Shows
Rare on AirTomasz Grybek on patient involvement and making lived experience count in regulatory decisionsIn this episode of Rare on Air, host Julien Poulain speaks with Tomasz Grybek, a Polish economist, rare disease advocate, and father to a teenage son living with metachromatic leukodystrophy (MLD), a progressive and life-limiting condition.Tomasz recounts the difficult path to accessing treatment for his son Borys, and how that experience led him into patient advocacy - first at the national level, and eventually as a patient representative on the Paediatric Committee of the European Medicines Agency.He reflects on why patient engagement must go beyond token consultation, and explains why voting rights in...
2025-07-0335 minRare on AirNick Sireau on patient-driven scientific breakthroughs and drug repurposingIn this episode of Rare on Air, host Julien Poulain speaks with Nick Sireau, CEO of the AKU Society and father to two sons living with alkaptonuria. Nick shares how his son’s unexpected diagnosis led him to become a leading advocate for rare diseases and a pioneer in drug repurposing. Nick recounts how a molecule once destined to be a weedkiller became a treatment for AKU, and reflects on the broader promise and challenges of repurposing approved therapies for different rare conditions. Join the conversation using #EurordisRareOnAir or contact the podcast at RareOnAir@eurordis.or...
2025-04-0133 min
Rare 5, Rare Spotlights: Explorando enfermedades raras en 5 minutos28 de febrero, día mundial de las enfermedades rarasHoy es el día y la razón de ser de nuestro podcast Rare 5, Rare Spotlights; Explorando Enfermedades Raras en 5 minutos. Para hablar del Día Mundial de las Enfermedades Raras recordaremos la entrevista realizada a la Dra. Claudia Gonzaga Jáuregui, Investigadora principal en el Laboratorio Internacional de Investigación en el Genoma Humano de la Universidad Nacional Autónoma de México (UNAM) en Juriquilla, Querétaro. La Dra. Gonzaga Jáuregui es originaria de la Ciudad de México. Estudió la Licenciatura en Ciencias Genómicas (LCG) de la UNAM. Posteriormente realizó sus estudios de doctorado en...
2025-02-2805 min
Rare on AirRare Disease Day: Noah's storyIn this Rare on Air Stories bonus episode marking Rare Disease Day, we share Noah’s journey from the United States.Diagnosed with Meesmann Corneal Dystrophy, a rare genetic eye condition, Noah endures chronic pain and vision challenges. Misdiagnosed and misunderstood for years, he faced immense physical pain and emotional battles, struggling to find medical professionals who understood his condition.Noah’s determination led him to an accurate diagnosis of Ocular Neuropathic Pain Syndrome. Now, he is an advocate for better awareness of invisible disabilities, and he hopes to bring about positive change for those with...
2025-02-2608 min
Rare on AirRare Disease Day: Eden's storyIn this Rare on Air Stories bonus episode marking Rare Disease Day, we share the story of Eden from the UK.Diagnosed as a baby with CMTC (Cutis Marmorata Telangiectatica Congenita), Eden faced challenges with social stigma and self-acceptance due to her marbled skin markings. With her parents’ support and a shift in perspective, she embraced her uniqueness and found strength beyond her appearance. Today, she channels her creativity into filmmaking, using storytelling to inspire others and raise awareness for rare diseases. Eden’s journey is a testament to self-worth, resilience, and the power of embracing what make...
2025-02-1903 min
Rare on AirRare Disease Day: Huy's storyIn this episode of our Rare on Air Stories bonus series marking Rare Disease Day, we meet Do Phuoc Huy from Vietnam, who has lived with an undiagnosed rare condition for 17 years. Initially misdiagnosed and misunderstood, his condition causes sudden collapses and long recoveries, creating immense physical and emotional challenges.Despite his condition, Huy’s determination led him to become a medical doctor and found theVietnamese Organisation for Rare Diseases. With the unwavering support of his mother and wife, he turned personal struggles into advocacy, offering hope and support to others living with rare diseases.Vi...
2025-02-1204 min
lichterStimmenSelten? Was nun?Am letzten Tag des Februars (der 29. Februar ist ein seltener Tag!) hat EURORDIS, die Europäische Organisation für Seltene Erkrankungen, 2008 den Tag der seltenen Erkrankungen ins Leben gerufen. Er soll auf all die vielen seltenen Erkrankungen, die es gibt, und auf die in vielerlei Hinsicht benachteiligten Betroffenen aufmerksam machen. In dieser Folge werfen Pascale und Malin einen Blick darauf, wie diese Nachteile aussehen und wie sie konkret die Gesundheit und den Alltag beeinflussen. Sie diskutieren Themen wie die lange Dauer bis zur richtigen Diagnose, den Mangel an spezialisierten Ärzten, den Umgang mit Behörden und bieten Tipp...
2025-02-1019 min
Rare on AirRare Disease Day: Sushmita's storyIn this episode of our Rare on Air Stories bonus series marking Rare Disease Day, we share Sushmita’s powerful journey with Amelogenesis Imperfecta (AI), a rare genetic condition affecting the development of tooth enamel. Growing up, Sushmita faced social stigma, judgment, and painful dental treatments, but her father’s encouraging words helped her turn adversity into purpose.Today, Sushmita is an advocate for AI awareness, sharing her story through blogs and presentations at medical seminars. Her journey reminds us that kindness and understanding can make a lasting impact on the lives of those with rare conditions.
2025-02-0603 min
Rare on AirRare Disease Day: Sophia's storyIn this Rare on Air Stories bonus episode marking Rare Disease Day, we share the story of Sophia, who lives with a rare RARB gene mutation. Due to the unavailability of genetic testing, her diagnosis was delayed until age seven, following years of uncertainty about her cerebral palsy and vision impairments.
With the support of specialists, her family identified treatments that have helped improve her cognition and speech. Now in high school, Sophia’s journey has inspired A Cure for Sophia and Friends, a family-led initiative connecting others with RARB mutations and supporting research into this ultra-rare co...
2025-01-2903 min
Rare on AirRare Disease Day: Khim's storyIn this episode of our bonus series marking Rare Disease Day, we share the inspiring story of Khim Bahadur. When Khim's son, Animesh, was diagnosed with Osteogenesis Imperfecta (OI), he encountered a daunting lack of resources and awareness in Nepal. Undeterred, Khim sought global support, securing life-changing treatment abroad for Animesh and becoming a trailblazer for OI advocacy in Nepal. Through education, media campaigns, and community building, Khim continues to drive rare disease awareness and inspire others across the nation.
Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.
2025-01-1505 min
Rare on AirRare Disease Day: Fatimah's storyIn this episode of our bonus series marking Rare Disease Day, we share Fatimah’s story, a journey marked by misdiagnosis, various treatments, and the mystery of Muscular Dystrophy.
Despite her daily challenges, Fatimah remains positive and deeply grateful for her support system. Her strength shines through as she hopes for a brighter future for everyone living with Muscular Dystrophy.
Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.
2025-01-0204 minRare on AirJulián Isla on how AI can revolutionise rare disease healthcareIn this episode of Rare on Air, host Julien Poulain speaks with Julián Isla, a rare disease advocate, artificial intelligence expert, and father to a son with Dravet syndrome.
Julián shares his journey from navigating the challenges of his son Sergio’s diagnosis to co-founding Foundation 29 - a non-profit harnessing the power of artificial intelligence to revolutionise rare disease care.
He explains how AI tools like Foundation 29’s DxGPT are transforming diagnostics by delivering faster and more accurate results, offering a lifeline to clinicians and patients alike. Drawing on real-world examples, Julián reflect...
