John Wallace explains how an opportunity to take part in a WGS study to diagnose his son gave answer s to an undiagnosed condition his wife had been living with for 40 years.
Genomics will change what patients expect from their provider, as well as change how physicians treat them. Before this happens, education on both sides is needed. This month we look at some of the big talking points.
Although a disease may be rare, patients and families share a common struggle. Zoe Gale tells us about the challenges she faced when diagnosed with a rare disease.
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.
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.
“How Can We Anticipate and Respond to Technologies and Information That is Rapidly Changing?” – Josephine Johnston
Josephine Johnston is an expert on the ethical, legal and policy implications of biomedical technologies, particularly as used in human reproduction, psychiatry, genetics, and neuroscience.
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.
The technology used by Facebook, Google and Amazon to turn spoken language into text, recognize faces and target advertising could help doctors combat one of the deadliest killers in American hospitals.
FDA Commissioner Scott Gottlieb said he will do everything “within my lane” to combat high drug prices and that he sees drug companies “gaming the system to try to block competition” in a multitude of ways in the marketplace.
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.