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 ...

A new study published in PLOS Genetics has identified an extreme mutational hotspot within the genome of Pseudomonas ...

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 ...

You may scarcely notice it, but much of what you do every day requires your brain to engage in perceptual learning. To safely ...

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 ...

Polydactyly, a condition with extra fingers or toes, is linked to GLI3 gene mutations. Often harmless, it can enhance motor skills. Hrithik Roshan and Swapna Barman embrace it.