2024-12-1929 min
Rare on AirRare Disease Day: Emma and Nellie's storyRare diseases don’t just impact individuals; they also shape the lives of families and loved ones. In this episode of our bonus podcast series marking Rare Disease Day, we share Emma’s story about raising Nellie, her daughter who remains undiagnosed. From emotional challenges to everyday realities, it’s a moving story of resilience, love, and acceptance.
Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.
2024-12-1803 min
Not Just Patients[LIVE] The Advocacy Life | Danielle Drachmann and Sumaira AhmedJoin us for this special (unedited) recording of Not Just Patients, which was streamed LIVE on LinkedIn!To celebrate our 10th episode, we were joined by two incredibly inspiring advocates, Danielle Drachmann and Sumaira Ahmed. Listen to this uplifting, raw, and real conversation as these two amazing women share how they turned their adversity into advocacy, and the unspoken realities of their deeply personal work.About our guests: Danielle Drachmann is a recipient of the 2022 Young Patient Advocate Award at the Black Pearl Awards, and Executive Director at Ketotic Hypoglycemia International. As a r...
2024-12-161h 24
Rare on AirRare Disease Day: David's storyThis episode of our bonus podcast series marking Rare Disease Day features the story of David, who is living with Stiff Person Syndrome. It explores David’s experience of having no definitive diagnosis – the feelings of uncertainty, frustration and depression this comes with as well as the physical effects of a rare disease.
However, David’s story inspires a message of perseverance and hope that he likens to climbing a mountain. Listen in to hear about how this disability changed David’s life and attitude.
Visit rarediseaseday.org to share your story or get involved. Rare Disease Day...
2024-12-0603 min
Rare on AirERNs on Air: JARDIN - The Joint Action integrating ERNs into national health systemsIn the final ERNs on Air episode of 2024, Ines Hernando (ERN and Healthcare Director) is joined by Dorica Dan (President of the Romanian Rare Disease National Alliance and patient lead in ERN ITHACA) and Cesar Hernandez Garcia (Director General at the Spanish Ministry of Health) to discuss the JARDIN project, which aims to integrate European Reference Networks (ERNs) into national healthcare systems across Europe. Listen now for an exploration of the value of ERNs in enhancing national-level care, as well as the challenges and opportunities of this Joint Action.
2024-12-0519 minRare on AirKelly du Plessis on fighting for her son and rare disease advocacy in South AfricaTo mark the start of November's 100-day countdown to Rare Disease Day 2025, the global awareness day taking place on 28 February 2025, host Julien Poulain ventures beyond Europe to speak with Kelly du Plessis, Chief Executive Officer and Founder of Rare Diseases South Africa, and mother to a teenage son living with Pompe disease.
Kelly shares with Julien her extraordinary journey, from her son’s diagnosis at just 11 months old to securing a life-saving treatment only 10 days later. She reflects on the formidable barriers she faced in accessing this treatment, the relentless determination required to overcome them, and how th...
2024-11-2829 min
Rare on AirRare Disease Day: Dani's storyThis episode of our bonus series marking Rare Disease Day features Dani who lives with progressive fibrodysplasia ossificans (PFO). You will hear about her journey from the moment she was born to when she was 16 years old and found a lump on her back. Dani explores the problem of misdiagnosis and her journey with FOP.
Join Dani as she tells a story of frustration, overwhelming change and finally acceptance. Her story is a symbol of resilience as she shows that no obstacle is impossible to overcome with support and love from each other.
Visit rarediseaseday.org...
2024-11-2005 minRare on AirMiriam Wilms on navigating rare disease healthcare as both a mother and a specialist surgeonIn this episode of EURORDIS Rare on Air, host Julien Poulain speaks with Dr. Miriam Wilms, a visceral surgeon, proctologist, and mother whose son was born with a rare anorectal malformation. Miriam shares the early challenges her family faced within Germany’s decentralised healthcare system, from securing specialised surgeries for her son to coordinating his long-term care needs.
As an advocate with SoMA, a German organisation supporting families impacted by anorectal malformations, Hirschsprung's disease, and cloacal exstrophy, Miriam discusses how her dual roles as a parent and medical professional have uniquely shaped her perspective on rare disease ca...
2024-10-3128 minRare on AirZainab Alani on diagnostic delays, intersectionality, and educational gaps in rare disease medicineIn this episode of EURORDIS Rare on Air, host Julien Poulain speaks with Zainab Alani, a medical student at the University of Glasgow and an advocate for rare disease patients. Zainab shares her personal journey with myasthenia gravis, a rare autoimmune disorder that began affecting her at the age of 15. Despite her mother, a general practitioner, recognising the early signs, Zainab faced scepticism from healthcare professionals, leading to a delayed diagnosis.
For three years, Zainab chose to keep her diagnosis private, revealing it only to her immediate family. She shares the reasons that had underpinned this decision.
2024-09-2629 min
Rare on AirERNs on Air: Putting Patient Journeys into ActionIn this episode of our quarterly bonus series, Host Julien Poulain hands over to his colleague Nora Lazaro (EURORDIS ERN and Healthcare Patient Engagement Manager) for a discussion with Lori Renna Linton (Patient Representative in ERN RND ePAG) and Sophie Ripp (Project manager in ERN RND) on the value of patient journeys. Patient journeys are healthcare service improvement tools that capture the usual course of development of a condition, and the needs of patients living with that condition, through their day-to-day experiences. The ERN RND representatives share their experiences in creating patient journeys, disseminating them in new and innovative...
2024-09-1215 minRare on AirYoung advocate Jane Velkovski on accessibility and making a difference through footballIn this episode of Rare on Air, host Julien Poulain speaks with Jane Velkovski, a passionate young advocate for people with spinal muscular atrophy (SMA) and other disabilities.
Jane shares his journey from a young child facing accessibility challenges to becoming a powerful voice for change on an international stage. He discusses his early memories, the role of football in his life, and his vision for a more inclusive society.
Jane also highlights the importance of newborn screening for rare diseases like SMA, and shares personal stories of advocacy successes, emphasising the need for acceptance...
2024-07-2526 min
Intertwined#3: Trishna Bharadia - From European Studies and Spanish to translation to a lifelong commitment to patient advocacy through founding her own patient engagement consultancyTrishna’s "why" is to make a difference and to help empower people so that they can make decisions the way they want about their healthcare. Ultimately, the most important thing we have in life is our health. Trishna is working to ensure that the organisations designing and delivering our health care are integrating the patient voice into their products and solutions.If this sounds like a career path you’ve never heard of, keep on listening. The idea is to show you that there are many ways to make an impact in health care - beyond the...
2024-07-221h 09Rare on AirMarina Zapparoli Manzoni on the power of finding and building a communityIn this episode of Rare on Air, host Julien Poulain interviews Marina Zapparoli-Manzoni, President of Euro-HSP and Treasurer of AIVI.PS, organisations dedicated to supporting those affected by Hereditary Spastic Paraplegia (HSP).
Marina shares her family's journey with HSP, discussing the emotional challenges they faced in securing a diagnosis for her son, Edoardo. She highlights the importance of forming a supportive community for individuals undergoing similar struggles. Marina also delves into her advocacy work, the evolution of HSP research, and the potential for drug repurposing.
Inspired by her participation at the EURORDIS Open Academy in...
2024-06-2728 min
Rare on AirERNs on Air: Simplifying access to cross-border healthcare - a Czech proposalIn this quarterly bonus episode of Rare on Air, Julien Poulain hands over to Ines Hernando, EURORDIS ERN and Healthcare Director. Ines speaks with Anna Arellanesová (Chair of Rare Diseases Czech Republic) and Ladislav Švec (Director of the Czech National Contact Point for Cross-Border Healthcare).
