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 ...

Advocacy groups urge Health Ministry to intervene urgently in delayed funding for rare disease treatments, impacting patients ...

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

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

The daughter of a Kent County sheriff’s deputy who is fighting a rare genetic disorder will benefit from this year’s Robert ...

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

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

The event is put on by the Grand Rapids Police Department and the Kent County Sheriff's Office. (Jan. 30, 2025) ...

The early stage company is developing a new approach to gene editing to treat rare genetic diseases. It does this using mRNA, ...

Sidra Medicine, a member of Qatar Foundation, has established a gene therapy centre to treat rare genetic diseases such as ...

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