For more than 30 years, Sanofi has supported patients with Lysosomal Storage Disorders through its Rare Humanitarian Program, which is the first, the largest and the longest running program of its kind. Tune in to hear more about how Sanofi supports patients across the world even in times of crisis.

Real World Data and Evidence (RWD/RWE) are increasingly being utilized by key decision-makers in the Rare Disease ecosystem. Registries can be one of the most robust vehicles for generating meaningful evidence. Join us to learn more about the diverse world of registries and how they inform our understanding and treatment of rare diseases.

Despite years of medical progress, why have diagnostic delays remained unchanged? The panelists will delve into whether we should address rare diseases one at a time or adopt an omics approach, and how AI-based methods are transforming diagnostics now and in the future. We address what it will take to see widespread adoption of augmented support technologies and how we can expedite this process. Join us for an insightful discussion on the future of rare disease diagnosis, featuring expert perspectives on the challenges, innovations, and necessary steps for transformative change.

Evidence of a therapy's efficacy and safety is crucial for decision making by a patient's physician, but particular problems exist for generating evidence in patients with rare diseases. Tune in to hear more about how new ideas and approaches are changing the way we look at the totality of evidence for rare disease therapies.

The value of real world data and evidence, alongside traditional clinical trial evidence, has been increasingly recognized in the healthcare community. Tune in to hear about how we can incorporate real world data in our decision-making, particularly in the area of rare diseases where data are more difficult to generate.

RNA interference is a fundamental mechanism in gene regulation and has opened the door to groundbreaking advancements in medicine. Tune in to listen to this inspirational discussion on the discoveries and the journey which led to a Nobel Prize.

As leader in rare diseases, Sanofi is involved in significant efforts to shorten the long journey rare disease patients undergo to receive an accurate diagnosis. This discussion will showcase the work of the Global Commission a multidisciplinary group dedicated to support and amplify innovative efforts to shorten the rare disease diagnostic odyssey. Hear how these innovators are driving change to shorten the diagnostic odyssey in policy, equipping healthcare providers and empowering patients and families. Learn why both a global advocacy effort supporting a World Health Assembly Resolution on Rare Diseases and a free AI tool designed to assist patients, caregivers, and providers in reporting and analyzing symptoms are critical to help patient with rare diseases to reach diagnoses more quickly. After the recording of this podcast, the Resolution on Rare Diseases was adopted at the 78th World Health Assembly on 24 May 2025.

Home - Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease (26) Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease: Posts | LinkedIn https://www.rarediseasesinternational.org/wha-resolution-on-rare-diseases-adopted/ Foundation 29 DxGPT: Revolutionizing Medical Diagnostics with AI

Traditional NBS uptake has been slow, now new technology is launching pilot projects in NBS by genome sequencing for hundreds of treatable diseases. In this podcast we will discuss the future of NBS including opportunities and barriers to implementation.

Gain unique insights from world class leaders in guideline development on how a framework is chosen to develop clinical practice guidelines in rare and what should be done to accept more patients and caregivers experience in the process. Listen to discussions that will make you rethink engagement with stakeholders and why we need to go beyond healthcare professionals when advocating for a more fit for purpose guidelines for rare.

Tune in to hear all about the activities being undertaken by the HTAi Rare Disease Interest Group to advance knowledge and challenge the status quo in health technology assessment for rare diseases. Listen to key projects leaders developing novel practices in evidence generation, realistic assessment processes, and fair appraisal processes for the rare disease HTA community.