Dear Ms. Solis,
We are writing in response to your article “SFARI workshop explores challenges and opportunities of gene therapies for autism spectrum disorder”. Your incredibly detailed article highlights the recent advances made in gene therapy approaches to treat autism spectrum disorder (ASD). With over 100 genes now shown to be associated, to varying degrees, with ASD, this article brings to light different gene therapy approaches that may have potential for treating ASD.
Among the various treatments highlighted, the most direct approach seems to be in cases where a functional copy of a dysfunctional gene is supplied, or the activity of the second copy of the functional gene is boosted. Although theoretically it seems straightforward, well designed studies using the right animal model to study the treatment are crucial. The article also mentions the importance of the natural history studies, which collect data on the natural course of a disease in the absence of an intervention. A critical point the article sheds light on is the conundrum of being able to arrive at the right dosage for any of the treatments mentioned. An elegant example presented was that of the addition of a protein called MECP2, which is commonly mutated in a disorder called Rett syndrome, a condition similar to ASD. When too much of MECP2 is present it leads to other severe side effects, highlighting the importance of carefully designed studies when considering gene therapy strategies.
A point that was repeatedly highlighted during the article was that early identification and diagnosis of autism is vital. To illustrate this, Dr. Chung of Columbia University performed a pilot study where she collected a spot of blood from newborns and screened them for a genetic disease affecting the central and peripheral nervous systems called Spinal Muscular Athrophy (SMA).These screens allowed newborns to be enrolled into a clinical intervention trial at a very early stage. Early detection leading to early treatment has shown to have the best chance of success. This point is even true for therapies based on applied behavior analysis (ABA), the current standard of care. Research on indicators of ASD called ‘biomarkers’ need to be well studied in order to be able to diagnose young children, even as soon as birth, so that they can access and fully benefit from evidence-based early interventions. The consensus among the scientists researching different gene therapy strategies seems to be that interventions done during early childhood (even as early as in the womb) may one day hold promise for ameliorating the core deficits associated with ASD.
However, there is still a lot we do not know about how research on genes and autism might translate into meaningful interventions. It is too early to conclusively say if any of these studies will one day translate into safe, effective, and ethical therapies for autism. For readers who would like to learn more about current safe and effective strategies for supporting people living with autism, we invite you to visit the website of the Association for Science in Autism Treatment.
Sincerely,
Shravanthi Chidambaram, PhD
Erin Leif, PhD, BCBA-D
Association for Science in Autism Treatment
