300 million to tackle heart disease. Kadigan joins a resurgent cardiovascular space, where several companies—including those developing gene therapies—are targeting myriad diseases. Finally, BioSpace senior editor Annalee Armstrong caught up with Daphne Zohar, CEO of BioSpace NextGen 2025 company Seaport Therapeutics Daphne Zohar, who offered her thoughts on the current state of the neuropsychiatric space.

  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.

In this episode we discuss the recent National Society of Genetic Counselor's Practice Resource on Dystrophinopathies, which was recently published in JoGC, with two of the publications' authors. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.   Segment 1: “Genetic counseling for the dystrophinopathies- Practice resource of the National Society of Genetic Counselors”   Ann Martin, MS, CGC is a board certified genetic counselor with Parent Project Muscular Dystrophy (PPMD). Ann serves as the VP of Community Research and Genetic Services and manages a team of genetic counselors who coordinate all aspects of The Duchenne Registry and the Decode Duchenne genetic testing program. Since joining PPMD in 2011, Ann has been directly involved in all aspects of the Registry programs including collection and curation of the Registry data, clinical trial and research study recruitment, data exports, patient and family inquiries, genetic testing, and educational content on the PPMD websites. Ann represents The Duchenne Registry on TREAT-NMD's Global Data Oversight Committee, which is responsible for reviewing requests for data from the TREAT-NMD Global Registries, and serves as the DMD Subgroup Co-Lead. In addition, Ann has been a member of Sarepta Therapeutics' Advisory Board for Early Diagnosis of Duchenne since 2022. Ann is continually engaging and educating both the patient and professional community about the Registry and Duchenne and Becker research. Before joining PPMD, Ann worked as a clinical genetic counselor for 15 years at Carolinas Medical Center in Charlotte, NC, where she provided genetic counseling for pediatric and adult patients with a wide range of genetic disorders. Ann is a graduate of the University of Cincinnati Genetic Counseling Graduate Program. She is board-certified by the American Board of Genetic Counseling and is a member of the National Society of Genetic Counselors. Angela Pickart (she/her) is a licensed, certified genetic counselor practicing in the Genomics Laboratory at Mayo Clinic, performing variant interpretation, report writing and test development for neurogenetics assays. She received her Master of Science degree in Genetic Counseling at the University of Minnesota and has extensive clinical experience in pediatric, neurology, and oncology genetic counseling prior to transitioning to her laboratory role. She has been awarded the academic rank of Assistant Professor of Laboratory Medicine at the Mayo Clinic College of Medicine and Science where she serves as course co-director of the Center for Clinical and Translational Sciences Molecular Variant Evaluation Course. She is also the course co-director of the Laboratory Practicum for the Medical College of Wisconsin Master of Science Genetic Counseling Graduate Program and Adjunct Assistant Professor of the Medical College of Wisconsin School of Graduate Studies.   In this segment we discuss: - Origins and significance of the genetic counseling-specific practice resource for dystrophinopathies. - Changes in the treatment landscape due to FDA-approved therapeutics and ongoing clinical trials for dystrophinopathies. - Strategies for educating patients and families about the implications of genetic testing and diagnosis in dystrophinopathies. - Advocacy roles of genetic counselors in helping patients access the latest therapies and participate in clinical trials for DMD/BMD. - Importance of interdisciplinary collaboration in managing dystrophinopathies and the roles genetic counselors play within these teams. - Potential broader impact of the practice resource on the medical field and patient community.    Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors. Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.  For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.  Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.  DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.

