The Foundation
The RFC1 Foundation is a non-profit 501(c)(3) charity which was founded by a group of individuals either directly or indirectly affected by RFC1-related disorders, CANVAS being the best known at present.
This is the only organization that attempts to serve the needs of patients and families affected by these disorders.
The RFC1 disorders
These disorders interfere with the RFC1 gene and lead to multitude of symptoms that can appear at any time along the course of aging.
One disease that has been discovered is CANVAS Syndrome, which was the first disease attributed to this defective gene. Since that time the understanding of CANVAS has led researchers to further classify this as a RFC1 disorder. The symptoms vary along a continuum, with most individuals having a course that is largely unique to themselves, which makes both diagnosis and treatment challenging.
The who and the why
Scientific Advisory Board:
Andrea Cortese, MD, PhD
Professorial Research Fellow - Neuropathies, Muscle and NMJ Disorders, Neurogenetics Department of Brain and Behavioral Sciences University of Pavia Pavia, Italy
Puneet Opal, M.D.
Lewis John Pollock Professor of Neurology Professor, Neurology (Movement Disorders) Feinberg School of Medicine - Cell and Developmental Biology Northwestern University Chicago, Illinois
David Pellerin, MD, PhD, MSc, FRCPc
McGill University Montreal, Quebec
Liana Rosenthal, MD, PhD,
Associate Professor of Neurology Daniel B. and Florence E. Green Professor in Ataxia Director, Johns Hopkins Ataxia Center Co-director, LBDA Center of Excellence Johns Hopkins School of Medicine Baltimore, Maryland
Peter Todd, MD, PhD
Chester and Anne Alecks Sackett Endowed Professor Professor of Neurology Associate Chair for Research, Department of Neurology Medical Director, Neurology Professor of Human Genetics, Medical School University of Michigan Ann Arbor, Michigan
Stephan Züchner, M.D., Ph.D.
The Dr. John T. Macdonald Foundation Department of Human Genetics University of Miami School of Medicine Miami, Florida