The
Charcot-Marie-Tooth (CMT)
Genome Study
Solving CMT one genome at a time.
This is a patient-driven research project. To understand the genetic basis of CMT/inherited neuropathy and to ultimately find a cure for this devastating disease, we will do genetic sequencing of 10,000 CMT patients. This might give answers to many families.
National Institute of Neurological Disorders and Stroke
Inherited Neuropathy Consortium
CMT Association
Why participate?
Current genetic testing does not provide an answer to many CMT patients.
This is because of limited scientific understanding of the CMT genome.
With large genetic studies we can speed gene discovery and provide answers. We hope this will accelerate therapies for CMT.
Your participation will help to make this happen.
About us
The genomics group at University of Miami is a world leader in genetic discoveries in CMT/ inherited neuropathies.
We partner with renowned CMT physicians and scientists to discover novel genes and develop therapies. Most clinical CMT genetic testing is based, in part, on our research.
Working together with CMT families, patient organizations, and, importantly, neuropathy research consortia increases the pace of medical progress
How do I join?
01
Am I eligible?
Answer a few questions to find out if you qualify for this project. Importantly, not every 'neuropathy' has a genetic cause.
02
Enroll me.
On this website we will explain the details of the study, risks, and benefits. You will then be asked to sign a consent form.
03
Participate.
A saliva kit will be sent to your home for personal DNA collection.You will also complete a questionnaire about your CMT symptoms.
Find out if you are eligible!
01 Have you been referred to this study by your doctor or research team?
02 If not referred, has your doctor told you that you have any of these:
-
Charcot-Marie-Tooth disease
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Hereditary Neuropathy
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Inherited peripheral neuropathy
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Motor or sensory neuropathy
03 Have you had genetic testing for your neuropathy?
If you answered YES to any of the questions click below to consider joining!
If you did not meet the criteria, the study is not right for you at this time. You may contact us below to be invited for future studies.
September 2023
SARS1 (SerRS) Causing De Novo Dominant Charcot–Marie–Tooth Disease with Slow Conduction
October 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
September 2023
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts