Sigma-Tau Pharmaceuticals, Inc. announced today that the Company was recognized last evening as a rare disease pioneer at the 30th anniversary celebration of The National Organization for Rare Disorders.
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Once famously described as "orphan diseases, too small to be noticed, too small to be funded" in the Hollywood drama Lorenzo's Oil, rare diseases are getting unprecedented attention today among drug manufacturers, who are ramping up research efforts and marketing new medicines that promise fuller lives for children and other patients with these heartbreaking conditions.
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Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars.
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The Canadian Gene Cure Foundation, in partnership with the Canadian Institutes of Health Research through its Institute of Genetics, is pleased to announce the awarding of a $90,000 Champions of Genetics: Building the Next Generation Grant to Dr. Faraz Farooq, a Scientist at the Children Hospital of Eastern Ontario Research Institute.
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The Bellvittge Biomedical Research Institute has signed a licensing agreement with the Spanish biotechnology company Minoryx of a patent for the treatment of X-linked adrenoleukodystrophy, a rare serious neurodegenerative disease which has no effective treatment.
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Influenza immunization rates in children with inflammatory bowel disease (IBD) are low despite its safety according to a new study by researchers at the Institute for Clinical Evaluative Sciences (ICES), Children's Hospital of Eastern Ontario (CHEO), the Ottawa Hospital Research Institute (OHRI), and the University of Ottawa.
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Teva Pharmaceutical Industries Ltd. and Xenon Pharmaceuticals Inc. announced today that the US Food and Drug Administration has granted orphan-drug designation to the investigational drug XEN402 being developed for the treatment of pain associated with erythromelalgia.
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Researchers demonstrate today that 70 per cent of protein-coding human genes are related to genes found in the zebrafish and that 84 per cent of genes known to be associated with human disease have a zebrafish counterpart.
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Equipped with the zebrafish genome, researchers have designed a method to assay the function of each and every gene and to explore the effects genetic variation has on zebrafish.
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DART Therapeutics Inc., an innovative, new-model biotechnology firm focused on developing therapies for Duchenne muscular dystrophy, announced today that it is developing a SARM drug candidate obtained from Belgium-based Galapagos NV.
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Studying a protein that gives structure to the nucleus of cells, Johns Hopkins researchers stumbled upon mutations associated with familial partial lipodystrophy, a rare disease that disrupts normal patterns of fat distribution throughout the body.
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Athena Diagnostics, a leader in neurological diagnostics, today announced the clinical availability of new genetic tests to aid the detection of several rare neurological disorders, including hereditary neuropathy, neuromuscular disease, epilepsy and certain movement disorders. The lab-developed tests are available through Athena Diagnostics, a business of Quest Diagnostics (NYSE:DGX), the world’s leading provider of diagnostic information services.
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What has the greatest impact on survival rates of oral cancer? Radiation? Chemotherapy? Perhaps surgery? The truth is none of these; rather, it is the point in time at which the disease is discovered.
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Maria Kontaridis, PhD, an investigator in the Division of Cardiology at Beth Israel Deaconess Medical Center (BIDMC), has received a $50,000 grant from the Children's Cardiomyopathy Foundation (CCF) for her research on pediatric cardiomyopathy.
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Pharmaceutical scientists at the University of Sunderland have been awarded £125,000 by the Cystinosis Foundation (CF) UK to fund the next stage of their research into a rare genetic disease.
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What is the cost of rare diseases such as Friedreich's Ataxia? By analyzing direct and indirect costs of care research in BioMed Central's open access journal Orphanet Journal of Rare Diseases calculated that conservatively this rare disease costs between £11,000 and £19,000 per person per year.
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Genzyme, a Sanofi company, today announced its support of International Rare Disease Day with a series of initiatives meant to call attention to rare diseases as an important public health issue and to improve rare disease education, research, and treatment.
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Cuts this draconian have no place in a tottering economy. But, realistically, the only way to break this standoff is for the cuts to exact their toll on daily life, causing Republicans to face pressure from the public to negotiate an alternative plan with higher revenues in March as part of talks to finance the government for the final six months of the fiscal year.
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The U.S. Food and Drug Administration today expanded the approved use of Stivarga (regorafenib) to treat patients with advanced gastrointestinal stromal tumors (GIST) that cannot be surgically removed and no longer respond to other FDA-approved treatments for this disease.
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The University of Colorado (CU) has signed exclusive, worldwide licensing and collaboration agreements with rare-disease research-and-development firm Orphan Technologies Ltd to develop an enzyme replacement therapy for Cystathionine Beta-Synthase (CBS) -deficient homocystinuria, a rare, inherited metabolic disease that is often fatal at a young age.
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