April 2012 eNewsletter
April 30, 2012
Volume 5, No. 3
Building Tomorrow Together!
PXE International Biennial Conference, September 22-23, 2012
Join PXEers, their families, healthcare providers and researchers in a fabulous experience! PXE International’s 2012 Biennial Conference will be held September 22-23, 2012 at the Bethesda North Marriott in Bethesda, MD. This exciting weekend provides the opportunity to connect with other PXEers face to face – an invaluable experience. Four back-to-back sessions on Saturday morning get us all on the same page, while breakout sessions offer time for in-depth discussion. One-on-one personal consultations with experts in fitness, low vision and vascular issues are offered throughout the weekend!
PXE International staff shares their favorite thing about the conference – Watch the video!
Registration now open at Early Bird prices – Register here!
European PXE Meeting, May 3, 2012
The Netherlands Cancer Institute
There is still time to register for the free PXE informational meeting, sponsored by The Netherlands Cancer Institute [NKI] and PXE International! Hear a clinical overview of pseudoxanthoma elasticum, learn about eye manifestations and treatment, discover what a substrate is and why PXE researchers are looking for it. There will be plenty of time for questions.
Date and Time: Thursday, May 3, 2012, 7:00 PM
Location: Room Z4, The Netherlands Cancer Institute [NKI]
Pat and Sharon Terry attended the ABC Proteins meeting in Innsbruck, Austria March 3-9, 2012. The sessions were enlightening, describing this family of genes and their proteins. It was remarkable to hear of the shift toward translational science and clinical research over the past two years, since the last meeting in 2010. This means the science is maturing and starting to apply to human diseases. The Terrys met with many scientists over the six days. During the meeting, together with the Netherlands laboratory of Dr. Piet Borst, they determined that a European meeting was in order and decided to hold it May 3, 2012 in Amsterdam. This close proximity to the Borst lab will allow the collection of blood for plasma and DNA experiments. Anyone interested in attending the meeting should register here.
Rare Disease Day
February 29, 2012 marked the fifth global Rare Disease Day filled with awareness-raising activities around the world converging around this year’s theme, “Rare But Strong Together”. This focus on solidarity within the rare disease community emphasized the need for continued collaboration and mutual support across diseases, organizations, and the world. Kemi Sobowale, research intern at PXE International, attended the National Institutes of Health’s day-long Rare Disease Day symposium titled, “Patients and Researchers, Partners for Life!,” a celebration and recognition of the various rare disease research activities supported by the NIH Office of Rare Diseases Research, the NIH Clinical Center, and other NIH Institutes and Centers; the FDA’s Office of Orphan Product Development; the National Organization for Rare Disorders; and the Genetic Alliance. The symposium brought together the rare disease community to discuss new technologies, new research paradigms, and new rare diseases. The collaboration and support of the rare disease community was evident throughout the event.
Did You Miss It?
PXE in the Wall Street Journal
Citizen Scientists - A growing movement to unlock medical secrets by empowering patients to gather, control and even analyze their own health data. Read the WSJ article.