Reuters) - Two studies published on Wednesday show it is possible to sequence the entire gene maps of families with inherited diseases and pinpoint the offending bit of DNA.
The studies, which would not have been possible a year or two ago, are the first real delivery of the promised transformation of medical science from the Human Genome Project's mapping of the human genetic code.
One was also made possible by some of the $5 billion that U.S. President Barack Obama directed to the National Institutes of Health in September from the $787 billion economic stimulus package.
And in that study, the genetic researcher was himself one of the patients.
Dr. James Lupski of the Baylor College of Medicine in Houston has a recessive genetic disease called Charcot-Marie-Tooth syndrome. It affects the nerves stretching from the spinal cord to the arms, legs and feet.
Lupski has been experimenting on himself and his own family for years.
We tried every other method for 25 years to find out which mutation was important," he said in a telephone interview.
"With this methodology we were able to do it. This is the first time whole genome sequencing has applied to actually find the cause of a disease."
Personal study shows gene maps can spot disease | Reuters
The studies, which would not have been possible a year or two ago, are the first real delivery of the promised transformation of medical science from the Human Genome Project's mapping of the human genetic code.
One was also made possible by some of the $5 billion that U.S. President Barack Obama directed to the National Institutes of Health in September from the $787 billion economic stimulus package.
And in that study, the genetic researcher was himself one of the patients.
Dr. James Lupski of the Baylor College of Medicine in Houston has a recessive genetic disease called Charcot-Marie-Tooth syndrome. It affects the nerves stretching from the spinal cord to the arms, legs and feet.
Lupski has been experimenting on himself and his own family for years.
We tried every other method for 25 years to find out which mutation was important," he said in a telephone interview.
"With this methodology we were able to do it. This is the first time whole genome sequencing has applied to actually find the cause of a disease."
Personal study shows gene maps can spot disease | Reuters
