NIH takes steps to expand access to rare disease database

The National Institutes of Health will let Elsevier access the National Center for Advancing Translational Sciences, a rare disease database.

The database contains information on rare or genetic conditions, as well as support services. The move by the NIH aims to give patients and providers faster access to the information.

Elsevier, an information and analytics business firm, will integrate the database into a new clinical decision support system to help clinicians make more accurate and informed diagnoses.

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The Genetic and Rare Diseases Information Center, known as GARD, developed the database. GARD was founded within the National Institutes of Health in 2002 to provide the public with access to current and easily understood information about rare or genetic diseases.

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Ann Pariser, MD

Elsevier now is building an online tool to help providers broaden their scope of diagnoses based not just on patients’ symptoms but taking into consideration their medical history to predict a list of diseases to which a patient may be subject. This means the GARD database will serve as a point of care product for physicians.

“Our aim is for the GARD database to be used by physicians as widely as possible,” says Ann Pariser, MD, and director of the NCATS Office of Rare Diseases Research.

“We are hopeful that the information contained in GARD can be used to develop diagnostic tools and that more commercial and non-commercial entities are able to find valuable uses for it that help clinicians and patients,” Pariser adds.

In a message to the industry, Christopher Austin, MD, director of NCATS, explained the promise of translational science. “Just as the understanding of cells and organs created a basis for the development of interventions for the diseases that affect them, so will the understanding of the translational process create a basis for more science-driven, predictive and effective intervention development for the prevention and treatment of all diseases.”

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