Together, they discuss the intricacies of cross-border healthcare in the EU, focusing on simplifying access for patients with rare diseases. They also share their own professional insights and practical advice on navigating this complex healthcare landscape and the potential of ERNs to ease the process for patients and their families.
Furt...
2024-06-1216 minRare on AirAyça Şahin's story and what our survey reveals about long diagnostic journeysIn this episode of Rare on Air, host Julien Poulain explores the latest findings from EURORDIS Rare Barometer’s extensive survey on the diagnostic journeys of over 10,000 people across Europe, either living with a rare disease or as a close relative of someone who does.
Julien first speaks to Ayça Şahin, a PhD student in neuroscience living in Turkey with Spinal Muscular Atrophy (SMA), who shares her and her brother’s journey to receiving an SMA diagnosis. Ayça highlights the critical importance of early and accurate diagnoses for rare disease patients in Europe.
Reflect...
2024-05-3029 minRare on AirPositively styling life with lymphedema: Nicole FaccioIn this episode of Rare on Air, host Julien Poulain chats with Nicole Faccio, the recipient of the 2023 EURORDIS Social Media Award.
Known on social media as Facciolita, Nicole has built a significant following, with over 30,000 followers on Instagram and more than 100,000 on TikTok. She discusses with Julien her evolving experiences and perspectives on living with lymphedema, and how she started leveraging social media, and her compression garments, to cast a positive light on managing the rare condition.
Originally from Puerto Rico and now based in London, Nicole's story is one of resilience, fostering a supp...
2024-04-3024 minRare on AirThe impact of an ultra-rare condition: Fatal Familial InsomniaIn this episode of Rare on Air, Julien Poulain welcomes Virginie Duigou, President of Neuro IFF France (https://neuroifffrance.my.canva.site/).
Virginie leads a patient association forged only one year ago from the experiences of families and individuals profoundly affected by Fatal Familial Insomnia (FFI), an ultra-rare disease with a global prevalence of less than one in a million.
Throughout the episode, Virginie shares her moving accounts of how FFI (or, in French, insomnie fatale familiale - IFF) has touched her life and those of her family members, offering listeners a glimpse into the...
2024-03-2829 min
euradio à ParisEurordis : interview sur les maladies raresEn Europe, près de 30 millions de personnes sont atteintes d’une maladie rare. Et c’est Eurordis, une organisation non gouvernementale internationale, qui les représente. Composée de 80 fédérations européennes de maladies rares spécifiques, Eurordis a pour objectif de défendre les patients souvent peu nombreux à l’échelle de leur pays. Invité : Yann Le Cam, chef exécutif de cette organisation. Interview de Lou Surrans.
2024-03-1410 min
Rare on AirERNs on Air: EURACAN Registry - Developing a long-term vision togetherIn the 4th episode of ERNs on Air, EURORDIS ERN and Healthcare Patient Engagement Manager, Nora Lazaro, talks to Emma Kinloch, ePAG advocate at EURACAN ERN, and Annalisa Trama, epidemiologist and registry coordinator in EURACAN ERN, about how the patient representatives from EURACAN contributed to the set up and develop of a patient registry for adult rare cancers. They discuss what registries are, why we need them and why patient involvement is crucial to their longevity.
2024-03-1218 min
Rare on AirRare Disease Day: Leif's storyListen to our final episode of Rare On Air Stories this year, featuring Leif and his journey with GNE Myopathy. From seeking answers online to receiving a diagnosis in Switzerland, Leif shares his experiences with resilience and adaptation in navigating life with a rare condition.
2024-02-2905 min
Rare 5, Rare Spotlights: Explorando enfermedades raras en 5 minutos29 de febrero, día mundial de las enfermedades rarasEn este episodio, para hablar del Día Mundial de las Enfermedades Raras entrevistamos a la Dra. Claudia Gonzaga Jáuregui, Investigadora principal en el Laboratorio Internacional de Investigación en el Genoma Humano de la Universidad Nacional Autónoma de México (UNAM) en Juriquilla, Querétaro. La Dra. Gonzaga Jáuregui es originaria de la Ciudad de México. Estudió la Licenciatura en Ciencias Genómicas (LCG) de la UNAM. Posteriormente realizó sus estudios de doctorado en Genética Molecular y Humana en el Baylor College of Medicine en Houston, Texas, Estados Unidos donde contribuyó a estudios de variación...
2024-02-2905 minRare on AirIt's Rare Disease Day 2024!In this episode of Rare on Air, we mark Rare Disease Day 2024!
Observed globally on 29 February, this day unites people, organisations, and communities worldwide to raise awareness for the 300 million individuals battling rare diseases.
Host Julien Poulain leads a conversation with three pivotal figures in rare disease advocacy about how Rare Disease Day is striving to foster global solidarity and achieve equity in social opportunities, diagnostic access, therapies, and healthcare for people living with a rare disease.
Simona Bellagambi of UNIAMO, the Italian rare disease alliance, shares the impressive ways in which Italy's rare disease community have been celebrating...
2024-02-2929 min
Rare on AirRare Disease Day: Natalia's storyIn our 8th episode, we hear about Natalia, from Bulgaria, sharing her 14-year journey with Pulmonary Hypertension. She's faced challenges with grace. From diagnosis to founding the Bulgarian Society of Patients with Pulmonary Hypertension, Natalia's story reflects courage and community.
2024-02-2204 min
Rare on AirRare Disease Day: Jay's story
Episode 7 of Rare on Air Stories is here!
Meet Jay, an individual living with Congenital Central Hypoventilation Syndrome (CCHS), a rare invisible disability diagnosed since birth.
In this episode, Jay pursues his passions despite the challenges posed by CCHS. Hear how he advocates for disability rights, spreads awareness, and embraces life's joys.
2024-02-1503 min
Moje medicínaAnna Arellanesová: Pacienti se účastní správních řízení a mohou rozhodovat🎙️ V tomto dílu pořadu Moje medicína nahlédneme společně s Annou Arellanesovou do světa pacientských organizací. Jak je slyšet hlas pacientských organizací a jak ovlivňují zdravotní péči? Anna je ženou, která nejen pečuje o člena rodiny s cystickou fibrózou, ale také aktivně bojuje za práva pacientů na všech úrovních. Je předsedkyní České asociace pro vzácná onemocnění, členkou výboru Eurordis - Rare Diseases Europe a místopředsedkyní Pacientské rady ministra zdravotnictví. Dále je členkou pracovní skupiny pro vzácná onemocnění na ministerstvu zdravotnictví. Díky dlouhodob...
2024-02-1421 min
Rare on AirRare Disease Day: Katie's storyMeet Katie in our 6th episode of Rare on Air stories, diagnosed with CMTC at just 5 months old, she gracefully navigates life's challenges, embracing her rarity with pride. From temperature-induced swelling to laser surgeries, Katie shares her journey with courage.
School, sports, and passions—nothing held her back. Now 30, she advocates for herself and others.
2024-02-0804 min
Rare on AirRare Disease Day: Dan's storyJoin us on our 5th Rare On Air Stories for an incredible journey with Dan, a US Navy veteran and a 10-year hereditary colon cancer warrior.
Facing a rare gene mutation impacting less than 0.03% of the global population, Dan shares his resilient spirit and positive mindset throughout his battle. From a life-saving total-proctocolectomy surgery to meeting Dr. Henry T. Lynch, the pioneer of hereditary colon cancer research, Dan's story is one of faith, adaptation, and purpose.
2024-02-0105 minRare on AirMental wellbeing: Hands-on support for the communityIn this episode of Rare on Air, host Julien Poulain revisits the crucial subject of mental health and wellbeing in the rare disease community. He engages with the Presidents of two EURORDIS member organisations, who share their hands-on initiatives in providing psychological support.
