eNews October 2011

October 31, 2011
Volume 4, No. 7

Rescue of ABCC6 Disease-Causing Mutations in Mouse Liver

In a very complex experiment, a team of PXE researchers led by Dr. Váradi and Dr. Le Saux were able to rescue some function in an ABCC6 gene with disease-causing mutations in a live mouse liver. This news is very exciting and may have some application to a future therapy for PXE in humans

Read a lay summary here.

Free PubMed Central article.
 

A Note to New PXEers, by Pat Manson

A veteran PXEer reflects on how much medical innovations have improved the lives of all PXEers, but particularly those of newly diagnosed PXEers. A Note to New PXEers.

More PXE Vision Columns.

 iPhone4S, Snoop Dogg, and an 85-pound Rutabaga

"Thanks to Apple, I'm about to become best friends with Siri. Meanwhile, I'm chasing a story about Snoop Dogg's obsession with a history-making vegetable."

Read Jessica's article.
 

Submit Your Creative Work

PXE and Art is our continuing effort to showcase those who have turned disability into something beautiful. Whether you take photographs, write poetry, create jewelry, or play music, we would like to provide you a space on our website to showcase your artistic endeavors.

Please click here to learn how to submit your work.
 

World Class Researchers Await -
Please participate in the PXE International Epidemiological Study

Thank you to all PXEers who have completed the online PXE survey! We appreciate the time you have given to this study. If you have requested a questionnaire but never received your logon information, or have forgotten your logon information, please email Terry Mac Dermaid at tmacdermaid@pxe.org and she will send you a reminder.

To all other PXEers - We need all of you to participate. This is a simple online survey of your signs, symptoms and experience of living with PXE. One day you might need a treatment or solution for some aspect of PXE, and we need your help getting there. We have world-class researchers waiting to study this de-identified data.

Register to complete a survey by clicking "I am interested in participating!"

Questions? Email Clarissa Sellers at csellers@pxe.org. Or call the PXE International office at 202.362.9599, extension 0.

To learn more, visit:
http://pxe.org/epidemiological-study