Peroxisome biogenesis disorders Zellweger Spectrum (PBD-ZSD) are rare, complex autosomal disorders affecting the function and formation of peroxisomes.
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.Core Team
Tania Rodríguez Sales
With a Bachelor of Arts in International Relations from Instituto Tecnológico y de Estudios Superiores de Monterrey in Mexico City and a specialization in Latin American Politics from Pontificia Universidad Católica de Chile in Santiago (2000). Tania brings over 23 years of dynamic experience in public relations and strategic communications. Passionate about writing and content generation, Tania excels in campaign creative development, audience engagement, strategic messaging, social media strategy, event planning, and budgeting. Their expertise makes her a versatile and driven professional in the field.Jorge Ramón Castillo Soriano
Designer and artist from Mexico City with 15 years of experience in advertising and brand development, JRCS brings creativity, visual complexity and digital skills to PBD Project, he has worked in worldwide agencies like Mc Cann Erickson and Teran/TBWA Mexico. Passionate about arts, illustration, graphic and web design.
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