July 7, 2023
Today, the National Organization for Rare Disorders (NORD) and the APS Type 1 Foundation, a NORD member organization, announced the awarding of a $50,000 grant for research into this rare autoimmune disorder. The grant, which is part of NORD’s Jayne Holtzer Rare Disease Research Grants Program, was made possible by funding from the APS Type 1 Foundation.
Autoimmune Polyglandular Syndrome Type 1 (APS-1) is a rare and complex inherited autoimmune condition caused by mutations in the autoimmune regulator (AIRE) gene. It presents as a group of symptoms including potentially life-threatening endocrine gland and gastrointestinal dysfunctions. APS-1 patients are also at increased risk of developing a myriad of other conditions including, without limitation, gonadal failure, intestinal dysfunction, alopecia, pneumonitis, and hepatitis. To date, there is no cure or treatment for this syndrome.
This research grant has been awarded to Dr. Matthieu Giraud, PhD, a Senior Researcher and group leader at INSERM based in Nantes, France, for his project titled, Generation of iPS-derived Tregs for cell therapy in APECED. (APECED, which stands for autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome, is another term for APS Type 1.)
This project focuses on the potential for regulatory T cell (Treg) therapy, specifically looking at CD4+ and/or CD8+ Tregs. Its ultimate goal is to set up a production platform of immunosuppressive Treg that would, once transferred to APECED patients, alleviate the deleterious autoimmune manifestations of the disease. This therapeutic strategy would potentially benefit patients with the advantage that it requires a simple skin biopsy, rather than transplantation or other surgery.
“On behalf of the APS Type 1 Foundation, we are thrilled to support Dr. Giraud’s ground-breaking work. Thank you to NORD and to our incredible families and donors for making this grant possible. Without the support of our families and donors, our work wouldn’t be possible,” said Todd Talarico, President of the APS Type 1 Foundation.
NORD’s Jayne Holtzer Research Grants provide seed funding to academic scientists for translational or clinical studies that further development of potential new diagnostics or treatments of rare diseases. The grants are competitive and international. Learn more here.
With a 40-year history of advancing care, treatments and policy, the National Organization for Rare Disorders (NORD) is the leading and longest-standing patient advocacy group for the 25-30 million Americans living with a rare disease. NORD, a 501(c)(3) nonprofit, along with its more than 330 patient organization members, is committed to improving the health and well-being of people with rare diseases by driving advances in care, research and policy.
About the APS Type 1 Foundation
The APS Type 1 Foundation, Inc. is a 501(c)(3) organization and NORD Member whose mission is to support education, awareness and research in APS Type 1. With generous support from patients and families, this will be the Foundation’s 8th grant in collaboration with NORD. The Foundation is supported by a medical advisory committee, which provides guidance to strengthen the APS Type 1 community and build capacity. The Foundation also collaborates with approximately 30 researchers and clinicians from around the globe.