MEF2Cast

In today’s episode, we are joined by Dr. Tim O’Sullivan, a immunologist at UCLA, as well as his graduate student Cassidy Lee. Dr. O’Sullivan and Cassidy join us to discuss the emerging research on MEF2C’s role in immune function. Subjects covered include:

• MEF2C’s role in natural killer (NK) cell function

• How MEF2C may affect lipid metabolism and, therefore, immune function

• Oleic acid as a potential treatment for MEF2C-related immune deficiency

• The current landscape of scientific funding and why you should care

• The importance of scientific curiosity and how it can lead to unexpected discoveries

And so much more!

The videos Dr O’Sullivan mentions can be found here: https://www.youtube.com/watch?v=lXfEK8G8CUI

If you liked this episode, please comment, review, and subscribe to hear more episodes like this one. 

If you have any questions, concerns, or are interested in being a guest, please reach out to us via Facebook or email.

Thank you to all of our listeners for their time. We love you all!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

In this episode, we sit down with Moriah and Adam Zwick to discuss their journey raising Noah — a bright and determined little boy with a rare genetic condition. Mariah and Adam open up about the earliest signs that something was different, the emotional challenges of pursuing a diagnosis, and the complex world of therapies, specialists, and support systems that followed.

The conversation explores the realities of parenting a child with special needs, with a particular focus on Cortical Visual Impairment (CVI) and the importance of early diagnosis and intervention. Together, we discuss how intuition guided their search for answers, the emotional toll and resilience that come with parenting through uncertainty, and the lessons they’ve learned about advocacy, patience, and hope.

Through their honesty and perspective, the Zwicks shed light on the importance of community, access to care, and celebrating every small victory. Their story is one of courage, persistence, and love — a reflection of the heart that drives so many families in the MCHS community.

Subjects covered include:

• ​Trusting parental intuition and recognizing early signs
• ​The emotional weight and relief of receiving a diagnosis
• ​Understanding CVI and the importance of early intervention
• ​Navigating therapies and finding the right fit for your child
• ​How access to services often depends on income, not need
• ​The emotional toll of parenting a child with special needs
• ​Building community and finding support along the way
• ​Learning to celebrate small wins and continued progress
• ​Hope and resilience within the MCHS community

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In this episode, we dive into the promising world of gene therapy with Dr. Steven Gray from the University of Texas Southwestern and Caroline Claflin, co-founder of the MEF2C Family Foundation.

Dr. Gray shares his two-decade journey in gene therapy—beginning at the University of North Carolina—where his focus on virus-based treatments has led to pioneering work in neurodegenerative and neurodevelopmental diseases such as Rett syndrome and MEF2C-related disorders. Caroline discusses the foundation’s new partnership with Dr. Gray’s lab, uniting science and community advocacy to explore AAV9 vector technology as a potential treatment path for MEF2C haploinsufficiency syndrome (MCHS).

Together, they unpack what makes AAV9 so powerful for reaching the brain, the hurdles of dose optimization and safe gene expression, and how open-source research and collaboration are accelerating discovery. Dr. Gray and Caroline also highlight the critical role of families, registries, and advocacy groups in driving research from concept to clinic.

As gene therapy moves closer to reality, this conversation offers a hopeful, behind-the-scenes look at how community and science come together to push progress forward.

Subjects covered include:

• Dr. Gray’s path into gene therapy and the evolution of AAV research

• How the AAV9 vector targets the brain and what makes it promising for MCHS

• The challenges of dose sensitivity and ensuring safe gene delivery

• The MEF2C Family Foundation’s collaboration with Dr. Gray’s lab and collaboration with Dr. Cowan's lab

• The importance of patient advocacy and open-source research

• The decreasing cost of AAV manufacturing and future accessibility

• How community participation fuels discovery and therapeutic progress

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In this episode, we sit down with Erica Anderson, a Board-Certified Behavior Analyst (BCBA), to explore the evolution of Applied Behavior Analysis (ABA) and how modern practices are shifting toward inclusivity, empathy, and collaboration. Erica shares her personal journey into the field, beginning in high school with a passion for supporting autistic individuals, and reflects on how ABA has transformed from its controversial roots to a more compassionate, individualized approach.

