NBIA Disorders Association has funded over $2.8 million in research since 2002. Grants are awarded to qualified researchers to initiate NBIA research. Many are 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. Our research grant program has helped to push research forward, increasing our scientific knowledge and leading us one step closer to our ultimate goal of finding cures for all NBIA disorders.

List of Grants Awarded:

• February 2024 – Mario Mauthe, Ph.D., University Medical Center Groningen, The Netherlands, “The mitochondrial-related defects in DR45-defective cells and how to reverse them,” in collaboration with University of Pennsylvania Orphan Disease Center, Philadelphia, PA. $60,000.

• February 2024 – Manju Kurian, Ph.D., University College London, London, England, “Advancing gene therapy for BPAN,” in collaboration with the University of Pennsylvania Orphan Disease Center, Philadelphia, PA. $60,000.

• September 2023 Arcangela Iuso, Ph.D., Helmholtz Zentrum München Institute of Neurogenomics, Munich, Germany, ”Understanding the functional link between mutations in WDR45 and reduced respiratory chain complex I (RCCI) activity, and exploring cAMP modulation as a therapeutic approach.” $60,000.

• February 2023 Bertrand Mollereau, Ph.D., Ecole Normale Supérieure de Lyon, Lyon, France, “Establishing autophagy inducers as novel therapies in cellular and animal models of Beta-propeller Protein-Associated Neurodegeneration (BPAN),” in collaboration with University of Pennsylvania Orphan Disease Center, Philadelphia, PA. $69,775.

• December 2022 Lena F. Burbulla, Ph.D., Ludwig Maximilian University of Munich, Germany, “Uncovering mitochondrial signature, dopamine metabolism and alpha-synuclein status in MPAN patient-derived dopaminergic neurons, ” in collaboration with sister NBIA organizations AISNAF (Italy) and Hoffnungsbaum e.V., (Germany), $70,000.

• December 2022 Rajnish Bharadwaj, Ph.D., University of Rochester Medical Center, Rochester, New York, “Elucidating the role of NBIA-mutated protein– c19orf12 in lipid homeostasis and mitochondrial dysfunction,” in collaboration with sister NBIA organizations AISNAF (Italy) and Hoffnungsbaum e.V., (Germany), $70,000.

• February 2022 Young-Ah Seo, Ph.D., University of Michigan, Ann Arbor, Michigan, “Reversing Brain Iron Overload in BPAN by a Natural Small Molecule,” in collaboration with University of Pennsylvania Orphan Disease Center, Philadelphia, PA. $66,366.

• August 2021 Choukri Ben Mamoun, Ph.D., Yale University, New Haven, Connecticut, “A High-Throughput Screen for PKAN Reversing Agents,” in collaboration with sister NBIA organizations AISNAF (Italy) and Hoffnungsbaum e.V., (Germany), $115,000.

• January 2021 Fulvio Reggiori, Ph.D., University Medical Center Groningen, Netherlands, "Deciphering the causes of mitochondrial network disruption in WDR45-defective cells and their contribution to the BPAN pathology," in collaboration with University of Pennsylvania Orphan Disease Center, Philadelphia, PA. $71,471.

• March 2020 Andreas Hermann, PhD., University Medical Center Rostock, Germany, "In vitro disease modeling of Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN): Patient specific induced pluripotent stem cells and their neuronal derivatives as human models of FAHN." $45,000.

• February 2020 Paul Lockhart, Ph.D., Murdock Children's Research Institute, Melbourne, Australia, "Development of novel human stem cell models of BPAN for Disease modeling and drug screening," in collaboration with University of Pennsylvania Orphan Disease Center, Philadelphia, PA. $60,561.

• October 2019 Lena F. Burbulla, Ph.D., Northwestern University, Chicago, IL, “Mechanistic insights into iron accumulation in WDR45 mutant neurons linked to β-propeller-associated neurodegeneration," in collaboration with sister NBIA organizations AISNAF (Italy) and Hoffnungsbaum e.V., (Germany), €65,000.

• May 2019 Dario Finazzi, M.D., University of Brescia, Brescia, Italy, “Understanding and curing PKAN: advancements from the phenotypic rescue of a zebrafish model,” in collaboration with sister NBIA organizations AISNAF (Italy) and Hoffnungsbaum e.V., (Germany), €22,000.

