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Last updated on April 17, 2014 at 11:16 EDT

Latest Medical genetics Stories

2014-02-24 08:28:11

Annual Advocacy Conference Focuses on Accelerating FDA Review And Enacting MD-CARE Act Update into Law WASHINGTON, Feb. 24, 2014 /PRNewswire-USNewswire/ -- More than 100 advocates seeking to end Duchenne muscular dystrophy (Duchenne) are converging on Washington for the annual Parent Project Muscular Dystrophy (PPMD) Advocacy Conference to urge Congressional action on key legislation and to help accelerate the Food and Drug Administration's (FDA) review of candidate Duchenne...

2014-02-21 12:24:24

GREENWOOD, S.C., Feb. 21, 2014 /PRNewswire/ -- A new partnership will establish formal collaboration among genetic researchers and Clemson University faculty at the Greenwood Genetic Center and Self Regional Healthcare, expanding an already successful working relationship. Self Regional Healthcare will support the Clemson University Center for Human Genetics with a gift of $5.6 million over three years. The gift consists of an initial contribution of $2 million for the center's...

2014-02-14 23:01:58

Teams of families and friends of those affected by neuromuscular disease participated in the walk on Feb. 8 at Raymond James Stadium. Saint Petersburg, FL (PRWEB) February 14, 2014 More than $165,000 was raised at the annual MDA Tampa Bay Muscle Walk presented by APEC on Feb. 8 at Raymond James Stadium to benefit children and adults in the Tampa Bay area served by the Muscular Dystrophy Association. Teams of families and friends of those affected by neuromuscular disease participated in...

2014-02-12 08:30:24

SAN JOSE, Calif., Feb. 12, 2014 /PRNewswire/ -- Ariosa Diagnostics, Inc., maker of the Harmony(TM) Prenatal Test has received approval from the New York Department of Health, Division of Laboratory Quality Certification, to offer, market and report results of the Harmony test to healthcare providers in the State of New York. According to state statistics from 2011, New York reported over 362,000 pregnancies, underscoring the significant number of potential patients in New York who may...

2014-02-11 23:30:06

Preimplantation genetic diagnosis FISH test allows doctors to identify genetic disease in embryos. Austin, TX (PRWEB) February 11, 2014 Monti and Robert wanted children, but knew they would be at risk for Hyper IGM syndrome, a rare genetic disease that claimed the lives of three of Monti’s brothers. An obgyn referral to Texas Fertility Center reassured them that with preimplantation genetic diagnosis, PGD, they could significantly reduce the risk of passing along the inheritable...

2014-02-05 16:27:28

Only 35 percent would seek aggressive preventive treatment SALT LAKE CITY, Feb. 5, 2014 /PRNewswire-USNewswire/ -- A national poll from the University of Utah's Huntsman Cancer Institute shows 34 percent of respondents would not seek genetic testing to predict their likelihood of developing a hereditary cancer - even if the cost of the testing was not an issue. Concerns about employment and insurability were cited as the primary reason, even though current laws prohibit such...

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,...