Good morning from Pharma and Biotech Daily: the podcast that gives you only what's important to hear in Pharma and Biotech world. Danish regulators have raised concerns about a rare eye disease associated with Novo Nordisk's GLP-1 drug, Ozempic, prompting a request for a formal EU review. The FTC has approved Novo Holdings' acquisition of Catalent, allowing the deal to proceed. Bristol Myers Squibb is aiming to reduce costs by $1.5 billion by 2025, while PepGen is facing an FDA hold on its Duchenne muscular dystrophy treatment trial. Intelligencia AI's accurate pre-ASH predictions for biotechs demonstrate the reliability of their AI methodology.In other news, there are advancements in molecular glue degraders, AbbVie continues its deal-making spree, Novo Nordisk reaffirms its commitment to a rare disease production facility, and there are ongoing challenges with drugs targeting the amyloid hypothesis. Layoffs at Editas and FDA approvals for Neurocrine and Checkpoint are also making headlines.

The latest episode of the DDW Highlights podcast is now available to listen to. DDW's Megan Thomas narrates five key stories of the week to keep DDW subscribers up-to-date on the latest industry updates. This week's leading news stories all feature early-stage clinical trials, including a short interfering RNA for cardiovascular disease, a new type of drug for type 2 diabetes, a gene therapy for Duchenne muscular dystrophy, a T cell therapy for hepatitis B, and a monoclonal antibody to prevent respiratory syncytial virus. You can listen below, or find The Drug Discovery World Podcast on Spotify, Google Play and Apple Podcasts. 

Join us each week as we do a quick review of three compelling stories from the pharma world — one good, one bad and one ugly. Up this week:   The good — FDA grants Regenxbio accelerated approval pathway for Duchenne gene therapy The bad —  Neurogene reports patient death in Rett syndrome gene therapy trial The ugly —  Halozyme withdraws acquisition proposal for Evotec

Leitura bíblica do dia: Apocalipse 21:1-8 Plano de leitura anual: Ezequiel 24-26, 1 Pedro 2 Já fez seu devocional hoje? Aproveite e marque um amigo para fazer junto com você! Confira: Aos quatro anos, Sandro foi diagnosticado como portador de Distrofia Muscular de Duchenne, uma doença progressiva e degenerativa dos músculos. Um ano depois, os médicos discutiram sobre o uso de cadeiras de rodas, mas o garoto resistiu ao uso. Os familiares e amigos oraram por ele e arrecadaram fundos para treinar um cão de serviço para mantê-lo fora da cadeira de rodas o máximo de tempo possível. A organização Tails for Life, que treinou o meu cão de serviço, Callie, está treinando o Panqueca para servir ao Sandro. Embora Sandro aceite o seu tratamento e muitas vezes cante louvores a Deus, alguns dias são mais difíceis. Num desses dias difíceis, Sandro abraçou sua mãe e disse: “Estou feliz por não haver essa distrofia no Céu”. Os efeitos degenerativos das doenças afetam todas as pessoas deste lado da eternidade. Como Sandro, porém, temos uma esperança duradoura a qual pode fortalecer a nossa determinação nos dias inevitáveis e difíceis. Deus nos dá a promessa de “um novo céu e uma nova terra” (Apocalipse 21:1). Nosso Criador e Sustentador “habitará” entre nós, fará Sua morada entre nós (v.3). Ele “enxugará cada lágrima” de nossos olhos, e “não haverá mais morte, nem tristeza, nem choro, nem dor” (v.4). Quando a espera parecer muito dura ou demorada, podemos experimentar a paz, pois a promessa de Deus se cumprirá. Por: Xochitl Dixon

Genethon, the non-profit gene therapy developer created by the patient association AFM-Telethon, began working with Sarepta Therapeutics in 2017 to develop a gene therapy for the rare neuromuscular condition Duchenne muscular dystrophy. Now that Sarepta has won approval for a separate gene therapy to treat the condition, Genethon is advancing development of its experimental gene therapy on its own. We spoke to Frederic Revah, CEO of Genethon, about Duchenne, the organization's efforts to complete clinical development of its gene therapy for the condition, and how it might commercialize the treatment.

