Ataxia News and Research

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Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying disfunction of the parts of the nervous system that coordinate movement, such as the cerebellum.

Tufts University's School of Arts and Sciences receives $9.5M grant to create research space

Tufts University's School of Arts and Sciences has received a $9.5 million grant to create research space that will house a Collaborative Cluster in Genome Structure and Developmental Patterning in Health and Disease.

17 May 2010

Repligen files IND for Phase 1 study of RG2833 selective HDAC-3 inhibitor for Friedreich's ataxia

Repligen Corporation announced today that it has filed an Investigational New Drug Application (IND) with the Food and Drug Administration (FDA) for a Phase 1 study of RG2833, a selective histone deacetylase 3 (HDAC-3) inhibitor. This is a double-blind, single ascending dose, Phase 1 study in healthy volunteers to evaluate the pharmacokinetic and safety profile of RG2833 in up to 40 subjects.

13 May 2010

Gene patenting policies affect patient access to testing for disease-causing genes: Study

Policies allowing genes to be patented can make it more difficult for patients to access testing for important disease-causing gene mutations, according to a series of papers in a special online supplement published by Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

7 May 2010

Deficiency of frataxin protein causes Friedreich's ataxia

The defective gene responsible for Friedreich's ataxia was identified over 20 years ago, but so far our ideas of how this gene causes the disease have been merely speculative. It was assumed that, as a result of the mutation, the gene could no longer be transcribed because this stretch of DNA was inaccessible. FMI Group Leader Marc Bühler and his team have now carried out experiments demonstrating that this is not the case and revealing what actually happens in Friedreich's ataxia.

4 May 2010

Penwest Pharmaceuticals reports net income of $3.9 million for first-quarter 2010

Penwest Pharmaceuticals Co. today announced its financial results for the first quarter ended March 31, 2010. Compared with the first quarter of 2009, first quarter 2010 revenues increased sharply to $8.8 million, and operating expenses decreased by 20%. The Company had net income of $0.12 per share for the first quarter of 2010.

3 May 2010

Recent business progress at Penwest Pharmaceuticals

Penwest Pharmaceuticals Co. today sent a letter to its shareholders to provide an update on the Company's recent progress and on corporate governance developments.

24 Apr 2010

Repligen expects total revenue of $21.0M for fiscal year 2010

Repligen Corporation today announced preliminary financial results for fiscal year 2010 which ended March 31, 2010. Total revenue for the year is expected to be $21.0 million, including $10.3 million of bioprocessing product revenue and $10.7 million of royalty and other revenue. Research and development expenses are expected to be between $13.8-$14.2 million and selling, general and administrative expenses between $6.8-$7.2 million.

16 Apr 2010

Study on primary cilia formation may lead to new therapies for ciliopathies

A team of scientists at the University of California, San Diego School of Medicine have identified a network of genes that initiate and manage cilia formation. Although scientists have known about cilia for decades, only recently have they discovered their role in disease. This new discovery, which may lead to new therapies for ciliopathies, will appear in the April 15 edition of Nature.

16 Apr 2010

Defective protein responsible for SCA5 disease cuts synaptic terminals and snarls traffic inside neurons

The neurodegenerative disease spinocerebellar ataxia type 5 (SCA5) damages nerve cells in two ways. University of Minnesota researchers now report that the defective protein responsible for the disease cuts the number of synaptic terminals and snarls traffic inside neurons.

7 Apr 2010

Cardiologist receives grant to study impact of erectile dysfunction drugs on muscular dystrophy patients

A Cedars-Sinai Heart Institute cardiologist has been awarded a three-year, nearly $1 million grant from the Muscular Dystrophy Association (MDA) to study whether drugs used to treat erectile dysfunction could also be used to improve muscle blood flow and reduce fatigue in muscular dystrophy patients.

25 Mar 2010

Rexahn Pharmaceuticals forms Parkinson’s Disease SAB to develop strategy for Serdaxin

Rexahn Pharmaceuticals, Inc., a clinical stage pharmaceutical company commercializing potential best in class oncology and CNS therapeutics, today announced the formation of its Parkinson’s Disease Scientific Advisory Board (SAB), featuring some of the leading medical researchers in neurology.

22 Mar 2010

Breast cancer survivors at increased risk of developing second cancer: Study

Certain rare mutations in the ataxia telangiectasia mutated gene, combined with radiation exposure, may increase a woman's risk of developing a second cancer in the opposite breast, according to a study published online March 19 in the Journal of the National Cancer Institute.

20 Mar 2010

PhRMA President honors Ron and Raychel Bartek for driving awareness of Friedreich's ataxia

Pharmaceutical Research and Manufacturers of America President and CEO Billy Tauzin today honored Ron and Raychel Bartek for their dedicated work driving awareness of Friedreich's ataxia, a debilitating, life-threatening, rare disease.

19 Mar 2010

Global Genes Project: World Rare Disease Day 2010, a tremendous success

The Global Genes Project, a worldwide rare disease awareness initiative, today announced the success from its World Rare Disease Day 2010 efforts and laid out plans for future rare disease awareness campaigns.

8 Mar 2010

NAF to hold third annual Ataxia Investigators Meeting in Rosemont

The National Ataxia Foundation, in conjunction with the University of Chicago program in pathobiology and translational neuroscience, will hold its third annual Ataxia Investigators Meeting March 9-11, 2010, at the Hyatt Regency O'Hare, in Rosemont, Ill. A three-day meeting for patients, caregivers and families will follow at the same location.

6 Mar 2010

Study results of new PCR technology that reports mutations associated with FXS announced

Asuragen, Inc. announced today the results of a collaborative study with scientists at the M.I.N.D. Institute at the University of California Davis evaluating a new PCR technology that reproducibly reports mutations associated with Fragile X syndrome (FXS).

2 Mar 2010

ATM tumor-suppressor also recognizes damage caused by ROS and orders autophagy

ATM, a protein that reacts to DNA damage by ordering repairs or the suicide of the defective cell, plays a similar, previously unknown role in response to oxidative damage outside of the nucleus, researchers report this week in the online version of the Proceedings of the National Academy of Sciences.

19 Feb 2010

New foundational research may advance pharmacological therapies for neurological disorders

Investigators in the Hotchkiss Brain Institute, Faculty of Medicine, have made a major breakthrough in our understanding of nerve impulse generation within the brain.

17 Feb 2010

Findings could pave way for new therapeutic approaches for Friedreich's ataxia

Elevated levels of DNA damage have for the first time been found in the cellular mitochondria and nuclei of patients with the inherited, progressive nervous system disease called Friedreich's ataxia (FRDA), says a multicenter research team led by an expert from the University of Pittsburgh Cancer Institute (UPCI).

18 Jan 2010

Chinese researchers become the world's fifth most prolific contributors to regenerative medicine

Chinese researchers have become the world's fifth most prolific contributors to peer-reviewed scientific literature on clock-reversing regenerative medicine even as a skeptical international research community condemns the practice of Chinese clinics administering unproven stem cell therapies to domestic and foreign patients.

8 Jan 2010