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Sigma-Tau Pharmaceuticals recognized as a rare disease pioneer

Sigma-Tau Pharmaceuticals recognized as a rare disease pioneer

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. [More]
Renaissance in drug development for rare diseases

Renaissance in drug development for rare diseases

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. [More]

Children born with CDG don't contain mutation in every cell type, say Sanford-Burnham researchers

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. [More]

CGCF backs Canadian scientist's research on Spinal Muscular Atrophy

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. [More]
IDIBELL signs patent licensing agreement with Minoryx

IDIBELL signs patent licensing agreement with Minoryx

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. [More]
Study says influenza immunization is safe in children with IBD

Study says influenza immunization is safe in children with IBD

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. [More]

FDA grants orphan-drug designation to XEN402 for treatment of pain associated with EM

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. [More]
Study highlights importance of zebrafish as a model organism for human disease research

Study highlights importance of zebrafish as a model organism for human disease research

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. [More]
Examining function of all genes in zebrafish genome could benefit human health, researchers say

Examining function of all genes in zebrafish genome could benefit human health, researchers say

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. [More]

DART Therapeutics develops new class of therapy for Duchenne muscular dystrophy

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. [More]
Novel modification of structural protein implicated

Novel modification of structural protein implicated

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. [More]
Genetic testing services for rare neurological disorders launched by Athena Diagnostics

Genetic testing services for rare neurological disorders launched by Athena Diagnostics

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. [More]
Oral Cancer Foundation encourages dental practices to offer free oral cancer screenings in April

Oral Cancer Foundation encourages dental practices to offer free oral cancer screenings in April

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. [More]

BIDMC investigator receives $50,000 CCF grant for research on pediatric cardiomyopathy

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. [More]
University of Sunderland pharmaceutical scientists receive CFUK grant for research into cystinosis

University of Sunderland pharmaceutical scientists receive CFUK grant for research into cystinosis

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. [More]

Friedreich's Ataxia costs between £11,000 and £19,000 per person per year

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. [More]
Genzyme marks 2013 International Rare Disease Day

Genzyme marks 2013 International Rare Disease Day

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. [More]
Viewpoints: GOP faces pressure from spending cuts effects on daily life; President needs to lead on Medicare cuts

Viewpoints: GOP faces pressure from spending cuts effects on daily life; President needs to lead on Medicare cuts

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. [More]
Bayer receives FDA approval for Stivarga to treat advanced gastrointestinal stromal tumors

Bayer receives FDA approval for Stivarga to treat advanced gastrointestinal stromal tumors

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. [More]
Orphan, CU to develop enzyme replacement therapy for CBS-deficient homocystinuria

Orphan, CU to develop enzyme replacement therapy for CBS-deficient homocystinuria

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. [More]