• February 2019 Lauriel Earley, Ph.D., University of North Carolina – Chapel Hill, “PANK2 gene therapy for treatment of PKAN and elucidation of disease biology,” in collaboration with sister NBIA organizations AISNAF (Italy) and Hoffnungsbaum e.V., (Germany), €39,500.* This grant was transferred and objectives completed by the Hayflick Lab at OHSU in October, 2022

• January 2019 Hong Zhang, Ph.D., Institute of Biophysics, Chinese Academy of Sciences, Beijing, P.R. China, “Mechanistic study of WDR4545B and their binding partner ATG2 in the autophagy pathway of neural cells.”, in collaboration with University of Pennsylvania Orphan Disease Center, Philadelphia, PA, $51,020.

• January 2019 Robert Ketteler, Ph.D., MRC Laboratory for Molecular Cell Biology, University College London, UK, “The use of a patient-centric neuronal cell model of Beta-Propeller Protein-Associated Neurodegeneration (BPAN) as a platform to develop novel therapies,” in collaboration with University of Pennsylvania Orphan Disease Center, Philadelphia, PA, $50,507.

• October 2018 Young-Ah Seo, Ph.D., University of Michigan School of Public Health, Department of Nutritional Sciences, Ann Arbor, Michigan. “Defining the roles of iron in BPAN.” Early-career research grant, 2 years, $150,000.

• September 2018 Mario Mauthe, Ph.D., University Medical Center, Groningen, the Netherlands. “Identifying and characterizing the multiple cellular roles of WDR45 in BPAN.” $45,000.

• January 2018 Hong Zhang, Ph.D., Institute of Biophysics, Chinese Academy of Sciences, Beijing, P.R. China, “Mechanistic study of WDR45 in the autophagy pathway and neurodegeneration,” in collaboration with University of Pennsylvania Orphan Disease Center, Philadelphia, PA, $50,507.

• January 2018 Penelope Hogarth M.D., Oregon Health & Science University, Portland OR., “A natural history study of beta-propeller protein-associated neurodegeneration (BPAN), “in collaboration with University of Pennsylvania Orphan Disease Center, Philadelphia, PA, $50,507.

• January 2018 Penelope Hogarth M.D., Oregon Health & Science University, Portland OR., “BPANready: a natural history study of beta-propeller protein associated neurodegeneration, an ultra-rare disorder,” $45,000.

• August 2017 Sunita Venkateswaran, MD, Children’s Hospital of Eastern Ontario, Ontario, Canada, “Towards a lipidomic and proteomic signature of Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN) associated with clinical severity,” $21,660.

• August 2017 Ody Sibon, Ph.D., University Medical Center, Groningen, The Netherlands, “Development and validation of a Drosophila model for FAHN,” $25,000.

• September 2015: Holger Prokisch, PhD., Technical University of Munich, Munich, Germany. “Characterization of the first knock-out mouse model for BPAN.” $67,760.

• June 2015: Suh Young Jeong, Ph.D., Oregon Health & Science University, Portland, Oregon, USA. " Mitochondrial dysfunction and hypoxia induce unused iron accumulation in PKAN" $45,000.

• June 2015: Ana Messias, PhD., Helmholtz Center Munich, Munich, Germany. “Functional and druggability analysis of C19orf12 using a structure-based approach.” $45,000.

• December 2014: Susan Hayflick, M.D., Oregon Health & Science University, Portland, Oregon, USA. " Examining the role of ischemia in the neurodegenerative disease PKAN. " $45,000.

• April 2014: Manju Kurian, M.D., University College London, London, England. "Novel Therapeutic Strategies in NBIA: A Gene Therapy Approach for PLA2G6-Associated Neurodegeneration (PLAN)." $150,000.

• April 2014: Manju Kurian, M.D., University College London, London, England. "Functional Characterization of Newly Identified NBIA Disorders Using Neuronal Cell Models." $44,680.

• April 2014: Ana Messias, Ph.D., Helmholtz Center, Munich, Germany. "Three-dimensional structure determination and preliminary function analysis of C19orf12, a protein involved in NBIA." $45,000.

• April 2012:  Tobias Haack, Ph.D., Helmholtz Center, Munich, Germany. “Next generation sequencing for disease gene identification and genetic testing in NBIA.” $40,000.

• April 2012:  Ulrich Salzer, Ph.D., Medical University of Vienna, Vienna, Austria. “Type and frequency of acanthocytosis in PKAN patients and family members from the region of Cabral and possible links to neurodegeneration.” $25,000.

• February 2012:  Roberta Leonardi, Ph.D., Dept of Infectious Diseases, St. Jude Children’s Hospital, Memphis, Tenn.  “An adeno-associated virus mediated mouse model for PKAN disease.” $30,000.

