A TEEN who’s been diagnosed with melanoma twice and had two brain tumours removed, all before the age of 18, has a rare ...

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Ruby-Jo Sneed, 18, was diagnosed with a rare genetic chromosome deletion after undergoing genetic testing aged 12 due to her ...

Jeremiah Marshall has lived with epidermolysis bullosa since the day he was born and has had to endure teasing at school, ...

DAVID Tennant has confirmed for the first time that he was born with a rare genetic disorder.  The 53-year-old actor opened ...

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...

Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare ...

Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the ...

Marcelo was diagnosed with Treacher Collins syndrome, a rare condition affecting facial bone structure and cartilage. The ...

Callie's doctors have used the experience of treating the girl to try and improve the diagnostic accuracy of PPA2.

Health systems across the country are making it easier for primary care clinicians to order genetic tests for patients who ...