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 ...

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 ...

A new study published in Cell Reports reveals a breakthrough discovery linking genetic variants in the gene ITSN1 to a ...

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

The small study in patients with a rare disorder that causes liver and lung damage showed the potential for precisely ...