Rare diseases are complex medical disorders that are notoriously difficult to diagnose because many present with a wide ...

Even when promising clinical trials exist, and the FDA allows expanded access, rare disease patients like my granddaughter ...

As part of the EveryLife Foundation's ongoing efforts to continually enhance the event -- and informed directly by attendee feedback -- Rare Disease Week 2026 will introduce several important updates ...

By Tarun Sai Lomte A new AI-driven diagnostic framework combines clinical, genetic, and phenotypic data to help shorten the ...

Across America, millions of parents of children with rare diseases are in a race against time, hoping that new treatments will be developed fast enough to save their kids. Thanks to advances in ...

Rare diseases are complicated and communicating reliable, accessible health information around them can be even more complicated. Some conditions like RPI deficiency or Aicardi syndrome affect less ...

Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...

The global pharmaceutical industry is make huge investments in treatments for rare diseases, which once drew little interest from major drugmakers. A look at some key statistics on rare diseases: ...

ALSO HAPPENING NOW, TODAY IS RARE DISEASE DAY, 300 MILLION PEOPLE WORLDWIDE ARE LIVING WITH A RARE DISEASE. AND THIS DAY IS ALL ABOUT RAISING AWARENESS FOR THEM, THEIR FAMILIES AND CAREGIVERS. OUR ...

Our inbox has been flooded with emails from viewers and readers who told us how their lives have been affected by rare ...

The RareVoice Awards recognize individuals and organizations whose advocacy efforts have driven meaningful policy impact on behalf of the rare disease community. Awardees are selected by a committee ...

Every year, February 28 is observed as Rare Disease Day 2026 to raise awareness for patients, families and caregivers around the world affected by rare diseases ...