The conversation highlights the importance of functional communication, understanding behaviors like stimming as self-regulation, and recognizing progress in every form. Erica also explains the BCBA’s role within educational settings, from working alongside RBTs and therapists to empowering parents and educators to advocate effectively for their children. Together, we discuss what it truly means to presume competence and build systems of support that meet every child where they are.

Subjects covered include:

• Erica’s path into the field of ABA and her passion for autism support

• How ABA has evolved to emphasize inclusivity and respect for neurodiversity

• Understanding stimming as a natural form of self-regulation

• Functional communication goals for nonverbal and minimally verbal children

• Collaborative work between BCBAs, RBTs, and educational teams

• The importance of presuming competence in all learners

• Practical advice for parents navigating the educational system

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In today’s Core Conversations episode, we are joined by Sam Fox, Spelling to Communicate (S2C) practitioner and owner of Beyond Speech Therapy Center in Munroe Falls, OH.

Sam joins us to discuss spelling as a means of communication for non-speaking or unreliably speaking individuals, and the S2C system. Some highlights include:

• The philosophy and controversy around spelling

• Who could benefit from spelling to communicate

• The challenges of apraxia and how spelling can help

• The relationship between the speller and communication partners

• The importance of presuming competence

• The doors that spelling can open for people

• Books, movies, and other media telling spellers’ stories

• The eloquence and insight that many spellers have

• Personal success stories of clients

• And much more!

Please check out Beyond Speech Therapy Center at the links below:
https://beyondspeechtherapycenter.com

Learn more about S2C and find a practitioner in your area here: https://i-asc.org

Some links to things mentioned during the episode:

• Underestimated: An Autism Miracle

• Lights in the Darkness

• Spellers: The Movie

• The Telepathy Tapes

If you liked this episode, please comment, review, and subscribe to hear more episodes like this one.

If you have any questions, concerns, or are interested in being a guest, please reach out to us via Facebook or email.

Thank you to all of our listeners for their time. We love you all!

👉 Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749
👉 Email us: [email protected]
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In this first installment of our Core Conversations series, we explore the critical role of MEF2C, a transcription factor that shapes early brain development and influences a wide range of neurological functions. This conversation unpacks how MEF2C regulates gene expression, orchestrates neuronal pruning, and affects both excitatory and inhibitory neurons. We also dive into its connections with autism spectrum disorders, sleep regulation, motor coordination, and sensory processing.

The discussion highlights ongoing research into therapeutic strategies—including the promise of gene therapy and viral delivery of MEF2C—and underscores the vital role families play in advancing this science. By understanding MEF2C’s multifaceted impact on the brain, researchers and families alike can work together to build the foundation for more effective treatments for conditions like MCHS.

Subjects covered include:

• Understanding MEF2C as a transcription factor in brain development

• How MEF2C loss contributes to autism and related disorders

• The balance between excitatory and inhibitory neurons

• Why neuronal pruning is key to healthy brain function

• Links between MEF2C and sensory, motor, and sleep regulation

• The influence of microglia on brain health

• Current therapeutic approaches, from gene therapy to viral delivery

• Why family engagement is essential for moving research forward

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Episode 24: Autism and Movement with Sheena Leedham

In this episode, we sit down with Sheena Leedham, an educator and trainer whose work highlights the power of movement in the autism community. Sheena shares her unexpected journey into this field, emphasizing how physical milestones and skill acquisition play a crucial role in child development.

The conversation explores how exercise and structured training can be adapted to meet the needs of autistic individuals. Sheena explains why creating a supportive environment matters, how integrating choice and motivation can boost engagement, and why observational skills are critical for trainers and parents alike. She also offers practical strategies—like using schedules for predictability—and discusses how movement, like any other skill, requires practice and progression.

Sheena’s insights and resources, including her books, provide valuable guidance for parents and trainers seeking to better support autistic children through movement and exercise.

