The cause has been found – What are your thoughts?

After 15 years of research Dr. Biesecker’s research project had a major break through and discovered the cause of Proteus syndrome. AKT1.

I am so happy that the Proteus Syndrome Foundation can be a part of this discovery. For 15 years we have sent our families to Dr. Biesecker’s research project to be evaluated, diagnosed and sometimes ¬†enrolled in the NIH protocol for Proteus. They followed our PS kids for years working with individual doctors to help the kids do well.

The PSF was able to grant Dr. Biesecker’s project $50,000 in 2010 which he used in this latest attempt to find the cause. This was due to intense fundraising and generous donations.

To make things even more remarkable AKT1 can be linked to various cancers; such as breast cancer which means that companies are already interested in finding something to stop the AKT1 gene.

There is still lots of work to be done and the PSF will continue to support Dr. Biesecker and his research until a way to stop Proteus syndrome is found.

Tonight I had to change the Proteus Syndrome Foundations Mission Statement. I had to delete the part where we are searching for the cause! That felt good!!


Aug 01, 2011 | Category: Blog | Comments: 6


6 Responses to “The cause has been found – What are your thoughts?”

  1. This is a wonderful development, indeed! We are all so grateful to Dr. Biesecker and his devoted team for the past 15 years. A nice problem to have now….repriting our materials removing “finding the cause of”

    I can see help, for those who need it most, in our lifetime!


  2. Dr Biesecker has lived for the last 15 years as though he he had a child with PS. He loves the children, and adults too ,that suffer with PS. I am so proud of him and his determination to find the gene that caused Proteus syndrome.

    Now he has. Good job Dr Biesecker. Future generations are forever changed because of him.

    I ,and many others, have always prayed for a break through in the research of Proteus syndrome. And I asked God for the break through ro come through Dr Biesecker’s work.

    God answered our prayers.


  3. I’m a pediatric occupational therapist who had a client with Proteus Syndrome (she’s still around but I no longer work at that therapy site). I’m VERY happy the cause has been found and I look forward to the cure !!
    I also happen to be a breast cancer survivor but don’t know if the AKT1 gene was associated with my particular cancer. If it might help, even in the slightest way, that those with breast cancer undergo testing to help with PS research, please make it known to the BC community! (ie. the Susan Komen group,, etc.).

    • To the previous writer…breast cancer survivor, YAY…that is an interesting thought. Will pass along to Dr. Biesecker at our upcoming family and physician conference. Thanks and stay tuned!

  4. argelia larrondo says:

    Gracias a Dios y al gran esfuerzo de la fundacion y sobre todode la dedicacion del Dr. Bieseker se ha encontrado la causa del PS aunque mi Andrea yano esta fisicamente con nosotros se que en donde se encuentre estara feliz por este descubrimiento.
    En horabuena y en espera de que pronto se encuentre la cura.

  5. I am looking for a teen support group or teen connection for a 17 yo young man with PS….any ideas? Thank you

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