Tubb2a Foundation

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Tubb2a Foundation Supporting families and advancing research for children and individuals affected by TUBB2A-related conditions. Our journey began with questions.

We offer trusted resources, emotional support, and a growing global community of caregivers, clinicians, and researchers. i, I’m Jennifer—Connor’s mom and the founder of the TUBB2A Foundation. So many questions. Connor was born with a quiet strength and a deep, expressive spirit. But early on, we noticed things that didn’t quite follow the usual path—developmental delays, vision challenges, low muscle tone, sensory sensitivities. Over time, we collected therapies, specialists, appointments, and diagnoses... but no clear answers. The process was long, exhausting, and often isolating. Eventually, after years of searching and advocating, we received Connor’s rare genetic diagnosis: a variant in the TUBB2A gene, one of the tubulinopathies that affect brain development and function. And just like that, we had an answer—but still very little guidance. TUBB2A-related conditions are so rare that many families go years without diagnosis. There are no roadmaps. No standard treatments. Few doctors who truly understand. And yet, families like ours are out here every day—navigating complex care, advocating in schools, managing seizures or mobility challenges, and doing our best to help our children thrive. That’s why I created the TUBB2A Foundation. To make sure no family feels alone in this. To bring together the latest research in a way that’s clear and empowering. To connect parents and caregivers from around the world. To raise awareness—and hope. To honor Connor, and every child like him. This foundation is built on love, determination, and the belief that every child deserves to be understood and supported. Whether you're newly diagnosed, years into your journey, or simply trying to learn more—there’s a place for you here. With hope and solidarity,
Jennifer Gehring
Founder, TUBB2A Foundation

🧠 NEW TUBULINOPATHY RESEARCH!A new study, “Developmental Profiles Associated with TUBA1A, TUBB2A, TUBB2B, and TUBB3 Tubu...
10/12/2026

🧠 NEW TUBULINOPATHY RESEARCH!
A new study, “Developmental Profiles Associated with TUBA1A, TUBB2A, TUBB2B, and TUBB3 Tubulinopathy Conditions,” has been published in the American Journal on Intellectual and Developmental Disabilities. 🎉

Researchers examined developmental profiles in 32 individuals with confirmed Tubulinopathies involving TUBA1A, TUBB2A, TUBB2B, or TUBB3. By looking across multiple areas of development, this study provides valuable insight into how these conditions can affect individuals and where additional research and support may be needed.

🔎 Some key findings:
• Most children demonstrated developmental challenges in a range of areas, including thinking, communication, movement, and daily living skills.
• Motor development was the area of greatest challenge for many children.
• On average, individuals with TUBB3-related conditions showed relatively milder developmental delays compared with the other groups studied.
• Co-occurring vision impairment was associated with greater overall developmental delays.

Studies like this help build the natural history knowledge needed to better understand the diverse experiences of people living with Tubulinopathies, and can help inform future research, interventions, and support for individuals and families.

Remy is 2 years old and lights up when something vibrates or makes a sound, especially toys he can hold against his chee...
10/12/2026

Remy is 2 years old and lights up when something vibrates or makes a sound, especially toys he can hold against his cheeks. He also loves music, singing, bubbles, and being around people who engage with him.

His family first noticed developmental delays when he was about 4 months old. At 16 months, an MRI and genetic testing led to an answer: TUBB2A

He is so much more than his diagnosis. He is funny, loving, and determined, and he deserves the same chances to learn, play, and be included as every other child.

Thank you, Remy and family, for sharing your story with our community. 💛

Meet Maiken 💛Maiken is 2½ years old and loves music and playing with balls.At just three months old, she developed infan...
09/13/2026

Meet Maiken 💛
Maiken is 2½ years old and loves music and playing with balls.
At just three months old, she developed infantile spasms. After trying several medications, a ketogenic diet helped control her seizures—and today, Maiken is seizure-free.

In November 2024, her family finally received an answer: TUBB2A-related disorder.

Her mom, Malin, shared how meaningful it was to connect with other TUBB2A families after diagnosis—to share experiences and know they weren’t navigating this alone.

Thank you, Malin and Maiken, for sharing your story with our community. 💛

This is what building a rare disease movement looks like. 🧬We’re incredibly grateful for the people bringing their exper...
09/10/2026

This is what building a rare disease movement looks like. 🧬

We’re incredibly grateful for the people bringing their expertise, curiosity, and commitment to the National Tubulinopathy Congress—and helping create something that no single family, foundation, clinician, or researcher could build alone.

