Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Start Date
5/1/2010
Completion Date
12/1/2026
Summary
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
Detailed Description
This project is to understand modifier genes and how they influence the severity of disease expression, along with identifying new forms of CMT which have not been genetically determined. Subjects who are eligible will either have CMT type 1A (CMT1A) or an unknown form of CMT. Blood will be drawn and sent to the University of Miami where they receive the coded sample and process it through exome sequencing. Subjects will be told that this is optional.
Eligibility Criteria
Age Range: No minimum to No maximum
Conditions
Locations
Cedars-Sinai Medical Center
Los Angeles, California 90048
United States
Stanford University
Palo Alto, California 94304
United States
University of Colorado Hospital
Aurora, Colorado 80045
United States
Connecticut Children's Medical Center
Hartford, Connecticut 06106
United States
University of Miami
Miami, Florida 33136
United States
University of Iowa
Iowa City, Iowa 52242
United States
Johns Hopkins University
Baltimore, Maryland 21205
United States
Harvard/Massachusetts General Hospital
Boston, Massachusetts 02114
United States
University of Michigan
Ann Arbor, Michigan 48109
United States
University of Minnesota
Maple Grove, Minnesota 55369
United States
University of Rochester
Rochester, New York 14642
United States
University of North Carolina
Chapel Hill, North Carolina 27599
United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania 19104
United States
University of Pennsylvania
Philadelphia, Pennsylvania 19104
United States
St. Jude Children's Research Hospital
Memphis, Tennessee 38105
United States
Houston Methodist Hospital
Houston, Texas 77030
United States
Seattle Children's Hospital
Seattle, Washington 98105
United States
Children's Hospital of Westmead
Sydney, New South Wales 2145
Australia
The Hospital for Sick Children
Toronto, Ontario M5G 1X8
Canada
C. Besta Neurological Institute
Milan,
Italy
National Hospital of Neurology and Neurosurgery
London, England WC1N 3BG
United Kingdom
Dubowitz Neuromuscular Centre
London,
United Kingdom