SLC6A1 Connect is proud to announce a partnership with Dr. Steven Gray from UT Southwestern to develop a gene replacement therapy to treat SLC6A1 mutation. Pre-clinical lab work is currently underway.
Article: Patients with rare brain diseases help scientists open new doors for gene therapy
Why Gene Therapy?
Scientific Explanation: SLC6A1 is a heterozygous haplo-insuficient, loss of function and less than 6kb in size, so the gene fits nicely into the AAV9.
Patient Explanation: Despite the eligibility hurdles in place for gene therapy, SLC6A1 meets the criteria for a good fit.
Download: Global Genes: A Guide to Gene Therapy
How Does Gene Therapy Work?
The explanation is very simple but the process is very complex. Simply stated, a good copy of the broken DNA (from anyone) is inserted into a vector (a harmless virus called AAV9) that carries the good DNA to the brain. The virus then stacks good copies of the DNA on top of the bad copies of the DNA and the pathway is opened.