José Ángel Aibar, President of the Spanish Dravet Foundation (Fundación Síndrome de Dravet), reflects on his family's struggle with Dravet Syndrome, a severe form of epilepsy. He details how this personal experience inspired the Foundation's targeted psychological support for those affected by the condition.
Claas Röhl, President of NF Kinde...
2024-01-3128 min
The Rare hour with Christopher VelonaMental Health support has a new face.David has a rare disease called Cowden Syndrome and is from the U.K. He set up a rare disease men's mental health group three and a half years ago to give men a chance to share their experiences and listen to others going through similar experiences.
He has currently increased the meetings to two times a month and is working with Eurordis in a mental health partnership network and social policy group.
To reach out to David for more info you can email him at:
dsross2013@gmail.com
2024-01-3030 min
Rare on AirRare Disease Day: Deeann's story
In our fourth episode we explore Deeann's unique journey, living with Nail Patella Syndrome, Idiopathic Intracranial Hypertension, Nervus Intermedius Neuralgia, Glossopharyngeal Neuralgia, and Trigeminal Neuralgia, alongside other rare conditions. As Deeann approaches the completion of her 5th university degree, she advocates for inclusion and diversity within the disability sector.🌍 Traveling through 29 countries, facing extended hospital stays, and managing persistent pain, Deeann's story reflects resilience in the context of these rare diseases.
2024-01-2504 min
Rare on AirRare Disease Day: Bor's storyIn our third episode, we explore the inspiring journey of Bor, living with chromsome 8p deletion. Affectionately known as Borči, he's the heart of his family, radiating love and joy. We will also delve into his world – from his love for farm visits and cherished moments with his older brother to his passion for cartoons and fairy tales.
2024-01-1804 min
Rare on AirRare Disease Day: Becky's storyIn our second episode, we learn about Becky from the UK, a proud parent navigating life with Koolen-de Vries syndrome alongside her two youngest children, Isabella and Joshua. We also share her journey, from receiving a joint diagnosis to embracing authenticity and becoming an advocate.
2024-01-1105 min
Rare on AirRare Disease Day: Amber's storyIn our first episode, we read about Amber’s highs of her adventures in Bali, the ways of dealing with stares and comments, and the wisdom she's gained from her unique journey. She'll also give us a glimpse into her daily routine!
2024-01-0505 minRare on AirGene therapies: Promoting development and expanding accessIn this episode of Rare on Air, host Julien Poulain delves back into the world of gene therapies, chatting with Khadidja Hadri, a French mother whose nine-year-old son grapples with the rare genetic disorder ADA-SCID, and Stefano Benvenuti, Public Affairs Manager at the Fondazione Telethon in Italy.
Khadidja candidly shares how a groundbreaking gene therapy transformed her son’s health, significantly altering the trajectory of their lives.
Stefano provides insights into the workings of gene therapies, detailing the one administered to Khadidja's son, and also discusses his perspectives on proposed EU reforms to boost incentives fo...
2023-12-2828 minRare on AirAction within reach: Shaping the future at ECRD 2024On 15-16 May 2024, EURORDIS-Rare Diseases Europe will be hosting the 12th edition of the European Conference on Rare Diseases and Orphan Products (ECRD), online and in Brussels. As preparations for the largest, patient-led rare disease policy-shaping conference ramp up, host Julien Poulain speaks to three guests about what they are most looking forward to about the event.
Sharon Ashton, Events and Open Academy Director at EURORDIS, explains how ECRD has evolved over the years. Valentina Bottarelli, Public Affairs Director and Head of European Advocacy of EURORDIS, speaks about why ECRD 2024 promises to shape European policymaking on rare...
2023-11-3029 min
Rare on AirERNs on Air: Giving back to the community
Hosts Rhiannon Walls and Inés Hernando talk to Simone Louisse (ePAG advocate at ERN GuardHeart) and Barbara Brunmair (Project Manager at PaedCAN ERN) about how patient representatives involved in the European Reference Networks (ERNs) are sharing relevant information and resources generated by their networks with the local communities. They explore best practices for fast-tracking patients to access much needed virtual specialist advice offered by the ERNs and explore how their personal experiences as members of the rare disease community influence their work in the networks.
2023-11-0818 min
MS-Perspektive - The Multiple Sclerosis PodcastInclusive Advocacy – Elevating Diverse Voices in Patient Engagement for MS Patients. Interview with Trishna BharadiaPatient Engagement Consultant Trishna Bharadia talks about how people with MS can adivcate for themselves or for a wider community. You can find an overview of the questions I asked Trishna on my blog: https://ms-perspektive.com/34-trishna-bharadia Today I am speaking with Trishna Bharadia, who is a very active patient engagement consultant and works with a variety of companies and patient organizations to ensure that all patients with multiple sclerosis are included in the planning and implementation of campaigns, services and dialogue with various stakeholders. She shares her knowledge, some representative examples of well...
2023-11-081h 05Rare on AirGene therapies: Why are they important?Given that 72% of rare diseases are genetic in origin, gene therapies, along with their research and development, hold great promise for enhancing the lives of many more people living with a rare condition. These therapies involve altering a person's genes to treat or prevent diseases.
In the latest episode of Rare on Air, host Julien Poulain converses with Radoslav Hajgajda, Chair and co-founder of the Association of Gene Therapy (Asociace Genové Terapie). Based in Prague with his family and his six-year-old son, Oliver, who has Angelman syndrome, Radoslav (also referred to as Rado in this episode) is d...
2023-10-2729 minRare on AirShould more diseases be screened for at birth?Host Julien Poulain returns to the topic of newborn screening for rare diseases, upon the completion of a recent EURORDIS Rare Barometer survey on the topic. The survey received more than 6,000 responses (including more than 5,500 responses in Europe) from across the global rare disease community about health systems practice of screening at birth for health conditions.
Before exploring the results of the survey, Julien talks to Iuliana Dumitriu, the mother of Victor, an eight-year-old boy living with Coffin-Lowry Syndrome in Romania. Iuliana, who is also the President of the Coffin-Lowry Syndrome Association shares with...
2023-09-2827 min
Rare on AirERNs on Air: No two are alike
In this episode, Rita Francisco, Survey Junior Manager at EURORDIS, and Mariette Driessens, Policy officer at VSOP -the Dutch Alliance for Rare disease, are joined by Charlotte van Beuzekom, Endo-ERN Manager, andby Michelle Battye, ERN eUROGEN Manager as they undertake the challenge of doing a ‘compare andcontrast' exercise, to help us understand how similar, or different, European Reference Networks(ERNs) can be from one another. We get personal insight into what being ERN Manager entails, we learn more about current ERN projects and their recent challenges and achievements, and we even ta...
2023-09-0718 minRare on AirAssessing the true value of new health technologiesHost Julien Poulain delves into the topic of Health Technology Assessments (HTAs) – the processes through which healthcare systems evaluate the available therapies and technologies for treating a condition. HTAs are central to healthcare systems determination of whether a particular treatment is worth paying for and should be reimbursed when accessed by patients.
Julien is joined by Johan De Graaf, President of the Dutch Pituitary Foundation (Nederlandse Hypofyse Stichting), who shares both his own and his community’s experiences with securing reimbursements for improved treatments. Johan also talks about patient-led efforts to expand access to thes...
2023-08-3128 minRare on AirFinding New Uses for Existing MedicinesIn this episode of Rare on Air, host Julien Poulain explores the potential of drug repurposing to ensure greater accessibility of medicines for rare disease patients. He is joined by Leonardo Panzeri, President of the Italian Osteogenesis Imperfecta Association (Associazione Italiana Osteogenesi Imperfetta), who highlights the pvalue of identifying new uses for existing medications, including to the community of people living with Osteogenesis Imperfecta. Julien also engages in discussions with EURORDIS colleagues, Claudia Fuchs and Judit Baijet, who shed light on the REMEDi4ALL project. This ambitious EU-funded initiative is aiming to advance the repurposing of approved, discontinued, shelved...
