The Bohring-Opitz Syndrome Foundation is joining others in the rare disease community around the world in celebrating Rare Disease Day, February 28, 2017. As a member of the National Organization of Rare Diseases (NORD), we hope to help raise awareness and educate others on rare diseases, including Bohring-Opitz Syndrome.
The campaign was started in 2008 by EURORDIS, a sister organization of NORD that continues to sponsor the event internationally. NORD became the Official US Sponsor for Rare Disease Day in 2009 and works with the international Council of National Alliances each year.
This year, the theme is research with the tagline, “with research, possibilities are limitless.” Over the last few decades, there has been an increase in funds dedicated to rare disease research in general. Although the state of rare disease research in the United States has improved, there is still a lot of work to be done.
Bohring-Opitz Syndrome (BOS) is one of the approximately 7,000 known rare diseases. Currently, the medical literature cites less than 60 known cases of BOS. However, since that article was printed, parent advocates have cited closer to 84 diagnosed cases of BOS.
One of the major focuses of the BOS Foundation this year is to support the development of a patient registry. Patient Registries are listed as one of the strategies to aid in driving research goals in rare disease populations.
A registry is a collection of data on patients with a specific condition. The purpose of a registry is to locate and list patients with the condition in order to facilitate patient/family networking and for clinical trial recruitment. They also serve as a research tool to improve clinical care and establish evidence-based medical practices. They also aid in evaluating patient-reported outcomes and collecting natural history of the disease with the possibility of drug development or other treatment approaches.
Medical Advisory Board members, Dr. Bianca Russell and Dr. Wen-Hann Tan are taking the lead to organize a registry for Bohring-Opitz Syndrome. We are excited to help see this project to fruition, as it will help push research to the next level.
Ultra-rare genetic syndromes, like BOS, are often left behind when it comes to research due to the small population. That is why it is so important to share our stories and bring a face to those who will benefit from research.
The Foundation is thankful for the support of our community through spreading awareness, educating the public and medical community about BOS, and your financial contributions.
If you have a story you’d like to share, please contact firstname.lastname@example.org. Sharing these stories on social media, blogs and other medias like The Mighty are great ways to get our message out.