The Power of Gene Therapy: Unlocking Hope for Rett Syndrome and ASD

Welcome to an exciting world of science! I’ve never talked about Rett Syndrome before but there is an exciting twist to today’s episode. Today, Monica joins us as we delve into the fascinating realm of gene therapy and its potential to revolutionize the way we treat diseases. In this special episode of Turn Autism Around, we’re going to explore the connection between Rett syndrome and autism spectrum disorder (ASD) together, and the effect gene therapy could have for individuals living with these conditions. 


  • Introduction to Rhett syndrome and autism
  • Explanation of the genetic cause of Rett Syndrome
  • Discussion of the symptoms and challenges of Rett Syndrome
  • Overview of current treatments and therapies for Rett Syndrome
  • Experiences of individuals with Rett Syndrome and their family
  • The differences between Rett Syndrome and autism
  • Gene therapy and the role it plays in Rett Syndrome research
  • Rett Syndrome gene therapy clinical trials

Rett Syndrome and Autism: Similarities and Differences

I’m really interested in understanding more about Rett syndrome, a rare genetic disorder that mainly affects girls. According to the International Rett Syndrome Foundation , Rett affects approximate 1 in 10,000 girls and begins to present itself between 6-18 months.  It’s quite different from autism, which can impact both boys and girls. Rett syndrome is caused by a specific mutation on the MECP2 gene, and this mutation can cause the loss of purposeful hand skills, the inability to speak, and regression of motor and social skills. So, although Rett Syndrome and autism may look similar in young toddlers, there isn’t a specific gene that signifies autism like there is for Rett Syndrome. 

Rett Syndrome Gene Therapy

As we go through this journey, we’ll uncover the various symptoms, challenges, and treatments associated with Rett syndrome.Monica shares her personal journey with Rett Syndrome and how it has affected her daughter, and their whole family. She introduces her insights on gene therapy, along with the hope that gene therapy brings to the Rett Syndrome community. Since discovering the gene that causes Rett Syndrome, Monica explains how there are actually multiple gene therapy research studies on the go as we speak. 

And guess what? In our discussion, we talk about how gene therapy could help with autism detection and treatment in the future. It’s an exciting prospect that could make a huge difference in the lives of people with Rett syndrome and autism spectrum disorder. As I discuss in a previous podcast episode on advances in autism research, this topic is very important to me! 

So, let’s increase our awareness and knowledge about Rett syndrome together. This educational episode will amaze and inspire us as we explore the potential of gene therapy in the lives of those affected. Come on, let’s tune in now to Turn Autism Around and be part of this transformative experience!

rett syndrome

Monica on Turn Autism Around Podcast

Monica Coenraads is a dedicated advocate for Rett syndrome, driven by her personal experience as her daughter was diagnosed with the disorder. In 1999, she co-founded the Rett Syndrome Research Foundation (RSRF) and served as the scientific director for eight years, leading groundbreaking research that demonstrated the first global reversal of symptoms in preclinical models of Rett syndrome. In 2008, she launched the Rett Syndrome Research Trust (RSRT) to further advance research in the field.

As the CEO of RSRT, she oversees all aspects of the organization, sets the research agenda, and collaborates with the scientific community. Monica’s tireless efforts have raised nearly $100 million for Rett syndrome/MECP2 research. Beyond her work with RSRT, she is involved in various advisory councils and organizations, earning recognition and awards for her impactful contributions to the field of neurodevelopmental disorders. Monica holds honorary doctorate degrees from the University of Massachusetts Medical School and the University of Edinburgh, and she has an MBA in international business from the University of Connecticut.