2023-07-2726 minRare on AirTransforming Healthcare through Sharing Data
Rare on Air host Julien Poulain delves into the crucial role of effective health data-sharing systems for patients with rare diseases by talking to Veronica Popa, Chair of the MCT8-AHDS Foundation and EURORDIS’ Digital Patient Engagement Manager. Veronica candidly reveals her experience grappling with extensive paperwork related to her son's ultra-rare medical condition due to insufficient data sharing within Romanian and European health systems. Jelena Malinina, Data Director at EURORDIS, also joins to examine the EU's plans to modernise health data systems through the proposed 'European Health Data Space', and she explores its potential to enhance healthcare for th...
2023-06-2929 min
Dad to Dad PodcastDad to Dad 257 - David Ross of Little Hampton, England, A Rare Disease Advocate Reflects On His Cowden Syndrome DiagnosisOur guest this week is David Ross of Little Hampton, England. David is a rare disease advocate for mens mental health. He plans and hosts valuable international support calls focused on men in the rare disease community. David also has a rare disease himself called Cowden Syndrome, a rare genetic inherited condition. People with Cowden syndrome often have many noncancerous, tumor-like growths. They may also have an increased risk of developing certain cancers. Experts estimate it affects 1 in 200,000 people. The condition often goes underdiagnosed because some healthcare providers may not recognize its symptoms.David reflects on...
2023-06-0931 minRare on AirThe effort to make rare disease medicines less rare
Rare on Air host Julien Poulain talks to Dominique Sturz, patient advocate and leader of the Usher Initiative Austria, and Simone Boselli, Public Affairs Director at EURORDIS, to discuss the difficulties that many currently experience when accessing rare disease medicines, and what the EU is doing to address these difficulties. Dominique shares with us her family’s experiences with a lack of approved medicines for her daughter’s Usher Syndrome, and Simone explains the European Commission’s recent proposals to expand the development of, and access to, rare disease medicines.
Email the podcast at RareOnAir@eurordis.org.
2023-05-2632 min
Signalise: a Dazzle4Rare PodcastEP22: Signalising Newborn Screening with Screen4Care EFPIA Lead, Dr. Nicolas GarnierWelcome to this episode of Signalise: a Dazzle4Rare podcast. In this episode, we’re joined by Dr. Nicolas Garnier (French pronunciation: [ni.ko.la]) who’ll tell us a bit about himself and his work.
We’d planned to discuss Dr. Garnier’s work in new-born screening and the topic broadly but I couldn’t help myself; I wanted to get a more full understanding on his current project, Screen4Care where he is the consortium lead.
I think of Dazzle4Rare as a community service to our rare and associated communities so I’m glad that...
2023-05-2437 minRare on AirMental wellbeing with a rare diseaseRare on Air host Julien Poulain talks to Kym Winter, Founder and Chief Executive Officer of Rare Minds, and Matt Bolz-Johnson, Mental Health Lead and Healthcare Advisor at EURORDIS, to explore the often-overlooked topic of the mental wellbeing challenges commonly presented to those living with a rare disease. Kym talks about how her family’s own experiences compelled her to establish the UK’s first specialist rare disease counselling service, and Matt discusses the opportunity that Europe must take to improve mental wellbeing for people living with a rare disease.
Email the podcast at RareOnAir@eurordis.org.
2023-04-2733 min
Rare on AirERNs on Air: The role of patient advocatesOver the last 5 years, rare disease patient organisations have designated patient representatives who volunteer to work alongside clinicians in the European Reference Networks (ERNs). The role of these ePAG advocates is to represent the needs of their community by collaborating with the clinicians involved in the ERNs and being a bridge between the Networks and their community. Not an easy task!
Inés Hernando, ERN and Healthcare Director at EURORDIS, talks to Maria Barea and Graham Slater, about their personal story as ePAG advocates, how they became involved in the European Reference Networks, how they are contributing t...
2023-04-1812 minRare on AirWar with a rare disease: Responding to the invasion of UkraineOne year on from Russia’s full-scale invasion of Ukraine, Julien Poulain, Communications Manager at EURORDIS, speaks to those who have dedicated themselves and their organisations to supporting those Ukrainians living with a rare disease amid the crisis.
Tetiana Kulesha, Chair of the Board of Orphan Diseases of Ukraine, joins the discussion to speak not only of her efforts to support patients impacted by the invasion, but also her efforts to make sure Ukraine keeps striving towards its pre-war goals in rare disease policy. Adrian Goretzki, and Katarzyna Świeczkowska also share how their organisations in neighbouring Poland have been supporting Ukr...
2023-02-2835 min
Der Profcast - Seltene Erkrankungen und ihre Therapien#10 #ShareYourColours at Rare Disease DayStanislav Ostapenko is Senior Communications Manager at the European Organization for Rare Diseases (Eurordis), which coordinates the Rare Disease Day across Europe. In our podcast series "The Profcast - rare diseases and their therapies", he talks with Prof. Dr. Matthias P. Schönermark about the intention and impact of the Rare Disease Day and further appealing campaigns raising awareness about rare diseases.
2023-02-2818 min
EUCOPE's Sounds of ScienceRare Disease Day 2023: Improving equitable access and diagnosis for people living with a rare diseaseSOUNDS OF SCIENCE - EPISODE 13
This year’s Rare Disease Day comes at a crucial time, weeks before we expect the publication of the pharmaceutical package which will revise the General Pharmaceutical Legislation, Paediatics, and OMP Regulations, which will set the tone for the EU rare disease ecosystem for at least the next 2 decades.
The theme for this year’s Rare Disease Day is equity, so we wanted to take the opportunity to dive into some of these debates and asses what the EU can do in this space, especially against the backdrop of the legi...
2023-02-2247 min
The Health Design PodcastVanessa Ferreira, patient advocate.Vanessa Ferreira is a patient advocate who has committed more than 14 years of professional and personal commitment to patient associations in numerous countries and areas, such as rare diseases and cancer.
She holds an MBA from Sorbonne University Paris and a Ph.D. in cell and molecular biology. She has one sister living with a rare disease called Congenital Disorders of Glycosylation (CDG).
In 2022, she co-founded Humanized Solutions, whose mission is to support different stakeholders by implementing solutions co- created with the patient voice. She is interested in fostering
sustainable collaborations and establishing patient-centricity as a norm for better health...
2023-02-0328 minRare on AirBreaking down barriers: Living with a rare disease and disabilityThe majority of people living with a rare disease in Europe also live with a disability, and have to deal with unfair daily barriers to living freely and reaching their full potential.
Julien Poulain, Communications Manager at EURORDIS, explores some of the barriers faced by people with a visible or invisible disability, and particularly focuses on those barriers relating to accessible workplaces and the moving across borders to visit, or live in, a different European country.
Rare disease advocates Rebecca Tvedt Skarberg, who lives in Norway with a visible disability, and Adéla Odrihocká, who li...
2023-01-3137 minRare on AirScreening at birth: The key to longer, healthier and better livesMany people living with a rare disease and their families experience long, exhausting and disappointing journeys toward receiving a diagnosis on their condition. But what if the journey toward a diagnosis didn’t need to be so long?
Julien Poulain, Communications Manager at EURORDIS, talks to Kirsten Johnson, chair of both the Fragile X Society in the UK and Fragile X International, and Gulcin Gumus, Research and Policy Project Manager at EURORDIS, about the promise of newborn screening programmes across Europe.
