Skip to main content
Premium Trial:

Request an Annual Quote

NIH Provides $29M in Fiscal 2014 to Investigate Rare Diseases

NEW YORK (GenomeWeb) – The National Institutes of Health today announced it awarded $29 million in fiscal 2014 to expand the Rare Diseases Clinical Research Network (RDCRN).

As a result of the funding, researchers at 22 consortia will collaborate with representatives of 98 patient advocacy groups to further clinical research and investigate new treatments for patients diagnosed with rare diseases, which affect about 25 million Americans.

RDCRN is led by the National Center for Advancing Translational Sciences, and as part of the 2014 funding, six new consortia were established, including one called Rare Lung Diseases Consortium: Molecular Pathway-Driven Diagnostics and Therapeutics for Rare Lung Diseases. Led by Bruce Trapnell at Cincinnati Children's Hospital Medical Center, this consortium will investigate diseases such as hereditary interstitial lung disease, lymphangioleiomyomatosis, pulmonary alveolar proteinosis, and Hermansky-Pudlak syndrome.

Also, a consortium called Developmental Synaptopathies Associated with TSC, PTEN, and SHANK3 Mutations is investigating neurological diseases, including autism spectrum disorders and intellectual disabilities. Mustafa Sahin at Children's Hospital Boston is the principal investigator on the award.

Brendan Lee of the Baylor College of Medicine is heading another new consortium, the Brittle Bone Disorders Consortium of the Rare Diseases Clinical Research Network, while Michael Benatar of the University of Miami Miller School of Medicine is the principal investigator for the consortium Clinical Research in Amyotrophic Lateral Sclerosis (ALS) and Related Disorders for Therapeutic Development.

The Consortium of Eosinophilic Gastrointestinal Disease Researchers, which is studying food allergy disorders, is led by Marc Rothenberg from Children's Hospital Medical Center, Cincinnati, and the Frontotemporal Lobar Degeneration Clinical Research Consortium is headed by Adam Boxer at the University of San Francisco to study neurological diseases such as corticobasal syndrome, frontotemporal dementia, primary progressive aphasia, and progressive supranuclear palsy syndrome.

Researchers at the six new RDCRN consortia and the 16 previously established consortia will conduct at least two multisite clinical studies, including one longitudinal natural history study for a group of at least three related rare diseases. Support for the consortia will be provided by the RDCRN Data Management and Coordinating Center, which will offer technologies and tools to collect and analyze standardized clinical research data. It also will support study design, NIH said.

While there are several thousand rare diseases, treatments are available for just a few hundred, it said, due to difficulty in their diagnoses, widely dispersed patients and scientific experts, a perception of high risk, and a lack of data from natural history studies.

"NCATS seeks to tackle these challenges in an integrated way by working to identify common elements among rare diseases," NCATS Director Christopher Austin said in a statement. "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."

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.