Hello Reader,

As we close out 2025, I am filled with gratitude for a year defined by real progress and shared purpose. When we asked you to help us Make Every MED13L Story Count, you showed up and together we turned lived experience into measurable impact.

This year, MED13L reached important milestones. We published the first ever MED13L GeneReview, expanded research readiness through biomarker development, EEG data collection, and our biorepository, and for the first time funded genetic therapy programs and a new young investigator. Research also confirmed what families have long known, that motor speech impairment including apraxia and dysarthria is a core feature of MED13L Syndrome, giving clinicians and therapists the language to better support our children.

Just as importantly, we strengthened our community. Families connected through meetups, siblings bravely shared their stories, and researchers and families came together across the world reminding us that none of us are doing this alone.

Every survey, sample, fundraiser, and story mattered. This progress belongs to all of us. As you read the highlights below, I hope you feel proud of what we are building together and hopeful for what comes next.

In 2026, we will build on this momentum by translating data into clinical insight, expanding therapeutic development, and bringing our community even closer to a future with real options for our children.

With gratitude,

Listen to Research While You Go!

Let's Reflect on the Following Milestones of 2025...

In 2025, stories became science and community became momentum. Every contribution mattered. Here are the highlights that moved MED13L forward this year.

Help us continue to count every MED13L diagnosis. Complete the 2025 MED13L Census so every story is represented and every future decision is informed by our full community.

Research Milestones 📈

MIND Study: Natural History Study Launch

We proudly launched the MIND Study (MED13L Investigation of Natural History and Development), a three-year, $250,000 clinical research initiative at Boston Children’s Hospital. This study kicked off at our 2025 Research and Family Meetup, where several families completed neurobehavioral assessments, ensuring family voices remain at the center of discovery.

First-Ever MED13L GeneReview Published

The publication of the, A major clinical milestone was reached with the publication of the first MED13L GeneReview, authored by Dr. Alicia Campbell. GeneReviews are used by clinicians worldwide and reach more than 10 million providers, helping ensure MED13L is recognized, diagnosed, and understood in clinical care. This work also builds on Dr. Strich and Dr. Campbell’s Foundation funded mitochondrial research, supported since 2023.

Watch Dr. Strich’s presentation here.

Motor Speech Research Breakthrough

Newly published research by Dr. Marissa Mitchell and Dr. Cora Taylor confirmed motor speech disorders as a core feature of MED13L Syndrome. These findings validate what families have long observed and reinforce the importance of early speech evaluation and specific interventions.

Watch our Apraxia Meeting here.

ASO Treatment Discovery Study🧪

ASO Treatment Discovery Study

We launched an early proof of concept study exploring a potential genetic treatment approach using antisense oligonucleotides (ASOs). This research is testing whether a targeted genetic strategy can help cells make more healthy MED13L protein, which may one day become a future treatment option for MED13L Syndrome.

Watch Dr. Bourdeau’s presentation here.

BioGENE & Biorepository Progress 🩸

BioGENE Study Expansion

Building on the first EEG collection completed in 2022, we significantly expanded EEG data collection at the 2025 Family and Research Conference. With data from 28 participants, this is now one of the largest EEG datasets for any rare neurodevelopmental disorder. A new grant supports a full year of analysis to develop EEG based biomarkers, which are critical for understanding brain function and measuring treatment response in future clinical trials.

Watch Dr. Hudac’s presentation here.

COMBINEDBrain 2025 Roadshow

Families contributed biological samples through the COMBINEDBrain 2025 Roadshow, with collections held at rare disease conferences nationwide. These samples are stored in a secure, centralized MED13L biorepository that researchers can access to study disease mechanisms and develop future treatments. This effort strengthens data quality, expands representation, and builds infrastructure for clinical trials. The 2026 Roadshow schedule will be released this spring.

Community, Connection & Advocacy

2025 Research & Family Meetup

Our 2025 Research & Family Meetup brought families and researchers together under one shared message: Make Every Story Count. The energy, honesty, and collaboration from this gathering continue to fuel our work. For those who couldn’t attend, all presentations are available on our YouTube channel.

MED13L Syndrome Association Conference (Lyon, France)

At the MED13L Syndrome Association Conference in Lyon, families and researchers gathered to strengthen international collaboration. The Foundation supported Dr. Alicia Campbell in traveling to Paris to present her mitochondrial research to the European community. Dr. Marissa Mitchell also presented the same motor speech findings she shared at our Boston conference, reinforcing her deep commitment to the MED13L community and the importance of aligning research with lived experience.

Atlanta Rare Reception & Family Meetup

We were honored to co host the Rare Reception on the eve of AES 2025, standing alongside leading advocacy, research, and industry partners. This invitation reflects how far the MED13L community has come in a short time. We also hosted a MED13L family meetup, continuing our commitment to smaller, local gatherings that build trust and connection.

Podcast Launch: The Voices of MED13L

We launched “The Voices of MED13L,” a podcast dedicated to sharing family stories, expert insights, and research updates, creating space for connection and understanding.

Community Spotlight: Sophie Seaver

Sophie Seaver’s award-winning song Another You, inspired by her twin sister Ella, used music to advocate for MED13L on a national stage, reminding us of the powerful role siblings and creativity play in awareness.

Fundraising Impact: MED13L Golf Tournament

The 4th Annual MED13L Golf Tournament helped push total tournament fundraising past $107,000— directly supporting research and family programs.

What’s to Come in 2026 🔎

As we look ahead to 2026, we are energized by what is possible, especially with new research partnerships, including an exciting collaboration with the University of California, San Francisco. These opportunities represent real momentum for MED13L research, but as we plan the year ahead, we need you. Your lived experience matters, and your input helps guide where we focus our time, energy, and resources. Please take a moment to complete our 2026 Priority Survey and tell us what you want the Foundation to prioritize next year.

Road Full of Promise Concert Fundraiser

📅 January 24, 2026

📍 Joe’s Live in Rosemont, IL

After raising more than $250,000 in 2025, the Road Full of Promise Concert returns in 2026 at a larger venue, Joe’s Live in Rosemont.

Proceeds will directly support future research, grants, and programs for the MED13L community.

Purchase Tickets

CRISPRa Research with UCSF

Through a new sponsored research agreement, researchers at the University of California, San Francisco will explore CRISPRa proof of concept strategies designed to increase MED13L gene activity. This early stage work helps lay the foundation for potential future therapeutic approaches.