Do you want to share your story about struggling to find a medical diagnosis? Or...
2022-12-2128 min
Rare on AirThe Journey of European Reference NetworksIn our first episode of Rare on Air, Julien Poulain interviews Yann Le Cam, Chief Executive Officer of EURORDIS-Rare Diseases Europe, as we take a trip down memory lane with the European Reference Networks (ERNs).
Later in the episode, we hear a conversation on how the ERNs began, led by Rita Francisco, EURORDIS' Patient Engagement Junior Manager, and Sarah Weiler from the Luxembourg National Alliance for Rare Diseases.
Finding the right expert to access care for a rare disease remains a challenge for many of the 30 million people living with a rare disease in Europe. To address these challenges, the EU c...
2022-11-2929 min
AhbarjietMalta"Czech presidency commits to follow up on EU rare diseases action plan This article is part of our special report Czech presidency and pharmaceutical legislation. The Czech Presidency of the EU C"Czech presidency commits to follow up on EU rare diseases action plan
This article is part of our special report Czech presidency and pharmaceutical legislation.
The Czech Presidency of the EU Council said it will cooperate with forthcoming Council presidencies to create an EU action plan for rare"
"--START AD- #TheMummichogblogOfMalta Amazon Top and Flash Deals(Affiliate Link - You will support our translations if you purchase through the following link) - https://amzn.to/3CqsdJH
Compare all the top travel sites in just one search to find the best hotel deals at HotelsCombined - awarded world's best hotel price...
2022-11-2410 min
The New Horizon TalksEpisode 5: Advancing Europe's leadership in rare disease innovationThis episode explores the EU’s leadership in response to rare diseases and innovation in the area, with a special focus on advanced therapy research and development. What are the achievements made in Europe and where are the remaining gaps? How can Europe achieve leadership in innovation for rare diseases?
Guests:
Yann Le Cam, CEO, EURORDIS
Elisabetta Zanon, Director, EU Public Affairs & Advocacy, Alliance for Regenerative Medicine, Europe
2022-09-2023 min
The New Horizon TalksEpisode 5: Advancing Europe’s leadership in rare disease innovation (Bonus edition)This episode explores EU’s leadership in response to rare diseases and innovation in the area, with a special focus on advanced therapy research and development. What are the achievements made in Europe and where are the remaining gaps? How can Europe achieve leadership in innovation for rare diseases? The bonus edition provides insights about the impact of the COVID-19 pandemic on rare disease patients and innovation in the field.
Guests:
Yann Le Cam, CEO, EURORDIS
Elisabetta Zanon, Director, EU Public Affairs & Advocacy, Alliance for Regenerative Medicine, Europe
2022-08-1119 min
Der Code des LebensVom Genetikwissen bis zur Behandlung
Wie kommt man vom theoretischen Wissen über die menschliche Genetik zu einer konkreten Behandlung von genetischen Krankheiten? In dieser Folge greifen wir zwei unterschiedliche Formen von genetischen Krankheiten auf: Seltene Erkrankungen und Krebs. Unsere zwei Interviewgäste, Dr. Holm Gräßner (Universitätsklinikum Tübingen) und Prof. Stefan Fröhling (NCT Heidelberg, DKFZ Heidelberg und Universitätsklinikum Heidelberg), erklären uns was es bedeutet seine Genetik zu kennen, was Präzisionsmedizin ist und wie man Forschungsergebnisse sehr schnell an die Patientenversorgung anschließen kann.
Erwähnte Projekte:
Europäische Referenznetzwerke: https://www.eurordis.org/de/european-reference-networks
SolveRD: http...
2022-06-0741 min
The Health Design PodcastDavid Ross, Patient AdvocateDavid Ross is a patient advocate and rare disease male mental mental health collaborator. David's activism began in 2017 when he was diagnosed with a rare disease called Cowden Syndrome due to being given a letter from his mother about getting tested before she passed away due to having the same condition.
After a period of coming to terms with this he became committed to raising awareness and supporting others impacted by this condition by helping set up a support group and also applying to join the Pten Foundation International Family Council which looks to helping my rare disease community by...
2022-05-0925 min
EULAR PAREMeet our collaborators - EURORDISThis episode initiates a new series within the EULAR PARE Podcast where we aim to get to know the European organisations that collaborate with EULAR PARE a little better. Simona Bellagambi and Ilaria Galetti from EURORDIS share its history, connection to EULAR PARE and the excellent work that they do for people with rare diseases in Europe, including people with RMDs.
2022-04-2621 min
Life and ScienceReimagining rare disease detection: Who needs to be at the table?Rare disease detection is an interdisciplinary and international
problem. Building a solution must include internationally agreed-upon
diagnostic criteria for each rare disease, patient access to diagnostic
technologies, and effective communication strategies between health care
workers and patients. In addition, relevant medical databases (e.g.,
patient DNA data) need to be international, multilingual, and readily
accessible, crossing all socioeconomic boundaries. Academia, business,
biopharma, artificial intelligence experts, international governmental
agencies, and health care organizations will need to be at the table.
Most importantly, patient voices need to be heard and honored, giving
2022-04-1558 min
'ne Dosis Wissen | Der Medizin-Podcast für Menschen im GesundheitswesenKI erkennt seltene Erkrankungen - im GesichtEine neue Studie belegt, dass ein Algorithmus namens GestaltMatcher die komplizierte Diagnostik bestimmter seltener Erkrankungen verbessern kann.
Auch im Jahre 2022 ist die Diagnose seltener Erkrankungen ein anhaltend großes Problem. Denn die meisten dieser geschätzten 6000 bis 7000 Krankheiten kommen einfach zu selten vor, als dass sie ein Haus- oder Facharzt auf dem Schirm haben könnte. Nun haben Forschende mehrerer Universitäten und Einrichtungen eine Künstliche Intelligenz so trainiert, dass sie über 1000 rare diseases diagnostizieren kann - durch Analyse des Gesichts. Dr. Dennis Ballwieser, Arzt und Chefredakteur der Apotheken-Umschau, erklärt, wie das neue System funktioniert.
Quellen...
2022-03-0110 min
Instituto NeuroAlphaDoenças Raras✨ 28 DE FEVEREIRO - DIA MUNDIAL DAS DOENÇAS RARAS ✨
A Profa. Dra. Cynthia Bedeschi apresenta importantes considerações sobre Doenças Raras neste dia tão especial! ❤️
Nas plataformas Instagram, Facebook, Youtube e Podcasts dos canais do Instituto NeuroAlpha e Neuro On Focus!🚀
Aproveitem e compartilhem!🧚♀️
Conforme prometido, seguem sites importantes:👇
https://www.raredisorders.ca
http://www.findzebra.com/
https://www.google.com
https://www.genepeeks.com
https://www.ncbi.nlm.nih.gov/pubmed
https://phenomecentral.org/
https://www.patientslikeme.com/
https://www.datagenno.com
https://www.eurordis.org
https://www.ncbi.nlm.nih.gov/
books/NBK1116/
https://www.omim.org/
http://www.orpha.net/co...
2022-02-2818 min
Neuro On Focus 🔎🧠Doenças Raras✨ 28 DE FEVEREIRO - DIA MUNDIAL DAS DOENÇAS RARAS ✨
A Profa. Dra. Cynthia Bedeschi apresenta importantes considerações sobre Doenças Raras neste dia tão especial! ❤️
Nas plataformas Instagram, Facebook, Youtube e Podcasts dos canais do Instituto NeuroAlpha e Neuro On Focus!🚀
Aproveitem e compartilhem!🧚♀️
Conforme prometido, seguem sites importantes:👇
https://www.raredisorders.ca
http://www.findzebra.com/
https://www.google.com
https://www.genepeeks.com
https://www.ncbi.nlm.nih.gov/pubmed
https://phenomecentral.org/
https://www.patientslikeme.com/
https://www.datagenno.com
https://www.eurordis.org
https://www.ncbi.nlm.nih.gov/
books/NBK1116/
https://www.omim.org/
http://www.orpha.net/co...
