Gene maps help spot disease -

Gene maps help spot disease

Maps promise to transform medical science: experts


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.


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