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General interest items edited by Janice Flahiff

[Repost] NIH funds research consortia to study more than 200 rare diseases

From the 8 October 2014 EurkAlert

$29 million awarded to expand NCATS’ collaborative Rare Diseases Clinical Research Network

Physician scientists at 22 consortia will collaborate with representatives of 98 patient advocacy groups to advance clinical research and investigate new treatments for patients with rare diseases. The collaborations are made possible through awards by the National Institutes of Health — totaling about $29 million in fiscal year 2014 funding — to expand the Rare Diseases Clinical Research Network (RDCRN), which is led by NIH’s National Center for Advancing Translational Sciences (NCATS).

There are several thousand rare diseases, of which only a few hundred have any treatments available. Combined, rare diseases affect an estimated 25 million Americans. Some obstacles to developing rare disease treatments include difficulties in diagnosis, widely dispersed patients and scientific experts, a perception of high risk, and a lack of data from natural history studies, which follow a group of people with a specific medical condition over time.

“NCATS seeks to tackle these challenges in an integrated way by working to identify common elements among rare diseases,” said NCATS Director Christopher P. Austin, M.D. “The RDCRN consortia provide a robust data source that enables scientists to better understand and share these commonalities, ultimately allowing us to accelerate the development of new approaches for diagnosing and treating rare diseases.”

Many patients with rare diseases often struggle to obtain an accurate diagnosis and find the right treatments. In numerous cases, RDCRN consortia have become centers of excellence for diagnosing and monitoring diseases that few clinicians see on a regular basis.

These latest awards establish six new RDCRN consortia:

Consortium Name Lead Institution/ Principal Investigator Disease Areas of Study
Brittle Bone Disorders Consortium of the Rare Diseases Clinical Research Network Baylor College of Medicine, Houston/ Brendan Lee, M.D., Ph.D. Bone diseases (e.g., osteogenesis imperfecta)
Clinical Research in Amyotrophic Lateral Sclerosis (ALS) and Related Disorders for Therapeutic Development University of Miami Miller School of Medicine/Michael Benatar, M.B.Ch.B., M.S., D.Phil. Neurological diseases (e.g., ALS, frontotemporal dementia, hereditary spastic paraplegia, primary lateral sclerosis, progressive muscular atrophy)
Consortium of Eosinophilic Gastrointestinal Disease Researchers Children’s Hospital Medical Center, Cincinnati/Marc E. Rothenberg, M.D., Ph.D. Food allergy disorders (e.g., eosinophilic esophagitis, eosinophilic gastritis, eosinophilic colitis)
Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations Children’s Hospital Corporation, Boston/ Mustafa Sahin, M.D., Ph.D. Neurological diseases (e.g., autism spectrum disorders, intellectual disabilities)
Frontotemporal Lobar Degeneration Clinical Research Consortium University of California, San Francisco/Adam L. Boxer, M.D., Ph.D. Neurological diseases (e.g., corticobasal syndrome, frontotemporal lobar degeneration, frontotemporal dementia, primary progressive aphasia, progressive supranuclear palsy syndrome)
Rare Lung Diseases Consortium: Molecular Pathway-Driven Diagnostics and Therapeutics for Rare Lung Diseases Cincinnati Children’s Hospital Medical Center/ Bruce Trapnell, M.D. Lung diseases (hereditary interstitial lung disease, lymphangioleiomyomatosis, pulmonary alveolar proteinosis, Hermansky-Pudlak syndrome)
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To learn more about the six new and 16 continuing consortia as well as the DMCC, visit http://www.ncats.nih.gov/rdcrn-awards2014.html.

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To find out about specific clinical trials, and how to apply…
Go to clinicaltrials.gov

October 13, 2014 Posted by | Uncategorized | , , , , | Leave a comment

Creating Awareness Of Rare Diseases & Rare Disease Advocacy Day (March 1, 2012)

From the 6 December 2011 article at Medical News Today

“Rare diseases”, by their very definition, occur in no more than 5 people out of every 10,000 inhabitants. Barely noticed by the general public, only around 1,000 of the currently 6,000 or so different rare diseases currently listed on the Internet platform Orphanet are treatable nowadays. “And only a very small number are curable,” says Till Voigtländer from the Clinical Institute of Neurology at the MedUni Vienna and an expert on rare diseases.

80 per cent of rare diseases have a genetic origin, with the remaining 20 per cent being caused by diseases of the immune system, infections or poisoning. Clinically, rare diseases are frequently characterised by a severe, chronic progression of the disease and/or a shortened life expectancy.

So it is all the more important to create awareness of this type of disease, for example at the Austrian Congress on Rare Diseases 2011 at the MedUni Vienna, which is being held on the 2nd and 3rd of December and arranged jointly by Till Voigtländer and Reginald Bittner from the Centre for Anatomy and Cell Biology…..

 

Helping Rare Disease Patients Find Their Voice

(with information on Rare Disease Advocacy Day, March 1, 2012

Patients often need advocates, and that can be especially true for people with a rare disease, who have unique problems and may have little or no support or available treatment.

To help them become advocates for themselves and others with their disease, the Food and Drug Administration (FDA) is sponsoring its first “FDA Rare Disease Patient Advocacy Day” on March 1, 2012.

This event at FDA headquarters in Silver Spring, Md., commemorates the fifth annual Rare Disease Day, a global campaign to raise awareness of the more than 250 million people worldwide who suffer from rare diseases. Some of these diseases have familiar names—such as cystic fibrosis and Lou Gehrig’s disease—but there are thousands of others whose name is only known to those affected by them.

The Patient Advocacy Day sessions—some of which will also be webcast—are partially designed to increase awareness within the rare disease community of FDA’s roles and responsibilities in the development of medical products for the diagnosis, prevention, and/or treatment of rare diseases or conditions. (Click here disclaimer iconfor the registration form.)

December 6, 2011 Posted by | Public Health | , , , , , | Leave a comment

   

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