US MEF2C Foundation

10/16/2026

💉The US MEF2C Foundation invites you to participate in the Blood Biomarker Investigations in Boston and Chicago. Contact [email protected] to discuss the possibility for other blood draw sites.

📅The investigation entails 3 blood draws spaced approximately 6 months apart. These can be scheduled at your leisure within the scheduled months. The MEF2C diagnosed patient and thier siblings are encouraged to participate.

🔬The purpose of these investigations is to provide the scientific and medical community with a better understanding of MEF2C disease biology and areas of concern. This can uncover disease pathways to inform clinical care and treatments, potentially highlighting commonalities with other rare conditions, suggesting shared therapeutic strategies.

These investigations will measure a broad spectrum of protein pathways focusing on neurology, oncology, inflammation, cardiometabolic and metabolism. It can indicate signs of:
*neurodegeneration / neuroinflammation
*neural development
*synaptic function
*glial cell communication
*blood brain barrier integrity
*immuno-oncology
*cytokine signaling

10/16/2026

🕣IT'S ALMOST TIME!! Sunday is the 2nd Sibling Connect! 📆
Register to receive the Zoom link at bit.ly/4dQNXkb or use the QR code.

Siblings of all MEF2C patients are welcome to attend.

10/13/2026

MEF2C families thrilled to participate in MEF2C research with the Lab of Dr. Wendy Chung at Boston Children's Hospital

10/11/2026

🩸UPDATED MIDWEST MEF2C BIOMARKER STUDY WITH REGISTRATION LINK‼️

10/09/2026

🌐💡 Our friends at just dropped a new quarterly report with updates from families like you! By sharing your insights over time, you help researchers track changes and milestones—driving progress in understanding this condition. Your participation truly makes a difference! 💙

Check out the latest report here: https://www.simonssearchlight.org/research/what-we-study/mef2c/

Not a current Simons Searchlight participant? Learn how you can contribute to research and be part of the next quarterly report: https://bit.ly/Why_Join_Simons_Searchlight

10/08/2026

🎙️We are excited to add Abby Turnwald as a guest host to the latest Sibling Connect on Sunday, October 18, 2026! Abby brings a wealth of experience in sibling support from other genetic organizations. She joins our wonderful hosts, sisters Lexi & Vivien Bean, in what is planned to be a fun and suppotive zoom session.

Please register at bit.ly/4dQNXkb or use the QR code pictured to be sent the link for the zoom call.

10/02/2026

Join us for Fun Fall Activities to connect with fellow MEF2C families at Boston family home!
When: October 12 from 2:30 - 5:30pm
What: Pumpkin Painting and other fall crafts, please wear Halloween costumes if you would like!
Where: The Bean Family Home, near Boston

09/29/2026

Thrilled to share the latest from ASC, which highlights the MEF2C regulon to include SCN2A, STXBP1, GRIN2A, and CACNA1A. Thank you to ASC for this great work and the possibility to explore these targets in relation to treatments!

This preprint, 'Autism genes converge on three functional programs organized by neuronal subclass, developmental timing, and cortical patterning,' sheds light on ASD associated networks, linked below

The Autism Sequencing Consortium, founded and led by Dr. Joseph Buxbaum at the Icahn School of Medicine at Mt. Sinai & Dr. Mark J. Daly at the Broad Institute of MIT and Harvard.

https://lnkd.in/eTPijwfU

https://lnkd.in/ebKndMxe

With the completion of the most recent Autism Sequencing Consortium (ASC) data freeze, the ASC and collaborator sites have submitted several linked papers, with additional manuscripts expected within six months. The six recently submitted ASC papers are: Satterstrom et al.

09/25/2026

📣 Calling siblings of MEF2C patients for the 2nd Sibling Connect!

🚸 Join siblings Lexi and Vivian Bean on a zoom call to connect and share experiences of being a sibling of someone with a MEF2C diagnosis. Sharing with others on the same journey can relieve feelings of isolation. We will also be advised by a counselor at Cincinnati Children's with extensive experience providing sibling support.

⏰The zoom will take place on Sunday, October 18, 2026 at 8:30 pm ET/7:30 pm CT/6:30 pm MT/5:30 pm PT.

💻To receive the zoom link, please register at bit.ly/4dQNXkb or use the QR code pictured.

09/25/2026

💉The US MEF2C Foundation invites you to participate in the Blood Biomarker Investigations in Boston and Chicago.

📅The investigagtion entails 3 blood draws spaced approximately 6 months apart. These can be scheduled at your leisure within the scheduled months. The MEF2C diagnosed patient and thier siblings are encouraged to participate.

🔬The purpose of these investigations is to provide the scientific and medical community with a better understanding of MEF2C disease biology and areas of concern. This can uncover disease pathways to inform clinical care and treatments, potentially highlighting commonalities with other rare conditions, suggesting shared therapeutic strategies.

These investigations will measure a broad spectrum of protein pathways focusing on neurology, oncology, inflammation, cardiometabolic and metabolism. It can indicate signs of:
*neurodegeneration / neuroinflammation
*neural development
*synaptic function
*glial cell communication
*blood brain barrier integrity
*immuno-oncology
*cytokine signaling