The SHANK1 Foundation is for individuals and families affected by SHANK1 neurodevelopmental conditions. Our goal is to help families find each other, share useful information, raise awareness, and support research that can improve lives.

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The SHANK1 community Families, researchers, clinicians, and advocates connected around SHANK1. Families Researchers Clinicians Advocates SHANK1 Community

About the gene

What is the SHANK1 gene?

SHANK1 is a gene on chromosome 19. It helps make a protein that plays an important role at synapses, the places where brain cells communicate with each other.

Changes in SHANK1, including deletions and loss-of-function variants, have been reported in people with autism and other neurodevelopmental differences.

Features reported in SHANK1-related conditions may include

  • Autism or autistic traits
  • Developmental delay or learning differences
  • Speech and language delay
  • Attention, behavior, or anxiety concerns
  • Motor, coordination, or daily living challenges
  • Wide variation from person to person

This site is for education only and is not medical advice. Families should review genetic results with a geneticist or genetic counselor.

Join the family list

Have a SHANK1 diagnosis in your family?

SHANK1-related conditions are rare, and many families receive a diagnosis without clear SHANK1-specific guidance. The SHANK1 Foundation is building a family contact list so we can help families find each other, share updates, and support future research.

Parents, caregivers, affected individuals, clinicians, researchers, and family members are welcome to contact us.

Join the SHANK1 Family List

This is not a medical registry and does not provide medical advice. We will only use your information to contact you about SHANK1 Foundation updates, community opportunities, and future research-related efforts.

Community

Connect with other SHANK1 families

Subscribe to Brian's SHANK1 Newsletter. Connect with other parents and patients via the Facebook group SHANK1 neurodevelopmental disorder (unaffiliated).

Our mission

To improve life for people affected by SHANK1-related neurodevelopmental conditions by building community, supporting research, and helping move the field toward meaningful treatments.

The problem

  • SHANK1-related conditions are rare and not well recognized.
  • Important clinical information is scattered across families, clinics, and research groups.
  • Families often receive a diagnosis without clear SHANK1-specific guidance.
  • Research moves faster when families are connected and information is organized.

About us

The SHANK1 Foundation aims to become a central place for families, caregivers, clinicians, researchers, and partners who want to better understand SHANK1.

Co-founders

Brian Bell

President

Brian Bell is a nurse practitioner whose son has a pathogenic SHANK1 mutation.

He also has a technical and analytical background, including previous experience as a software engineer and a master’s degree in computer science.

brian@shank1.org
LinkedIn profile

Jayson Durham

Secretary & Treasurer

Jayson Durham brings a broad research background to the SHANK1 Foundation.

His research has included computational biology, neonatal clinical research, rehabilitation, healthcare terminology, neural networks, autonomous systems, and command-and-control technology. Representative publications include work on TOGA gene-expression parsing technology, intact-cord neonatal resuscitation, early caffeine use in extremely premature infants, gait retraining for diabetic peripheral neuropathy, and enterprise terminology tools.

jayson@shank1.org
Google Scholar profile

Research

Research priorities

1

Natural history

Describe development, behavior, medical needs, and day-to-day function over time.

2

Variant interpretation

Help families and clinicians understand pathogenic, likely pathogenic, VUS, inherited, and de novo SHANK1 findings.

3

Model systems

Support cell and animal models that help explain how SHANK1 variants affect the brain.

4

Treatment readiness

Identify useful outcomes, biomarkers, and study tools before future treatment trials begin.

News and events

Brian's SHANK1 Newsletter

Subscribe for updates, SHANK1 news, and community notes on Brian's SHANK1 Newsletter.