• December 2011:  Arcangela Iuso, Ph.D., Institute of Human Genetics, Helmholtz Center, Munich, Germany.  “Development of cellular and drosophila models to characterize a newly identified NBIA gene.” $30,800.

• December 2011:  Ody C.M. Sibon, Ph.D., University Medical Center, Groningen, Netherlands. “Investigating the potential of specific pantethine derivatives to treat PKAN.” $40,000.

• December 2011:  Paul Kotzbauer, M.D., Ph.D., Washington University, St. Louis MO.  “Therapeutic approaches to increase Acyl Coenzyme A production in Neurodegeneration with Brain Iron Accumulation.” $40,000.

• February 2010:  Lars Timmerman, M.D., Ph.D. & Amande Pauls, M.D., Ph.D., University of Cologne, Cologne Germany. “Stimulation of the Globus pallidus internus in patients with NBIA: prospective analysis of international therapeutic outcomes and development of a therapeutic algorithm.” $30,000.

• November 2009:  Michael Kruer, M.D., Oregon Health & Science University, Portland OR. “SNP microarray-based disease gene discovery in idiopathic NBIA.” $30,000.

• November 2008:  Ody C.M. Sibon, Ph.D., University Medical Center, Groningen, Netherlands. “Investigating the potential of pantethine to rescue pantothenate kinase deficiency.” $30,000.

• November 2008:  Susan Hayflick, M.D., Oregon Health & Science University, Portland OR. “Proteomic Analysis of Neuroaxonal Spheroids.” $30,000.

• December 2007:  Susan Hayflick, M.D., Oregon Health & Science University, Portland OR. “Towards clinical therapeutics in PKAN.” $30,000.

• December 2007:  Paul Kotzbauer, M.D., Ph.D., Washington University, St. Louis MO.   “Combined disruption of mouse PANK2 and PLA2G6 genes to generate an improved animal model of NBIA.” $30,000.

• December 2007:  Soma Das, Ph.D., University of Chicago, Chicago IL. “Deletion and duplication analysis of the PANK2 and PLA2G6 genes in patients with NBIA.” $30,000.

• December 2006:  Susan Hayflick, M.D., Oregon Health & Science University, Portland OR. “The molecular pathogenesis of NBIA.” $30,000.

• December 2005:  Susan Hayflick, M.D., Oregon Health & Science University, Portland OR. “Dynamics in brain iron distribution in PKAN.” $30,000.

• October 2004:  Susan Hayflick, M.D., Oregon Health & Science University, Portland OR. “New gene discovery in NBIA.” $30,000.

• September 2003:  Susan Hayflick, M.D., Oregon Health & Science University, Portland OR. “Toward rational therapies for PKAN.” $30,000.

• September 2003:  Natalie Canham, M.B., University of Birmingham, Birmingham U.K. “Identification of the gene responsible for autosomal recessive NBIA and Congenital Cerebellar Hypoplasia.”       $30,000.

• September 2002:  Penelope Hogarth, M.D., Oregon Health & Science University, Portland OR. “Clinical outcome measures in Hallevorden-Spatz Syndrome.”  $30,000.

• September 2002:  Susan Hayflick, M.D., Oregon Health & Science University, Portland OR. “The biochemical basis for Hallevorden-Spatz Syndrome.” $30,000.

• September 2002:  Han-Xiang Deng, M.D., Ph.D., Northwestern University Medical School, Chicago, IL. “Development of a mouse model of Hallevorden-Spatz Syndrome.”  $30,000.

NBIA research took a big leap forward with the European Union’s November 2011 award of a collaborative four-year grant worth $7.02 million in U.S. dollars, or 5.2 million Euros.

Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) is a research consortium consisting of 13 partners from eight countries. Researchers consider the collaborative effort to be historic for the NBIA community and are excited about the grant’s potential to lead to new insights and potential treatments for NBIA-affected individuals.

The goals of TIRCON are:

1. Set up an international NBIA patient registry
2. Establish a biobank
3. Develop biomarkers for the disease
4. Conduct a randomized clinical trial of the iron-chelating drug Deferiprone in PKAN
5. Develop pantethine derivatives for treating PKAN

Please see the brochures here for more information on TIRCON or visit the website. For a listing of TIRCON funded publications, please go to http://tircon.eu/public-outreach/publications.

FP7 (277984-2)

NBIA 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:

We 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 Anna.Baur@med.uni-muenchen.de

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.