TOPIC: Patients & Members, Research
Whole genome sequencing (WGS) is the genetic test that determines the order of all 3 billion letters in a person’s DNA, and is a technology that has become well known to the rare disease community. It can reveal not only the genes responsible for production of an abnormal protein associated with a disease, but also the presence of other… Read More
TOPIC: Medical, Patients & Members, Research, Industry
Everyone in the rare disease community who watched IBM’s “Watson” computer perform on “Jeopardy” early this year probably started to wonder about the potential of “Watson-like” systems to assist doctors in accelerating the accurate diagnosis of rare and unusual medical disorders — one of the first and most critical steps in assuring quality of care. … READ… Read More
TOPIC: Featured News, Medical, Patients & Members, Research, Advocacy, Industry
FDA Commissioner Margaret Hamburg, MD, today announced a new public-private partnership to develop regulatory science that will speed patient access to new medical device technologies. This is the first public-private partnership specifically focusing on this need. (more…)
TOPIC: Featured News, Medical, Research, Industry
According to a report on the BBC News web site today, the European Commission has — for the very first time anywhere in the Western world — given final approval to market a gene therapy that corrects an inborn error of metabolism for the treatment of any type of human genetic disorder. Read More
TOPIC: Medical, Patients & Members, Research
My friend’s 18-year-old son died recently following a 6-month battle with acute myeloid leukemia. There are many different stories I could tell about Tucker’s experience that are all too familiar to those in the rare disease community: (more…)
