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Clinic software to support global rare disease registry

​​​​​​​​​​​​A computer software program developed at Marshfield Clinic Research Foundation (MCRF) soon will support the National Institutes of Health (NIH)/National Center for Advancing Translational Sciences (NCATS) Global Rare Diseases Patient Registry Data Repository (GRDR) program, designed to advance research for rare diseases.

Developed as a collaborative effort of MCRF’s Biomedical Informatics Research Center​ and its Clinical Research Center, the software is available free of charge to institutions and patient advocacy organizations developing rare disease registries to be included in the GRDR.

About 7,000 rare diseases affect more than 350 million people worldwide, but because patients are located across the globe, it’s extremely difficult for researchers to study these diseases. This software has the capability to bridge that gap.

​​“We’ve been working with other institutions to develop methods to bring registries together,” said Dr. Robert Haws, director, MCRF’s Clinical Research Center, and member of the GRDR Steering Committee. “For instance, Marshfield Clinic’s Bardet-Biedl Syndrome (BBS) registry is a book with chapters, but we need to bring all rare disease registries into a single library where all the books are written in the same style and language, to really harness the power.”

“The ultimate goal for the GRDR program is to improve therapeutic development and quality of life for the many millions of people suffering from a rare disease,” said Pamela McInnes, D.D.S., M.Sc. (Dent.), NCATS deputy director and acting director of the NCATS Office of Rare Diseases Research. “To achieve that goal, rare disease registries need to share characteristics, and be interoperable. ”

It’s not only patients of rare diseases who will benefit from the registry. Through application of scientific insights gained while studying rare diseases, program leaders aim to further research for common diseases as well.

Organizations that choose to use the registry software will be able to build and customize their registry and questionnaires using the dynamic form and other developed features in the framework.

“MCRF has a history of expertise in rare disease research, and we’re proud to continue that work with NIH,” said Dr. Robert Steiner​, MCRF director and a rare disease specialist. “As a clinician and researcher who has devoted my career to studying and treating rare diseases, I can’t stress enough how critical these registries are in our efforts to improve patients’ lives.”

Haws began this project about four years ago after investigating commercially available products. He couldn’t find a tool that allowed him to easily analyze data from BBS patients around the world. The BBS registry now has more than 100 patients enrolled and is an integral part of the Clinic’s BBS Center of Excellence.

The registry software is:

- Intuitive.

- Robust and has user-friendly analyzing capabilities.

- Able to communicate with other database programs easily.

“The impact of a library of rare disease registries that’s easily navigated is huge,” Haws said. “Because they’re rare, these diseases don’t always get the attention they need. If we can bring together data and patients, we can improve lives.”

This study was funded in part through philanthropic support of Marshfield Clinic Research Foundation’s Pediatric-Gastrointestinal and Diabetes Research Disease Specific Restricted Funds.​​

​​The Marshfield Clinic system provides patient care, research and education in more than 50 locations in northern, central and western Wisconsin, making it one of the largest comprehensive medical systems in the United States.

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