eNews March 2014


PXE LogoE-NEWSLETTER
March 11, 2014
Volume 7, No. 2



 



The AREDS2 trial:
What it means for macular degeneration, and PXE

by Samar Rizvi, Research Coordinator, PXE International, and
Katherine Lambertson, Research Intern, PXE International

Recommended by the 2001 Age-Related Eye Disease Study (AREDS), AREDS vitamin supplements are often taken as a preventative treatment for both AMD and retinal symptoms of PXE. New interests and concerns prompted researchers from the National Eye Institute to launch the AREDS2 study in 2006. Their results were published in 2013.

Read the full article.

 

The DMV vs. France, by Jessica Harper
The DMV vs. France
by Jessica Harper

"In which I am reassured that, per their reputation, employees of the DMV are maintaining the highest standards of irritability..."

Read The DMV vs. France

 


Social Gathering for New England PXEers May 31, 2014
RSVP by March 17

A social gathering for New England PXEers will be held Saturday, May 31, 2014, from 11:30 am to 3:30 pm (this is not Memorial Weekend!). Come and enjoy a great Italian buffet (~ $20). This is a chance to meet fellow PXEers that may live very close to you. Share your ideas on what makes your life easier, career ideas, challenges, successes, gadgets and whatever else you would like to share!

Kindly respond by Monday, March 17, if you will attend. Carpooling help available. Email Terry Mac Dermaid

 


PXE International to be part of the National Patient-Centered Clinical Research Network through Genetic Alliance and PCORI
Give people a path to participate in biomedical research, and they will accelerate solutions

In a December 2013 press release, Genetic Alliance announced that "a team led by Genetic Alliance has been approved for a funding award by the Patient-Centered Outcomes Research Institute (PCORI) to develop and expand a health data network that will be part of PCORnet: the National Patient-Centered Clinical Research Network. Community-Engaged Network for All (CENA) is one of 29 networks approved to form this new national resource that aims to boost the efficiency of health research."

PCORnet logoPXE International and nine other disease advocacy organizations (DAOs), supporting conditions from rare to common and covering a broad demographic, were competitively selected by Genetic Alliance to take part in the pilot of CENA. CENA will use Genetic Alliance's award-winning Platform for Engaging Everyone Responsibly (PEER), developed in partnership wtih Private Access, to launch and/or upgrade online registries for each condition. PEER uses a flexible, gamified survey interface to present questions designed to maximize participant engagement through immediate feeback.

Watch for an opportunity to participate!

 


Genetics Meets Public Health

Genetic Alliance's newest website, GenesInLife.org, puts information about genetics into context for individuals and families with a focus on genetic services and family health history. In addition to accessible content and resources, Genes in Life hosts Spotlights on different topics in genetics and health every two to three months. In March, GenesInLife.org will be covering the ways genetics and genomics connects to public health with a spotlight on screening through the life course. You may be familiar with newborn screening, but screening for genetic conditions is important at all stages of life! Public health screening can help catch conditions early on and keep your family healthy.

Genes In Life logo Visit the GenesInLife blog through the end of March to hear more on newborn, pediatric and cascade screening in turn. Post your screening questions to our featured experts, and receive a response via email and on the FAQ page. The current experts are focused on public health genomics, but you can ask any questions you have related to genetics and health, and Genes In Life will help find an answer through their network of partners and professionals. Be sure to follow @GenesInLife to stay up to date on the latest screening news and website updates throughout the spotlight!

 


Andy Cremer
Andy Cremer shares his PXE story
for Rare Disease Day 2014

"I generally feel lucky that my PXE was discovered so that I can manage it, but having a rare disease is tremendously isolating at times, which is why I am supporting Rare Disease Day."

Read Andy's story.

 


To all PXE Magnesium Supplement Clinical Trial participants -
Let your voice be heard!

By now, the participants in the PXE Magnesium Supplement Clinical Trial have either crossed over or are approaching their one-year anniversary in the trial -  congratulations participants!! This clinical trial is a historic event, and PXE International is eager to hear about your experience, as is the entire PXE community! Why did you volunteer? What were your expectations? What has been the hardest or easiest part?

We have an opportunity for you - Let your voice be heard by writing about your experience in the trial thus far for publication in a future issue of the PXE International eNewsletter and on pxe.org. It can be short or long, creative or straight-forward. How about a photo essay! Whatever it is, it is your story and we want to hear it!

Please email Terry Mac Dermaid or call (202-362-9599), extension 222) to let her know you are interested.