ENRRICH has partnered with the Manitoba Rett Syndrome Association to spotlight research advancing our understanding of Rett syndrome. Rett syndrome is a rare, severe, and progressive neurodevelopmental disorder that primarily affects females. Although affected individuals typically appear normal at birth and during early infancy, developmental regression begins within the first two years of life. During this period, they lose previously acquired skills, including speech and purposeful hand use. Many patients also develop additional neurological features such as seizures, breathing irregularities, motor impairments, and intellectual disability. This month, we feature Dr. Mojgan Rastegar, Professor of Biochemistry and Medical Genetics. Dr. Rastegar has worked closely with the Manitoba Rett Syndrome Association through her research focused on understanding how genes are controlled during brain development and function. Her work helps uncover the biological changes that occur in conditions like Rett syndrome, providing important knowledge that may guide future treatments and improve outcomes for affected individuals and families. Dr. Rastegar is also a highly accomplished researcher and leader, most recently recognized as one of Canada’s 100 Most Powerful Women by the Women’s Executive Network (read more here)

To start, we at ENRRICH wanted to congratulate you on being recognized by the Women’s Executive Network. Tell us about anything that’s changed on your end since we’ve last published your thoughts on ENRRICH-ED, and the lead-up to you being recognized as one of the 2025 most powerful women in Canada.

Thank you for your warm words. Since ENRRICH last shared my reflections through ENRRICH-ED, my work has continued to evolve across several dimensions, including scientific advancement, training the next generation of scientists, and service to our communities in various capacities. Scientifically, my lab has expanded its focus on understanding how changes in our DNA or chemical changes to the DNA can shape brain development and contribute to neurodevelopmental disorders such as Rett syndrome. Our research includes both fundamental studies to better understand how the brain develops, as well as early-stage testing of potential treatments using mouse models and cells grown in the laboratory. At the same time, my engagement with patient advocacy groups, including the Manitoba Rett Syndrome Association, has grown stronger and more meaningful, reinforcing the importance of aligning research with real experience.

Being recognized as one of Canada’s 100 Most Powerful Women has been both humbling and exciting. This recognition reflects not only my own scientific and academic journey, but also the collective efforts of my trainees, collaborators, and community partners who have made this work possible. The lead-up to this recognition was shaped by years of persistence, mentorship, and a strong commitment to advancing equity, inclusion, and translational impact in science. If anything has changed since receiving the award, it is a renewed sense of responsibility—to continue mentoring the next generation of scientists, to further advance research using cutting-edge technologies, and to ensure that our scientific discoveries ultimately serve the communities that inspire them.

In the UM’s announcement of your recognition, they highlighted your work regarding Rett Syndrome. Can you give us a brief overview of your research on Rett Syndrome, and if you have any updates in your preclinical trials?

My research on Rett syndrome started about two decades ago, and it focuses on understanding how disruptions in epigenetic regulation affect brain development and neuronal function. Epigenetic regulation can be understood as how one’s environment and behaviour can influence how genes are expressed. Rett syndrome is primarily caused by DNA changes in the MECP2 gene. The MECP2 gene is a blueprint to make the functional MeCP2 protein which plays a critical role in controlling gene expression in the brain. In my lab, we study how MeCP2 protein and downstream regulatory mechanisms control neuronal differentiation, maturation, and function, as well as synaptic formation and neural circuitry in the brain. In addition, we investigate how their dysfunction would lead to the neurological impairment in Rett syndrome.

In parallel with this basic research concepts, we are actively pursuing preclinical studies aimed at identifying therapeutic strategies that can improve neuronal function in Rett syndrome. Using genetically engineered mouse models of the disease, complemented with human cell models of Rett syndrome, we are testing pharmacological approaches that target pathways disrupted by MeCP2 disease-causing variants. These studies are ongoing, but we are encouraged by early findings suggesting that some interventions may partially restore disease-associated molecular and/or functional deficits in mouse or cellular models of Rett syndrome. While much more work would be needed before clinical translation, our results support the potential of beneficial drug therapy strategies for Rett syndrome in the future.

