COLLABORATORS

Collaboration with experts from all over the world is a key for our research to move forward. It is an exciting time for advances in this field as more and more scientists are joining our community devoted to research on peroxisomes and peroxisomal disorders.

Together we are stronger!

Mei Baker, MD

Professor in the Department of Pediatrics, and Co-Director in the Newborn Screening Laboratory at the University of Wisconsin School of Medicine and Public Health.

We are collaborating to identify genetic modifiers in individuals with PBD-ZSD.

Jean Bennett, MD, PhD

Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania.

We developed together a PEX1 retinal gene therapy that improved visual function in PEX1-G844D mice.

Geneviève Bernard, MD, MSc

Associate Professor, Department of Neurology and Neurosurgery, Faculty of Medicine, McGill University and pediatric neurologist at the McGill University Health Center.

We collaborate in characterizing the neurological and neuroradiological spectrum in patients with PBD-ZSD. Dr Bernard is also part of our peroxisomal disorder care team at our clinic.

Johannes Berger, PhD.

Professor and Head of Department of Pathobiology of the Nervous System (Center for Brain Research) at the Medical University of Vienna

We collaborate in performing neurotransmitters analysis in brain tissue from Pex7-deficient mice.

Michael Bober, MD, PhD

Division of Orthogenetics, Nemours/Alfred I Dupont Hospital for Children, Wilmington.

We collaborate in the RCDP registry regarding phenotype description and care for individuals with RCDP.

Mousumi Bose, PhD

Assistant Professor, Department of Nutrition and Food Studies at Montclair State University. GFPD Scientific Advisory Board Chair.

We collaborate on various projects including establishing the first treatment guidelines for PBD-ZSD.

Jean-Francois Bouchard, PhD

Professor and assistant research director at the school of optometry, Université de Montréal.

We collaborate in characterizing functional vision in the PEX1-G844D mouse model. Dr. Bouchard is a co-PI on our CIHR grant.

Pierre Chaurand

Professor and principal researcher, Department of Chemistry, Université de Montréal

We collaborate in developing assays to measure fatty acid levels and distribution in the mouse retina. Dr. Chaurand is a co-PI on our CIHR grant.

Maria Daniela D’Agostino, MD, MSc

Medical geneticist at the department of Medical Genetics at the McGill University Health Center.

We collaborate on review manuscripts, especially those including adult patients. Dr D’Agostino is also part of our peroxisomal disorder care team at our clinic who sees adult patients with ZSD.

Gwenaelle Geleoc, PhD

Research Associate in Neurobiology and Otolaryngology and Assistant Professor of Otolaryngology at Harvard Medical School.

We collaborate in investigating the hearing loss in mouse models and in patients with PBD-ZSD.

Joseph Hacia, PhD

Associate Professor of Biochemistry and Molecular Biology, Vice Chair for Medical Education at the University of Southern California's Keck School of Medicine.

We collaborate with Dr Hacia in various ways, including developing together a PEX1 retinal gene therapy that improved visual function in PEX1-G844D mice.

Femke Klouwer, MD

Medical doctor and PhD candidate in the Department of Paediatric Neurology at the Academic Medical Center (AMC) in Amsterdam.

We shared natural history study data to improve the characterization of PBD-ZSD. This work was initiated in our E-Rare grant.

Robert K. Koenekoop, MD, PhD

Professor in the department of pediatric surgery, Faculty of medicine, McGill University and Pediatric ophthalmologist at the McGill University Health Center.

We collaborate in collecting and reporting data on retinal disease in patients with PBD-ZSD. Dr. Koenekoop is a co-PI on our CIHR grant. He is also part of our peroxisomal disorder care team at our clinic.

Pierre Lachapelle, PhD

Professor of Ophthalmology, Faculty of Medicine at McGill University.

We collaborate on characterizing the progression of retinopathy in our PEX1-G843D mouse model. Dr Lachapelle is a co-PI on our CIHR grant.

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Ann Moser, BA

Research associate in neurology and emeritus co-director of the Peroxisomal Diseases Laboratory at Kennedy Krieger Institute and Johns Hopkins University.

We collaborate in various ways, including fatty acid measurements, newborn screening advocacy and mouse models.

Bwee Tien Poll-The, MD, PhD

Professor in Pediatric Neurology at the Academic Medical Center (AMC) of the University of Amsterdam (emeritus)

We collaborate in studies on patients with PBD-ZSD and RCDP, and were Co-PIs on our E-Rare grant.

Roberta La Piana, MD, PhD

Assistant Professor in the Department of Neurology and Neurosurgery at McGll University.

We collaborate in characterizing the neurological and neuroradiological spectrum in patients with PBD-ZSD.

Cat Lutz, PhD, MBA

Senior director, mouse repository and in vivo pharmacology genetic resource at the Jackson Laboratory, Bar Harbor.

We collaborate in developing mouse models for PBD-ZSD, along with the GFPD and Dr. Hacia.

Timothy Niiler, PhD

Adjunct Biomechanist, AI duPont; Associate Teaching Professor, PSU Brandywine, PA

We collaborate on generating growth curves for individuals with PBD-ZSD.

Gerald Raymond, MD

Neurologist and clinical geneticist and Professor of paediatrics and neurology at Johns Hopkins University School of Medicine, Baltimore.

We collaborate together on various clinical projects including establishing the first treatment guidelines for PBD-ZSD.

William Rizzo, MD

Professor of pediatrics and Chair, Division of inherited metabolic diseases at the University of Nebraska Medical Center in Omaha.

We work together with the GFPD regarding patient phenotypes and we ran a pilot trial together for betaine in PEX1-G843D individuals.

Eric Rush, MD

Medical Director, Office of Faculty Development, and Clinical Geneticist at the Children's Mercy Hospital and Associate Professor of Pediatrics at the University of Missouri - Kansas City

We collaborate in describing the bone disease in patients with PBD-ZSD.

Steven Steinberg, PhD

Medical director, Clinical Molecular Genetics, ARUP laboratories, Utah.

We collaborate on many projects including genotype-phenotype correlations in ZSD and engineering of the novel PEX1-G843D mouse model.

Dajana Vuckovic, PhD

Associate Professor and Concordia University Research Chair, Chemistry and Biochemistry. Director, Centre for Biological Applications of Mass Spectrometry.

We collaborate on our CIHR project grant to evaluate flavonoid levels in our treated mouse models.

Michael Wangler, MD, MSc

Assistant Professor, Department of Human and Molecular Genetics, Baylor College of Medicine and Texas Children's Genetics clinic. Investigator, Jan and Dan Duncan Neurological Research Institute.

We collaborate on metabolomics studies in patients with PBD-ZSD.

Hans R Waterham, PhD

Professor of Functional Genetics of Metabolic Diseases and principal investigator at the University of Amsterdam’s Faculty of Medicine (AMC-UvA).

We collaborate on genotype -phenotype correlations in ZSD and RCDP, and were Co-PIs on an E-Rare grant.

Nagwa Wilson, MD, PhD

Pediatric Radiologist, Medical Imaging Department, Children’s Hospital of Eastern Ontario and Assistant Professor of Radiology at the University of Ottawa