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Last updated on April 17, 2014 at 8:50 EDT

Latest Medical genetics Stories

2012-03-29 14:21:37

Dr. Hal Dietz Receives March of Dimes Award for Lifetime Achievement in Genetic Sciences CHARLOTTE, N.C., March 29, 2012 /PRNewswire-USNewswire/ -- A pediatrician, geneticist and long-time Marfan syndrome researcher who helped identify the disorder's genetic cause, as well as a potential treatment for affected children and adults, is being honored by the March of Dimes. Harry (Hal) Dietz, MD, the Victor A. McKusick Professor of Genetics and Medicine at the McKusick-Nathans...

2012-03-29 10:24:35

BETHESDA, Md., March 29, 2012 /PRNewswire-USNewswire/ -- The American College of Medical Genetics and Genomics (ACMG) has released an important new Policy Statement on Genomic Sequencing. Released at the ACMG Annual Meeting in Charlotte, N.C., on March 28, the Policy Statement titled "Points to Consider in the Clinical Application of Genomic Sequencing" outlines general principles that are recommended as genome-scale DNA sequencing begins to be applied in the care of patients. These new...

2012-03-29 02:25:55

CHARLOTTE, N.C., March 29, 2012 /PRNewswire/ -- Lineagen, Inc., an innovative molecular diagnostics company focused on complex, genetically linked disorders, today presented clinical utilization data for Lineagen's FirstStepDx. FirstStepDx is a comprehensive evaluation service that integrates highly advanced and comprehensive genetic testing for individuals with developmental delay (DD), intellectual disability (ID), and autism spectrum disorders (ASD) with personalized pre- and post-testing...

2012-03-26 02:25:45

SAN JOSE, Calif., March 26, 2012 /PRNewswire/ -- Ariosa Diagnostics (formerly Aria Diagnostics), a molecular diagnostics company, today announced the completion of its clinical validation study for the Harmony(TM) Prenatal Test. The multi-national study represents the largest clinical study performed to date for non-invasive prenatal detection of common fetal trisomies. The test utilizes a directed, non-invasive approach to cell-free DNA (cfDNA) analysis in maternal blood. Additionally,...

2012-03-09 01:32:16

Researchers at King's College London and Hiroshima University, Japan, have identified a specific gene linked to throat cancer Researchers at King's College London and Hiroshima University, Japan, have identified a specific gene linked to throat cancer following a genetic study of a family with 10 members who have developed the condition. The study demonstrating the first evidence of a link between abnormality in this gene and an inherited form of cancer. The researchers say this finding...

2012-02-27 06:10:26

New study will enable better antenatal diagnosis for sufferers of rare blood and skeletal disorder Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that allows prenatal diagnosis and genetic counseling in affected families. The team used genetic sequencing to discover that TAR results from low levels of the protein...

2012-02-24 08:27:00

BETHESDA, Md., Feb. 24, 2012 /PRNewswire-USNewswire/ -- During the second annual ACMG Foundation Day of Caring, the ACMG Foundation (www.acmgfoundation.org), a prominent non-profit genetics foundation based in Bethesda, MD will give new bicycles and helmets to 20 children from several North Carolina genetic disease support agencies at 10:00 am in Exhibition Hall C of the Charlotte, NC Convention Center. (Photo: http://photos.prnewswire.com/prnh/20120224/DC59195) Genetics...

2012-02-16 07:30:00

PHILADELPHIA, Feb. 16, 2012 /PRNewswire-USNewswire/ -- The Victor Center for the Prevention of Jewish Genetic Diseases at Einstein Medical Center in Philadelphia has been at the forefront of screening, education and genetic counseling regarding the 19 diseases that have a high carrier rate in the Ashkenazi Jewish population, or those whose ancestors are from Central and Eastern Europe. The goal is to provide individuals who are carriers with the knowledge to prevent these diseases...

2012-02-15 06:27:00

BETHESDA, Md., Feb. 15, 2012 /PRNewswire-USNewswire/ -- Technologies that allow for the evaluation of the entire human genome have become increasingly inexpensive and show great promise in clinical application. Among the first of these technologies to move into the practitioner's clinic are the cytogenomic or chromosomal arrays that detect changes in copy number of genetic material throughout the human genome. Rare and new variations have been a part of cytogenetic analysis since its...

2012-02-10 10:26:00

NORWALK, Conn., Feb. 10, 2012 /PRNewswire/ -- UBM Medica's ONCOLOGY and CancerNetwork today announced that the April issue will feature insights by physicians from the clinical genetics service at Memorial Sloan-Kettering Cancer Center in which they explain the role of genetic testing in gastrointestinal cancers. In the article, Kenneth Offit, MD, MPH, and colleagues bring clarity to when, why--and to what end--to refer patients for genetic testing for GI cancers. Using a case-based...