Gene maps help spot disease

When the Human Genome Project mapped the genetic code, it promised to transform medical science, and two new studies mark the first real delivery of that: they show it’s possible to sequence the entire genes of families with inherited diseases and find faulty bits of DNA, which would not have been possible even a year or two ago. In one study, genetic researcher Dr. James Lupski of the Baylor College of Medicine in Houston experimented on himself and his family (he has a recessive genetic disease called Charcot-Marie-Tooth syndrome, which affects the nerves). With this methodology, which he calls “the first time whole genome sequencing has applied to actually find the cause of a disease,” he was able to find out which mutation was important. The sequencing revealed a gene called SH3TC2; other groups are now working on a drug that could affect that gene. Experts credited stimulus money, part of the $5 billion U.S. President Barack Obama marked for the National Institutes of Health in September. The second study saw the entire genomes of a family of four affected by Miller syndrome, which can cause facial disfigurement, and primary ciliary dyskinesia, a lung disorder.

Reuters