Katie Boychuck (Board Chair) with son, Collin, and Ricardo Ramirez, PhD (CSO)
Dear MED13L Community,
I recently had the privilege of meeting with two MED13L mothers during a Roadshow here in Boston. I am deeply grateful for the time they dedicated to expanding our biorepository, but even more meaningful were the conversations we shared about their families, their experiences, and how the MED13L Foundation can continue to better support our community.
Those conversations reminded me of something important: every family's journey is unique, but many of the questions are shared. Questions like, "Can I have another child without the risk of MED13L syndrome?" or "Are there treatments available today?" are deeply personal, and they deserve thoughtful, compassionate answers.
Our mission extends far beyond advancing research. While we are working every day to accelerate biomarker discovery, therapeutic development, and future clinical trials, we are equally committed to helping families navigate life today. Whether it's understanding a diagnosis, finding medical resources, or simply knowing where to turn with a question, we want the Foundation to be a trusted source of support.
If there's one question I continually ask myself, it's this: How can I/we better help you?
Our website and newsletters are designed to share the latest scientific discoveries, research updates, and practical resources, but I also recognize that nothing replaces a conversation.
So here's my commitment to you: I want to meet every family in our community. In the coming months, I'll begin hosting regular virtual office hours, an informal, open-door opportunity where anyone can schedule time to ask questions, discuss research, or simply connect. No agenda, no expectations, just a conversation.
And here's my request: Stay connected. Read our newsletters, ask questions, and never hesitate to reach out by email or social media. Your questions, ideas, and experiences help shape the direction of our Foundation and the research we pursue.
Together, we are building more than a research program; we are building a community where every family is heard, every voice matters, and every individual with MED13L inspires us to move forward.
Thank you for being part of this journey.
Ricardo N. Ramirez, PhD
Chief Scientific Officer
Help Shape Our Biggest MED13L Family & Research Conference Yet
After welcoming more than 50 families to Boston in 2025, we're already looking ahead to 2027. Can we bring together 100 families? We think we can, and we'd love your help making it happen.
To develop our list of potential host cities, we started by mapping where registered MED13L families live around the world. We then considered factors like proximity to major airports, travel costs, hotel affordability, accessibility, family-friendly accommodations, and access to conference facilities that can support both family programming and research presentations. If you haven't registered with the Foundation yet, please do. Every registration helps us better understand our growing community and make decisions like this. Register here.
Please take a few minutes to complete the survey below and vote based on where your family would realistically attend, taking into account travel, cost, accessibility, and your family's schedule.
Interested in helping plan the conference? We'd love to have you! Email info@med13l.org if you'd like to join the 2027 Family & Research Conference Planning Committee.
MED13L Is Part of a New Research Collaboration with Johns Hopkins
The MED13L Foundation has joined a research collaboration led by COMBINEDBrain, together with Johns Hopkins University and Dr. Jeff Coller, exploring a promising new approach for rare neurodevelopmental disorders. We're at the table alongside peer communities including the Kleefstra, Koolen-de Vries, DLG4 SHINE, and DYRK1A foundations.
Why it matters. MED13L is part of serious research at a leading university from the very beginning. Pooling resources across foundations lets each of us support the work at a fraction of the cost, and what's learned from one condition may help them all.
The science. In most cases of MED13L, one copy of the gene doesn't make enough protein, a pattern called haploinsufficiency that connects every disorder in this group. Dr. Coller's lab is studying "mRNA boosters," designed to help a person's existing working copy of the gene make more protein rather than editing or replacing DNA. This is early, exploratory research, not a treatment or a clinical trial, but it's a real step, and MED13L is in it.
How to help. Studies like this rely on patient-derived cell samples, so contributing to the COMBINEDBrain biorepository and joining the Simons SearchLight registry is one of the most valuable things families can do.
Introducing the MED13L Clinical Care Packet
The MED13L Foundation partnered this spring with a team of undergraduate students through the University of Notre Dame's Rare Advocacy and Research Experience (RARE) Project Network, a new initiative that pairs student teams with rare disease nonprofits for semester-long, project-based collaborations.
In collaboration with these students, we developed a new Clinical Care Packet designed to help families and healthcare providers navigate MED13L Syndrome with greater confidence.
This resource includes an overview of MED13L Syndrome, commonly reported symptoms and co-occurring conditions, care considerations, therapy and medication tracking tools, appointment worksheets, and additional resources for caregivers and clinicians. The packet is intended to help families organize important medical information and facilitate productive conversations with care teams.
Whether you're preparing for a new specialist appointment or looking for a comprehensive resource to share with your child's healthcare providers, this packet is designed to support you every step of the way.
Our student team spent the semester building this resource from the ground up. You can read more about the program and this year's inaugural cohort here.
