Proteus Syndrome Foundation

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  • PSF Home
  • About Us
    • Who We Are
  • 2025 Camp Photos
  • 2025 Swing Fore Sunshine Photos
  • Patients & Families
    • About Proteus Syndrome
    • Clinical Trials
    • Genetic Testing
    • Videos
    • 2024 Conference Presentations
    • Glossary
    • PSF Patient Registry
  • Researchers & Physicians
    • Proteus 101
    • Clinical Trials & Research Pipeline
    • Genetic Testing
    • Resources
  • Ways to Help
    • Donate
    • The Jackie Johnson Sparkle Grant
  • Contact Us
  • Subscribe

Genetic Testing

Since the discovery that a mutation in the AKT1 gene causes Proteus, patients and families have the option to unergo genetic testing to confirm the diagnosis. A huge benefit to having genetic testing is that it can now help both doctors and patients to be sure that people are managed correctly and that the diagnosis is correct. 
Genetic Testing may be available too test for the AKT1 mutation. Please email Kim Green for further information. 

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The Proteus Syndrome Foundation is a patient-led, global nonprofit dedicated to improving and extending the lives of individuals affected by Proteus syndrome. We accelerate progress toward effective treatments by funding AKT1 research, while directly supporting patients and families through education, community connection, and critical assistance programs. Through initiatives such as family conferences, summer camp, global peer networks, and medical support grants, we ensure that no family faces Proteus syndrome alone, and that every patient has access to the care, resources, and community they need to live fully.

​Website Design by Timberline Webworks
Alex Hoag
In Loving Memory of
Alexander Hoag
7/5/90 - 9/20/99
"He did a lot in 9 short years."
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  • PSF Home
  • About Us
    • Who We Are
  • 2025 Camp Photos
  • 2025 Swing Fore Sunshine Photos
  • Patients & Families
    • About Proteus Syndrome
    • Clinical Trials
    • Genetic Testing
    • Videos
    • 2024 Conference Presentations
    • Glossary
    • PSF Patient Registry
  • Researchers & Physicians
    • Proteus 101
    • Clinical Trials & Research Pipeline
    • Genetic Testing
    • Resources
  • Ways to Help
    • Donate
    • The Jackie Johnson Sparkle Grant
  • Contact Us
  • Subscribe