About the Association
About the Melorheostosis Association
The Melorheostosis Association is a 501(c)(3) nonprofit organization dedicated to finding the cause, treatments, and cure for melorheostosis. Our focus is on promoting greater awareness and understanding of this progressive disease and its manifestations through education, research, communication, and advocacy efforts on behalf of those affected by it, as well as those dedicated to alleviating it.
Starting in 2001, the Melorheostosis Association has established the world’s largest database of melorheostosis patients, created an active community of patient support and communication, hosted 14 international conferences, established a world-renowned Medical Advisory Panel, funded research, established a tissue repository, coordinated with the Mayo Clinic, promoted awareness, and participated in critical melorheostosis research, including a long-term study of melorheostosis at the National Institutes of Health. Our all-volunteer Board of Directors is, and always has been, comprised of patients and parents of melorheostosis patients.
The Association’s efforts, participation, and collaboration have assisted in the identification of 4 causative genes for melorheostosis, MAP2K1, SMAD3, KRAS, and some germline mutations of LEMD3.
Melorheostosis patients, and their families, are strong, determined, and highly motivated. Our fondest hope is that the continued efforts of the Association will lead to treatments and, ultimately, a cure for melorheostosis. We will not rest until it does.
Meet the Melorheostosis Association Board Members
Left to right: Kathleen Harper, Jen Gordy, Katrina Wells, Amanda Shapiro
Kathleen Harper
Founder & Chairperson
New York, New York
kathleen@melorheostosis.org
Kathleen is an attorney living in New York City who started a website in 2000 to meet at least one fellow patient, and to connect melorheostosis patients, doctors, and researchers with each other and all available resources. It has been her joy and privilege to be involved in the founding of the organization, the establishment of the Medical Panel, hosting international conferences, funding research, and participating in research.
Jen Gordy
President
Denver, Colorado
jen@melorheostosis.org
Jen is a melo patient diagnosed when she was 2 years old back in the early 1980’s. She has “internal” melo sporadically in both legs, hips, feet, and four toes. She found the Association from a web search, attended her first conference, and joined the association as a board member in 2006. She has had the privilege of being the board president for the last 13 years.
Amanda Shapiro
Secretary
Baltimore, Maryland
amanda@melorheostosis.org
Amanda was diagnosed with melo in 1998 on her left foot. Over the years, it has progressed only on the left side – all the way up to her ribs. It has slowed her down a bit, but you will still find her on the sidelines cheering for one of her two boys playing sports! She has been working with the Association for about 20 years, and her favorite part of being on the Board is helping to plan the amazing conferences.
Katrina Wells-Vardjan
Treasurer
Lebanon, Pennsylvania
katrina@melorheostosis.org
Katrina was diagnosed with melo at age 15, and has melo throughout the left leg from her femur through her foot. Quickly after diagnosis, she got home to fire up the dial-up internet, found the Association, posted her personal history, and attended a conference shortly thereafter. She has served on the board as the treasurer since 2016. She also started and continues to moderate our patient community on Facebook. (Check it out here.)
Chairman of our Scientific Advisory Board:
Michael P Whyte MD
Chairman, Scientific Advisory Board
Emeritus Professor of Medicine, Pediatrics, and Genetics;
Division of Bone and Mineral Diseases;
Department of Internal Medicine;
Washington University School of Medicine;
St. Louis, Missouri, USA
Key Research Partner:
Timothy Bhattacharyya MD
Head, Clinical and Investigative Orthopaedic Surgery Section
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institutes of Health
Bethesda, Maryland, USA
Affiliations
The Melorheostosis Association is a proud supporting member of the following organizations supporting the rare disease communities.
Melorheostosis News
Learn more about newsworthy melorheostosis moments or click through to read prior newsletters.
- Melorheostosis Association Newsletters – read up on our newsletters, and don’t forget to subscribe below!
- Newsweek – ‘Dripping Candle Wax’ Bone Disease: Scientists Find Cause of Rare Condition That Causes Bones to ‘Flow’
- DailyMail – Mystery behind ‘dripping candle wax’ disease that affects just 400 people worldwide is cracked in an ‘exciting’ study
- DotMed – NIH researchers crack mystery behind rare bone disorder
- AJMC – Discovery About Rare Bone Disease May Also Hold Clues About Bone Health
Dr. Fred Kaplan | Future of Research
Watch this video from Dr. Fred Kaplan, M.D., former chair of our Medical Panel, as he describes his vision for the future of melorheostosis research and the
work towards a cause, treatment, and cure.