Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT
University of Iowa
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.
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
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: All patients must agree to take part in the study and sign a consent form. A teenager (age 13-17 years) considering enrolling must agree to take part in the study and sign an assent form (depending on local ethics committee requirements). Additional inclusion criteria are described below. Inclusion Criteria: CMT1A Gene Modifier Study Patients must have at least one of the following: 1. Patient has a documented PMP22 duplication. AND/OR 2. Patient has a first or second degree relative (parent, child, sibling, half- sibling, aunt, uncle, grandparent, grandchild, niece, o…
Locations (22)
- Cedars-Sinai Medical CenterLos Angeles, California
- Stanford UniversityPalo Alto, California
- University of Colorado HospitalAurora, Colorado
- Connecticut Children's Medical CenterHartford, Connecticut
- University of MiamiMiami, Florida
- University of IowaIowa City, Iowa