Nancy Braverman received her undergraduate degree from Cornell University, Ithaca, NY, and MS in genetic counseling from Sarah Lawrence College in Bronxvillle NY. She received an MD from Tulane University in New Orleans, LA.
She completed a pediatric residency at Yale University, New Haven, CT and then a fellowship in genetics at Johns Hopkins University, Baltimore, MD., where she became involved in peroxisome disorders.
After 15 years at Johns Hopkins, she was recently recruited to McGill University in Montreal in order to focus more time on peroxisome research.
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.
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.
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.
Joseph Hacia is an Associate Professor of Biochemistry and Molecular Biology as well as Vice Chair for Medical Education at the University of Southern California’s Keck School of Medicine.
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 PBDs and maintains a laboratory that advances research in the field.
He is active on the scientific advisory boards of the United Leukodystrophy Foundation and the Global Foundation for Peroxisomal Disorders.
Femke Klouwer is a medical doctor and PhD candidate in the Department of Pediatric Neurology at the Academic Medical Center (AMC) in Amsterdam.
For the last three years she focused on translational studies in Zellweger spectrum disorders (ZSD), working both in the clinic and in the Laboratory Genetic Metabolic Diseases within the AMC.
As a physician, she sees around forty ZSD patients at the outpatient clinic on a regular basis.
Femke graduated with honors from the University of Amsterdam in 2014, she worked as a medical resident in the Department of Neurology for one year before she started working at the AMC.
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.
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.