2011

January 13, 2011
Interesting Gains in Treatment for Macular Degeneration
Three very interesting steps forward have presented themselves recently in the treatment of macular degeneration.

February 1, 2011
Genetic Alliance Registry and BioBank: a novel disease advocacy-driven research solution
Based on the PXE International Registry and BioBank model, six disease advocacy organizations established in 2003 the Genetic Alliance Registry and BioBanks (GARB), a cross-disease, infinitely expandable registry and biorepository.

February 9, 2011
Power to the People: Participant Ownership of Clinical Trial Data
The time is ripe for individuals to become active participants in clinical trials, to create a movement to build the commons with such data, and to actively share them.

February 17, 2011
Ethnicity-based Mutation Detection Strategy
This study attempts to correlate recurring mutations with ethnic origin.

March 18, 2011
New genetic vascular calcification disease may have some similarity to pseudoxanthoma elasticum (PXE)
NIH has identified a new rare disease that causes arterial calcification, called ACDC.  According to a paper published in February 2011, the arterial mineralization caused by ACDC may be similar to pseudoxanthoma elasticum.

April 1, 2011
Interview with András Váradi, Hungarian PXE Researcher
András Váradi, PhD is one of PXE International’s great supporters and a leading researcher in this field. He has attended PXE International Research Meetings as well as Patient Meetings. PXE International recently awarded his team a $50,000 grant so that they can continue their important research into pseudoxanthoma elasticum.

April 20, 2011
International Rare Disease Research Consortium (IRDiRC) Sets Goals for 2020
From April 6-8, 2011, Investigators from Europe and America met in Bethesda, Maryland for the second meeting of the International Rare Disease Research Consortium (IRDiRC). The purpose of the meeting was to discuss the causes of over 7,000 rare disorders and lay out future collaborations that could produce treatments for about 200 of those disorders by 2020.

April 28, 2011
Vitamin K Does Not Prevent Mineralization in the PXE Mouse
PXE researchers have been trying to identify the substance, called a substrate, that is not present in the circulation, which could prevent mineralization in pseudoxanthoma elasticum. Results of recent research suggest that administration of vitamin K does not appear to affect mineralization in PXE KO mice.

June 17, 2011
Pseudoxanthoma Elasticum: Progress in Diagnostics and Research Towards Treatment Summary of the 2010 PXE International Research Meeting

August 1, 2011
Interview with Olivier Vanakker, Belgian PXE Researcher
Olivier Vanakker MD, PhD is a pediatrician and clinical geneticist affiliated with the Connective Tissue Disorders team and the Dysmophology team of the Center for Medical Genetics of the Ghent University Hospital, Belgium.