ForeBatten Foundation launches national campaign to fund Batten disease research This campaign turns a birthday ...

Scientific advances and cutting-edge technologies are reshaping how rare diseases are diagnosed and treated, bringing new hope to millions of patients and families. On Thursday, Feb. 24, Washington ...

New educational videos raise awareness of Cockayne Syndrome and empower families and clinicians through trusted, ...

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, ...

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

GENA highlights how AI and genomic intelligence transform rare disease identification, speeding diagnosis and improving ...

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

An international study led by researchers from the Sant Pau Research Institute (IR Sant Pau) shows that advanced use of ...

A new AI tool from China called DeepRare is now better than doctors at finding rare diseases. It is correct almost 79% of the ...

A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an injectable gel produced through 3D printing, can switch off the defective ...

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 ...

Rare growth disorders are a diverse group of uncommon conditions that affect an individual’s physical development. They may stem from genetic mutations, hormonal imbalances, or other complex factors.