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What is RP?
Resources
Research Initiatives
About Us
Get Involved

RP and Related Autoimmune Disease Research Update

David Bammert
September 18, 2023

We are pleased to share that the RP Foundation is bringing RP and related autoimmune diseases to the forefront of ground-breaking scientific discoveries, thanks to the concerted efforts of the talented researchers that we’re investing in. Over the past 6 months, our research partners experienced the following accomplishments:

Dr. David Beck’s / NYU Grossman School of Medicine

significantly expanding scientific knowledge regarding the genetic changes associated with inflammation in patients with VEXAS syndrome.
established an NYU VEXAS patient clinic with a rheumatologist (Dr. Ho) and plans to develop clinical trials for VEXAS Syndrome and related autoimmune diseases.

Dr. Rashmi Kanagal-Shamanna / UT MD Anderson Cancer Center

established a comprehensive database of subjects with blood cancers and autoimmune diseases, including RP. Using this database, Dr. Kanagal-Shamanna will collaborate with Dr. Beck to identify additional genetic changes associated with RP and related autoimmune diseases.
Kanagal-Shamanna also established a screening procedure for UBA1 mutations in patients who potentially have autoimmune disease. This will assist with the early diagnosis and better management of patients who have this mutation.

Penn Medicine Relapsing Polychondritis Program

becoming a destination for patients with RP, with over 200 patient visits each year. Penn Medicine provides patients with the opportunity to engage with specialized clinicians who are experienced in caring for patients with RP.
Banerjee analyzed data from nearly 200 patients in the VCRC Longitudinal Study of RP focusing on the clinical presentations of patients with RP and the medications used to treat them. She is working on a manuscript summarizing her findings. According to Penn Medicine, this will be the largest and most extensive report ever compiled on RP.

While these accomplishments bring us closer to the discovery of a biomarker and targeted therapy for RP and related autoimmune diseases, our work isn’t quite finished yet. With the belief that collaboration will ignite innovation and fuel additional transformational discoveries, the RP Foundation will be investing in the next wave of research initiatives as we continue forging the path to a cure, as follows:

Expand collaborative research between Drs. Kanagal-Shamanna and Beck to identify new genetic drivers of autoimmune disease and hematologic disease. This is critical due to the unexpectedly high number of patients with blood cancers and underlying autoimmune conditions.
Expand clinical RP and VEXAS clinics (Drs. Beck and Ho).
Continue exploring ways to potentially reverse VEXAS disease processes with the belief this work will spill over to RP and other related autoimmune diseases (Dr. Beck).
Develop clinical trials for VEXAS Syndrome and related autoimmune diseases (Beck).
Develop methods for efficient screening of samples using as little DNA as possible to enable advanced genetic research.
The RP Foundation would not be able to accelerate innovative research initiatives and RP-related clinical trials without the enduring support of our incredible partners.

Please consider making a gift today and show your support of the Foundation’s next wave of research to help us continue catalyzing discoveries for future generations and push us over the finish line.

Give the gift of research, today.

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Relapsing Polychondritis Foundation
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Suite F #232
Speedway, Indiana 46224

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All content of this web site, such as text, graphics, images, or any other material contained in this website are for informational purposes only. The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. We do not recommend the self-management of health problems. We cannot and do not give you medical advice. If you think you may have a medical emergency, call your doctor or 911 immediately. The Relapsing Polychondritis Foundation, Inc. is a nonprofit 501(c)3 corporation. Donations are tax deductible as allowed by law.