Tubb2a Foundation

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 mu

scle 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

💙 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!

💛 Rare conditions need more than awareness. They need action.A donation to the TUBB2A Foundation helps us connect famili...
06/28/2026

💛 Rare conditions need more than awareness. They need action.

A donation to the TUBB2A Foundation helps us connect families, build research infrastructure, collect meaningful data, and move closer to better care and future treatments.

Even a small gift can help create a bigger future for our ultra-rare community.

Donate. Share. Help us advance hope.

The science around TUBB2A is still growing.ClinVar currently includes 98 different TUBB2A variants reported as pathogeni...
06/28/2026

The science around TUBB2A is still growing.

ClinVar currently includes 98 different TUBB2A variants reported as pathogenic or likely pathogenic, along with 136 more listed as variants of uncertain significance. These numbers help show two important things: we are learning more, and there is still significant work ahead.

For families, variant interpretation is not just a technical detail. It can shape diagnosis, care planning, access to support, and eligibility for future research.

Awareness helps families find one another. Research helps the field move from uncertainty toward understanding.

💛 Meet Lily, 22 years old and happiest when she is surrounded by people.💙 She is incredibly social—and pretending to sne...
06/28/2026

💛 Meet Lily, 22 years old and happiest when she is surrounded by people.

💙 She is incredibly social—and pretending to sneeze is almost guaranteed to make her laugh.
💙 She needs support when walking and communicates beyond spoken words, but her happiness is unmistakable.
💙 Her dad says choosing a supportive group home was incredibly difficult, but it allowed Lily to thrive and gave him space to focus on being her dad.

ClinVar is a public genetics resource where laboratories and other submitters share variant interpretations. Based on th...
06/27/2026

ClinVar is a public genetics resource where laboratories and other submitters share variant interpretations. Based on the current ClinVar review shared by our genetic counselor, there are 98 different TUBB2A variants reported as pathogenic or likely pathogenic, and 136 more listed as variants of uncertain significance.

That means the science is growing — and there is still more work to do.

A TUBB2A diagnosis may be found through exome sequencing, genome sequencing, or a gene panel.For families who have spent...
06/24/2026

A TUBB2A diagnosis may be found through exome sequencing, genome sequencing, or a gene panel.

For families who have spent years searching, a diagnosis can bring language, connection, and a path toward better understanding.

💛 Meet Mana and Tony’s 3-year-old daughter, whose bright smile, hearty laugh, and curiosity light up every day.💙 She lov...
06/22/2026

💛 Meet Mana and Tony’s 3-year-old daughter, whose bright smile, hearty laugh, and curiosity light up every day.

💙 She loves walking outside, exploring her surroundings, and watching what everyone around her is doing.
💙 She communicates through eye contact, gestures, expressions, and a wonderful range of sounds.
💙 Her family focuses on staying informed, advocating for her needs, and celebrating every milestone - big or small.

Many tubulinopathy diagnoses are caused by a de novo genetic change, meaning the variant is new in the child and was not...
06/22/2026

Many tubulinopathy diagnoses are caused by a de novo genetic change, meaning the variant is new in the child and was not inherited from either parent.

Genetic counseling can help families understand recurrence risk, parental testing, and what the diagnosis may mean for future planning.

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73 Turnpike Street #1172
North Andover, MA
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