Specialists have voiced that there is currently no known medical treatments for TBCD, beyond therapeutic approaches to manage individual symptoms.
We have identified and are supporting medical research via two possible routes to a treatment plan, which are described in further detail below:
Precision Medicine Research (Repurposing)
Drug discovery - testing 4,000 FDA approved drugs against healthy neurons, then monitoring how each drug will increase or decrease gene expression across ALL genes, especially those genes involved in rare diseases.
Cell based disease models - the neurons are generated direct from a patients blood samples.
The combined data sets will be used to match potentially effective drugs to treat all patients affected by a TBCD gene mutation.
£220,000 will allow us to to enter the TBCD gene into this precision medicine genomics research; initial research into drug repurposing followed by manufacturing a treatment for the TBCD gene.
Gene Therapy Research
Gene therapy involves altering the genes inside your body's cells in an effort to treat or stop disease. Nationwide Children's Hospital in Ohio, USA, currently have research underway for development of an organic model for the TBCD gene. Nationwide's full genome insertion approach will knock out the affected patients whole TBCD gene. Replacing the entire gene corrects the genetic coding itself resulting in a treatment that is not mutation specific.
$2,000,000 means we can fund this necessary research to find a cure.
If you would like to support research into the TBCD gene, please click Here.
Links below for TBCD literature