We have created this website with the following aims:
1) Provide Information on the Tubulinopathies
We hope this website will provide an accessible and understandable reference point for affected families about this rare and poorly understood group of disorders. We hope to explain some of the terminologies you may hear for the first time, and what it might mean for a person in your care. We will highlight tubulinopathy research, summarise the key findings, for both families and clinicians.
2) Establish a Tubulin Biobank
Advanced research methods are needed to further our understanding of these rare but severe disorders. To facilitate our research, we are collecting cellular samples from affected individuals and family members to establish a Tubulin Biobank. This is a growing resource, and we always looking for new participants. We welcome requests from other researchers who wish to use these resources to facilitate their research. Our hope is to inspire potential therapeutic interventions to improve the lives of individuals with tubulin gene mutations.
3) Highlight Funding Opportunities and Raise Awareness
There are currently no charities dedicated to tubulinopathy research and funding for rare neurological and/or congenital disorders is extremely limited. We would like to highlight invaluable work by some of the charities that do fund important research into rare, congenital and/or brain disease. Click here to see some of our Partners.