Simons Searchlight Team at our 2025 Family & Research Conference
What the Latest Simons Searchlight Data Is Teaching Us
The newest Simons Searchlight MED13L Registry Update is here, and it reflects the experiences of 191 enrolled families, including detailed medical information from 86 participants. Every family who participates helps researchers better understand MED13L Syndrome and brings us one step closer to improving care and developing future treatments. See here.
Some findings continue to reinforce what many families know firsthand. Developmental delay and language impairment remain nearly universal, and low muscle tone was reported in 67 of 86 participants. Gastrointestinal concerns are also common, with 41 participants reporting constipation and 26 reporting reflux (GERD). These findings remind us that MED13L affects much more than development and communication, and they highlight the importance of addressing the whole person.
One finding, however, stands out above all the others.
Only 10 participants in the registry are over the age of 20.
That means much of what we know about MED13L comes from children. We are beginning to understand early development, but we still know very little about adulthood. Questions about long-term health, independence, quality of life, and aging remain largely unanswered because adults are still underrepresented in the data.
That is a gap we can change together.
Calling Adults with MED13L Syndrome (18+)
If you are an adult living with MED13L Syndrome, or you care for an adult with MED13L, your experience is one of the most important missing pieces in MED13L research.
Our Adult MED13L Survey was created to help us understand what life with MED13L looks like beyond childhood. We want to learn not only about medical history, but also about the supports that have helped, the challenges that remain, and the resources that could make the greatest difference for adults and their families.
The need for this survey came directly from our community. Families shared during our recent MED13L Q&A that adults deserve greater representation in research, and we heard you.
Every response helps build a clearer picture of MED13L across a lifetime.
Your story matters. Help shape the future of adult MED13L research by taking the survey.
Building the Foundation for Future Clinical Trials
One of the most exciting developments for our community is the continued progress of the ACTION Natural History Study, led by the outstanding team at Boston Children's Hospital in partnership with the MED13L Foundation.
I'm pleased to share that the first year of the study has been a tremendous success. The team has enrolled 30 individuals with MED13L syndrome and completed comprehensive baseline evaluations, creating one of the most robust natural history datasets ever assembled for our community.
Why is this so important? Before any new therapy can be tested, researchers must understand how MED13L syndrome changes over time and identify meaningful measures that can demonstrate whether a treatment is truly making a difference. This study is helping answer those critical questions and is laying the scientific groundwork for future clinical trials.
As we move into Year 2, the Boston Children's team will continue following participating families, collecting longitudinal data that will strengthen our understanding of MED13L syndrome and help guide the development of future therapies.
On behalf of the MED13L Foundation, I want to extend my sincere gratitude to Dr. Maya Chopra and the entire Boston Children's Hospital research team for their dedication and partnership. Most importantly, I want to thank every family who has participated in the study. Your time, trust, and commitment are creating a lasting legacy for our community. Every visit, every assessment, and every shared experience brings us one step closer to effective treatments for individuals living with MED13L syndrome.
Together, we are building the future of MED13L research.
A Free Course to Help Your Care Team Understand Rare Disease
We thank Global Genes for providing this free, accredited course designed to educate the next generation of healthcare professionals and patient advocates.
Rare diseases affect approximately 30 million Americans — roughly 1 in 10 people — yet the healthcare system remains critically underprepared to serve them. We hope that this resource serves our MED13L families and their healthcare teams.
The Rare Disease Curriculum is a seven-module, asynchronous online learning program developed in collaboration with the Rare Disease Diversity Coalition (RDDC) to equip healthcare professionals, caseworkers, patients, caregivers, and advocates with foundational and applied knowledge across the rare disease landscape.
Share it with your community or take the course below.
The MED13L Foundation Celebrated Genetic Testing Action Day
For many of us, the road to a MED13L diagnosis meant years of appointments and tests with no real answers. Genetic testing is what finally changed that. It gave our children a name for what they were living with, and it gave us this community.
That is exactly why this matters: only 1 in 8 children with an intellectual disability ever receives genetic testing. So many families are still waiting for an answer that could connect them to care, to research, and to a community like ours.
Genetic Testing Action Day, observed every July 25th, exists to change that. Led by Start Genetic®, it helps families access testing and find the answers they deserve.
If you know a family still searching, please share this with them. Visit the link below to learn more and help us spread the word, and stay tuned for more opportunities to get involved.
We are inviting members of the MED13L community to join us as guests on The Voices of MED13L Podcast. If you have not listened yet, you can find it here. Each episode is a real conversation with a family living with MED13L Syndrome. No scripts, no polish, just honest stories about the journey. This season we are focused on Growing Up with MED13L, and we want to hear from families at every stage.
Interviews are casual and run about an hour. If you are interested, email vdias@med13l.org with your name, your child's name, gender, and age, and your time zone.
We are also putting together a special Sibling Takeover episode this summer. If your child has a sibling who might want to participate, please mention that in your email too.
