Proteus Syndrome Announcement

Proteus Syndrome Announcement

Background materials are available, below, for the announcement of the discovery of the mutation that causes Proteus Syndrome.  The findings are published in the July 27, 2011 early online edition of The New England Journal of Medicine.

Background Materials

• Proteus Syndrome Telebriefing
   
• Proteus Syndrome Telebriefing [MP3 - 8.5 MB]
  • Transcript for the Proteus Syndrome Telebriefing
     
• News Release: NIH researchers identify gene variant in Proteus syndrome
   
• Proteus Syndrome B-Roll Video Footage and Video Sound Bites
   
• A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome [nejm.org]
   
• Editorial: Hamartoma Syndromes, Exome Sequencing, and a Protean Puzzle [nejm.org]
   
• Spokespeople for the Proteus Syndrome Telebriefing
   
• Proteus Syndrome Backgrounder
   
• Proteus Syndrome FAQ
   
• Joseph Merrick Biography
   
• Images:
  • Patients with Proteus Syndrome:
    • Jordan, 16
    • Abby, 13
    • Dylan, 12
    • Sebastian
  • Proteus Syndrome Illustration
  • Joseph Merrick Photos [images.sciencesource.com]
     
• Information for Patients and Families:
  • Proteus Syndrome Foundation [proteus-syndrome.org]
  • Proteus Syndrome Foundation UK [proteus-syndrome.org.uk]