Affected individuals and families
We are always looking to recruit new participants to help advance our research. If you are interested in providing a skin sample or would like to know a bit more about what this might involve, we would be delighted to hear from you. We would also be more than happy to discuss this with your clinician or a health professional who would be responsible for obtaining a sample.
All samples will be fully anonymised so that we do not hold any personal information that could identify you or your family. The only information we would request would be the genetic diagnosis (affected tubulin gene, specific variant) and anonymised relevant clinical information (e.g., MRI scan results).
If you do not wish to donate cells but still would like to participate in our research, we would still like to hear from you. We are continually looking to gather information that might help us piece together the links between different tubulin gene mutations and different brain disorders.
If you have a patient carrying a tubulin gene mutation and wish to collaborate with us to drive cutting-edge tubulinopathy research, please do not hesitate to get in touch.
We intend to use these cells to investigate tubulin-related disease using stem-cell based techniques, however we also offer these resources to other researchers. If you wish to request a particular cell line, please contact us complete the request form. We will aim to get back to you as soon as possible.