On the heels of our recent APBD Scientific & Community Conference, the Foundation team represented our community in person and virtually at key stakeholder convenings across the country. At the cornerstone of our work is the belief in advocacy and collaboration. We believe that through these efforts, we can advance APBD research and drug development.
Our key stakeholder meetings included:
Chelsea’s Hope Conference | San Diego, CA | Sept. 25-27
Lafora Disease, Pompe Disease, and APBD have certain overlaps. At the Chelsea’s Hope Conference, Deberah Goldman, PhD, APBDRF board member and patient, shared her and her brother’s APBD journey along with her unique perspectives on the disease. She and Tiffany House, president of the International Pompe Association, discussed the importance of collaboration among patient advocacy organizations. Together, they sought opportunities to advance research and drug development.
Global Genes Week in Rare Conference | Kansas City, MO| Sept. 26-28
Jeff Levenson, DDS, APBDRF’s co-president, represented the Foundation at the screening of the APBD documentary “Life through a Lens” — one of three documentaries aired — during the event. Additionally, Natacha Pires, MS, MBBS, the Foundation’s Executive Director, shared our findings on the global prevalence of GBE1-related diseases during the virtual Poster Session.
CombinedBrain |Kansas City, MO | Sept. 28
Jeff Levenson, DDS, attended the CombinedBrain Conference, in Kansas City, Missouri, on behalf of the APBD Research Foundation. It was a chance to be introduced to the wonderful work they are doing and explore opportunities for working together.
US FDA’s Rare Disease Innovation Hub Public Meeting |Silver Springs, MD | Oct. 16
Becca Reef, MS, CGC, the Foundation’s Scientific Coordinator, was one of only 40 individuals selected to present at the FDA’s public meeting titled, “Advancing Rare Disease Therapies Through an FDA Rare Disease Innovation Hub.”
In her impactful remarks, Becca emphasized the urgent need for the FDA to prioritize efforts that foster greater collaboration among all stakeholders involved in rare disease research. She called for improved coordination between the FDA, patient advocacy groups, and research organizations, stressing that such engagement is essential to address the critical questions that must be answered to drive advancements in rare disease therapies.
CZI Science in Society Convening |San Jose, CA | Oct. 15-17
Natacha Pires, MS, MBBS, the Foundation’s Executive Director, joined over 200 rare disease advocates from patient advocacy and research organizations, as well as clinicians, researchers, and other leaders, for the CZI Science in Society Annual Meeting. The sessions covered equity in research, policies and systemic approaches to scaling genetic diagnoses, data integration for disease characterization, and a poster session.
During the meeting, Natacha was asked an important question: “How do you know what is important to patients?” She answered by emphasizing, “Go to the patient advocacy organizations. They are the heartbeat of the patient population.” Natacha also shared the Foundation’s work to develop an APBD-specific patient-reported outcome measure during a panel discussion and the poster session.
National Organization for Rare Disorders “Rare Summit” | Washington, D.C. | Oct. 20-22
Becca Reef, MS, CGC, the Foundation’s Scientific Coordinator, joined clinicians, researchers, industry representatives, and fellow advocates at the NORD Rare Summit. She participated in the full-day Registry Community Leaders Meeting, where leaders shared valuable insights, innovative strategies, and exciting future directions for rare disease registries.
The subsequent conference sessions highlighted patient perspectives, innovative approaches, equity and accessibility challenges, and key policy priorities. Becca presented the Foundation’s collaborative efforts with the Rare Genomes Project to refine prevalence estimates for GBE1-related diseases during the poster session.