Rare diseases are complex medical disorders that are notoriously difficult to diagnose because many present with a wide variety of symptoms that can overlap with more common illnesses. Currently, ...
Researchers developed DeepRare, an LLM-driven multi-agent diagnostic system that integrates clinical descriptions, phenotype ...
GENA highlights how AI and genomic intelligence transform rare disease identification, speeding diagnosis and improving ...
Scientific advances and cutting-edge technologies are reshaping how rare diseases are diagnosed and treated, bringing new ...
The milestone is being celebrated as a “huge moment” for rare disease drug development.
Rare lung diseases affect people nationwide, yet many patients go undiagnosed or misdiagnosed for years. One rare lung disease that illustrates the challenges of timely diagnosis is autoimmune pulmona ...
The FDA has rejected a rare blood disease candidate from Disc Medicine, a compound that been granted expedited review through ...
This Rare Disease Day, observed on Feb. 28 worldwide, the American Kidney Fund is committed to improving the understanding of rare kidney diseases by providing educational resources.
Our inbox has been flooded with emails from viewers and readers who told us how their lives have been affected by rare ...
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High-cost rare disease drugs challenge Norwegian health priorities
New medical developments make it possible to treat an increasing number of severe and rare diseases with novel, high-cost pharmaceuticals. At the same time, there are limited resources. The aim of ...
Families and advocates will gather Feb. 28 to spotlight rare diseases and connect those impacted in Southern Arizona.
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