2022-02-2818 min
FIECON Patient PerspectivesThe patient journey | Dravet syndromeJosé Ángel Aibar became involved in the activities of the Dravet Syndrome Foundation, shortly after one of his sons was diagnosed with Dravet syndrome. He has served as President and CEO since June 2018. José is also a member of several rare disease and epilepsy working groups, such as Epag EpiCARE and the Eurordis Digital and Data Advisory Group, as well as a member of the advisory committee of several international projects. and from the industry.The Dravet Foundation was started with the aim of promoting, encouraging and connecting the world's leading research centers on Dravet syndr...
2022-02-2824 min
Podcast Cruzamento34: Sandra Brasil: Qual o Impacto Da Genómica Nas Doenças Raras?Neste episódio do Podcast CRUZAMENTO, André Correia e Daniel Guedelha conversam com Sandra Brasil sobre o impacto que a terapia genética pode ter nas doenças raras, em drug repositioning, e na importância de "descomplicar" a linguagem e colaboração quando se abordam estes temas.
A Sandra Brasil é licenciada em Bioquímica e doutorada em Farmácia (especialização em Biologia Molecular e Celular) pela Universidade de Lisboa. O seu trabalho focou-se desde o início na área das Doenças Raras Metabólicas e na procura de novas abordagens terapêuticas. Após o seu doutoramento...
2022-02-2825 minPodcast Cruzamento34: Sandra Brasil: Qual o Impacto Da Genómica Nas Doenças Raras?Neste episódio do Podcast CRUZAMENTO, André Correia e Daniel Guedelha conversam com Sandra Brasil sobre o impacto que a terapia genética pode ter nas doenças raras, em drug repositioning, e na importância de "descomplicar" a linguagem e colaboração quando se abordam estes temas.
A Sandra Brasil é licenciada em Bioquímica e doutorada em Farmácia (especialização em Biologia Molecular e Celular) pela Universidade de Lisboa. O seu trabalho focou-se desde o início na área das Doenças Raras Metabólicas e na procura de novas abordagens terapêuticas. Após o seu doutoramento...
2022-02-2825 min
Podcast Cruzamento34: Sandra Brasil: Qual o Impacto Da Genómica Nas Doenças Raras?Neste episódio do Podcast CRUZAMENTO, André Correia e Daniel Guedelha conversam com Sandra Brasil sobre o impacto que a terapia genética pode ter nas doenças raras, em drug repositioning, e na importância de “descomplicar” a linguagem e colaboração quando se abordam estes temas. A Sandra Brasil é licenciada em Bioquímica e doutorada em Farmácia (especialização em Biologia Molecular e Celular) pela Universidade de Lisboa. O seu trabalho focou-se desde o início na área das Doenças Raras Metabólicas e na procura de novas abordagens terapêuticas. Após o seu doutoramento, em...
2022-02-2825 min
Beyond the DiagnosisEpisode 012 - Rare Disease Day 2022Welcome to Episode 012 of the Beyond the Diagnosis Podcast. In this episode Kathy talks with Debbie Drell, the Director of Membership for the National Office for Rare Disorders or NORD. Learn about Rare Disease Day 2022, how its impacted the rare disease world over the years and how you can get involved in Rare Disease Day this year.
Let us know what you think! Leave us a review, drop us a comment or share an idea for a future podcast with us at podcast@histio.org.
Take a screenshot and tag us @histiocytosis_association on Instagram...
2022-01-2530 min
Science Will WinWhat’s Next For Gene Therapy?Gene therapy is at a pivotal moment. For eligible rare disease patients, the potential impact could be huge. So how can we support that potential to fruition and what will it mean if we do? In our season finale, host Adam Rutherford and guests take a peek into what a world with successful gene therapies could look like for patients, healthcare and society.Featuring guests:Durhane Wong-Rieger, President & CEO at Canadian Organization for Rare DisordersErik Paulsen, Chair, Institute for Gene TherapiesKarolina Hanslik, Former Senior Project Manager, EURORDISNikhil Gadre, Senior Director...
2021-10-2931 min
Science Will WinThe Policy PuzzleAs with any new breakthrough medicine, entering the healthcare system comes with a host of obstacles and potential barriers. In this episode, Adam Rutherford and guests break down the big changes needed within the global healthcare ecosystem to ensure that, once approved, the therapies we’re researching now, like gene therapy, reach the patients who need them.Featuring guests:Bert Bruce, Regional President, North America, Rare Disease, Pfizer Brenda Cooperstone, Senior Vice President, Chief Development Officer, Rare Disease, PfizerDurhane Wong-Rieger, President & CEO at Canadian Organization for Rare DisordersEmily Crossley, Chief Executive Offi...
2021-10-2228 min
Ana Radišić PodcastŽivjeti život sa rijetkom bolesti? Upoznajte inspiraciju Vlastu Zmazek!"Trebala sam otići u Englesku na operaciju šaka sa Matijom, nisam dobila sredstva od HZZO-a. Dovela sam liječnika da operira ovdje. Nisam znala za ne. Kad hoćes nešto napraviti možeš i hoćes. Želis taj dječji osmijeh, to je sve. Kad se bilo koje dijete nasmije, to je sve."Liječnici su joj čestitali za sve sto je napravila za bolest od koje se razboli jedno dijete od njih 17000Bulozna epidermoliza , odnosno Djeca LeptiriMatija je bio inspiracija, a ljubav prema njemu i pomaganju drugma prerasla je sve moguće grani...
2021-10-1528 min
Science Will WinClinical Trials: Courage and PerseveranceGene therapy has come a long way to get where it is today but there is still much to learn and investigate. Host Adam Rutherford speaks to a line-up of experts about the vital role of clinical trials and the unique challenges facing gene therapy and rare disease patients.Featuring guests:Brenda Cooperstone, Senior Vice President, Chief Development Officer, Rare Disease, PfizerEmily Crossley, Chief Executive Officer, Duchenne UKErik Paulsen, Chair, Institute for Gene TherapiesProfessor John Rasko, Clinical Haematologist & Trial Investigator, University of SydneySimone Boselli, Director, Public Affairs, EURORDIS
2021-10-1526 min
The New Horizon TalksEpisode 1: New Horizons for Rare Disease PatientsThis episode provides an introduction to cell and gene therapies and touches upon the historical, scientific, clinical, policy and regulatory considerations surrounding their development and use, with forward-looking perspectives from our guests on the future of this new chapter of medicine.
Guests:
· Professor Luigi Naldini, Director, San Raffaele Telethon Institute for Gene Therapy
· Avril Daly, Vice-president, Rare Diseases Europe (EURORDIS); CEO, Retina International
----
Abbreviations:
· CAR T cells: chimeric antigen receptor T cells
· HTA: Health technology assessment
2021-09-2228 min
The Rare Disorder Podcast5. Meet a Fighter: Cowden Syndrome ft. David RossIn this episode, I interview David, who is a fighter of Cowden Syndrome. David Ross is a patient advocate and rare disease male mental mental health collaborator. David's activism began in 2017 when he was diagnosed with a rare disease called Cowden Syndrome due to being given a letter from his mother about getting tested before she passed away due to having the same condition.
After a period of coming to terms with this he became committed to raising awareness and supporting others impacted by this condition by helping set up a support group and also applying to...
