New Clinic Software to Advance Rare Research
December 29, 2014
Marshfield Clinic has made researching and finding treatments for rare diseases a little easier.
A software program developed at the Marshfield Clinic Research Foundation will be available at no cost to health care institutions and patient advocacy groups to develop rare disease registries to be included in the Global Rare Diseases Patient Registry Data Repository, or GRDR.
Those who use the program will have access to de-identified health information about other patients around the world who have been diagnosed with the same rare disease. The database will include information about how diseases progress naturally over time, associated health conditions and response to treatment.
Dr. Robert Haws, director of the MCRF’s Clinical Research Center and an expert in the rare genetic disorder Bardet-Biedl syndrome, or BBS, said physicians around the world can access the database to determine the best treatments for their patients.
“People come into the BBS clinic and ask how long their child will live or their chances of going into kidney failure,” Haws said. “We don’t know — no one really does — but the registries track people over time, and in the future, we’ll be able to tell them there is a 20 percent chance your child will need a kidney transplant by a certain age, and this is the medication that has seemed to work well for other people.”
“The ultimate goal for the GRDR program is to improve therapeutic development and quality of life for millions of people suffering from a rare disease,” said Dr. Pamela McInnes, deputy director of the National Center for Advancing Translational Sciences.
Haws called the software a huge breakthrough in making it possible to understand and treat rare diseases.
“This is critical for the advancement of rare disease research,” said Dr. Robert Steiner, director of the MCRF. “We really don’t know everything about rare diseases because they haven’t been studied in a systematic manner. As a rare disease researcher, I can’t stress how important this is for the development of treatment of these conditions.”
In the past, doctors of patients with rare diseases would read case reports of two or three patients with the disease, which weren’t very helpful because they often focused on exceptional aspects of the disease rather than common presentations and the entire state of the disease, he said.
Existing commercial software had “major deficits,” which made the programs unsuitable to support a global rare diseases registry, so Haws worked with the MCRF Biomedical Informatics Research Center to develop a tool that represents and stores information in a way that is useful to researchers around the world. The project also created a valuable opportunity for local researchers to work with leaders at the National Institutes of Health.
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