NBIA Disorders Association has funded 28 research grants since 2002, totaling $1,098,205. 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.
In addition to the grants program:
We have contracted with Dr. Susan Hayflick at the OregonHealth & ScienceUniversity to perform work on a project to develop phenotyping the PKAN mouse for $119,993. The organization also contracted with a company in Australia in 2012 to provide the mice necessary for the phenotyping, a process that ended up taking 24 months and costing $52,415. These mice arrived at OHSU in September of 2014, and it will take approximately 18 months before we will know if the mice show signs of PKAN.
We helped organize the two Scientific Workshops on NBIA in 2000 and 2005. In 2000, they brought together researchers for the first time to discuss NBIA. We also participated in the 2010, 2012, and 2014 NA/NBA Symposiums which are helping to further research into both NBIA and Neuroacanthocytosis (NA).
We were among 13 partners in the European Union grant called Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) from 2011-2015. Nine of the partners were research institutions; one a pharmaceutical company; another a small biotech firm; and an NBIA German lay advocacy group. The grant financed a clinical trial of deferiprone as an iron chelator; created a research registry; and researched 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 if interested. 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 three to five years. We added a staff position of development director in 2013 to help us move our agenda forward and expand our research grants.