Research Overview

Dr. JeongNBIA Disorders Association has funded over $2.8 million in research since 2002.

One of our main objectives with research funding is to award grants 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 also collaborate with members of the NBIA Alliance (sister organizations in 9 countries) to pool our funds and enable larger grants to researchers. In this way we are able to move research forward at a faster pace.

Our NBIA families are a vital part of our research grant funding program, as they are raising the funds that make it possible.

A list of all grants awarded since 2002 can be found here.

In addition to our grant program, we have contracted with a specific researcher or entity to work on a defined research priority when needed. We sought a new PKAN mouse from a company in Australia. We supported the TIRCON International Patient Registry & Biobank along with our fellow NBIA Alliance members to ensure it continued after a founding grant ended. And we helped fund a FDA CFR Part-11 compliant database for the PKAN CoA-Z clinical trial.

A list of our contracts awarded can be found here.

In addition to our research funding program:

Dr. MautheWe organized the first two Scientific Workshops on NBIA in 2000 and 2005. In 2000, the workshop brought together researchers for the first time to discuss NBIA. We have also participated in the organizing of the 2010, 2012, 2017 and 2020 Scientific Symposiums that have been an opportunity for the NBIA scientific community to come together and share their work and create collaborations for future research.

A major collaboration that we participated in was as one of the 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; our organization and Hoffnungsbaum e.V., the NBIA lay advocacy group in Germany. The $7.2 million grant financed a clinical trial of deferiprone as an iron chelator; created a research registry; a biobank; and researched the role of pantethine in pantothenate kinase-associated neurodegeneration (PKAN).

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 the TIRCON International NBIA Research Registry set up through the TIRCON grant, as a way to help prepare for clinical trials in the future. Researchers can access this database for research projects. Clinical centers seeing 5+ NBIA individuals are eligible to participate in the registry. For more information about joining the registry, please contact Anna Baur-Ulatowska at

We 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 work with 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 ways to expand our research program to reach our ultimate goal of cures for all NBIA disorders.

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