The latest part of the Covid inquiry, which looks at the impact of the pandemic on the NHS, has heard powerful evidence from disabled people and their relatives for the first time. BBC Health Reporter Jim Reed — who presents The Covid Inquiry Podcast — shares some of the most poignant testimony that has been shared so far. Emma Tracey also hears from Rachael Andrews, who is partially sighted and has fibromyalgia, and Lisa Burke, whose son Seth has Duchenne muscular dystrophy about how their lives have been severely impacted by the pandemic. We also hear from roving reporter Ben Morris who has been to Belgium to learn more about some clever AI solutions for wheelchair users. Presenter: Emma Tracey Producers: Daniel Gordon, Alex Collins Audio recording and mixing: Dave O'Neill Editor: Beth Rose

To his “real” family, Mats Steen was a loving brother and son, rather shy and reserved; to his World of Warcraft family, Mats — known by his avatar Ibelin Redmoore — was bold, outgoing, and something of a ladies' man. Both families were devastated by Mats' tragic passing from Duchenne muscular dystrophy when he was only in his mid-20s. In his deeply moving, brilliantly constructed new Netflix documentary “The Remarkable Life of Ibelin,” director Benjamin Ree (“The Painter and the Thief”, “Magnus”) illuminates all aspects of Mats' life in a profound way that neither of his families could possibly have imagined.   Benjamin joins Ken on the pod to discuss his own remarkable creative journey as he set out to give full measure to Mats' story — both in real life and inside the World of Warcraft universe. How did Benjamin animate the 42,000 pages of texts from the game to recreate Ibelin's adventures and relationships within the World of Warcraft community that he was a part of? In what ways was telling this film comparable to writing a symphony, with its innovative, repetitive structure building over time? And, finally, what has been the startling and legacy of Mat's life on those who knew him and on the thousands of gamers who never met him? There's no avatar for that kind of impact.   “The Remarkable Life of Ibelin” is streaming on Netflix.   Follow: @benjaminree_ on Instagram and @Benjamin_Ree on X @topdocspod on Instagram and X   Hidden Gems: “Brothers” “The Overnighters” “The Arbor”   The Presenting Sponsor of "Top Docs" is Netflix.

We are coming to you today with a special update from one of our most popular guests. We've talked to Tonya Dreher before and she is one of the most adventurous and genuine people that I know. If you haven't heard her before, I encourage you to listen to her other episodes after you listen to this one - you don't need to listen to them in order. I promise you it'll be worth your time! We recorded this episode with Tonya a few months ago when she was back in Nepal focusing on her work in the muscular dystrophy community. She is heading back to Nepal again soon -- working diligently to bring care to children who go without even the basics. We are so so lucky to witness her creativity and her determination. She is literally changing the world one family at a time.

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma and Biotech world.AbbVie has acquired Aliada Therapeutics for $1.4 billion, gaining access to a phase I anti-amyloid antibody and a novel platform for efficient blood-brain barrier transport. Meanwhile, the FDA's accelerated approval program is facing setbacks as therapies for rare and neurological diseases earn accelerated approval but are later withdrawn from the market. Novartis has signed a potential $2.2 billion deal with Monte Rosa for molecular glue degraders targeting Vav1, while Biogen and Vertex have presented mid-stage readouts for iga nephropathy treatments. Analysts are optimistic about the potential of these treatments in the autoimmune disorder space. Sarepta's recent presentations on elevidys for Duchenne leave the community wanting more, while Revolution Medicines targets hard-to-treat pancreatic cancer with early-phase readouts. Iterum has won FDA approval for an oral UTI antibiotic and is seeking strategic transactions for the asset. Overall, new therapies are set to revolutionize treatment for genetic disorders like AATD.

