Dr. Robert Haws spoke on April 22 at the 2015 World Orphan Drug Congress in Washington D.C. on research carried out at the Marshfield Clinic for individuals with the rare disease called Bardet-Biedl syndrome (BBS). The presentation highlighted the leadership of the Marshfield Clinic in rare disease research and accents the international recognition of efforts carried out at the Marshfield Clinic to improve care and advance understanding of BBS.
The Marshfield Clinic offers the only comprehensive clinic for BBS in North America for both children and adults. Individuals from across the United States as well as internationally have attended the BBS Clinics with some individuals returning annually for health care and follow up with Marshfield Clinic health care providers. Clinics are held between the spring and fall months each year and dozens of Marshfield Clinic staff and physicians work together to provide care in a highly coordinated and outstanding manner.
Research in BBS is an important part of the efforts at Marshfield Clinic. The newly launched website at www.bbs-registry.org offers information for individuals with BBS to enroll in a long-term outcome registry called the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS). The website also provides individuals and families with information on networking, recent publications and opportunities to promote research. CRIBBS is designed to provide important insight on health issues in BBS ranging from developmental milestones to kidney transplant outcomes.
Contributions to rare disease research are anticipated to continue at the Marshfield Clinic Research Foundation. The Office of Rare Diseases at the NIH now uses software developed at the Marshfield Clinic Research Foundation for the Global Rare Disease Patient Registry Data Repository (GRDR®) project and members of the MCRF offer ongoing critical support. The MCRF is currently developing state of the art tools for rare disease registry research that will be available to rare disease support groups, academic centers and industry.