TRIP12 Foundation — Clark-Baraitser Syndrome

Advancing research for a rare genetic condition that deserves answers.

Clark-Baraitser Syndrome is caused by mutations in the TRIP12 gene. We exist to fund research, support affected families, and accelerate the path toward treatment.

Support Our Mission Learn About TRIP12
~100
Known Pathogenic Variants
2q36
Chromosome Location
Rare
Autosomal Dominant
About the Condition

What is Clark-Baraitser Syndrome?

Clark-Baraitser Syndrome (CLABARS) is a rare autosomal dominant condition caused by mutations in the TRIP12 gene — a critical regulator of protein degradation in the body.

⬡ TRIP12 — Chromosome 2q36

How it happens

TRIP12 encodes an E3 ubiquitin ligase, an enzyme essential for marking proteins for breakdown. Pathogenic variants — including nonsense mutations, frameshift deletions, and large intragenic deletions — cause haploinsufficiency, meaning one copy of the gene doesn't produce enough functional protein.

Inheritance

Most cases arise as de novo mutations, meaning they occur spontaneously and are not inherited from parents. The condition affects males and females equally.

Diagnosis

Diagnosis is confirmed through whole-exome or genome sequencing. DNA methylation episignature analysis has recently emerged as a powerful complementary tool, particularly for variants of uncertain significance (VUS).

Common Features

Presentation varies widely. Not every individual will have every feature listed below.

  • Intellectual disability
  • Speech delay
  • Motor delays
  • Autism-like behaviors
  • Macrocephaly
  • Broad forehead
  • Prominent brow ridge
  • Large ears
  • Obesity
  • Aggressive tantrums
  • Tall stature (some)
  • Behavioral challenges

Current treatment

There is currently no targeted treatment for Clark-Baraitser Syndrome. Care is supportive — addressing individual symptoms through therapies, educational supports, and behavioral interventions. Research into potential future therapies, including ASO (antisense oligonucleotide) approaches, is an area of scientific interest.

Our Story

Why we started this foundation

Our journey began the way so many rare disease journeys do — with a diagnosis that arrived after years of questions, evaluations, and uncertainty. When we finally had a name — Clark-Baraitser Syndrome, TRIP12 — it was both a relief and a beginning.

We quickly discovered how little was known. A handful of published case studies. A small, scattered community of families around the world navigating the same unknowns. No patient registry. No dedicated research funding. No one building toward answers.

"We couldn't wait for someone else to act. So we decided to become the foundation we wished had existed when we first got the diagnosis."

The TRIP12 Foundation was founded by parents who understand what this diagnosis means — not just medically, but for every moment of daily life. We believe that research moves faster when families, scientists, and clinicians are connected around a shared mission.

Our child gives us extraordinary purpose every single day. This foundation is our commitment to every family that comes after us — that they will have more information, more support, and more hope than we did.

Research & Science

Funding the science that matters

Every dollar raised goes toward closing critical knowledge gaps about TRIP12 — from understanding disease mechanisms to exploring future therapeutic directions.

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Natural History Studies

We support efforts to systematically document how Clark-Baraitser Syndrome presents and progresses across the lifespan — essential groundwork for any future clinical trial.

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Variant Classification

Many TRIP12 variants are currently classified as "uncertain significance." We fund research — including episignature analysis — to reclassify VUS findings and give families diagnostic clarity.

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Therapeutic Pathways

TRIP12 haploinsufficiency may be amenable to upregulation strategies, including ASO therapy. We support early-stage investigation into these approaches at the research level.

Patient Registry: A searchable registry is a critical first step for any rare disease research program. We are actively working to establish a TRIP12 patient registry through established rare disease platforms including Simons Searchlight. If your family has a confirmed TRIP12/Clark-Baraitser diagnosis, please contact us — your participation directly advances research.
How to Help

Every contribution moves the science forward

There are several ways to support the TRIP12 Foundation's mission — from financial donations to connecting us with your network.

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Make a Donation

Your tax-deductible gift directly funds research grants, patient registry development, and family support programs.

Donate Now
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Spread Awareness

Share our story. The more families who know about this foundation, the stronger our patient registry becomes — and registries drive research.

Share Our Mission
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Partner With Us

Researchers, clinicians, and organizations working in rare neurogenetic disease — we want to connect. Let's build something together.

Get in Touch
Resources for Families

You are not navigating this alone

A curated list of registries, databases, and support organizations relevant to TRIP12 and Clark-Baraitser Syndrome.

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Simons Searchlight

Patient registry platform for rare genetic neurodevelopmental conditions. Actively enrolling TRIP12 families.
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OMIM #617752

Official entry for Clark-Baraitser Syndrome in the Online Mendelian Inheritance in Man database.
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TRIP12 Gene Entry (NCBI)

Comprehensive gene-level information, known variants, and associated literature.
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NORD — Rare Disease Database

National Organization for Rare Disorders. Patient advocacy and disease information hub.
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Global Genes

Rare disease advocacy organization with toolkits for newly diagnosed families.
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Human Disease Genes — TRIP12

Curated clinical and variant data for TRIP12-associated conditions.
Contact Us

Get in touch

Whether you're a family with a new diagnosis, a researcher studying TRIP12, or someone who wants to help — we want to hear from you.

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info@trip12foundation.org
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trip12foundation.org

Newly diagnosed? Please reach out directly. We know how isolating a rare disease diagnosis can feel, especially in the early days. We're here to help you find your footing.