Asembia AXS25: Balancing Innovation With Affordability Crucial for Sustainable Rare Disease Economic Models

Specialty pharmacies serving rare disease patients are struggling to maintain financial viability while providing critical high-touch clinical services that go far beyond the traditional pharmacy model, but solutions are possible, according to an expert …

DxGPT: How Microsoft’s AI is helping families find diagnoses for rare diseases

Artificial intelligence is often discussed in terms of the future, but it has already become a real hero for many families living with rare diseases. When Julián Isla’s newborn son Sergio suddenly started shaking during a bath, panic set in. What followed …

Why is SSPE not on rare disease list?, ask Parents

Parents of SSPE (disease that affects the brain) children plead for aid or reseach centre Tanesh Belkar, 15, before (right) and after contracting SSPE. Photos reproduced with the parents’ permission Even as many countries globally recognise Subacute …

Rare diseases often go undiagnosed in Africa

Ndeye Lam visits the cemetery often, praying and gently touching the seashells laid out across her daughter’s gravesite. “Mariama will always be here,” she said, stepping away from the grave and onto a path that winds through rows of monuments outlined …

How integrated real-world data helps identify and improve outcomes for rare disease patients

Rare diseases pose a significant challenge for healthcare systems, patients and pharmaceutical companies alike. The journey from symptom onset to diagnosis and treatment can take years—sometimes even decades. The scattered and often incomplete data …

New DNA technology could help identify rare pediatric diseases

April 28, 2025 2 min read Add topic to email alerts Subscribe We were unable to process your request. Please try again later. If you continue to have this issue please contact customerservice@slackinc.com. Back to Healio Key takeaways: Researchers …

Rare diseases often go undiagnosed or untreated in parts of Africa. A project seeks to change that

Audio By Carbonatix DAKAR, Senegal (AP) — Ndeye Lam visits the cemetery often, praying and gently touching the seashells laid out across her daughter’s gravesite. “Mariama will always be here,” she said, stepping away from the grave and onto a path that …

Rare diseases often go undiagnosed or untreated in parts of Africa. A project seeks to change that

Can ChatGPT detect serious diseases like cancer? Here's how AI tool alerted 27-year-old woman

A young woman from Paris claimed that ChatGPT was able to detect her blood cancer symptoms nearly a year before medical professionals could. This incident demonstrates how AI tools are increasingly being used in healthcare services. Marley Garnreiter, 27, …

Hundreds come together for Denise D’Ascenzo Foundation’s Walk to Fight Rare Diseases

HAMDEN, Conn. (WFSB) - We are remembering legendary Channel 3 anchor Denise D’Ascenzo. After her passing, her foundation created an annual walk to fight rare diseases, a cause near and dear to her. On Saturday morning, hundreds of people participated at …