Due to the rarity of the TBCD disease, UK specialists have voiced that there is nothing that can be medically done to treat TBCD... so we have made it our mission to do everything we can to change that outcome!!
Precision Medicine Research
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.
We are aiming to raise £220,000 to enter the TBCD gene into this precision medicine genomics research. The first £50,000 will fund the initial stage 1 research into drug repurposing. The additional funds will be used in stage 2 to manufacture a treatment for the TBCD gene.
The function platform research will change the unknown path of MILLIONS of rare disease patients.
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.
Our goal is a cure, the closest technology to a cure is a gene therapy. But gene therapies cost millions of pounds to research and take to trial.
If you would like to support research into the TBCD gene, please click Here.
Links below for TBCD literature