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Latest Medical genetics Stories

2014-02-04 16:28:13

Parabase Genomics and the UCLA Clinical Genomics Center Selected as Pilot Partners ALISO VIEJO, Calif., Feb. 04, 2014 /PRNewswire-USNewswire/ -- Eight years. That's the average amount of time patients wait to receive an official medical diagnosis when facing a rare genetic disease. The stress this medical diagnostic process places on families can be devastating. This year, undiagnosed rare disease patients will receive a gift of hope through an innovative whole genome sequencing pilot...

2014-02-04 11:25:13

Genetic testing of embryos for a fatal inherited neurodegenerative disorder allowed a woman to selectively implant two mutation-free embryos and conceive healthy twins, what researchers call the first case of in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) to prevent genetic prion disease in children, according to a case report by Alice Uflacker, M.D., of Duke University, Durham, N.C., and colleagues. The 27-year-old woman is a carrier of the F198S mutation for...

2014-02-04 08:35:10

- Canadian PKU and Allied Disorders encourages governments to fund PKU treatment tools as outlined by guidelines to improve outcomes in 2,000 Phenylketonuria patients - TORONTO, Feb. 4, 2014 /CNW/ - Canadian PKU and Allied Disorders (CanPKU) is extremely pleased with the clinical practice guidelines designed for the rare, inherited brain-threatening metabolic disorder Phenylketonuria (PKU), affecting about 2,000 Canadians, published online by the American College of Medical...

2014-01-22 12:11:01

Genetic counseling delivered over the telephone is as effective as face-to-face counseling, finds the largest randomized study to date comparing the two methods. The multi-center study, led by researchers at Georgetown Lombardi Comprehensive Cancer Center, was reported today in the Journal of Clinical Oncology. The landscape of genetic testing has broadened to include a range of diseases, and demand for testing and counseling has greatly increased because of direct-to-consumer marketing,...

2014-01-20 23:04:09

GIA announces the release of a trend report on Designer Babies. The concept of Designer Babies is gaining in popularity driven by developments in genetic engineering that help scientists to screen embryos for genetic disorders to artificially make babies with desired personal and genetic traits. San Jose, California (PRWEB) January 20, 2014 Follow us on LinkedIn – Designer babies are defined as babies with artificial genetic makeup selected through a combination of genetic engineering...

Eye Gene Therapy
2014-01-16 09:44:41

Brett Smith for redOrbit.com - Your Universe Online A newly developed genetic therapy for treating a type of inherited blindness called choroideremia is showing some promise and allowing patients to see incrementally more than they had before the treatment, according to a new report in The Lancet. Six patients in the study had one eye treated with the gene therapy in operations at the Oxford Eye Hospital in the United Kingdom. After six months, the treated eye showed improved vision in...

2014-01-14 23:04:55

Houston area pharmacogenomics lab utilizes regional health information network to ensure broad provider access to genetic profiles. Houston, Texas (PRWEB) January 14, 2014 Healthconnect announced today that it has become one of the first health information networks in the country to sign-on a pharmacogenomics lab, Companion Dx, for the broad dissemination of genetic test results. By making archived records available through Healthconnect, Companion Dx can ensure that genetic information...

2014-01-14 12:26:51

Spark CEO provides corporate updates at the J.P. Morgan Conference SAN FRANCISCO, Jan. 14, 2014 /PRNewswire/ -- Spark Therapeutics, a late-stage gene therapy company, has reached its patient recruitment goal for its most advanced clinical program, a Phase 3 study for inherited retinal dystrophies caused by mutations in the RPE65 gene. Spark's CEO, Jeffrey D. Marrazzo, is presenting this and other corporate updates today, at the 32nd Annual J.P. Morgan Healthcare Conference in San Francisco....

2014-01-09 08:29:33

Joseph La Barge and Carol Greve-Philips expand business operations PHILADELPHIA, Jan. 9, 2014 /PRNewswire/ -- Spark Therapeutics, a late-stage, fully integrated company developing gene-based medicines for a wide range of debilitating diseases, announced today that it has expanded its leadership team through the addition of two industry veterans, Joseph La Barge and Carol Greve-Philips, who have extensive track records successfully growing biotech businesses. Joseph La Barge has...

2014-01-06 12:24:34

Clinical Chemistry Women's Health Issue Explores the Ethics of Genetic Testing for Reproduction WASHINGTON, Jan. 6, 2014 /PRNewswire-USNewswire/ -- Jodi Picoult's 2004 novel My Sister's Keeper became a bestseller by exploring the fate of a young girl who is genetically engineered to be a donor match for her cancer-stricken older sister. My Sister's Keeper is fiction, but it is based on the reality of preimplantation genetic diagnosis (PGD). A new Q&A in the "Advancing Women's...


Word of the Day
cenobite
  • One of a religious order living in a convent or in community; a monk: opposed to anchoret or hermit (one who lives in solitude).
  • A social bee.
This word comes from the Latin 'coenobium,' convent, which comes from the Greek 'koinobios,' living in community.
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