MOUNTAIN VIEW, Calif., Sept. 30, 2013 (GLOBE NEWSWIRE) -- Complete Genomics, Inc. (formerly NASDAQ: GNOM) ("Complete"), a wholly-owned subsidiary of BGI-Shenzhen, a leading international genomics organization based in Shenzhen, China, today announced that its highly-accurate whole genome sequencing technology played a pivotal role in identifying a point mutation that causes Prader-Willi Syndrome (PWS). That discovery helped resolve a diagnostic conundrum for four young male patients. These data were published today in Nature Genetics.
A photo accompanying this release is available at http://www.globenewswire.com/newsroom/prs/?pkgid=21224
PWS is a rare genetic disorder that causes poor muscle tone, low levels of sex hormones, and a constant feeling of hunger, according to the Eunice Kennedy Shriver National Institute of Child Health and Human Development
. As a result, people with this condition tend to overeat, leading to obesity.
The first patient in this study was tested for PWS when he was one year old, but the result was negative. Over the next 12 years, he began to manifest some, but not all, of the typical PWS symptoms.
Then the patient met with paper author Dr. C. Thomas Caskey
, who was director and chief executive officer of the Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases
, part of the University of Texas Health Science Center at Houston
. Dr. Caskey has since joined Baylor College of Medicine
as professor of molecular and human genetics.
It was Dr.Caskey who referred the patient to Dr. Christian Schaaf
, an assistant professor of molecular and human genetics at Baylor College of Medicine
, and faculty member at the Jan and Dan Duncan Neurological Research Institute
at Texas Children's Hospital
, a co-lead author on the paper. Dr. Schaaf evaluated the patient and confirmed the earlier findings. Dr. Schaaf then used Complete's highly-accurate whole genome sequencing service to determine the genetic basis of his patient's symptoms.