A new research project focusing on rare genetic mutations that are linked to cystic fibrosis just received $600,000 in ...

Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases ...

Early research shows a one-time gene therapy has potential for addressing both the liver and lung disease that patients with ...

While both are called medullary carcinoma, these cancers differ in many ways: ...

Genetics plays a crucial role in the manifestation and progression of over 6,800 rare diseases, including but not limited to, genetic disorders, rare ...

Jordan Addams, 29, recently quit his job for a heartbreaking reason and has made it his life's mission to help to find a cure ...

POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.

X-linked severe combined immunodeficiency disease (X-SCID) is a rare genetic disorder characterized by profound defects in ...

Deacon Brady, a young boy with Developmental Epileptic Encephalopathy 41 (DEE41), a rare genetic mutation, is the focus of a fundraising effort to acquire a specialized bicycle that accommodates his ...

Diagnosis of PDB is a combination of clinical evaluation, imaging and histopathological assessment. If an underlying cancer ...

Jordan Adams - one half of The FTD Brothers - has revealed his 'big dream' since quitting his job following his diagnosis ...

Two more people have been potentially cured of HIV after receiving stem cell transplants to treat blood cancer or bone marrow ...