It's a question as old as time: who ya gonna call? And an equally aged answer: Ghostbusters! Or, in the case of this week's Empire Podcast, a Ghostbuster. But not just any Ghostbuster — the heart of the Ghostbusters, and co-creator of the franchise, the legendary Dan Aykroyd, who jumps on the blower with Chris Hewitt to talk about the Ghostbusters In Concert show at the Royal Albert Hall, webbed feet, and writing one of the greatest comedies of all time. [21:55 - 41:32 approx] Our other guest this week is Benjamin Ree, the director of the extraordinarily moving documentary The Remarkable Life of Ibelin, which tells the incredible story of a young Norwegian man with Duchenne muscular dystrophy, and the second life he created for himself within World Of Warcraft. [1:11:29 - 1:28:29 approx] Either side of those, Chris is joined in the podbooth by Helen O'Hara and James Dyer for the final spooky Halloweenified pod of the year. Don't worry, though, it's not that scary, as they discuss the best non-horror films made by horror filmmakers, review The Remarkable Life of Ibelin, Venom: The Last Dance, Brothers, and The Room Next Door, and chew the fat over the week's movie news, including a wild bit of speculation about Christopher Nolan's latest movie. Oh, and who — or what — is Spiky Mike? Enjoy.

In this explainer episode, we've asked Nicole Chai, Research and Development Bioinformatician at Genomics England, to explain what X-linked inheritance is. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you've got any questions, or have any other topics you'd like us to explain, feel free to contact us on info@genomicsengland.co.uk. You can read the transcript below or download it here: https://www.genomicsengland.co.uk/assets/documents/Podcast-transcripts/How-does-X-linked-inheritance-work.docx  Florence: How does X-linked inheritance work? I'm joined by Nicole Chai, Research and Development Bioinformatician for Genomics England, to find out more. So firstly, Nicole, can you explain a bit about the X and Y chromosomes?   Nicole: Sure. So, the X and Y chromosomes are what we call sex chromosomes. And chromosomes are packages of DNA in our cells that are inherited from our parents, and they contain information about our physical and biological traits.  Some examples of traits that are determined by our chromosomes include what colour our hair is and what colour our eyes are. And each of these individual traits are determined by smaller sections on the chromosome called genes. Genes can also determine what medical conditions we may inherit from our parents.  As humans, we all typically have 23 pairs of chromosomes in each of our cells. One of these pairs consists of the sex chromosomes, and as their name suggests, sex chromosomes determine sex of an individual. And typically, females will have two X chromosomes and males will have one X and one Y chromosome.  Florence: So then, what do we mean by the term X-linked condition?  Nicole: So, an X-linked condition means that the condition is associated with genetic changes on the X chromosome. And what we mean when we say genetic changes are changes to the normal sequence of DNA on the gene. And this can sometimes lead to medical disorders.  Florence: Do you have a specific example of an X-linked condition?   Nicole: Sure. So, an example of an X-linked condition is Duchenne muscular dystrophy.  And with this condition you get a progressive loss of muscle due to the lack of a protein known as dystrophin. Another example of an X-linked condition is red-green colour blindness. And this is where people affected with the condition can't see shades of red and green the way most people see them.   Florence: Could you explain how X-linked conditions are inherited?   Nicole: Sure. So, for many conditions, there are two ways they can be inherited, either dominantly or recessively. Dominant inheritance is usually when you just need one copy of the gene to be affected by the condition, whereas recessive inheritance is when you need two copies of the gene to be affected by the condition.  However, this works slightly differently with X-linked conditions, and most X-linked conditions are inherited recessively.  Florence: So why does inheritance work differently for X-linked conditions?  Nicole: So the reason that inheritance works differently for X-linked conditions is down to the differences between sex chromosomes, between females and males. As females have two X chromosomes and males have X and Y, this means that for recessive excellent conditions, males only need one altered gene to have the condition.  So, because males only have one X chromosome, if they inherit a faulty copy of a recessive gene, they don't have another healthy copy to compensate.  On the other hand, as females have two X chromosomes, if they inherit just one faulty copy, they do have a healthy one that can compensate for that one. So as a result, what we tend to see is that males are more commonly affected by X-linked recessive conditions.  Florence: That was Nicole Chai explaining the term X-linked inheritance. If you'd like to hear more explainer episodes like this, you can find them on our website www.genomicsengland.co.uk. Thank you for listening. 

