PXE International Announces Establishment of the James O’Loughlin PXE Research Fund

Washington, DC, October 19, 2017: PXE International is thrilled to announce that Mr. James O’Loughlin has generously donated $100,000 to PXE International to establish the James O’Loughlin PXE Research Fund to support research in pseudoxanthoma elasticum (PXE). This contribution will serve to support the work of Jonathan Schoenecker, MD, PhD, in the Department of Orthopaedic Surgery and Rehabilitation at Vanderbilt University Medical Center (VUMC) in Nashville, Tennessee.

Affected by PXE himself, Mr. O’Loughlin is a longtime member of PXE International. He is an avid sailor, and first gained notoriety in the PXE community through his adventurous nature, despite all odds. When he lost his eyesight, he continued to pursue his passion for sailing by participating in the Texas Blind Sailing Team. As a sail trimmer and Helmsman with a sighted guide, he and his team have three National championships and have competed internationally in the Blind World Championship regattas.

In his inimitable way, he says, ”Being blind was not going to stop me from sailing. Neither should PXE research be thwarted by a lack of funding!” Mr. O’Loughlin hopes that by funding research, we can learn more about how to stave off the vision loss associated with PXE and allow us all to be productive members of society.

Dr. Jonathan Schoenecker, the beneficiary of Mr. O’Loughlin’s generosity, is dedicated to researching the body’s response to injury. This may seem unrelated to PXE, but we think we have found an important connection. When Sharon Terry, the founding CEO of PXE International, whose two children are affected by PXE, first learned that PXE International funded research had discovered a connection with pyrophosphates and PXE, she began an intensive online search for researchers who understood pyrophosphates.

She recounts, “It was getting late in the day, and I hit on a guy who seemed to be connecting the dots through his thinking. Though he did not mention PXE in his published papers, I had a mother’s intuition that he might understand what we needed. I emailed him hoping I would get an answer in the coming months and he might give me a few minutes to make my case. Ten minutes later I had an email in my inbox – could we have a call? And so, not more than 30 minutes after sending that email I was on the phone with perhaps the most earnest, gracious, individual I had met in the research arena.”

Dr. Jon Schoenecker

 

Jon remembers this well, and was surprised and delighted, he exclaimed, “How did you know I was thinking about and have begun working on PXE?” Ms. Terry remembers with delight, “I had no idea. How did this synergy through PubMed, the online database of published research, happen? I remember jumping at the chance to work with this open, transparent, and generous soul. Jon rearranged pediatric orthopaedic surgeries, so he could come present at our biennial meeting. It was a match made in research heaven.”

Dr. Schoenecker is a pediatric surgeon whose primary focus is treating children with developmental diseases or suffering from traumatic injuries. He obtained his PhD in pathology at Duke University Graduate School in Durham, NC and graduated with a medical degree in 2003 at Duke University School of Medicine. He completed his residency at Vanderbilt University Medical Center in orthopaedic surgery and a fellowship in pediatric orthopaedics at Children’s Hospital in Boston, MA.

Dr. Schoenecker is now focused on understanding how the body prevents the inappropriate deposition of calcification in all soft tissues as well as the mechanism that the body removes these deposits.

Through the generous donation by Mr. O’Loughlin, he will investigate the role of macrophages in the prevention and resolution of calcification of soft tissue that occurs in diseases such as PXE. Specifically, he proposes that these macrophages play a key role in fighting the problems of the disease by traveling around and eating these crystals. Dr. Schoenecker’s specialization in orthopaedics gives him a unique perspective on calcification in bone and tissue. His collaboration with PXE International allows us all to learn more about the true mechanisms in PXE.

PXE International is immensely grateful to Mr. O’Loughlin for establishing this incredible research fund. We thank him on behalf of everyone with PXE across the globe. His thoughtful generosity will help thousands of patients similarly affected. We are hoping Mr. O’Loughlin’s tenacity and resilience are hallmarks of his research fund as well, and we will soon see opportunities to treat PXE. This work may also lead to benefits for more diseases than we can imagine. Stay tuned for periodic updates on this important work.


About PXE International: PXE International is a 501 (c) (3) organization dedicated to finding treatments for pseudoxanthoma elasticum (PXE), providing support for affected individuals, and educating clinicians about the condition. Founded in 1995, it initiates, conducts, and funds research all over the world. In addition, PXE International holds international and regional meetings to educate affected individuals and their families.

This TED talk provides more information about the founding and subsequent activities of the founders: TEDMED TALK ; and PXE is featured in this TED Radio Hour: TED RADIO HOUR.