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]
- 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:
- Proteus Syndrome Illustration
- Joseph Merrick Photos [db2.photoresearchers.com]
- Information for Patients and Families:
- Proteus Syndrome Foundation [proteus-syndrome.org]
- Proteus Syndrome Foundation UK [proteus-syndrome.org.uk]
Last Updated: July 28, 2011
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Jeannette Villalobos (October 25, 2011, 23:25)
I know a child with this condition. I am very happy about this good news!! -
wendy (October 14, 2011, 09:16)
I have a child, her name is Tori. She is 9 yrs old. She has proteus syndrome. I am so happy to hear about the cure. -
ED H (August 26, 2011, 07:38)
Being in the health care business since 1980, topics like this are always of interest to me. Slowly, insurers are starting to add benefits that help for these expenses. The trend should continue. -
John en Christel (August 21, 2011, 15:42)
We have a son called Ivo. He is 21 years old, and has a combination Proteus syndrome with Tubereuze Sclerosis. Very nice to hear that they finally found the Proteus gene. Much greetings from Holland -
Jacqui Wan (July 28, 2011, 18:52)
This is a very emotional time for all Proteus Syndrome Foundation families. My brother, Matthew Baines, had Proteus Syndrome and passed away in 1999 at the age of 25. This news is both happy and sad for us. Just today a friend remarked that Matthew was the most kindest and charming person she had ever met. I want to thank the whole team for your hard work and determination in getting to this historical moment! Baines family. Australia.
What a gift Joseph Merrick gave us through his short life! He not only affected the culture of his age by demonstrating that a person's outward appearance has nothing to do with his inner person but he also brought attention to a rare disorder that has now been traced to its origin. Bravo to the scientists and medical researchers who have accomplished this. Bravo to the children and adults who live with it and those nearest to them. Their courage and fortitude are incredible! Hopefully, a prevention and cure are soon to follow this new discovery.