Talk to Your Pharmacist Podcast Interview - Danielle Vizcaino and Hillary BlackburnDanielle Vizcaino, President and CEO of The Assistance Fund (TAF), discussed the organization's role in providing financial assistance to patients facing high medical out-of-pocket costs. TAF, founded in 2009, has helped over 190,000 people, including 40,070 in 2023, with nearly 100 disease-specific programs. Vizcaino highlighted the importance of patient referrals and the unique features of TAF, such as year-long assistance and no cap on annual assistance. She emphasized the need for continued support and awareness, especially for rare diseases like Duchenne muscular dystrophy and hypophosphatasia. Vizcaino also shared her journey from molecular biology to healthcare administration and her commitment to improving healthcare accessibility.Introduction and Background of Danielle VizcainoHillary Blackburn welcomes Danielle Vizcaino and asks her to introduce herself and fill in any gaps in the intro.Danielle Vizcaino confirms her last name pronunciation and mentions the proposed items from Mark Meyer.Hillary Blackburn mentions she received the outline late due to being on vacation and will add it to her info.Danielle Vizcaino asks if she should be on camera; Hillary Blackburn mentions she hasn't done video yet but is open to it.Overview of The Assistance Fund (TAF)Hillary Blackburn introduces Danielle Vizcaino as President and CEO of The Assistance Fund (TAF) and provides a brief overview of the organization.Danielle Vizcaino shares her passion for healthcare from a young age and her educational background in molecular biology, microbiology, MPH, and MBA.She details her career path, including roles in mycobacteriology, healthcare administration, and her transition to TAF in 2016.Danielle Vizcaino shares a personal discovery about being a carrier of a rare disease, which deepened her commitment to improving healthcare accessibility.Details About The Assistance Fund (TAF)Danielle Vizcaino provides an introduction to TAF, explaining its role in helping patients and families with high medical out-of-pocket costs.She highlights TAF's 100 disease-specific programs and their impact, including helping over 190,000 people since 2009.Danielle Vizcaino mentions that in 2023, TAF helped 40,070 people, with many receiving year-after-year assistance due to genetic conditions.She discusses the importance of TAF's assistance, especially for insured patients with high-cost medical conditions.Danielle Vizcaino's Career Path and TAF's MissionHillary Blackburn asks Danielle Vizcaino about her path to becoming CEO of TAF and how she transitioned from molecular biology to nonprofit work.Danielle Vizcaino explains her initial interest in medicine and her shift towards healthcare administration and public health.She describes her experience with TAF, including building departments and infrastructure, and her eventual promotion to CEO in 2023.Danielle Vizcaino emphasizes the importance of TAF's mission and her gratitude for the opportunity to lead such a passionate team.TAF's Role and Impact in the Healthcare EcosystemHillary Blackburn and Danielle Vizcaino discuss the importance of TAF in helping insured patients access necessary treatments.Danielle Vizcaino explains the difference between independent charitable patient assistance organizations and manufacturer patient assistance programs.She highlights TAF's unique features, such as offering assistance for the entire calendar year and the importance of patient referrals.Danielle Vizcaino provides details on how patients can qualify for TAF assistance, including eligibility requirements and the importance of checking the website for new programs.Common Diseases and TAF's SupportHillary Blackburn asks about the most common diseases TAF supports, and Danielle Vizcaino mentions rare diseases, oncology, immunology, and respiratory conditions.Danielle Vizcaino shares specific examples of rare diseases TAF helps with, such as Duchenne muscular dystrophy and hypophosphatasia.She discusses the importance of TAF's support for patients with life-changing diseases and the role of donors in funding these efforts.Danielle Vizcaino encourages individuals to check TAF's website for new programs and to continue monitoring for new opportunities for assistance.Founding Story and Funding of TAFHillary Blackburn asks about TAF's founding story and how the organization supports patients across the country.Danielle Vizcaino explains that TAF was founded in 2009 by specialty pharmacists who recognized a need in the space.She highlights TAF's growth from a small organization to one with over 100 programs and close to 300 million in support.Danielle Vizcaino discusses TAF's individual philanthropy arm and the importance of corporate and individual funding for their programs.Advice for Aspiring Leaders and PharmacistsHillary Blackburn asks Danielle Vizcaino for advice for pharmacists and aspiring leaders in the healthcare field.Danielle Vizcaino emphasizes the importance of perseverance and commitment to making a difference in the community.She shares her own journey and the opportunities that arose from her passion and dedication to healthcare.Danielle Vizcaino encourages others to keep pushing forward and to look for opportunities to make an impact in the healthcare ecosystem.Conclusion and Closing RemarksHillary Blackburn thanks Danielle Vizcaino for sharing more about TAF and for being a guest on the podcast.Danielle Vizcaino expresses her appreciation for the opportunity to share TAF's story and mission.Guest - Danielle Vizcaino Facebook: https://www.facebook.com/AssistanceFund Instagram: https://www.instagram.com/theassistancefund/ LinkedIn: https://www.linkedin.com/company/the-assistance-fund/ Threads: https://www.threads.net/@theassistancefund YouTube: https://www.youtube.com/channel/UC-rJY98PFtKyMCBpdYpzDEQ Website: https://tafcares.org/ Host - Hillary Blackburn, PharmD, MBAwww.hillaryblackburn.comhttps://www.linkedin.com/in/hillary-blackburn-67a92421/ 

