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Latest Genetic disorders Stories

2012-05-02 10:26:17

SUNY Downstate Researcher Looks to Gene Mutations for Answers BROOKLYN, N.Y., May 2, 2012 /PRNewswire-USNewswire/ -- Charles Abrams, M.D., Ph.D., associate professor of neurology and director of the Neuromuscular Division at SUNY Downstate Medical Center, has been awarded a three-year grant totaling $414,787 by the Muscular Dystrophy Association, the premier health organization dedicated to preventing and treating muscle-wasting diseases. The grant will fund Dr. Abrams' research on the...

2012-05-02 13:29:29

Work by IRB Barcelona researchers will further the study of neurodegenerative diseases such as Lafora progressive myoclonic epilepsy Collaborative research by groups headed by scientists Joan J. Guinovart and Marco Milán at the Institute for Research in Biomedicine (IRB Barcelona) has revealed conclusive evidence about the harmful effects of the accumulation of glucose chains (glycogen) in fly and mouse neurons. These two animal models will allow scientists to address the...

2012-05-02 11:39:49

People with good hearing also have a keen sense of touch; people with impaired hearing generally have an impaired sense of touch. Extensive data supporting this hypothesis was presented by Dr. Henning Frenzel and Professor Gary R. Lewin of the Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch, Germany. The two researchers showed that both senses — hearing and touch — have a common genetic basis. In patients with Usher syndrome, a hereditary form of...

2012-05-02 06:25:11

SAN DIEGO, May 2, 2012 /PRNewswire/ -- Synteract, Inc., a full-service contract research organization (CRO), and Rempex Pharmaceuticals, a biopharmaceutical company developing new therapies to combat the growing issue of antibiotic resistance, have partnered for the third annual Great Strides fundraising walk to benefit the Cystic Fibrosis (CF) Foundation through participation and donations. Synteract and Rempex (on behalf of Aptalis Pharma) are also working together on clinical trials to...

2012-05-01 06:27:22

BALTIMORE, May 1, 2012 /PRNewswire/ -- Alba Therapeutics Corporation today announced that it was granted a certificate of registration for copyright of the first and only Patient Reported Outcome (PRO) questionnaire for patients with Celiac Disease (CeD). The CeD PRO questionnaire will be used as part of Alba's clinical trial program evaluating its investigational compound larazotide acetate, a novel agent belonging to a new class of drug known as a tight junction regulator. "The CeD PRO...

2012-05-01 06:25:37

FBR Media's heartfelt television show about two children living with a rare and fatal genetic disease, called Niemann-Pick Type C, nominated for Emmy® Award WASHINGTON, May 1, 2012 /PRNewswire-USNewswire/ -- FBR Media announced today its television show "SurvivorTales: Niemann-Pick Type C" is nominated for a 2012 Emmy® Award in the documentary category of the National Academy of Television Arts and Sciences' Lower Great Lakes Chapter competition. "SurvivorTales: Niemann-Pick...

2012-04-30 06:24:42

CHICAGO, April 30, 2012 /PRNewswire/ -- Today Ronald L. Chez, owner of 9.2% of Repligen Corporation (Nasdaq: RGEN), issued the following statement: "As a result of my constructive recent conversation with Karen Dawes, Chairperson of Repligen's Board, I plan to discuss my proxy proposal regarding the reduction from 50% to 20% of outstanding shares, to call a special meeting." In addition, "I plan to discuss strategic alternatives for Repligen in light of the positive Phase 1 results of 3039...

2012-04-30 10:54:23

MR enterography is superior to CT enterography in diagnosing fibrosis in pediatric patients with Crohn disease and equally as good as CT enterography in detecting active inflammation, and a new study shows. The study, conducted at Massachusetts General Hospital in Boston, found that MR enterography was 77.6% accurate in depicting fibrosis compared to 56.9% for CT enterography. MR enterography had an 82.1% accuracy rate versus 77.6% accuracy rate for CT enterography for detecting active...

2012-04-30 00:20:05

Singapore, Apr 30, 2012 - (ACN Newswire) - Scientists have discovered that they can dramatically increase the life span of mice with progeria (premature ageing disease) and heart disease (caused by Emery-Dreifuss muscular dystrophy) by reducing levels of a protein called SUN1. This research was done by A*STAR's Institute of Medical Biology (IMB) in collaboration with their partners at the National Institute of Allergy and Infectious Diseases in the United States and the Institute of Cellular...

2012-04-27 11:28:14

The following research from NewYork-Presbyterian Hospital/ Columbia University Medical Center is being presented at the 64th annual meeting of the American Academy of Neurology (AAN), April 21-26, 2012, in New Orleans. ORAL PRESENTATIONS Dynamic Cerebral Autoregulation Is Transiently Impaired after Large-Vessel Acute Ischemic Stroke Authors: Nils Petersen, Santiago Ortega-Gutierrez, Andres Reccius, Amy Huang, Arjun Masurkar, and Randolph Marshall Background/Significance: Dynamic...


Latest Genetic disorders Reference Libraries

44_b4e6022f2dde476f8bd4cab961972a2d
2007-12-13 19:44:51

The Munchkin is a fairly new breed of cat with a lot of controversy surrounding it. The breed is created by a mutation that causes achondroplasia, or hypochondroplasia, which results in the cats having abnormally short legs. The breed originated when a pregnant, short-legged black cat was discovered in Louisiana in 1983. One of her kittens, a tomcat, became the father of the breeding program for Munchkins. Several cat registries refuse to recognize the breed due to the controversy that...

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