Hello MED13L Community,
As we've moved through May, we want to take a moment to recognize the incredible strength, advocacy, and generosity of the MED13L community. May is MED13L Awareness Month, and every fundraiser created, donation made, story shared, and conversation started helps move research and awareness forward in meaningful ways.
To all of our families, supporters, advocates, and donors — thank you. Your continued support is helping build real momentum for MED13L research, clinical readiness, and future treatments.
This month, we are excited to share important updates from our Chief Scientific Officer, Ricardo Ramirez, PhD, along with ways you can continue making an impact throughout Awareness Month and beyond.
We are especially encouraged by the progress happening across our research initiatives, from natural history studies and biomarker validation to early drug repurposing efforts and long-term gene therapy development. These milestones are possible because of this community’s belief in a better future for individuals living with MED13L Syndrome.
As Awareness Month continues, we encourage you to keep sharing, fundraising, educating, and advocating. Whether you donate, participate in research, wear awareness merch, host a fundraiser, or simply start a conversation about MED13L, your voice truly matters.
Together, we are building awareness, accelerating research, and creating hope for families around the world.
With gratitude,
Spring 2026 Research Update
From Ricardo Ramirez, PhD — Chief Scientific Officer
The MED13L Foundation continues to make meaningful progress across multiple research initiatives designed to accelerate future treatments and clinical trials for MED13L Syndrome.
🧬 ACTION for MED13L Natural History Study
- 29 participants are fully enrolled
- Year 1 assessments are complete for 26 participants
- Early findings are expected this June
This study is helping researchers better understand MED13L Syndrome over time and is laying the groundwork for future clinical trials.
💊 Drug Repurposing & Biomarker Research
Researchers have identified a promising common NSAID (non-steroidal anti-inflammatory drug) through patient-derived neuron studies and plasma biomarker analysis. The findings emerged from two separate areas of research, strengthening confidence in the results.
While still in the early laboratory stage, this work could eventually lead to an observational clinical trial targeted for 2027. Biomarker validation research is also underway to help researchers measure treatment effects through blood testing in the future.
Important reminder: Families should NOT make medication changes based on this update without consulting their physician.
🧪 Gene Therapy Research
Long-term gene therapy research is also advancing through a partnership with UCSF. Researchers are developing a CRISPRa-based approach designed to increase activity from the healthy copy of the MED13L gene.
While still in proof-of-concept development, this work represents an exciting step toward future targeted therapies for MED13L Syndrome.
Every family who participates in research studies, contributes samples, shares their story, fundraises, or supports the Foundation is helping move this work forward.
Thank you for being part of this progress.
Last Call to Start Your MED13L Fundraiser!
May is MED13L Awareness Month, a time to come together, raise our voices, and support the families and research efforts that matter most. One of the most powerful ways you can help is by creating your own fundraiser (in person or virtually!).
Start Your Fundraiser in just 30 seconds!:
👉 Create Your Page
👉 Share Your Story
👉 Spread the Word
Need inspiration? Try these fundraising ideas: Birthday campaigns, walk/run challenges, lemonade stands, school or scout projects, social media challenges, or community events.
Every dollar raised helps fund critical research, grow awareness, and support families impacted by MED13L. Start your fundraiser today and be a part of something meaningful this May.
Need assistance? Message Stephanie Khio (skhio@med13l.org).
Donate this May for a chance to win!
Every donation made during MED13L Awareness Month helps fund critical research, advocacy, and support for families around the world. This month, your generosity could also win you an incredible prize!
Donors will be entered for a chance to win:
✏️ A custom hand-drawn family illustration
👕 A MED13L t-shirt in the color Charcoal (Size: S).
🦓 A hand-painted zebra portrait
📸 A family photoshoot session
Donate using the button below or through any of our Instagram fundraising posts to be entered. Every share, dollar, and act of support helps move MED13L research forward!
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Hand-drawn Family Illustration by MED13L Mom, Hanna Liu.
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On Wednesdays We Wear #RARE T-Shirt (Size: S)
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Hand-painted Zebra Portrait by Molly Archibald
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1-hour Family Photoshoot by Stephanie Khio (IL residents only)
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Enter for a chance to win!
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🚴 Ride for Rare — June 13, 2026
Join us for the Million Dollar Bike Ride on Saturday, June 13, 2026, and help turn every mile into meaningful progress for rare disease research.
This event is a powerful opportunity to raise awareness, build community, and support research for MED13L and other rare diseases.
Interested in creating a team? All rare disease communities are welcome to participate and make an impact.
Can’t attend, but still want to participate? There’s a virtual option to ride, too!
👉 Register or start your team today: www.milliondollarbikeride.org
MED13L Family Meetup: Friday, June 12
All families (and those attending the Million Dollar Bike Ride) are invited to join us for a relaxed evening of connection and community before ride day! No need to be enrolled in the Bike Ride to join!
📍 Lucky Strike Philadelphia
1336 Chestnut St
Philadelphia, PA 19107
🕓 Friday, June 12
4:00–6:00 PM
🎳 Bowling + light bites provided
There’s no formal agenda — just a chance to connect! Families are welcome to participate as much or as little as feels comfortable. We hope this gathering creates a meaningful opportunity for connection ahead of the weekend’s events.
If you are interested in attending, please email Vanessa Dias at vdias@med13l.org.
✉️RSVP to febtue@gmail.com
Missed the latest MED13L Q&A with CSO, Ricardo Ramirez?
Calling MED13L Families – Share Your Story on The Voices of MED13L 🎙️
We are inviting members of the MED13L community to join us as guests on The Voices of MED13L Podcast. This podcast is a space to share real journeys, celebrate progress, and connect families through lived experience.
If you are interested in participating, please email vdias@med13l.org with the following information:
- Your name
- Your child’s name, gender, and age
- Your time zone
Participants should plan for a casual, one-hour interview. The conversation will be informal and focused on hearing your family’s journey and where your child is at this stage in their life.
We are also building a list of families interested in sibling interviews for a special Sibling Takeover episode scheduled for Wednesday, June 3 at 8:00 PM EST. If your child’s sibling may be interested in participating this summer, please note that in your email as well.
Thank you for helping us amplify the voices of our community. We look forward to hearing from you!
💙 Together, we make every MED13L story count.
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