In this heartfelt episode, we start off with an update on Julie as shares an update on her TTC journey and making the decision to start IVF as she navigates carrying the high risk Duchenne muscular dystrophy gene. She dives into the emotional ups and downs that come with the process. ...then the meat & potatoes of this episode is about our BIRTH PLAN WISHES for giving birth in hospitals with a doula. This is an important distinction because if you are planning to give birth at home or in a birth center, your birth wishes may or may not look different. If you're giving birth in the future and need some inspiration, this episode is perfect for you!! TOPICS DISCUSSED →Julie's fertility fears with carrying the family gene DMD →Julie's IVF update to navigate the passing down of the gene: challenges, hopes, and progress →Fertility treatments and emotional resilience →Holistic birth plan ideas for hospitals →How support systems can make a difference during birth →The impact of mindset on fertility and pregnancy →Balancing birth wishes with medical advice →Practical tips for advocating for your birth plan Trigger Warning: In the beginning of the episode, Julie delves into the sensitive topic of utilizing modern science, including IVF, to prevent the inheritance of the Duchenne muscular dystrophy gene in our family. Our conversation is deeply rooted in the compassion we hold for our relatives affected by this devastating disease, such as our beloved cousin and uncle. We acknowledge that opinions on IVF and scientific interventions can differ, and we kindly ask listeners with opposing views to respect Julie's decision. It is her body, her life, and her family's journey. We aim to cultivate an environment where all choices are respected, and we hope for mutual respect for our decisions as well. Thank you for engaging with an open heart. EPISODE RESOURCES

Over the past five years, Elliot Caswell has let the BBC follow him as he searched for his first job after leaving college, but so far he's faced nothing but barriers.That frustration has coincided with the publication of a House of Lords report into how the transition from education to work could be improved for young disabled people. Stephen Veevers, CEO of HFT, an organisation which helps disabled people prepare for employment, gives his thoughts on the report and offers some success stories too.Plus, when Norwegian gamer Mats Steen died aged 25 his parents feared their son had lived a lonely life as a result of Duchenne muscular dystrophy. But, when they posted a final update on his blog they were inundated with messages.Mats, it turned out, had lived a full and vibrant life online. Emma speaks with his parents – Trude and Robert – and two of his online friends - Xenia and her autistic son Mikkel - who learned to connect with each other with Mats's help. Now a Netflix movie is set to be released on 25 October, about Mat's extraordinary, hidden life.Presented by Emma Tracey Produced by Daniel Gordon and Emma Tracey Edited by Beth Rose

Fake smiles aren't just bad for Instagram. They're bad for your reputation. That's the implication of a new study — with clear consequences for LinkedIn... and maybe your life? (Also, come with us to see Europe's 'answer to ChatGPT.')

