The past year has been filled with advances in the field of gene therapy that have finally made this a reality for a multitude of previously untreatable conditions. Most recent among the list is a condition known as Angelman Syndrome. One in 12,000 babies are affected by this syndrome that affects the neurodevelopment of the child. It results in several physical impairments including seizures, problems with walking and balance, feeding issues and difficulty sleeping. These children also fall under the Autism Spectrum of disorders.
Years of research have identified the gene that is affected in this syndrome. It is a gene called UBE3A, which encodes a protein that is very important for brain activity. In Angelman Syndrome, this gene is either missing a copy from the mother (all genes should have two copies, known as alleles, one from mother and one from the father) or has a mutation/error.
In March of 2020, the first child received gene therapy for Angelman Syndrome. This particular form of therapy was called GTX-102, and was prepared by a company founded by parents of children who had this condition. The therapy was developed based on studies in mice that used small pieces of RNA to activate parts of DNA. The end result: the protein that is missing or defective in these children is replaced using such a therapy.
Gene therapies are moving forward at a rapid pace lately owing to the availability of newer tools needed to make gene repairs, removals and replacements. Once such tool is the much talked about CRISPR-Cas9 system. The specificity of these “genetic scissors” coupled with the ease, cost-effectiveness and versatility has made it a very popular method for gene therapy.
It does help to have a specific target gene in a condition. Some conditions are caused by multiple factors that include a spectrum of genetic and environmental influences. Recently, multiplexed CRISPR systems have been able to target multiple genes at the same time. This is particularly useful in treating conditions such as cancer, which is caused by hits to more than one gene.
These findings have large implications not just for treating Autism but for medicine in general. Clinical trials have been launched in the recent years for a variety of conditions that include vision loss, cancers, sickle cell anemia, beta thalassemia and spinal muscular atrophy.
Bibliography
Daley, Jim. “Gene Therapy Arrives.” Scientificamerican.com, Scientific American, 1 Jan. 2020, www.scientificamerican.com/article/gene-therapy-arrives/.
Denworth , Lydia, and Brendan Borrell. “A Quest for Quincy: Gene Therapies Come of Age for Some Forms of Autism: Spectrum: Autism Research News.” Spectrumnews.org, 20 Oct. 2020, www.spectrumnews.org/features/deep-dive/a-quest-for-quincy-gene-therapies-come-of-age-for-some-forms-of-autism/.
Denworth, Lydia, and Brendan Borrell. “Is Gene Therapy Ready to Treat Some Forms of Autism?” Sciencemag.org, 19 Oct. 2020, www.sciencemag.org/news/2020/10/gene-therapy-ready-treat-some-forms-autism.
