Chuck Bednar for redOrbit.com Your Universe Online Scientists at the Baylor College of Medicine Medical Genetics Laboratories and the UCLA Clinical Genomics Center are at the forefront of a new technique that could be a powerful tool for diagnosing rare genetic conditions. The technique is known as whole-exome sequencing and involves using cutting edge sequencing techniques to analyze the coding regions or exomes of thousands of genes at the same time, Baylor researchers Dr. Yaping Yang, Dr. Christine M. Eng and their colleagues explained in a recent edition of the Journal of the American Medical Association (JAMA). Sequencing a patients exome and comparing it to a normal reference sequence allows researchers to identify variations in that individuals DNA sequence. Those variations can then be related back to the patients health issues in an attempt to locate the specific genetic cause of that medical condition, the authors added. The researchers studied a group of 2,000 patients that had been referred for evaluation of suspected genetic conditions, and found that the use of whole-exome sequencing led to the discovery of a molecular diagnosis (meaning that a genetic mutation or variation associated with a specific disease) in roughly 25 percent of them. The … Continue reading →

Women of Latin American descent, particularly those with indigenous ancestry, may carry a genetic variant that protects them from breast cancer. Previous epidemiological studies have shown that Latinas seem to be less susceptible to developing breast cancer than women of other ethnicities. Now an international group of scientists, led by UCSF researchers, have identified the spot on the DNA sequence responsible for that protective effect. The research is still a long way from making testing for the variant available. Scientists still have a lot more work to do to figure out what the variant means and exactly how it interacts with the body to reduce breast cancer risk. Its good news in a very general sense. But ... I dont think anyone should stop mammograms because of the variant, said Laura Nejerman, lead author of the study published earlier this week and assistant professor of medicine at UCSF. Now what we are trying to do is think of how best to incorporate this genetic information with other risk-factor information to better provide a picture of breast cancer risk. But the discovery highlights the existence of genetic risk factor differences between racial groups and ethnicities, and the advent of genome decoding … Continue reading →

Contact Information Available for logged-in reporters only Newswise A 26-year-old woman paralyzed after a motor vehicle accident a year ago has successfully undergone a first-in-human experimental procedure to test whether neural stem cells injected at the site of a spinal cord injury is safe and could be an effective treatment. The procedure, conducted on Sept. 30 under the auspices of the Sanford Stem Cell Clinical Center at UC San Diego Health System and in collaboration with Neuralstem, Inc., a Maryland-based biotechnology firm, is the first of four in the Phase I clinical trial. Post safety testing, its hoped that the transplanted neural stem cells will develop into new neurons that bridge the gap created by the injury, replace severed or lost nerve connections and restore at least some motor and sensory function. The patient, whose identity remains confidential for privacy reasons, has been discharged and is recovering without complication or adverse effects at home, said Joseph Ciacci, MD, principal investigator and neurosurgeon at UC San Diego Health System. The spinal cord injury trial is one of three recent ground-breaking stem cell efforts at UC San Diego, supported by the Sanford Stem Cell Clinical Center, to make the significant leap from … Continue reading →