2021-06-2412 min
PF News & PerspectivesEurordis Survey: Healthcare Experience Worse for Rare Disease PatientsPulmonary Fibrosis News Columnist and Forum Moderator Charlene Marshall reads an article summarizing the results of a Eurodis Survey highlighting the healthcare experience for patients with a rare disease. Respondents to the survey identified three priority healthcare areas where changes could be made to help better care for patients with rare or complex diseases. Eurodis hopes the results of this survey will inspire policymakers to improve care to patients with a rare disease in Europe.
Are you interested in learning more about Pulmonary Fibrosis? If so, please visit: https://pulmonaryfibrosisnews.com
2021-03-0408 min
R is for RareBONUS - Rare Disease Day 2021Today's bonus episode is all about Rare Disease Day, which is celebrated on the last day of February each year! So, Happy Rare Disease Day! I go through the history of this special day, what some organizations are doing to celebrate, and how you can participate in this amazing day!
Share your story on social media with #RareDiseaseDay and #WearYourStripes!
Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And be sure to leave a review and let me know what you think of the p...
2021-02-2823 min
Drug Safety Matters#7 The challenge of rare diseases – Christina Ström MöllerBy definition, a rare disease is one that only affects a handful of people in the world. But with more than 300 million people collectively affected by these conditions and only few approved treatments available, rare diseases constitute a major unmet medical need. Christina Ström Möller from Swedish biopharmaceutical company Sobi walks us through the scientific, commercial and human challenges of the rare disease landscape.Tune in to find out:What drug development, testing and distribution look like when patients are few and far apart Why patient narratives are especially important when monitoring the...
2021-02-2624 min
Comprendre le monde - par Pascal BonifaceComprendre le monde S4#15 – Yann Le Cam – "Géopolitique des maladies rares"Les maladies rares touchent environ 30 millions de personnes en Europe. Pascal Boniface reçoit Yann Le Cam, directeur d'Eurordis, alliance non gouvernementale européenne pour l'accompagnement et l'accès au traitement des patients atteints de maladies rares. Dans un contexte où les questions de santé sont plus que jamais sur le devant de la scène, Yann Le Cam revient sur le rôle pionnier de la société civile et de la France sur le sujet, puis sur la construction d'un espace de collaboration européen. Des questions de coopération internationale particulièrement importante concernant les maladies rares à l'heure où l...
2020-12-0924 min
Uninvisible Pod with Lauren Freedman051: Mental Health & Cystic Fibrosis Patient Advocate Thomas Smith Thomas Smith is a an international consultant providing expert patient insights; diagnosed with cystic fibrosis (CF) as an infant and taking control of his livelihood in his late teen years, he is now involved with numerous patient advocacy groups that span the rare and chronic disease spectrum, with a focus on mental health. A former member of the European Health Parliament in Brussels, he’s an expert patient reviewer for the European Medicines Agency, a trustee at Britain’s biggest national mental health charity, Mind, and works for the Research Ethics Committee (as part of the Health Research Authority) of t...
2019-12-0455 min
The Spinal Muscular Atrophy Podcast with Kevin SchaeferEurordis' Integrated Care Initiative For Rare Disease Patients & Cooperate With Physical Therapists
2019-08-2609 min
SMA News & PerspectivesEurordis' Integrated Care Initiative For Rare Disease Patients & Cooperate With Physical TherapistsWe discuss how Eurordis unveils an integrated care initiative for rare disease patients. Also, SMA News Today’s Director of Multichannel Content, Michael Morale, discusses working with physical therapists, and making them more comfortable while working out with patients with SMA.
Are you interested in understanding gene therapy? ExploreGeneTherapy.com has helpful information about gene therapy, including its history and how it is being investigated for the treatment of genetic diseases. Visit www.exploregenetherapy.com
2019-08-2609 minSMA News & PerspectivesThe "Rare Barometer” Is Helping Eurordis Shape EU Rare Disease Policies & SMA Community DiversityWe discuss “Rare Barometer”, which is a program that is helping Eurordis shape EU rare disease policies. Also, Community Development Manager Kevin Schaefer reads from his latest column about diversity within the SMA community.
Are you interested in understanding gene therapy? ExploreGeneTherapy.com has helpful information about gene therapy, including its history and how it is being investigated for the treatment of genetic diseases. Visit www.exploregenetherapy.com
2019-08-1609 min
The Spinal Muscular Atrophy Podcast with Kevin SchaeferThe "Rare Barometer” Is Helping Eurordis Shape EU Rare Disease Policies & SMA Community Diversity
2019-08-1609 min
PharmaPills - Pillole dal farmaceuticoPharmapills puntata n.48. Novartis vince il EURORDIS Black Pearl Awards 2018PharmaPills - Pillole dal farmaceutico: Novità, Curiosità e Lavoro dal mondo del farmaceutico. A cura di Stefano LagravineseIn questa puntata parliamo di:Aziende: EMA, Kite Pharma, Gilead, Sangamo Therapeutics, Assogenerici, Amazon, Perrigo, Novartis, Roche, Flatiron Health, FDA, Astrazeneca, Bausch and Lomb, PRA Health Sciences, Menarini. Persone: Enrique Häusermann (Assogenerici), Susanne Schaffert (Novartis), Vincenzo Palermo (Astrazeneca), Antonio Iavarone (Besta), Anna Lasorella (Besta).Nuove terapie: durvalumab.Patologie: tumore al polmone, glioblastoma. Lavoro: Pharmacovigilance Specialist, CRA, Regulatory Affairs Officer.Ogni mercoledì alle h 12.00 su Spreaker.com e iTun...
2018-02-2810 min
Friends of Europe podcastsAccess, care and diagnosis for rare diseasesFriends of Europe's debate focused on solutions to diagnose and cure rare diseases in Europe. Speakers included Yann Le Cam (Eurordis), Nathalie Moll (EFPIA), Xavier Prats Monné (European Commission), Maurizio Scarpa (MetabERN) and Kim Stratton (Shire).
2017-06-221h 02PharmaPills - Pillole dal farmaceuticoPharmapills puntata n. 10. La classifica delle 15 maggiori aziende di biosimilari secondo Evaluate PharmaPharmaPills - Pillole dal farmaceutico: Novità, Curiosità e Lavoro dal mondo del farmaceutico. A cura di Stefano LagravineseIn questa puntata parliamo di:Aziende: QuintilesIMS, Teva Pharmaceutical Industries, Mylan, Novartis, Sandoz, Pfizer, Allergan, Sun Laboratories, Fresenius, Endo International, Lupin, Sanofi, Aspen Pharmacare, Aurobindo, Cipla, Apotex, Dr. Reddy's, Ypsomed.Persone: Alessandro Mostaccio (Movimento dei consumatori), Federico Spandonaro (Università Tor Vergata di Roma), Andrea Giustina (Università Vita e Salute San Raffaele), Annamaria Vezzani (Istituto Mario Negri di Milano), Pier Paolo di Fiore (IFOM), Sara Sigismund (Università Statale di Milano), Carlo Tacchetti (Ospedale San Raffaele di Milano), Gianc...
2017-05-2415 min
Digital Health Today 360 with Dan KendallTaking on the World: How Medtep is Tackling Behavior Change. Globally.Our guest, Pablo Pantaleoni, is an economist and entrepreneur, and he is the CEO and Co-founder of Medtep. He's worked for banks and brokering firms, specializing in international markets. He also has worked for the United Nations, GSMA, Morgan Stanley, IBM and Cisco Systems. In his second year at University, he founded his very first startup, which was an online platform for young European students offering a personalized search for places to live, language courses and internships. That business expanded to more than 40 cities in 14 different European countries. At the end, he decided to sell the company in o...
2016-06-1330 min