Dr. Deborah Fidler, Dr. Jeffrey Moore, and Dr. Jayne Aiken represent exactly the kind of multidisciplinary collaboration our community needs: bringing together human development, developmental biology, biomedical science, and—most importantly—a shared commitment to families affected by tubulinopathies.

For TUBB2A and the broader tubulinopathy community, progress will come from connecting disciplines, sharing knowledge, and building the infrastructure for discovery together.

We’re proud to be part of what’s taking shape. 💛

One community. Many genes. Shared momentum.

We’re proud to share that the TUBB2A Foundation will be represented at the NCCGC Conference on October 16, where our fou...
09/10/2026

We’re proud to share that the TUBB2A Foundation will be represented at the NCCGC Conference on October 16, where our founder, Jennifer Gehring, will join Rozalia Valentine to open the agenda with:

From Diagnosis to Movement: The TUBB2A Foundation and the Genetic Counselor’s Role in Ultra-Rare Disease Advocacy

A diagnosis can give a rare disease a name. But a name alone doesn’t create a roadmap.

Together, we’ll explore what can happen next—when families organize, genetic counselors help bridge critical gaps, researchers and clinicians become partners, and an ultra-rare diagnosis becomes the catalyst for community, advocacy, and scientific progress.

For TUBB2A, that journey is already underway.

We’re honored to bring our community’s story to this conversation and to highlight the powerful role genetic counselors can play in helping families move from diagnosis to connection, from connection to action, and from action to progress.

🧬 Accelerating science. Supporting families. Building what comes next #

New to the Tubulinopathy journey? You are not alone. ...
09/04/2026

New to the Tubulinopathy journey? You are not alone.

Join us for Talking Tubulinopathy, a unique webinar featuring families who will share their experiences, lessons learned, and hopes for the future.

💬 Listen to real-life stories from families living with Tubulinopathies.
🧠 Discover perspectives and strategies for navigating challenges and celebrating successes.
🤝 Build connections with others who understand your experience.
❓ Bring your questions and hear answers shaped by lived experience.

Together, we can learn from one another and strengthen our community.

Register now for Talking Tubulinopathy to create connections and build community!

📅 October 14, 2026
🕘 6:30PM PST
💻 Virtual | Open to all
🎟️ Registration is OPEN!

Thrilled to be partnering with Penn Medicine and Chop who's studying A248V, D417N, and E194K variants! Connor and I are ...
09/04/2026

Thrilled to be partnering with Penn Medicine and Chop who's studying A248V, D417N, and E194K variants! Connor and I are so excited to go to Chop to provide samples for their research study.

💙 Meet Logan.💙 He's full of love and mischief — non-verbal, but he communicates through smiles, laughter, and how he lig...
08/15/2026

💙 Meet Logan.

💙 He's full of love and mischief — non-verbal, but he communicates through smiles, laughter, and how he lights up around music and people.

💙 He's never walked, but he self-propels his wheelchair everywhere, usually on a mission to find cake.

This is TUBB2A — different for every family, but the love is always the same.

✨ Excited to help launch the National Tubulinopathy Congress!This initiative brings together families, advocates, clinic...
08/07/2026

✨ Excited to help launch the National Tubulinopathy Congress!

This initiative brings together families, advocates, clinicians, and researchers to advance research, improve care, and accelerate progress for everyone affected by Tubulinopathies.

We’re building a community where collaboration leads to better outcomes—and we’re just getting started.

💙 Follow the page for updates on research, advocacy, community events, and opportunities to get involved.
https://www.instagram.com/nationaltubulinopathycongress?igsh=c3dmZXltbGZzMHJ2

Together, we can move science and hope forward.

🎉 We’re live!Our new home is officially open at www.TUBB2AFoundation.org.Built for families. Designed to connect our com...
07/10/2026

🎉 We’re live!

Our new home is officially open at www.TUBB2AFoundation.org.

Built for families. Designed to connect our community. Created to help accelerate research and awareness for TUBB2A.

A heartfelt thank you to Black Forge Media, especially Jeremy Juli, for bringing our vision to life. We couldn’t be happier with the result. Check them out! https://www.blackforgemedia.org/

💙 Visit the site and let us know what you think!

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73 Turnpike Street #1172
North Andover, MA
01845

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