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.
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.
Study Type
OBSERVATIONAL
Enrollment
1,050
Cedars-Sinai Medical Center
Los Angeles, California, United States
Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers
While the same genetic change - an extra copy of PMP22 - causes CMT1A by definition, it is unclear why some people have more severe symptoms and some have less severe. We are looking for genetic modifiers - changes in the DNA that may be causing the differences in symptoms.
Time frame: once
New genetic causes of CMT
At least 33% of people with CMT have an unknown or genetically un-found form of the condition. We are looking for additional genes that cause CMT when mutated.
Time frame: Once
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Stanford University
Palo Alto, California, United States
RECRUITINGUniversity of Colorado Hospital
Aurora, Colorado, United States
RECRUITINGConnecticut Children's Medical Center
Hartford, Connecticut, United States
RECRUITINGUniversity of Miami
Miami, Florida, United States
RECRUITINGUniversity of Iowa
Iowa City, Iowa, United States
RECRUITINGJohns Hopkins University
Baltimore, Maryland, United States
RECRUITINGHarvard/Massachusetts General Hospital
Boston, Massachusetts, United States
RECRUITINGUniversity of Michigan
Ann Arbor, Michigan, United States
RECRUITINGUniversity of Minnesota
Maple Grove, Minnesota, United States
RECRUITING...and 12 more locations