Subjects covered include:

• Sheena’s journey into the autism community

• Physical milestones and their role in development

• Skill acquisition through movement and exercise

• Building supportive environments for success

• The importance of choice and motivation in training

• Observational skills for trainers and parents

• How schedules create structure and predictability

• Movement as a practiced, progressive skill

• Adapting training techniques to individual needs

• Resources for parents and trainers

Links:
🌐 Website: https://mef2cast.com
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In this episode of the MEF2Cast, Blake Kelly shares her personal journey of raising her son Oscar, who has MCHS. She discusses the challenges of navigating healthcare in Amsterdam compared to the U.S., the emotional rollercoaster of receiving a diagnosis, and the importance of building a supportive community. Blake reflects on the various therapies and interventions they have tried, the balance of caregiving, and the unique personality and humor of her son. The conversation highlights the ongoing challenges of managing seizures and the innovative approaches that have made a difference in Oscar's life. In this conversation, Blake Kelly shares her experiences as a parent of a child with special needs, focusing on the challenges and triumphs of communication, education, and social interactions. She discusses the importance of advocacy, resource management, and the transition to adulthood for her son, Oscar. Throughout the dialogue, Blake reflects on her personal growth and the lessons learned from parenting, emphasizing the need for self-care and the significance of finding joy in everyday moments.

Subjects covered include:

• Communication with nonverbal individuals requires immense energy.
• Educational settings should be engaging to prevent boredom.
• Social interactions are crucial for personal development.
• Advocacy is essential for accessing resources and support.
• Transitioning to adulthood involves planning and preparation.
• Parenting a child with special needs brings both challenges and rewards.
• Self-care is vital for sustaining long-term caregiving.
• Guilt is a common feeling among parents of children with disabilities.
• Finding joy in small moments is important for well-being.
• Building a supportive community can ease the journey.

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In this episode, we sit down with Dr. Zachary Grinspan, a pediatric neurologist whose work focuses on MEF2C haploinsufficiency syndrome (MCHS). Dr. Grinspan leads the Volāre study, a groundbreaking effort to map the natural history of MCHS and build the foundation for future therapies. He explains the role of the MEF2C gene in brain development, why seizures are so common in this community, and how EEG data may unlock new biomarkers to guide treatment.

The conversation explores the complexities of sleep disturbances in affected children, the study’s mix of in-person and virtual participation, and the critical role of families in shaping research. Dr. Grinspan emphasizes that while there are still many unanswered questions, the data being collected today offers real hope for tomorrow’s therapies.

Subjects covered include:

• Understanding the MEF2C gene and its role in development

• Seizures in MCHS and the excitatory–inhibitory imbalance

• EEG as a tool for identifying biomarkers

• The challenges of sleep issues in children with MCHS

• The Volāre study’s natural history design and participant experience

• Why community involvement is vital to successful research

• How data today can pave the way for future treatments

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Sign up for the Volāre Study here: https://redcap.link/MEF2C_WCM_registry

In this episode, we sit down with Kristina Johnson, a professor at Northeastern University and mother to her son Felix, who was diagnosed with MEF2C haploinsufficiency syndrome at just nine months old. Kristina shares her family’s journey — from the early signs of developmental delays that were initially dismissed, to the long and isolating road toward diagnosis, to the ways her personal and professional paths converged as she transitioned from physics to a career in child development and communication sciences.

The conversation highlights the importance of parental advocacy, the emotional realities of raising a child with complex needs, and the urgent need for better research methodologies to understand developmental trajectories. Kristina introduces the ROSCO project, a groundbreaking effort to reframe how communication is measured in children with neurodevelopmental disorders, centering caregiver insights, vocalizations, and new technologies like AI as powerful tools for growth.

Subjects covered include:

• Felix’s diagnosis at nine months and the challenges of early detection

• The role of parental intuition in navigating healthcare systems

• Isolation and resilience in the journey to diagnosis

• The transition from physics to communication sciences research

• The ROSCO project’s new framework for assessing communication

• Why caregiver input is vital in shaping communication metrics

• Emerging technologies (including AI) in communication research

• Understanding vocalizations as a new language

• Community collaboration and the challenges of study recruitment

• Empowering children through agency, tools, and effective research

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