Tagged with Patients

USA Nasha Fitter, a tech entrepreneur and CEO of the FOXG1 Research Foundation, discusses the radical shift in drug development led by a new generation of sophisticated parent-entrepreneurs. Following her daughter’s diagnosis with the ultra-rare neurodevelopmental disorder FOXG1 syndrome, Fitter co-founded the FOXG1 Research Foundation and Citizen Health. Her mission: to…

France France’s patient advocacy network is one of Europe’s most well-developed and formalised. Patient advocacy groups – including the three featured below – fill in research, care, and support gaps left by private industry and the state while elevating the concerns of the most important people within healthcare: patients and their…

USA Patients and carers with lived experience of a disease have valuable insights to share with physicians and drug developers alike. This is especially true of rare diseases, defined in the US as those that affect fewer than 200,000 people nationwide and which collectively impact over 30 million Americans. For these…

USA Founded to tackle one of the most persistent blind spots in rare disease policy, the Rare Access Action Project (RAAP) focuses on what happens after FDA approval, when therapies meet the realities of coverage, reimbursement and real-world access. Led by Executive and Founder Michael Eging, RAAP brings together patient organisations,…

USA At a moment when rare disease policy, diagnostics, and patient-driven research are converging, Danielle Carnival sets out a clear vision for the role of the Undiagnosed Diseases Network Foundation. Drawing on her experience across neuroscience, federal health policy, and patient-led organisations, she explains how UDNF operates upstream of diagnosis, addressing…

France Born from personal tragedy, Imagine for Margo has evolved into a pan-European force reshaping how childhood cancers are researched, funded, and brought to the policy agenda. Drawing on a parent’s perspective, Patricia Blanc explains how precision medicine, cross-border collaboration, and sustained advocacy can compress timelines and reduce inequality in rare…

France Kyowa Kirin’s new head for France and Benelux steps into the role at a time when rare diseases, regulatory expectations and scientific modalities are all shifting at speed. In this interview, Aurelie-Anne Chausse reflects on the recent strategic transition toward a fully rare-disease-focused organisation, the growing pressure to identify patients…

USA Charlene Son Rigby, CEO of Global Genes, shares her insights on the rapidly evolving rare disease landscape. She highlights exciting developments such as patient-driven research and development and the future potential of platform technologies and individualized medicines. Drawing from her personal experience, Charlene also emphasizes the critical importance of ongoing…

USA Michael Pearlmutter, CEO of the EveryLife Foundation for Rare Diseases (the EveryLife Foundation), brings a deeply personal motivation and commitment to driving meaningful change for the rare disease community. In this conversation, Pearlmutter reflects on the Foundation’s mission, its impact across the rare disease ecosystem, and the evolving opportunities to…

Brazil Rare diseases have long fallen through the cracks of Latin America’s health systems, but few figures have done more to change that reality than Toni Daher. What started as a father’s search for answers became Casa Hunter and, later, Casa dos Raros – a model of integrated, data-driven rare disease…

France Francois LAMY, Vice President of AFM-Téléthon and father of a child with Duchenne muscular dystrophy, shares how the organisation grew from a family-led initiative into a major force in rare disease research and advocacy. He highlights AFM’s role in launching Genethon and advancing gene therapy, while criticising the lack of…

France France Alzheimer’s Joel Jaouen and Benoit Durand articulate a comprehensive strategic framework for addressing one of Europe’s most pressing healthcare challenges. With four decades of operational excellence, the organisation has evolved from a grassroots family initiative into France’s premier associative research funder, developing sophisticated care pathways whilst advocating for systemic…