Latest Genetic disorders Stories

Risky prenatal use of steroid to try to prevent intersex, tomboys and lesbians A new paper just published in the Journal of Bioethical Inquiry uses extensive Freedom of Information Act findings to detail an extremely troubling off-label medical intervention employed in the U.S. on pregnant women to intentionally engineer the development of their fetuses for sex normalization purposes. The paper is authored by Alice Dreger, professor of clinical medical humanities and bioethics at...

Scientists at UC Santa Barbara have demonstrated in the laboratory that a new drug is effective in treating a very common kidney disease –– although it will be a few years before it becomes available for clinical testing. The findings resulted from a collaboration between UCSB and a biotech firm based in Indiana. Over 600,000 people in the U.S., and 12 million worldwide, are affected by the inherited kidney disease known as autosomal-dominant polycystic kidney disease (ADPKD or PKD)....

People suffering from the 'essential tremor' disorder can now be more easily diagnosed Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming increasingly frequent with increasing age, which is characterized by an involuntary shaking movement (tremor) that occurs with motion, particularly when doing precise fine...

TUCSON, Ariz., and PLEASANTON, Calif., Aug. 2, 2012 /PRNewswire-USNewswire/ -- Safeway Inc. kicked off its annual fundraising campaign for the Muscular Dystrophy Association August 1 to support health care services for those living with neuromuscular diseases and global MDA research initiatives. (Logo: http://photos.prnewswire.com/prnh/20120424/DC93207LOGO) (Logo: http://photos.prnewswire.com/prnh/20120730/DC49109LOGO) The nationwide campaign runs through September 3, giving...

LIVONIA, Mich., Aug. 2, 2012 /PRNewswire/ -- Alternating hemiplegia of childhood (AHC), a rare disorder that causes sporadic paralysis of the limbs and a range of other developmental challenges, has recently been given hope for a cure. Thanks to a grant in 2010 by the Pepsi Refresh Project and parental involvement throughout, a collaborative effort of prominent researchers at both Duke University and the University of Utah has resulted in identifying one of the key causes of the...

(Ivanhoe Newswire) - Duchenne muscular dystrophy affects 1 in every 3,600 male infants each year. Due to the way the disease is inherited, girls are not affected. Muscular dystrophy consists of a group of inherited disorders causing muscle weakness and loss of muscle tissue, which progressively becomes worse. Researchers seem to have discovered a promising new way to reverse the symptoms of the disease in mice. Scientists have reversed symptoms of myotonic muscular dystrophy in mice by...

KING OF PRUSSIA, Pa., Aug. 1, 2012 /PRNewswire/ -- CSL Behring announced today that it has awarded six patient advocacy organizations in the U.S. with Local Empowerment for Advocacy Development (LEAD) grants totaling nearly $70,000. LEAD grants are awarded semiannually and are intended to help local patient organizations achieve their advocacy objectives by further developing an existing initiative or developing a new one. (Logo:...

[ Watch the Video: "Celiac Disease Symptoms" ] Connie K. Ho for redOrbit.com – Your Universe Online Going gluten-free has become a popular dining option. However, a new analysis produced by the Mayo Clinic discovered that approximately 1.8 million American have celiac disease, but roughly 1.4 million are not aware that they have the disorder. The researchers also discovered that 1.6 million people in the U.S. practice a gluten-free diet, even though many of them have not been...

TUCSON, Ariz., July 31, 2012 /PRNewswire-USNewswire/ -- The Muscular Dystrophy Association and Menchie's Global Headquarters are teaming up throughout the entire month of August to help "spread smiles" for children and adults affected by neuromuscular disease. (Logo: http://photos.prnewswire.com/prnh/20120424/DC93207LOGO) (Logo: http://photos.prnewswire.com/prnh/20120731/DC49052LOGO) Beginning Aug. 1 through Sept. 3, Menchie's guests can show their support for MDA by purchasing...

Alternating hemiplegia of childhood (AHC) is a very rare disorder that causes paralysis that freezes one side of the body and then the other in devastating bouts that arise at unpredictable intervals. Seizures, learning disabilities and difficulty walking are common among patients with this diagnosis. Researchers at Duke University Medical Center have now discovered that mutations in one gene cause the disease in the majority of patients with a diagnosis of AHC, and because of the root...