Catherine Argyriou is an Assistant Professor of Ophthalmology at The Children’s Hospital of Los Angeles and the Keck School of Medicine of the University of Southern California. She completed her undergraduate studies at the University of Manitoba, her MSc at the McGill University Biology Department, and her PhD at the McGill University Human Genetics Department, where she also continued her Postdoctoral studies.
Dr. Argyriou joined the peroxisome disease field during her doctoral studies, contributing to the study of candidate drug therapies using patient cell lines, establishing the PEX1-G844D mouse model colony at McGill, and phenotyping its retinal and other pathologies. She spearheaded and leads the development of retinal gene therapy for PEX1-associated Zellweger Spectrum Disorder, which she is committed to bring to clinical trial.
Dr. Argyriou’s research focus is to study the mechanism of how peroxisome deficiency leads to disease, and to develop targeted gene-based therapies for a personalized approach to treat rare diseases.
Mei Baker, MD, FACMG is a 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.
Dr. Baker practiced medicine before being trained in both biochemical and molecular genetics, obtaining a clinical biochemical genetics certification from the American Board of Medical Genetics and Genomics in 2009.
She has more than 10 years of experience in routine newborn screening (NBS) with specific interest in, and a successful track record of, applying emerging technologies to implement new screening tests for disorders and to improve ongoing screening tests. She is one of the leading scientists who made Wisconsin the first state in the nation to implement universal NBS for severe combined immunodeficiency (SCID) in 2008.
Dr. Baker is a principal investigator for an ongoing NIH/NICHD funded project for “Establishing a Newborn Screening Process for Early Identification and Treatment of Infants with Pompe Disease”. She is currently responsible for cystic fibrosis NBS using next generation sequencing technology. Dr. Baker is currently a member of the Advisory Committee on Heritable Disorders in Newborns and Children, chaired for the NewSTEPs Steering Committee.
Mousumi Bose is the mother of Ilan Betzer (2010-2011), who was born with a severe form of PBD-ZSD. Through her experience with her son, Dr. Bose joined the GFPD as the Medical and Scientific Research Liaison in 2012. Her work with the GFPD has resulted in the first GFPD research grant cycle as well as the first treatment guidelines for PBD-ZSD, which has shown to be an invaluable resource for families affected by PBD-ZSD.
Recently, Dr. Bose accepted a position at Montclair State University in New Jersey as an Assistant Professor in the Department of Nutrition and Food Studies. Her long-term goal is to conduct patient/family-centered research in rare metabolic diseases such as PBD-ZSD.
Dr. Bose is passionate about continuing to learn about PBD-ZSD and other rare diseases and helping other rare disease families by using her knowledge and experience.
Dr. Nancy Braverman is a Professor of the Department of Pediatrics and Human Genetics at McGill University, attending medical geneticist at the McGill University Health Center (MUHC), and Senior Scientist at the Research Institute of the MUHC. As a clinician-scientist, she has dedicated her career to the study of Peroxisome Biogenesis Disorders (PBD), initially identifying the disease genes, characterizing the mutation spectrum, generating novel mouse models to study disease pathophysiology and to trial candidate drug and gene therapies. She has trained numerous graduate students and has been recognized by multiple research and teaching awards. She runs a large international longitudinal registry and biobank for patients with PBD and related disorders, in which over 200 participants are now enrolled. This study seeks to better characterize the heterogenous clinical outcomes in PBD, improve patient management with this knowledge and generate new ideas for basic and clinical research. In addition, Dr. Braverman is currently Chair of the ClinGen expert panel on gene and variant curation in peroxisome disorders.
Joseph G. Hacia is a Professor of Biochemistry and Molecular Medicine at the Keck School of Medicine of the University of Southern California. He earned his Ph.D. in biology from the California Institute of Technology in Pasadena, CA and completed his postdoctoral work at the National Institutes of Health in Bethesda, MD.
Dr. Hacia has a long-term commitment to identifying therapeutic interventions for peroxisomal disorders and is involved in collaborative small molecule drug discovery and gene therapy efforts and mouse model development at The Jackson Laboratory (Bar Harbor, Maine) where he is an adjunct faculty member.
Dr. Hacia is also actively participating in the United Leukodystrophy Foundation, RhizoKids International, Global DARE Foundation, Hannah’s Hope Fund, American Society of Gene and Cell Therapy, and American Society of Human Genetics.
Femke Klouwer is a neurologist and pediatric neurologist at the Leiden University Medical Center in Leiden (The Netherlands). She completed her Neurology residency at Amsterdam UMC and worked as a Pediatric Neurology fellow in Amsterdam UMC. She obtained her PhD in Zellweger Spectrum Disorders (thesis: Zellweger spectrum disorders: From bench to bedside) from the University of Amsterdam and worked both in the department of Pediatric Neurology and the laboratory Genetic Metabolic Diseases within the Amsterdam UMC. She currently works as a pediatric neurologist and fellow Pediatric Neuromuscular Disorders at LUMC and is still actively involved in peroxisomal research within the Amsterdam UMC. Her research interest focuses on therapy development in Zellweger Spectrum Disorders and she has a specific interest and expertise in alpha-methylacyl-CoA racemase (AMACR) deficiency.
Alex V. Levin, M.D., MHSc, FAAP, FAAO, FRCSC is the Chief of Pediatric Ophthalmology and Ocular Genetics at the Flaum Eye Institute and Golisano Children’s Hospital as well as the Chief of Clinical Genetics at the University of Rochester Medical Center in New York. He has been working as an ocular geneticist for over 30 years and has been a member of the International Society of Genetic Eye Disease and Retinoblastoma (ISGEDR) since the early 1990’s.
