Proteus Syndrome Foundation

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  • PSF Home
  • 2022 Conference Presentations
  • About Us
    • Who We Are
    • Board of Directors
    • Medical Advisory Board
    • Partners
  • Published Papers
  • Patients & Families
    • About Proteus Syndrome
    • Clinical Trials
    • Genetic Testing
    • Resources
      • Videos
      • Documentary
      • Glossary
    • Covid 19 and Proteus Syndrome
  • Researchers & Physicians
    • Proteus 101
    • Clinical Trials & Research Pipeline
    • Genetic Testing
    • Resources
  • Ways to Help
    • Donate
    • Fundraise
    • Family Assistance Program
    • The Jackie Johnson Sparkle Grant
  • Contact Us
  • Subscribe

Genetic Testing

Since it has been confirmed that a mutation to the AKT1 gene causes Proteus syndrome, it is now possible for physicians to confirm the diagnosis through genetic testing. In addition to helping physicians better determine a course of treatment, a demonstrated mutation in the AKT1 gene is required for patients to be eligible to participate in ArQule’s clinical trial of miransertib for the treatment of Proteus syndrome. Physicians should encourage patients to be genetically tested. 
 
For more details on how to access genetic testing for the AKT1 gene, please email Kim Green. 

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The Proteus Syndrome Foundation, a 501c3 not-for-profit organization, is dedicated improving the lives of Proteus patients by funding AKT1 research. We focus on providing family support in the form of education and networking individuals living with Proteus syndrome with other families and medical professionals.

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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
  • 2022 Conference Presentations
  • About Us
    • Who We Are
    • Board of Directors
    • Medical Advisory Board
    • Partners
  • Published Papers
  • Patients & Families
    • About Proteus Syndrome
    • Clinical Trials
    • Genetic Testing
    • Resources
      • Videos
      • Documentary
      • Glossary
    • Covid 19 and Proteus Syndrome
  • Researchers & Physicians
    • Proteus 101
    • Clinical Trials & Research Pipeline
    • Genetic Testing
    • Resources
  • Ways to Help
    • Donate
    • Fundraise
    • Family Assistance Program
    • The Jackie Johnson Sparkle Grant
  • Contact Us
  • Subscribe