PXE eNewsletter January 2016

Thank you for an Amazing Year!

2015 has been filled with great achievements and a good bit of excitement for the future. PXE International is thankful to all of you for your generosity through your contributions. We are so grateful to board member Jessica Harper and her husband Tom Rothman, as well as board member JoeMaas and his wife Robin for their matching donation challenges. And, this past year PXE International received two grants, one from Yardi Systems and the other from the Eugene Washington PCORI Engagement Award from the Patient CenteredOutcomes Research Institute (PCORI). Read on to find ways to become involved in PXE International!

Eugene Washington PCORI Engagement Award

A PCORI (Patient-Centered Outcomes ResearchInstitute) grant was awarded in May 2015 to PXE International. The grant will develop a research agenda created by individuals who have a lived experience of PXE, instead of solely by scientists or the leadership of PXE International. PCORIwants us to know what people living with PXE think is important versus what scientists would like to study. Sometimes these overlap, and sometimes they do not. In order to guide the work of this grant from a PXEerpoint of view, a Participant Advisory Group (PAG) composed of volunteers affected by PXE or family members of PXEers, participates in the project to keep the focus on what is most important to people living with the condition. To date, they have been very busy!

The project has many phases, beginning with determining potential PXEer-centric research questions. The PAG vetted these topics and questions. These were then voted on in an online survey distributed to the Chat list, Facebook, Twitter, and email lists. The questions were distilled into an agenda for a meeting that took place on October 16 – 18, 2015in Washington DC. The meeting was designed to give all attendees the opportunity to comment on and prioritize the questions. The PAG, researchers actively working on PXE, PXEers, and their families worked together for the three days. Six panels composed of a PXEer, a researcher, and clinician discussions focused on the research questions described above. The six Saturdaybreakout sessions covered the eye, skin, cardiovascular, parents/partners/loved ones, vitamins and other alternatives, and the genetics of PXE. A dedicated moderator, a note-taker and a room host also supported each session.

20th AnniversaryConference

This was also a great opportunity to celebrate PXE International’s 20th anniversary, and the meeting was a huge success. Sunday morning wrapped up the event with reflections on the PXE research agenda, insights into the process, and what the community can do to move forward with this agenda. The next steps are to determine priorities for PXEInternational to address in the upcoming years. This will also help to clarify PXEInternational’s grant funding strategies. To view the topics discussed and photos of the event please visit the 20th Anniversary Conference webpage.

pxe anniversary meeting

Matching Campaigns

Jessica Harper and Tom Rothman 20/20 Matching Challenge Campaign

On October 12, 2015, Board member Jessica Harper and her husband Tom Rothman launched a hugely successful $200,000 matching challenge fundraiser. PXE International received numerous donations from the community, and the finaltally is $483,626.26. Thisincludes Jessica and Tom’s generous $200,000 match.

Robin and Joe Maas Matching Challenge Campaign

Inspired by the success of the PXE 20/20 challenge, Board member Joe Maas and his wife Robin challenged the community to raise an additional $75,000,which they would match. This challenge campaign was also very successful, andincluding the $75,000 from the Maas’, $154,613.00 was raised.

Thank you for your generosity! Wehave prioritized ~$4,000,000 in potential research projects, including those identified by PXEers. If you have not yet donated, there is still time: donate here

Yardi Grant

Yardi, an international real estate software company managed by GordonMorrell, a PXE dad, has been a phenomenal supporter of PXE International overmany years. This year, Yardi again awarded PXE International a $25,000 grant.The grant helps support ongoing research. The 2015 funds will focus oncollecting data from individuals affected with PXE to better understand thedisease progression. With the Yardi grant, we will continue a survey thatcollects information about the signs, symptoms, and lived experience of PXEfrom individuals affected by the condition. The project will attempt to findcorrelations of the physical signs of PXE (phenotype) withspecific genetic mutations (genotype). There are a number of potentialtherapies that may be useful in pseudoxanthoma elasticum (PXE) that will beassociated with specific genotypes. It is possible to collect information onthe treatments individuals take, compare this to their genotype, and narrowdown the number of therapies PXE International should consider for clinicaltrials.

Research Priorities

All of the donations and grants we receivesupport research. Stay tuned for more information about priorities as theyemerge. We are always ready to hear yourideas about priorities at any time. Email our research coordinator, Jannat Gill.

Research Funding

PXE International recently awarded András Váradi funding for looking at ways to improve the activityof missense ABCC6 mutants. András Váradi is the head of thelaboratory of active transport proteins at the Institute ofEnzymology, Hungarian Academy of Sciences, in Budapest, Hungary. Hisprevious research has contributed immensely to the advancement of research on PXE. He is highly collaborative and works with many research groups.

Andras Varadi

Important Discovery

A discovery by Koen van de Wetering and Piet Borstof the Division of Molecular Oncology at the Netherlands Cancer Institute,funded through generosity of PXEers contributing to PXE International, open adoor to potential treatments for pseudoxanthoma elasticum (PXE). Theirwork unlocks a key mystery that has baffled scientists since the gene associatedwith PXE was discovered in 1999. 

They discovered a connection between a substancecalled inorganic pyrophosphate (PPi) and its role in inhibiting mineralizationin PXE. Please see the Role of PPi lay summary and the ATP Released by Liver Cells Generates PPi lay summary for a fuller explanation.

This is a terrific finding and now gives direction to further work inanimal models and eventually human trial. Read the Full Announcement

PXE International Bids Farewell to Terry Mac Dermaid

Terry Mac Dermaid has been one of the major foundational forces in PXE International forthe past 11 years. Terry is a phenomenally organized individual and has alwayskept us on track and on target. She hasserved in many roles. Terry came to PXE International in April 2004, recruitedby Christine Vocke, to manage the website and provide project managementsupport. Terry was promoted to Assistant Director in October 2008 and to Executive Director in October 2012. Prior to this, her career involved over 25 years' experience in administrative and project management support in thelegal, manufacturing, credit union, marketing, training, IT, qualitymanagement, rescue mission, event management and church administration fields.There is no doubt that we have made enormous strides due to Terry’s leadership.The grants described above, and the organization of the Participant Advisory Group, are a few of the amazing outcomes of her terrific work! We wish her the best in her future endeavors.

terry mac dermaid

PXE International Welcomes New Research Coordinator

Coordinating PXE International research endeavors is not easy task. We not only work to catalyze major projectsin laboratories around the world, but also to conduct our own research. Our new coordinator, Jannat Gill completed her postgraduate work in public healthfrom University of California, San Francisco. Her studies focused on research projects that would help address oral health disparities. She also has her masters Degree in Public Health with a concentration in Health Policy andManagement from New York Medical College, as well as a Bachelor of DentalSurgery from India. She is passionate about research and public health. She is very excited to learn more about PXE and looks forward to assisting PXEers,researchers, and educators at PXE International.

jannat gill

Digital Strategies Workgroup

Volunteerfor the Digital Strategies Workgroup! We will work together to determine what improvements should be made to all of our digital strategies – tools like thewebsite, Facebook, Twitter, and our listservs. To join this workgroup please email Sharon Terry: sterry@pxe.org.

If this information was helpful to you, please consider making a quick donation today because every penny counts. 100% of donations go to support and research.