A Medical Device Daily

The National Institutes of Health has just launched a new web site offering technologies available for commercial licensing related to rare diseases or conditions. The web listing — at http://www.ott.nih.gov/rarediseases — consists of more than 500 technologies, including devices, drugs and biologics, available for transfer from the NIH and the FDA to the private sector for further R&D and potential commercialization, according to the institute.

The resource was developed by the Office of Rare Diseases (ORD) and the Office of Technology Transfer (OTT) at the NIH.

“[T]his new site will help facilitate the transfer of research advances from bench to bedside where the interventions can ultimately benefit patients,” said NIH Director Elias Zerhouni, M.D.

A rare disease is defined as one with prevalence less than 200,000 in the U.S., with an estimated 25 to 30 million people in the U.S. with one of over 6,500 known rare diseases.

Stephen Groft, director of ORD, said, “Because relatively few people are affected by any one rare disease, finding therapies for each poses unique challenges and requires innovative approaches.” He added, “We’re excited about this new mechanism to foster collaboration with the private sector and the potential to make a real difference for patients.”

The website module was developed by OTT and ORD in an attempt to provide a more collaborative, consolidated, and systematic approach to the development of products for rare diseases and conditions. “In addition to the technologies already available on the site, we encourage not-for profit organizations, academic research centers and foundations in the U.S. and abroad to submit technologies available for licensing from their institutions,” said Mark Rohrbaugh, Ph.D., J.D., Director of OTT. Parties interested in licensing will be directed to the institution owning the technology.

More information about submitting additional technologies can be found at the site.

Gene-based eye disease database unveiled

The National Library of Medicine (NLM), part of the NIH, also has introduced a new website, containing a database designed to archive and distribute data from genome wide association (GWA) studies.

GWA studies explore the association between specific genes (genotype information) and observable traits, such as blood pressure and weight, or the presence or absence of a disease or condition (phenotype information).

The database of Genotype and Phenotype (dbGaP) will for the first time provide a central location for interested parties to see all study documentation and to view summaries of the measured variables in an organized and searchable web format. The database will also provide pre-computed analyses of the level of statistical association between genes and selected phenotypes. Genotype data are obtained by using high-throughput genotyping arrays to test subjects’ DNA for single nucleotide polymorphisms (SNPs), areas of the genome that have been found to vary among humans.

Connecting phenotype and genotype data provides information about the genes that may be involved in a disease process or condition, which can be critical for better understanding the disease and for developing new diagnostic methods and treatments.

The database — located at http://www.ncbi.nlm.nih.gov/ entrez/query.fcgi?db=gap — was developed and will be managed by the National Center for Biotechnology Information . The initial release of dbGaP contains data on two studies: the Age-Related Eye Diseases Study (AREDS), a 600-subject, multi-center, case-controlled, study of the clinical course of age-related macular degeneration and age-related cataracts that was supported by the National Eye Institute (NEI); and the National Institute of Neurological Disorders and Stroke (NINDS) Parkinsonism Study, a case-controlled study that gathered DNA, cell line samples and detailed phenotypic data on 2,573 subjects. NEI and NINDS worked closely with NCBI in placing data from the two studies in dbGaP.

NLM Director Donald Lindberg, MD, said, “Researchers, students and the public will have access to a level of study detail that was not previously available and to genotype-phenotype associations that should provide a wealth of hypothesis-generating leads,” he said. “These data will be linked to related literature in PubMed and molecular data in other NCBI databases, thereby enhancing the research process.”