First children have been diagnosed in 100,000 Genomes project

Zane C. writes: The 100,000 Genomes project, an organization dedicated to diagnosing and researching rare genetic disorders, has just diagnosed its first 2 patients. After painstakingly analyzing about 3 billion base pairs from the parents of one young girl, and the girl herself, "doctors told them the genetic abnormality — in a gene called KDM5b — had been identified". The new information will not yet change the way the young girl, named Georgia, is treated, but it opens up a path for future treatments. For the other girl, Jessica, the genetic analysis provided enough information to diagnose and begin a new treatment. A mutation had occurred "[causing] a condition called Glut1 deficiency syndrome in which the brain cannot get enough energy to function properly." Jessica's brain specifically had not been able to obtain enough sugar to power her brain cells, and as such, doctors prescribed a high fat diet to give her brain an alternate energy source. She has already begun showing improvement.