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Latest Medical genetics Stories

2011-12-07 20:04:02

A four-year $16 million grant from the National Human Genome Research Institute and the National Heart, Lung and Blood Institute will enable Baylor College of Medicine and Johns Hopkins University School of Medicine to search for the cause of often rare, single-gene diseases usually called Mendelian disorders. The Baylor-Johns Hopkins Center for Mendelian Genetics will be led by principal investigator Dr. David Valle, director of the McKusick-Nathans Institute of Genetics at Johns Hopkins...

Whole Genome Testing - The Power To Help, Hurt And Confuse
2011-12-07 09:33:59

The era of widely available next generation personal genomic testing has arrived and with it the ability to quickly and relatively affordably learn the sequence of your entire genome. This would include what is referred to as the "exome," your complete set of protein-coding sequences. But as University of North Carolina at Chapel Hill medical geneticists point out, this avalanche of information also includes the totality of one's genetic mutations and as such arrives with both promise and...

2011-11-15 15:39:00

System combining gene therapy with tissue engineering could avoid the need for frequent injections of recombinant drugs BOSTON, Nov. 15, 2011 /PRNewswire-USNewswire/ -- Patients who rely on recombinant, protein-based drugs must often endure frequent injections, often several times a week, or intravenous therapy. Researchers at Children's Hospital Boston demonstrate the possibility that blood vessels, made from genetically engineered cells, could secrete the drug on demand directly into...

2011-11-15 07:30:00

PHILADELPHIA, Nov. 15, 2011 /PRNewswire/ -- When planning a wedding, couples often make a checklist that includes choosing a rabbi or other officiant, selecting a date, deciding on a location, menu, music, flowers, photographer, rings, a dress, and compiling a guest list. According to the Victor Center for the Prevention of Jewish Genetic Diseases at Einstein Medical Center in Philadelphia, before they break the glass, a couple with at least one Jewish partner should also consider...

Flies And Mice Help Scientists Get To The Heart Of Down Syndrome
2011-11-04 10:19:17

[ Watch the Video ] A novel study involving fruit flies and mice has allowed biologists to identify two critical genes responsible for congenital heart defects in individuals with Down syndrome, a major cause of infant mortality and death in people born with this genetic disorder. In a paper published in the November 3 issue of the open access journal PLoS Genetics, researchers from UC San Diego, the Sanford-Burnham Medical Research Institute in La Jolla, Calif., and the University of...

2011-10-31 15:00:00

WHITE PLAINS, N.Y., Oct. 31, 2011 /PRNewswire-USNewswire/ -- Joe Leigh Simpson, M.D., has been named senior vice president for Research and Global Programs at the March of Dimes, it was announced today. He will assume his new responsibilities on January 2, 2012. Dr. Simpson is currently executive associate dean for Academic Affairs, Florida International University (FIU) Herbert Wertheim College of Medicine, Miami. "As a scientist, geneticist, and expert in women's health issues, Dr....

2011-10-28 07:00:00

International Society for Prenatal Diagnosis recommends caution, counseling. Charlottesville, VA (PRWEB) October 28, 2011 With the 14 October 2011 release of a clinical validation study in the journal Genetics in Medicine, life sciences company Sequenom, Inc. launched a new non-invasive test for Down syndrome in the U.S., MaterniT21. Through massively parallel sequencing (MPS), a complex form of DNA sequencing, the test can detect a large proportion of Down syndrome-affected pregnancies....

2011-10-24 14:27:00

BETHESDA, Md., Oct. 24, 2011 /PRNewswire-USNewswire/ -- The American College of Medical Genetics Board of Directors has voted to add the word "Genomics" to its name, thereby changing the name to "American College of Medical Genetics and Genomics" officially to be in effect at the 2012 ACMG Annual Clinical Genetics meeting in March 2012. The ACMG acronym will remain the same. The ACMG was founded in 1991 in recognition of the importance of the genetic approach to diagnosis, management,...

2011-10-18 08:38:00

ORLANDO, Fla., Oct. 18, 2011 /PRNewswire/ -- Good Start Genetics, an innovative molecular diagnostics company developing the new gold standard for routine carrier screening in clinical practice, will announce later today positive results of a validation study of its proprietary next-generation DNA sequencing platform. In the study, to be presented at the annual meeting of the American Society for Reproductive Medicine, Good Start Genetics' sequencing test accurately...

2011-10-17 07:30:00

ATLANTA, Oct. 17, 2011 /PRNewswire/ -- On November 13, 2011, a community-wide screening for potential carriers of 19 Jewish genetic diseases will be conducted from 2 - 5:45 PM at the Marcus Jewish Community Center, located at 5342 Tilly Mill Rd in Dunwoody. Individuals must be pre-registered and may obtain information regarding insurance coverage and costs at www.atlantajewishgenescreen.org. The screening is coordinated by the Atlanta Jewish Gene Screen (AJGS), an organization funded by...