Los desordenes biogenéticos de peroxisomas en el espectro de Zellweger (PBD-ZSD) son complejos raros, autosómicos y complejos. Estos desordenes afectan la función y formación de peroxisomas en las células.
Los tratamientos para los trastornos de la biogénesis de los peroxisomas son solo el comienzo.
El trabajo que está realizando PBD Project va a ayudar a millones de personas.
Misión
Nuestra misión es investigar y financiar terapias innovadoras, así como opciones de tratamiento, atención de expertos e información para las familias afectadas por esta enfermedad. Creemos en el poder de la colaboración y la comunicación, nuestro objetivo es establecer una red de conocimiento que impulse la investigación para encontrar terapias para los pacientes con PBD ZSD-PBD.
PBD Project ha tenido múltiples orígenes.
PBD Project nació por primera vez en octubre de 2017, aunque no lo sabíamos en ese momento. El día que nació Diego contamos 10 dedos en sus manos, 10 dedos en sus pies, comprobamos su respiración. Todo parecía estar en orden.
PBD Project surgió después en el verano de 2019 cuando por primera vez escuchamos las palabras “Sindrome de Zellweger”. Poco sabíamos que terminaríamos siendo expertos en PBD-ZSD y PEX10
PBD Project también nace hoy y mañana, y cada vez llega un nuevo paciente, un nuevo experto médico y un nuevo hito en la investigación.
Al reunir talentos excepcionales de todo el mundo, encontraremos un enfoque más eficiente que eventualmente conducirá a avances científicos y, en última instancia, a una cura.
Nosotros, como padres, haremos todo lo posible para brindarle a Diego, y a pacientes como él, la oportunidad de tener la vida que se merecen.
Junta de Cientificos Consejeros
Hemos reunido un equipo de expertos en ciencia y medicina de todo el mundo para trabajar juntos, reducir las barreras a los descubrimientos de investigación y acelerar el progreso de un posible tratamiento para pacientes con PBD. Si está interesado en unirse a nuestro equipo, envíenos un correo electrónico a research@pbdproject.org 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.
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