NBIA DISORDERS ASSOCIATION

Goal 1: Formalize and expand partnerships and collaborations with other organizations that interact with the NBIA Disorders community. Establish adequate staffing and communication channels to ensure formal, long-term partnerships that are in the best interest of the children and families served.
Goal 2: To provide comprehensive support services to affected families and individuals and to lead advocacy efforts as the recognized authority for this family of genetic disorders.
Goal 3: Increase and expand our Research Grants Program to fund promising research that may lead to major grant support and programs that will hopefully lead to clinical trials and ultimately to treatments and cures.

● Maintain and strengthen linkages between NBIA Disorders Association, members of the NBIA Alliance, the National Organization for Rare Disorders (NORD), National Institutes of Health (NIH), Genetic Alliance, Global Genes Project, EURORDIS, area hospitals and clinics, rare disease organizations, bio-technology companies, pharmaceutical companies, community foundations, private foundations, and family members of individuals with NBIA disorders.
● Expand beyond these partners to other agencies, universities, and medical organizations.
● The president will be expected to oversee the entire operation, including deployment of resources, maintaining the service and educational missions, seeking future sources of revenue, and contracting with institutions and third-party researchers who are part of our Research Grants Program.
● Adopt technology advancements that aim to increase time effectiveness, cost effectiveness, convenience to donors, reporting and analytics, customer relationship management, and optimizing organization operations.
● Recognize website as a capacity building tool that will help NBIA Disorders Association more effectively fulfill its mission. A modern content management system that will allow NBIA to keep the website updated much more easily freeing us to reach our ultimate goal to cure these disorders and one fully responsive to whatever type of technology one is using to access information.
Increase and expand our Research Grants Program to fund promising research that may lead to major grant support and programs that will hopefully lead to multiple clinical trials.

Our Board of Directors is primarily comprised of individuals with a family member diagnosed with an NBIA disorder, so the needs and understanding of the community are clear. In addition, a Scientific and Medical Advisory Board (SMAB) provide scientific and medical guidance regarding research goals and the state of the field. The SMAB assists in reviewing all research calls, and all responses. They also meet several times per year jointly with the board, and are frequent presenters at our biennial family conferences.

NBIA Disorders Association works collaboratively with its growing roster of member families, over 750 families at present, representing them at several large research meetings each year and providing opportunities for them to join NBIA Disorders Association in advocacy on behalf of their families and those affected by these disorders.

NBIA Disorders Association provides information about NBIA through its publications, website, and other educational offerings. Each year, NBIA Disorders Association responds to thousands of email inquiries from individuals, families, teachers, therapists, social workers, medical professionals and researchers.

Recognizing that rare diseases are a global public health challenge, NBIA Disorders Association helped found the NBIA Alliance and has been the fiscal sponsor since 2017. The NBIA Alliance, established in January 2012, is an international umbrella organization for NBIA patient organizations. Currently there are ten countries represented by the Alliance. The are: Canada, France, Germany, Hungary, Italy, Netherlands, Poland, Switzerland and the United States. Our alliance will steadily grow to more partners. The collaboration with the international alliance strengthens our organization and allows us greater collaboration for research, education and information dissemination in the United States and worldwide.

We also collaborate with or are members of: National Organization for Rare Disorders (NORD), Rare Disease Day Partner, Global Genes Foundation Alliance Member, Genetic Alliance member, and RareConnect, a partnership with EURORDIS.

Our organization has funded over 2.3 million in research for NBIA disorders. 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 are also funding gene therapy, stem cell therapy, repurposing drug therapy, and other cutting edge technology in our quest to help bring us to clinical trials that result in new and effective treatments.

We have held 11 family conferences with families coming from around the world to participate. In addition to the important social interactions possible at these conferences, we also inform families of the latest research initiatives and progress with researchers attending and sharing their work. In addition, we have a program to bring clinicians to these conferences to help them learn more about these disorders so that they can better serve their current NBIA patients and also be able to adequately serve additional NBIA families.

Started in 1996, we were the first NBIA organization formed and continue to be the leading organization for NBIA disorders. We mentor new organizations and collaborate whenever possible as we strive to achieve our ultimate mission of finding cures for all NBIA disorders.