What are some key insights everyone should know about how the brain/neurons function that the average person doesn't?

An important point to consider is that the brain is an extremely complex organ and is precisely controlled at the molecular and cellular levels. Nerve cells (neurons) are highly dynamic cells with a unique epigenetic landscape that can regulates their connections based on experience, learning, and environmental impact, a functional property known as neuronal plasticity. This means that the brain may continue to adapt throughout life and influenced by environment, not just during childhood.

Another critical point is that brain function does not rely only on neurons that fire electrical signals, but also on tight regulation of gene expression in each individual brain cell. Even marginal change in the expression of certain genes may have severe effects on brain development, behavior, and cognition. This is especially relevant for neurodevelopmental disorders, where the underlying issue may necessarily not be neuronal loss, but disrupted regulation of neuronal function. In case of Rett Syndrome, not only neurons, but also other cell types can be affected by MeCP2 disease-causing variants and contribute to disease pathobiology.

It is important to note that our brain works as an integrated network of cells that are accurately controlled at different levels. Different brain functions such as cognition, control of body movement, emotion, and speech, etc., are under key regulatory mechanisms that may be specific to different parts of the brain and rely on coordinated communication across specific brain regions. When this communication is affected, it may lead to neurological conditions that are often presented with a wide range of symptoms.

How can ENRRICH work with clinicians, families, and advocacy organizations to ensure that research findings translate into concrete improvements in clinical care, support services, treatment innovations and quality of life for individuals with Rett Syndrome?

I believe that meaningful and lasting improvements in the lives of individuals with Rett syndrome and their families come from strong collaborations among researchers, clinicians, families, and advocacy organizations. ENRRICH can play an important role in bringing together academic researchers, healthcare professionals, clinicians, and physicians, and in creating opportunities for an open and ongoing dialogue. By ensuring that the priorities of individuals with Rett syndrome and their families help shape research directions, ENRRICH supports research studies that are both relevant and impactful. Through transparent and accessible communication, encouragement of co-developed research, and fostering scientific collaborations, ENRRICH can help bridging scientific discoveries into real-life possibilities—leading to better clinical care, stronger support services, innovative treatments, and meaningful improvements in quality of life for the Rett Syndrome community.

As individuals with Rett age into adolescence or adulthood, what care gaps exist, and how can ENRRICH advocate for long-term, age-appropriate supports (mobility, communication, medical care, social inclusion)?

As individuals with Rett syndrome grow into adolescence and adulthood, their families may face gaps in care. While I am not fully familiar with all health-care support systems for adult patients with Rett syndrome, it is likely that services available during childhood may become less accessible later in life.

In my view, ENRRICH can play an important role in supporting families by advocating for lifelong, age-appropriate care that evolves with the needs of individuals with Rett syndrome. By amplifying Rett syndrome family voices, promoting coordinated adult care, and encouraging continued access to therapies and inclusive community supports, ENRRICH can help ensure that individuals with Rett syndrome and their families feel supported, connected, and valued at every stage of life.

What can ENRRICH do to raise public and policymaker awareness about Rett syndrome - not only as a rare genetic disorder, but as a chronic life-long condition requiring systemic support?

As you mentioned, I also I believe ENRRICH can help raise awareness about Rett syndrome by advocating that it is not just a rare genetic disorder, but a lifelong condition requiring ongoing and intensive support. Sharing the experiences of individuals with Rett syndrome and their families, through stories, events, and accessible research findings. This would help the public and policymakers understand the daily challenges and needs they face.

By engaging directly with decision-makers and healthcare policymakers, and advocating for coordinated medical care, therapies, and social inclusion, ENRRICH can help ensure that systems are in place to support individuals with Rett syndrome throughout their lives.

I hope that one day we will find a cure for this devastating disease that can manage symptoms and reduce the challenges faced by Rett Syndrome patients and their families.

To hear more about Dr. Rastegar’s work with the Manitoba Rett Syndrome Association, please take a moment to view these videos:

Video 1

Video 2

Video 3

Published March 2, 2026

ENRRICH Shines a Spotlight on Rett Syndrome – Part 1: Dr. Mojgan Rastegar

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