Heather is living with epidermolysis bullosa, a genetic skin condition that causes constant pain due to unstoppable internal and external blistering. This is her story.
Diagnostics allow for the identification of cancer types and other crucial biomarkers, and are used right through from discovery to market.
The theme of Rare Disease Day 2018 is research. Rare Disease UK asked Maria, mum to Alex, what taking part in research has meant for her family.
The theme of Rare Disease Day 2018 is research. Rare Disease UK asked Sam, mum to Issy, what taking part in research has meant for her family.
There are wide differences in BRCA testing protocols at labs around the world. A new article surveyed 86 laboratories about their BRCA testing practices and found that all the labs differed widely in their approach.
Stephen Kingsmore and his team at Rady Children’s recently proved they could sequence a whole genome in a world record time of 19.5 hours.
“It’s Through Community Outreach & Education We Ensure Continued Public Commitment” – Hsiao-Tuan Chao
Hsiao-Tuan Chao is a physician-scientist in the field of child neurology, we’ve had a chat with her in this week’s Short Read.
Clinicians can be so focused on fixing problems and saving lives that they often avoid delivering news of a poor prognosis.
The number of people who have had their DNA analyzed with direct-to-consumer tests more than doubled during 2017, and now exceeds 12 million according to industry estimates.
A genomics startup co-founded by genetics pioneer George Church said yesterday that it seeks to lead the genomic data market by utilizing blockchain technology.
Reading the whole genetic blueprint of a fetus long before birth could become a routine procedure thanks to a new blood test.
A new consumer genomics test offers families immediately actionable information aimed at furthering the health of their youngest family members.