Treatments for Peroxisome Biogenesis Disorders is only the beginning.

The work being done by PBD Project is going to help millions of people.

Our mission

Our mission is to research and fund innovative therapies,as well as treatment options, expert care, and information to families affected by this disease. We believe in the power of collaboration and communication and our goal is to establish a network of knowledge that will push research forward to find therapies for PBD patients.

PBD Project has had more than one birth.

PBD Project was first born on October 2017, even if we were unaware of it at the time. That is the day Diego was born. We counted 10 fingers, we checked his breath. Everything seemed to be in order.

PBD Project was then born in the summer of 2019, when we first heard “Peroxisome Biogenesis Disorder” for the first time. Little did we know we would end up being armchair experts on PBDs and PEX10.

PBD Project is also born today and tomorrow, and every time it reaches a new parent, new medical expert and a new research milestone.

By bringing together exceptional talent from around the world, we will find a more efficient approach that will eventually lead to scientific advancements and ultimately a cure.

We as parents, will do anything to provide Diego, and patients like him, with the opportunity to a life they deserve.

Scientific Collaborators

We have assembled a team of esteemed experts in science and medicine from all around the world to work together, reduce the barriers to research discoveries and accelerate progress for a possible treatment for patients with PBDs. If you are interested in joining our team, please email us at research@pbdproject.org

Scientific Collaborators

Please email research@pbdproject.org if you are interested to participate!

Omid Karkouti

Co-Founder of Rarebase, which is developing a drug discovery platform for CNS genetic diseases.

Dr. Einat Zalckvar

Characterization of PEX10 mutations on a broad collection of peroxisomal proteins, using S. cerevisiae models.

Dr. Natalia Morsci

Sundry PEX10 program efforts, including R&D strategy, drug repurposing screens, and assay development.

Dr. Ethan Perlstein

Founder of Perlara, which is advising on PEX10 R&D strategy, drug repurposing screens, and assay development.

Dr. Peiqiang Feng

Analysis of the function and mutation of Pex10 in S. cerevisiae and in vitro biochemical reconstitution.

Dr. Sven Thoms

Expression analysis of PEX10 in fibroblasts and iPSCs, functional screening to determine protein-protein interactions of PEX10 in cell lines, super-resolution microscopy to better understand peroxisome substructure in PEX10 cell lines, and sundry other initiatives.

Dr. Ho Yi Mak

Characterization of PEX10 knock-in C. elegans models that mimic point mutations of PEX10 patients, using transgenic worms that report the morphology and function of peroxisomes and additional organelles with sundry approaches for model phenotyping.

Dr. Tom Rapoport

Analysis of the function and mutation of Pex10 in S. cerevisiae and in vitro biochemical reconstitution.

Dr. Johannes Berger

Characterization of potential therapies and their impact on peroxisome function.

Dr. Andy Golden

Creation of C. elegans models that mimic point mutations of PEX10 patients.

Dr. Jorge E. Azevedo

Impact of PEX10 mutations on PEX5 activity, including ubiquitination, by utilizing in vitro peroxisomal import/export system.

Dr. Andrew Simmonds

Characterization of PEX10 Drosophila models, including knock-in point mutations and knockout models.

Dr. Benjamin Readhead

Transcriptomic analysis of PEX10 data for drug discovery.

Dr. John Dueber

Characterization of PEX10 mutations on s. cerevisiae models and development of potential s. cerevisiae assays.

Dr. Francesca Di Cara

Characterization of potential therapies and their impact on peroxisome function of PEX10 cell lines.

Dr. Marc Fransen

Impact of PEX10 mutations on redox state and hydrogen peroxide levels, catalase function, cell sensitivity towards oxidative insults, and pexophagy.

Dr. Peter K. Kim

Characterize how PEX10 mutations influence PEX2 and PEX12 activity and stability using biochemical and cell imaging techniques.

Dr. Seong-Kyu Choe

Creation of PEX10 zebrafish knockout, model phenotyping, and assessment of compounds on model phenotype.

Onno Faber

Co-Founder of Rarebase, which is developing a drug discovery platform for CNS genetic diseases.

Dr. Aamir Zuberi

Development and characterization of PEX10 mouse models, including knock-in point mutations across different genetic backgrounds.

Dr. Gerald V. Raymond

PEX10 clinical phenotype, clinical considerations for potential therapies, and other PEX10 program efforts.

Dr. Hans Waterham

Functional studies and diagnostic evaluation of patient cells and DNA, including immunofluorescence, metabolic assays, metabolite analysis (VLCFAs), peroxisomal import/biogenesis, CRISPR-Cas9 studies, and clinical DNA testing.

Dr. Nancy Braverman

PEX10 clinical phenotype, clinical considerations for potential therapies, and other PEX10 program efforts.

Dr. Ida van der Klei

Characterization of PEX10 mutations using Hansenula polymorpha models.

Dr. Jamie Fraser

Natural history and clinical trials in leukodystrophies (including PBDs), translational research program in neurometabolic disorders, and genomics of leukodystrophies and genetic leukoencephalopathies.

Dr. Marcia Haigis

Molecular phenotyping of the PEX10-ZSD mutation through the use of large-scale metabolomics methodology, with the intent to better understand the impact of PEX10 mutations on the metabolome.

Dr. Richard A. Rachubinski

Characterization of potential therapies and their impact on peroxisome function of PEX10 cell lines.

Dr. Joseph G. Hacia

Sundry PEX10 program efforts, including the development and characterization of PEX10 mouse models, including knock-in point mutations and conditional knock-in models.

Dr. Suresh Subramani

Characterization of PEX10 and PEX2 mutations using Pichia Pastoris models.

Dr. Jean-Claude Farre

Characterization of PEX10 and PEX2 mutations using Pichia Pastoris models.

Dr. Ronald Wanders

Functional studies and diagnostic evaluation of patient cells and DNA, including immunofluorescence, metabolic assays, metabolite analysis (VLCFAs), peroxisomal import/biogenesis, CRISPR-Cas9 studies, and clinical DNA testing.

Dr. Femke Klouwer

Functional studies and diagnostic evaluation of patient cells and DNA, including immunofluorescence, metabolic assays, metabolite analysis (VLCFAs), peroxisomal import/biogenesis, CRISPR-Cas9 studies, and clinical DNA testing.

Dr. Kay Siu

Characterization of PEX10 mutations on s. cerevisiae models and development of potential s. cerevisiae assays.

Dr. Esther Nuebel

Peroxisomal and mitochondrial metabolism, including functional characterization of PEX10 patient cells using immunofluorescence and metabolic assays to characterize peroxisomal and mitochondrial import and biogenesis.

Dr. Daniela Ribeiro

Evaluation of the progression of viral infections and the antiviral immune response in PEX10 cell lines.

Dr. Triana Amen

Investigating the role of PEX10 in peroxisome biogenesis and neuronal development using CRISPR/Cas9 models in human cell lines.

Dr. Ruth Belostotsky

Drug development for rare disease, including high-throughput screening for drug repurposing using a split-GFP approach.

Dr. John Aitchison

Systems cell biology approaches to reveal kinase networks to understand peroxisome dynamics and correct Pex10 mutations.

Dr. Fred Mast

Systems cell biology approaches to reveal kinase networks to understand peroxisome dynamics and correct Pex10 mutations.

Choy Kim

Creation of PEX10 zebrafish knockout, model phenotyping, and assessment of compounds on model phenotype.

Dr. Ernst J. Wolvetang

Development of neuronal cell lines and brain organoids, as well as development of potential gene therapy and other therapeutic approaches.