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Latest Genetic disorders Stories

2012-05-28 19:18:26

Discovery of mutation ends UCLA doctor's 20-year quest The Caterpillar got down off the mushroom and crawled away in the grass, remarking as it went, 'One side will make you grow taller, and the other side will make you grow shorter.' -Alice's Adventures in Wonderland, by Lewis Carroll UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann...

2012-05-28 19:14:33

A gene previously linked to too much growth in patients has now also been linked to growth restriction. Different forms of the gene can lead to very different conditions, according to research published today in the journal Nature Genetics. IMAGe* syndrome is a rare developmental disorder which can affect fetal growth, resulting in smaller than average body and organ size. Without treatment, the disorder can have potentially life-threatening consequences from adrenal gland failure. The...

2012-05-27 23:00:02

"Muscle atrophy is a major problem with arthritis is now being treated at he Center for regenerative Medicine," according to A.J. Farshchian MD from the Center for Regenerative Medicine. Miami, FL (PRWEB) May 26, 2012 Muscle atrophy a major problem with arthritis, could be treated with regenerative medicine, according to A.J. Farshchian MD from the Center for Regenerative Medicine. Muscle atrophy also known as Muscle wasting Is common in arthritis and is usually due to loss of muscle tissue...

2012-05-24 21:23:11

Severe combined immunodeficiency is defect in the immune system that results in a loss of the adaptive immune cells known as B cells and T cells. Mutations in several different genes can lead to the development of severe combined immunodeficiency, including mutation of the adenosine deaminase (ADA) gene. Traditional treatment options, such as enzyme replacement therapy, are of limited efficacy, but bone marrow transplant from a compatible donor leads to a better response. A recent clinical...

2012-05-24 06:28:45

HACKENSACK, N.J., May 24, 2012 /PRNewswire-USNewswire/ -- As the U.S. Senate continues debate on legislation that seeks to accelerate delivery of safe and effective therapies to patients and to increase the patient voice as part of the therapy review process, Parent Project Muscular Dystrophy (PPMD) is pleased to offer its enthusiastic endorsement of the legislation. (Logo: http://photos.prnewswire.com/prnh/20100119/DC39975LOGO) Over the past several months, PPMD - the leading...

2012-05-24 06:28:41

SAN DIEGO, May 24, 2012 /PRNewswire/ -- Sangart, Inc., a global biopharmaceutical company dedicated to developing and commercializing targeted rescue therapies for patients in acute ischemic crisis, today announced that it recently received $50 million in additional equity funding from existing investor, Leucadia National Corporation. This funding was made upon the exercise of Series G preferred stock warrants previously held by Leucadia and brings the total funding raised by the company...

2012-05-23 18:57:57

Mutated and intact proteins of the cytoskeleton form abnormal aggregates Malformed desmin proteins aggregate with intact proteins of the same kind, thereby triggering skeletal and cardiac muscle diseases, the desminopathies. This was discovered by researchers from the RUB Heart and Diabetes Center NRW in Bad Oeynhausen led by PD Dr. Hendrik Milting in an interdisciplinary research project with colleagues from the universities in Karlsruhe, Würzburg and Bielefeld. They report...

2012-05-23 17:12:50

Children born with cleft lip, cleft palate and other craniofacial disorders face numerous medical challenges beyond appearance. Patients can face serious airway, feeding, speech and hearing problems, as well as social and psychological challenges, Laura Swibel Rosenthal, MD, of Loyola University Medical Center and colleagues write in the June 2012 issue of Otolaryngologic Clinics of North America. "The management of patients with craniofacial syndromes is complex," Rosenthal and...

2012-05-23 02:25:38

SAN JOSE, Calif., May 23, 2012 /PRNewswire/ -- Ariosa Diagnostics, a molecular diagnostics company, announced today the publication of a study that provides more information on the factors which may influence the amount of fetal DNA found in maternal blood. The study was led by Professor Kypros Nicolaides, MD, of Harris Birthright Research Centre for Fetal Medicine at King's College Hospital in the United Kingdom. (Logo: http://photos.prnewswire.com/prnh/20120326/NY75864LOGO ) The study...

2012-05-22 02:27:43

NEWTON, Mass., May 22, 2012 /PRNewswire/ -- Halo Therapeutics, LLC, a clinical-stage biopharmaceutical company developing novel therapeutics for rare fibrotic diseases, announced today that it has received financial support totaling $1.1 million from 12 not-for-profit foundations serving the muscular dystrophy patient community. Halo will use the funds to expedite the phase 2 study of HT-100, its lead drug candidate for Duchenne muscular dystrophy (DMD). HT-100, a proprietary formulation of...


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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