Medscape
Gene mutation linked to irritable bowel syndrome in some patients
Approximately 2% of patients with irritable bowel syndrome (IBS) have a mutation of the SCN5A gene that disrupts sodium channel ...
Patient cracks her own mysterious diagnosis by studying her genetics
Kim Goodsell started noticing physical ailments about 20 years ago, when she was in her 30s and training for an ...
More complete story of BRCA1 and ovarian cancer
Hello. I'm Dr. Maurie Markman from Cancer Treatment Centers of America in Philadelphia. I wanted to briefly discuss an interesting ...
Whole-exome sequencing IDs disorders when other tests fail
When all else fails, whole-exome sequencing (WES) may succeed at nailing down a tough diagnosis, say investigators. A new review ...
No need for genetic testing for most thyroid cancers
The following is an excerpt. In the majority of patients with papillary thyroid cancer, the most common form of thyroid ...
Detecting genetic disorders in the unborn
The following is an edited excerpt. It is now possible to sequence the entire genome of an unborn baby with ...
