Latest Medical genetics Stories
SAN JOSE, CA, April 6, 2013 /PRNewswire/ - The American College of Medical Genetics (ACMG) issued a position statement to support the use of non-invasive prenatal screening (NIPS) in women with singleton pregnancies. The statement can be found at this link: http://www.acmg.net/docs/nips-GiM_galley_text_130301.pdf (Logo: http://photos.prnewswire.com/prnh/20130225/SF62999LOGO) The statement clearly emphasizes NIPS as a screening, and not diagnostic, test. It goes on to highlight...
Penn State Science — Eberly College of Science Children with autism have increased levels of genetic change in regions of the genome prone to DNA rearrangements, so called "hotspots," according to a research discovery to be published in the print edition of the journal Human Molecular Genetics. The research indicates that these genetic changes come in the form of an excess of duplicated DNA segments in hotspot regions and may affect the chances that a child will develop autism -- a...
BETHESDA, Md., March 28, 2013 /PRNewswire-USNewswire/ -- The American College of Medical Genetics and Genomics (ACMG) recently announced that six new directors have been elected to its Board. The Board of Directors are active participants in serving as advocates for the ACMG and for advancing its policies and programs. "It's a momentous time in medical genetics and genomics. We are excited to add these exemplary individuals to our Board," said Michael S. Watson, PhD, FACMG, ACMG...
BETHESDA, Md., March 28, 2013 /PRNewswire-USNewswire/ -- Gail E. Herman, MD, PhD, FACMG of Columbus, Ohio, is the new president of the American College of Medical Genetics and Genomics (ACMG), the national professional organization for clinical genetics professionals. Dr. Herman takes over from Wayne W. Grody, MD, PhD, of Los Angeles, Calif., who completed his two-year term at the 2013 Annual Clinical Genetics Meeting in Phoenix, AZ, in March. "I've been doing clinical genetics...
Brett Smith for redOrbit.com - Your Universe Online An international team of researchers has found that men who have children later in life are more likely to have grandchildren with autism. According to the team’s report in JAMA Psychiatry, older men may inadvertently pass on ‘silent mutations’ that increase the risk of disease in their grandchildren. These mutations have no apparent impact on the fathers' own children, but there may be a cumulative interactive effect that could...
Fragile X syndrome is the most common inherited cause of intellectual disability and autism AUSTIN, Texas, March 21, 2013 /PRNewswire/ -- Asuragen Inc., a leading molecular diagnostics company, today announced results from a study demonstrating that a new molecular test called Xpansion Interpreter(®) can improve the determination of a woman's risk of having a child with fragile X syndrome, the most common inherited cause of intellectual disability and autism, compared to existing...
Isis to host an investor event and live webcast at 7:30 am PT on Thursday, March 21 in San Diego CARLSBAD, Calif., March 20, 2013 /PRNewswire/ -- Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) announced that data from the Phase 1 study of ISIS-SMN(Rx) in children with spinal muscular atrophy (SMA) were presented today at the 65(th) American Academy of Neurology (AAN) Annual Meeting by Dr. Claudia Chiriboga, from Columbia University Medical Center. In the presentation, Dr. Chiriboga...
BOSTON and GREENWOOD, S.C., March 19, 2013 /PRNewswire/ -- Cartagenia, the world leader in providing genetic labs and clinicians software-based workflow support for variant assessment, lab reporting, and integration of diagnostic knowledge-bases, announced today that it has signed a license agreement for its BENCHlab NGS and CNV solutions with South Carolina-based Greenwood Genetic Center, a non-profit institute that provides clinical genetic services and diagnostic laboratory...
Tool lets any clinician contribute information about patients for analysis A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene. As described in an article in the May issue of Human Mutation, the database, known as PhenoDB, enables any clinician to document cases of unusual genetic diseases for analysis by researchers at the Johns Hopkins University School of Medicine or the Baylor...
The following research from Columbia University Medical Center and NewYork-Presbyterian Hospital is being presented at the 65th annual meeting of the American Academy of Neurology (AAN), March 16-23, 2013, in San Diego. For additional information, or to arrange an interview, please contact Karin Eskenazi at 212-342-0508 or ket2116@columbia.edu, or Christina Stolfo at 212-305-5587 or chs9135@nyp.org ORAL PRESENTATIONS Deoxypyrimidine Monophosphates Treatment for Thymidine Kinase 2...
