The NBIA Disorders Association was founded in 1996 to support NBIA individuals and their families, educate the public about these rare disorders and raise money for research. We have accomplished these goals in the following ways:
We have held seven International Family Conferences that have brought NBIA families together from countries around the world. Many had never met another NBIA family before attending our conference. These conferences provide emotional support and also educate the families on the latest research and treatment options. In conjunction with the conferences, we have clinic appointments for the families to meet with the leading NBIA experts and get personal treatment advice for their loved ones.
We have a Networking Program for families so they can reach out for one-to-one contact with others in similar situations. We also maintain a private NBIA online group that enables families to post messages and ask questions of all subscribers. We have a social media presence on Facebook and Twitter for families to connect and receive news.
Since 1998, the organization has sent out a newsletter three times a year. The newsletters contain articles about NBIA research, treatment information, fundraising efforts, grants, family news and other topics. We are an important online source of information for the public via our website and other social media outlets.
NBIA board members give talks to doctors, researchers and the general public about living with NBIA. NBIA families regularly use print and online media to raise awareness of the disorders with their personal stories. We have also educated elected officials about the importance of research funding for rare disorders in visits to their offices.
We encourage NBIA families to hold fundraisers in their communities to support research initiatives and raise awareness about NBIA disorders. We organized an NBIA Run/Walk in 2011 and drew participants in five U.S. cities.
In 2012, the organization in collaboration with the Italian and Germany NBIA non-profits, funded Best Practices for PKAN to educate clinicians and others on the latest treatment information and knowledge about the most common form of NBIA.
The organization is a founding member of the NBIA Alliance, a group of NBIA lay advocacy groups around the world whose goal is to educate and raise awareness about NBIA disorders and to encourage new groups to form in other countries. We created a community at www.RareConnect.org to increase awareness and outreach.
NBIA Disorders Association has funded 21 research grants since 2002, totaling $655,800. Grants are awarded to qualified researchers to initiate pilot studies, the results of which are intended to be used to obtain larger multi-year grant funding. Many of these grants have led to the discovery of NBIA genes and the development of mouse and fruit fly disease models.
We have contracted with Dr. Susan Hayflick at the Oregon Health & Science University to perform work on two projects. One is to develop a gene therapy mouse model for PKAN at a cost of $22,800; the other is for phenotyping the PKAN mouse for $119,993. The organization has also contracted with a company in Australia to provide the mice necessary for the phenotyping, a 12-to-18-month process costing $50,575.
We helped organize the two Scientific Workshops on NBIA in 2000 and 2005. They brought together researchers for the first time to discuss NBIA. We also participated in the 2010 and 2012 NA/NBIA Symposiums which are helping to further research into both NBIA and Neuroacanthocytosis (NA).
We are among 13 partners in the European Union grant called Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON). Nine of the partners are research institutions; one a pharmaceutical company, another a small private non-profit research company and a NBIA German lay advocacy group. The grant is financing a clinical trial of deferiprone as an iron chelator, creating a research registry and studying the role of pantethine in NBIA.
We were one of the founding members of the Genetic Alliance BioBank in 2004 and participated in this registry until 2010. We are now helping to promote an International NBIA Research Registry set up through the TIRCON grant as the most efficient way to advance NBIA research.
We also support NBIA researchers in their work by publicizing their clinical trials and describing ways NBIA families can support that work. We highlight their research in our newsletters and invite the scientists to speak about their studies at our family conferences.
We are working with a growing group of biotech companies interested in NBIA research as a way to uncover new therapies. While we are proud of our accomplishments, we are continually working on our strategic plan and expect our achievements to grow significantly in the next 3 to 5 years. We hired a development director in 2013 to help us move our agenda forward and expand our research grants.