Rare on Air

On 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...

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 acce...

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-foun...

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 result...

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, and by Michelle Battye, ERN eUROGEN Manager as they undertake the challenge of doing a ‘compare and contrast' exercise, to help us understand how similar, or different, European Reference Ne...

Host 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...

In 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...

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 dat...

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 appro...

Rare 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 firs...

Over 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! I...

One 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 impa...

The 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...

Many 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 Gulci...

In 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 Luxe...