Latest Rare diseases Stories

WASHINGTON, Aug. 6, 2012 /PRNewswire-USNewswire/ -- In a new study on amyotrophic lateral sclerosis (ALS) published today in the Journal of Clinical Investigation, which was funded in part by The ALS Association, and conducted by researchers at Harvard Medical School, Tufts Medical School, Brigham and Women's Hospital and Massachusetts General Hospital, scientists have identified a biomarker in the blood that signals the earliest stages of the disease. While further studies to...

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...

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...

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...

MALVERN, Pa., July 30, 2012 /PRNewswire/ -- Auxilium Pharmaceuticals, Inc. (NASDAQ: AUXL), a specialty biopharmaceutical company, today announced positive top-line data from its open-label phase IIIb trial evaluating XIAFLEX® for the treatment of adult Dupuytren's contracture patients with multiple palpable cords. The Company enrolled 60 patients at eight sites throughout the U.S. and Australia. In the third quarter of 2012, Auxilium expects to begin a larger study with XIAFLEX for...

A bill to authorize the NIH to support the creation of up to 20 pediatric research consortia focused on diseases such as spinal muscular atrophy (SMA) was introduced in the U.S. House of Representatives. Alexandria, VA (PRWEB) July 20, 2012 A bill to authorize the National Institutes of Health (NIH) to support the creation of up to 20 pediatric research consortia focused on diseases such as spinal muscular atrophy (SMA) was introduced yesterday in the U.S. House of Representatives. The...

A buildup of sodium in the brain detected by magnetic resonance imaging (MRI) may be a biomarker for the degeneration of nerve cells that occurs in patients with multiple sclerosis (MS), according to a new study published online in the journal Radiology. The study found that patients with early-stage MS showed sodium accumulation in specific brain regions, while patients with more advanced disease showed sodium accumulation throughout the whole brain. Sodium buildup in motor areas of the...

(Ivanhoe Newswire) – A new study marks the beginning of important research that could potentially help develop and assess treatments for multiple sclerosis (MS). Researchers found that patients with early-stage MS revealed a sodium accumulation in certain regions of the brain, and patients with a more advanced stage of the disease showed sodium accumulation throughout the whole brain. There was a direct correlation between sodium buildup in motor areas of the brain and the degree of...

Disruption of cytoskeleton pathways contribute to ALS pathogenesis A new genetic mutation that causes familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder also known as Lou Gehrig's Disease, has been identified by a team of scientists led by researchers at the University of Massachusetts Medical School (UMMS). Mutations to the profilin (PFN1) gene, which is essential to the growth and development of nerve cell axons, is estimated to account for one to two percent of...

NIH-supported research provides more complete picture of the disease Researchers have linked newly discovered gene mutations to some cases of the progressive fatal neurological disease amyotrophic lateral sclerosis – ALS, also known as Lou Gehrig's disease. Shedding light on how ALS destroys the cells and leads to paralysis, the researchers found that mutations in this gene affect the structure and growth of nerve cells. ALS attacks motor neurons, the nerve cells responsible for...