CMT Biobank

The CMT Biobank is the first biorepository dedicated to Charcot-Marie-Tooth disease, and it runs on the generosity of donors. When you give a small biospecimen, HNF turns it into research-ready material that scientists use to model CMT, find biomarkers, and test candidate therapies. Every sample is paired with a de-identified GRIN registry record, so researchers see the biology alongside the lived experience of the person it came from, never a name. Donating is free, takes a few minutes at a collection event, and is one of the most direct ways to move the science forward.

What happens to your sample

Your donation does not sit on a shelf. It is processed into research-ready material and paired with your consented, de-identified registry record, so it arrives in a lab with the genetic and clinical context that makes it genuinely useful. Here is where it goes.

From your arm to the lab

1. 1 Find an event A collection event comes to your area, or you let us know you would like to take part when one does. Donating is free.
2. 2 Give a sample You provide a small blood sample, and sometimes a skin or urine sample. People with a confirmed CMT diagnosis and unaffected sibling and parent controls can all donate.
3. 3 We bank it Our partner COMBINEDBrain processes and stores your sample in a managed biorepository, linked to your de-identified GRIN registry record.
4. 4 Researchers use it Qualified academic and industry teams draw on banked material to build disease models, find biomarkers, and validate candidate therapies.

Why your donation matters

For a long time, CMT research was held back by a simple shortage: there was no biorepository of CMT samples for researchers to draw from. Targets and biomarkers cannot be validated without patient material, and disease models cannot be built without cells.

Every sample you give helps close that gap. The CMT Biobank already holds a growing collection of biospecimens ready for research, and each new donation widens the range of subtypes scientists can study and the speed at which treatments can be tested.

What the biobank holds

The collection spans blood, plasma, urine, and PBMCs, from donors across the CMT spectrum, plus matched control samples from unaffected relatives that researchers need for comparison. Here is the catalogued collection by gene, with the specimens still being genotyped shown separately:

Aggregate figures from the current biobank catalog, as of July 2026: 4,282 specimens from 272 donors, spanning 31 identified CMT genes and 90 variants, plus samples still awaiting genotyping. The collection continues to grow as collection events add specimens.

Built with COMBINEDBrain

HNF operates the CMT Biobank with COMBINEDBrain, a nonprofit biorepository consortium that supports more than 140 rare-disease communities. COMBINEDBrain provides the established infrastructure to process and store samples securely, so your donation reaches researchers without delay.

Frequently asked questions