In this episode, we review the high-yield topic of Duchenne and Becker Muscular Dystrophy ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠from the Neurology section at ⁠⁠⁠Medbullets.com⁠⁠⁠ Follow ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets Linkedin: https://www.linkedin.com/company/medbullets

La sonrisa de Duchenne es un tipo de sonrisa genuina que no solo implica los labios, sino también los músculos alrededor de los ojos. Esta sonrisa es clave en la práctica de la "sonrisa interior", la cual se recomienda para mejorar nuestro estado de ánimo y actitud ante la vida. Al activar esta sonrisa, se genera un impacto positivo tanto a nivel emocional como físico, ayudando a afrontar las situaciones con una mentalidad más positiva. Incorporar la sonrisa de Duchenne en el día a día, más allá de las sesiones de meditación, puede predisponer la mente y el cuerpo hacia una actitud más optimista. Mantener el rostro relajado durante esta práctica favorece aún más el bienestar emocional. Por lo tanto, no se trata solo de sonreír en momentos puntuales, sino de cultivar esta sonrisa constantemente para potenciar sus beneficios. La famosa reflexión "¿Ríe porque está feliz o está feliz porque ríe?" nos recuerda la conexión entre el cuerpo y la mente. El simple acto de sonreír, especialmente si es una sonrisa genuina, puede influir en nuestro estado de ánimo. Adoptarla de forma voluntaria no solo puede mejorar cómo nos sentimos, sino también cómo enfrentamos los retos cotidianos.

Our guest this week is Nate Plasman of Lombard, IL, a vice president at family owned Monroe Transportation and father of three, including a son with a rare genetic disease.Nate and his wife, Sara, have been married for 20 years and are the proud parents of three children: Grace (15), Jackson (12) and Andrew (10) who has Duchenne Muscular Dystrophy, a progressive and severe muscle-wasting condition that typically results in premature death.Duchenne impacts around 15,000 individuals in the United States, predominantly males, and over 300,000 globally. It is a condition that transcends cultural, economic, and social lines, affecting families worldwide.We learn about a host of organizations seeking cures and improving the lives of those living with muscular dystrophy, including; Parent Project MD, Cure Duchenne and Serepta Therapeutics. It'a an uplifting story about faith, family and overcoming adversity all on this episode of the SFN Dad to Dad Podcast. Show NotesPhone – (630) 248-3220Email - nate@monroe-trans.comLinkedIn - https://www.linkedin.com/in/nathan-plasman-0a050149/Facebook - https://www.facebook.com/nathan.plasman/friendsMonroe Transportation – https://monroe-trans.com/Parent Project MD - https://www.parentprojectmd.org/Cure Duchenne - https://cureduchenne.org/Serepta Therapeutics - https://www.sarepta.com/Special Fathers Network - SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 800+ SFN Mentor Fathers, who are raising kids with special needs, have said: "I wish there was something like this when we first received our child's diagnosis. I felt so isolated.  There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through."SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations.Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channel/UCzDFCvQimWNEb158ll6Q4cA/videosPlease support the SFN. Click here to donate: https://21stcenturydads.org/donate/Special Fathers Network: https://21stcenturydads.org/  

Join us for a fantastic conversation with an expert in the field of neuromuscular disorders, Dr. Kevin Flanigan. Dr. Flanigan is the director of the Center for Gene Therapy at Nationwide Children's Hospitals, which developed the first FDA-approved gene therapy to treat Duchenne Muscular Dystrophy. He teaches us when to include muscular dystrophy in the differential, how BiPAP extends the lives of patients with Duchenne, and what the latest gene replacement therapies have to offer.