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OHSU, Intel team up to develop technologies to make personalized genomic analysis faster

Oregon Health & Science University and Intel Corp. are teaming up to develop next-generation computing technologies that advance the field of personalized medicine by dramatically increasing the speed, precision and cost-effectiveness of analyzing a patient's individual genetic profile.

23 Apr 2013

ViroPharma announces results of VP20621 Phase 2 study for preventing recurrent CDI

ViroPharma Incorporated, an international biopharmaceutical company committed to developing and commercializing innovative products that address unmet medical needs and rare diseases, today announced the results of a Phase 2 study of VP20621 (non-toxigenic Clostridium difficile; NTCD) a novel treatment approach for preventing recurrent C. difficile infections.

23 Apr 2013

Xenon Pharmaceuticalsn receives BIOTECanada's Gold Leaf Company of the Year Award for 2013

Xenon Pharmaceuticals Inc. is pleased to announce that it has been awarded BIOTECanada's Gold Leaf Company of the Year Award for 2013.

22 Apr 2013

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.

18 Apr 2013

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.

18 Apr 2013

Exposure to traffic-related air pollution associated with increases in rare childhood cancers

Scientists from UCLA's Fielding School of Public Health led by Julia Heck, an assistant researcher in the school's epidemiology department and a member of UCLA's Jonsson Comprehensive Cancer Center, have found a possible link between exposure to traffic-related air pollution and several childhood cancers.

10 Apr 2013

FDA approves InVivo Therapeutics' IDE to test biopolymer scaffold product in humans

InVivo Therapeutics Holdings Corp., a developer of groundbreaking technologies for the treatment of spinal cord injuries and other neurotrauma conditions, today announced that the U.S. Food and Drug Administration has approved the Company's Investigational Device Exemption to begin human studies to test its biopolymer scaffold product, a technology developed to treat patients with acute, traumatic SCI.

5 Apr 2013

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.

21 Mar 2013

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.

21 Mar 2013

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.

From Quest Diagnostics 19 Mar 2013

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.

18 Mar 2013

Umbilical cord blood stem cell transplants may be an effective alternative to treat Hurler's syndrome

Transplants of blood-forming stem cells from umbilical cord blood may be an effective alternative to transplants of matched donor bone marrow stem cells to treat children with a rare, debilitating disease known as Hurler's syndrome (HS), according to results of a study published online today in Blood, the Journal of the American Society of Hematology (ASH).

17 Mar 2013

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.

7 Mar 2013

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.

7 Mar 2013

Screening healthy adults could potentially prevent rare genetic disorders

Millions of people unknowingly carry rare gene mutations that put them at high risk of developing preventable diseases such as colorectal cancer, breast cancer, and several catastrophic blood vessel disorders.

6 Mar 2013

Sanford-Burnham enters into partnership to test furin for treatment of dengue fever

Sanford-Burnham Medical Research Institute and 60- Pharmaceuticals, LLC, have entered into a partnership to test furin, a human proteinase, as a drug target for the treatment of dengue fever, one of the most common infectious diseases in the tropics and subtropics.

5 Mar 2013

Pivotal study of olesoxime in Spinal Muscular Atrophy receives positive interim review

Trophos SA, a clinical stage pharmaceutical company developing innovative therapeutics from discovery to clinical validation for under-served medical needs in neurology and cardiology, announced the completion of the interim analysis of the pivotal efficacy study of olesoxime in the rare neurodegenerative condition Spinal Muscular Atrophy (SMA).

1 Mar 2013

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.

28 Feb 2013

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.