Dr. Levin serves on the Executive Committee of ISGEDR, and has held or holds leadership positions for many family groups devoted to rare genetic disorders, including the Pediatric Glaucoma and Cataract Family Association, Alstrom International, Sturge-Weber Foundation, and the Cornelia de Lange Foundation. He is a member of the AAPOS Genetics Task Force. As a member of their Medical Advisory Committee, he is spearheading the efforts of Orbis to improve ocular genetics education and services internationally. His center is an approved Luxturna site and is also involved in several gene therapy projects, gene agnostic clinical trials, and working closely with the Institute for Vision Research at Iowa to develop low-cost open-access non-patented gene therapy for retinal dystrophies.
As the Vice President of the Rare Disease Translational Center (RDTC) at The Jackson Laboratory (JAX), Dr. Lutz works with patient-based foundations, researchers, and industry partners to roadmap therapeutic strategies for rare diseases. Her work involves the use of preclinical mouse models and cell lines to develop and explore clinically relevant, translatable therapeutics with an emphasis on genetic based therapies, such as gene editing and antisense oligonucleotides. With more than 50 programs directed towards rare disease affecting small patient populations, the RDTC is dedicated to IND enabling studies for clinical readiness. As the Principal Investigator for the NIH sponsored Somatic Cell Genome Editing Consortium and the Center for Precision Genetics grants, Dr. Lutz is focused on the development of therapeutic pipelines for rare diseases, in addition to promoting regulatory and legislative efforts that better serve the rare disease community.
Ann Moser graduated from Radcliffe College/Harvard College with a degree in biochemistry in 1961.
She married Hugo W. Moser in 1963 and shared and contributed to his research interests on the leukodystrophies and peroxisomal disorders.
Ann continues her work in the Peroxisomal Diseases Lab where the current research focus, together with Paul Watkins, MD, PhD and Joseph Hacia, PhD, is high throughput drug screening for X-linked adrenoleukodystrophy and the Zellweger spectrum disorders.
Dr. Raymond is a neurologist and clinical geneticist at Johns Hopkins in Baltimore where he is also a professor of pediatrics and neurology.
He earned his BS in Biology from Fairfield University and completed training in Clinical Genetics at Harvard.
His expertise lies in neurology, genetics, and in developmental and neurogenetic disorders, and he has conducted FDA-funded research to investigate treatments for peroxisome assembly disorders.
Dr. Raymond is an active member of the advisory boards for the Global Foundation for Peroxisomal Disorders and the United Leukodystrohy Foundation.
Bill Rizzo is a professor of pediatrics at the University of Nebraska Medical Center in Omaha, NE.
He earned his M.D. from the University of Illinois College of Medicine, completed a pediatrics residency at Johns Hopkins Hospital in Baltimore, MD and was a Medical Genetics Fellow at NICHD, National Institutes of Health in Bethesda, MD.
Dr. Rizzo began his career investigating X-linked adrenoleukodystrophy, applying basic discoveries in the laboratory to therapeutic clinical studies of “Lorenzo’s Oil.”
His work on PBDs dates back more than 25 years.
Eric Rush is the Medical Director, Office of Faculty Development, and a Clinical Geneticist at the Children’s Mercy Hospital and an Associate Professor of Pediatrics at the University of Missouri – Kansas City.
He is board-certified in Internal Medicine, Pediatrics, and Clinical Genetics.
His research interests include extraskeletal manifestations of osteogenesis imperfecta and bone pathology in inborn errors of metabolism.
José-Alain Sahel, MD is the Distinguished Professor and Chairman of the Department of Ophthalmology, the Eye and Ear Foundation Endowed Chair at the University of Pittsburgh School of Medicine. He is the Director of the UPMC Vision Institute, which he founded in May 2023. Dr. Sahel also founded the Vision Institute in Paris, France (2008). He received his medical degree from Paris University Medical School and trained at Louis Pasteur University, Strasbourg, and Harvard University.
Dr. Sahel is a clinician-scientist conducting vision restoration research focused on cellular and molecular mechanisms underlying retinal degeneration and the development of treatments for currently untreatable retinal diseases. His work has contributed to the understanding and prevention of vision loss from photoreceptor cell degeneration. He has conducted and overseen more than 80 clinical trials on retinal conditions including first-in-human trials of artificial retina, gene therapy, and optogenetics.
Dr. Sahel was elected as a member of the Académie des Sciences, Institut de France, and a Fellow of the National Academy of Inventors in 2024. Dr. Sahel was appointed to the French Presidential Council for Science in 2023.
Michael Wangler is interested in improving understanding and treatments of rare inherited disease, and in the diagnosis and treatment of genetic disorders.
He is particularly motivated to study peroxisomal disorders because their pathogenesis is not understood, making them effectively untreatable.
He has undertaken an effort with Hugo Bellen, an expert in Drosophila neurobiology and genetics at the Texas Children’s Neurological Research Institute, to understand the biology of peroxisomal biogenesis in Drosophila melanogaster. With additional cases emerging from whole exome sequencing at Baylor, including phenotypes that have not been previously reported in association with peroxisomal gene mutations, they aim to combine fly and human studies to better understand these rare previously undiagnosed disorders.
Professor H.R. Waterham was appointed professor of Functional Genetics of Metabolic Diseases at the University of Amsterdam’s Faculty of Medicine (AMC-UvA) on March 1, 2016.
Since late 1997 Waterham has been associated with the AMC-UvA’s Laboratory Genetic Metabolic Diseases, where he has been research leader since early 1999.
He has also managed the laboratory’s accredited DNA diagnostics unit since 1999, and been principal investigator at AMC-UvA since 2006.