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.
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Thank you to all of our listeners for their time. We love you all!
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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:
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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
Resources mentioned in the episode:
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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!
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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:
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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:
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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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In this episode, we sit down with Jennifer and Kieth Aguirre, parents to their daughter Maddie, who has MEF2C haploinsufficiency syndrome. The Aguirres share their family’s journey — from the long road to diagnosis, to relocating to Colorado in search of better resources, to the ongoing process of navigating education, life skills, and community support.
The conversation highlights both the challenges and the hope found in parenting a child with complex needs. Jennifer and Kieth open up about coping with grief, fostering Maddie’s independence, and the transformative role of music, technology, and alternative communication methods in her development. Their story is one of perseverance, resilience, and love — offering encouragement to families walking a similar path.
Subjects covered include:
The Aguirre family’s move to Colorado for resources and support
Challenges in Maddie’s early development and diagnosis journey
Limited education options and the shift toward life skills
Coping with grief as parents of a child with special needs
The importance of community connections for Maddie’s well-being
The impact of music therapy on communication and growth
Technology’s role in learning and engagement
Alternative communication methods for non-verbal children
Fostering independence and future aspirations
The unique ways children express love and emotions
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In this episode, we sit down with Dr. Steve Skinner, CEO of Greenwood Genetic Center (GGC), and Jessica Cooley-Coleman, a genetic counselor at GGC, to explore the complexities of MEF2C haploinsufficiency syndrome. Together, they share their personal journeys in the field, discuss the genetic underpinnings of the condition, and explain the clinical features observed in patients. The conversation sheds light on the importance of natural history studies, the relationship between MEF2C and autism, and the ongoing challenges families face when navigating the medical landscape. Dr. Skinner and Jessica emphasize how continued research, collaboration, and family participation are key to improving understanding and developing future treatment options. Subjects covered include:
The role of the MEF2C gene in development
Insights from natural history studies
Seizures in MEF2C haploinsufficiency
MEF2C’s connection to autism
Understanding how genetic mutations occur
Variability in dysmorphic features
Potential cardiac associations
Genotype-phenotype correlations
Family involvement in research
Future directions in gene therapy and editing
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🔬 Learn more about GGC: www.ggc.org
🎙️ In today’s episode, we’re joined by the Bouvier family as they share their heartfelt journey with their daughter, Taylor, who has Mef2C Haploinsufficiency Syndrome (MCHS).
Together, we discuss the emotional and practical realities of parenting a child with special needs—from the long road to diagnosis to the power of building a strong support network. The Bouviers open up about the therapies and interventions that have helped Taylor, the communication breakthroughs they’ve experienced, and the importance of advocacy in navigating this path.
Some highlights include:
The winding journey to Taylor’s diagnosis
Building a support system that truly understands
How therapies have shaped Taylor’s development
Evolving communication and celebrating every win
Advocacy in medical and educational settings
The emotional toll—and the joy—of special needs parenting
Holding onto hope for a brighter future for kids with MCHS
…and so much more.
If this episode resonated with you, please like, share, and subscribe to hear more stories from the MCHS community.
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Thank you for being here. We’re so grateful for each of you. 💚
In today’s episode, we are joined by Lauren, Kacee, and Tyler, a dedicated team of therapists working with Margo, a young girl with MCHS. They join us to discuss the interdisciplinary approach in pediatric therapy and its impact on Margo's development. Subjects covered include:
And so much more!
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!
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In today’s episode, we are joined by Camila and Jedidiah Seaman, parents to Margo. Camila and Jedidiah join us to discuss Margo’s story, the lessons learned along the way, and their hopes for the future. Subjects discussed include:
Margo’s journey to diagnosis
How Jedidiah and Camila are processing the diagnosis
Therapeutic techniques that have been useful for Margo
The importance of having a good care team
The support therapists provide to both the patient and their families
And so much more!
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: MEF2Cast@gmail.com
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: MEF2Cast@gmail.com
In today's episode, We are joined by Addyson Moore, mother to Lydia. Addyson shares her adoption story and how she became Lydia's mom as well as her experiences with MCHS. Subjects discussed include:
and so much more!
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: MEF2Cast@gmail.com
In today’s episode, we are joined by Alain Greige, a graduate student from Dr. Cowan’s lab at MUSC. Alain joins us to discuss the nuts and bolts of MCHS and the future of treatment. Some highlights include:
MEF2C’s role in neurological development
The relationship between autism and MCHS
TSBs as treatment for MCHS and what that might look like
The importance of the community’s involvement in research
And so much more!
If you liked this episode, please comment, review, and subscribe to hear more episodes like this one.
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Thank you to all of our listeners for their time. We love you all!
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Email us: MEF2Cast@gmail.com
In today’s episode of the MEF2Cast, we interviewed Jamie Lundy, Certified Genetic Counselor with Simons Searchlight. Jamie joins us to give us a lesson in the basics of genetics and to share her expertise and insights on MCHS. Some subjects covered include:
The difference between nucleotides, genes, and chromosomes
How your body reads DNA
Introns vs Exons
The different kinds of genetic variants
Genotype vs phenotype
Germline mosaicism
The various types of genetic testing
And so much more!
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 y’all!
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Email us: MEF2Cast@gmail.com
Find Simons Searchlight here:
In today’s episode, we are joined by Sheila and Richard Carter, parents to Richmond.
Sheila and Richard join us to discuss Richmond’s journey to diagnosis, their lives as MCHS parents, and tips and tricks learned along the way. Some highlights include:
The power of a mother’s intuition and how it led her to seek diagnosis
Richmond’s struggles with abdominal migraines
Richmond’s daily life now
Richmond’s use of an eye-gaze device
The pros and cons of receiving diagnosis and how to transmute the uncertainty into empowerment
The role that faith plays in the Carters’ life
The call to adventure that parenting can provide
And so much more!
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: MEF2Cast@gmail.com
