October 27, 2025
Nano-rare disease advocates, clinicians, researchers, and industry collaborators gathered in Cambridge (MA) earlier this month for the n-Lorem Foundation’s 2025 Nano-rare Patient Colloquium.
For nano-rare APBD patients with the deep intronic variant, the n-Lorem Foundation’s work to develop personalized medicines -- using antisense oligonucleotide (ASO) technology -- is a critical therapy development program
Two sessions of interest included:
Dr. Konstantina Skourti-Stahaki (Senior Director of Discovery and Research) discussed the ASO scientific discovery process. Her presentation used a published research study about the ASO which targets the GBE1 gene. You can read a summary of the study here!
Andrew Serrano (Digital Marketing Manager) shared the “Patient Empowerment Podcast” and other resources that n-Lorem has developed to support nano-rare patients.
For all of the conference recordings, be sure to visit the Nano-rare Patient Colloquium webpage.
Lindsay Gill, Ph.D., our Foundation’s Research Manager attended the Colloquium virtually and stated, “The n-Lorem Foundation is working diligently to provide personalized treatments to patients who are overlooked by large pharmaceutical companies due to the small number of individuals with their particular gene mutation or disease. It is wonderful that a segment of the APBD population may be able to benefit from their groundbreaking work.”
News Releases
The APBD Research Foundation is preparing to host a Vision Loss and APBD Focus Group to convene later this fall. This group will bring together APBD patients who have experienced or are experiencing changes to their vision, caregivers, and clinicians in a 1.5 hour session to learn about lived experiences with vision-related symptoms and begin to understand how vision loss is associated with APBD.
The APBD Research Foundation is excited to announce a new collaboration with Costello Medical, Inc., following the Foundation’s successful application to Costello Medical’s pro bono project initiative for Rare Disease organizations.
We are honored to share the story of an extraordinary act of generosity and planning by former Board member David Epstein. David passed away on January 3, 2026.
The APBD Research Foundation is delighted to announce that Lindsay Gill, PhD has been promoted to full-time Research Director.
We are thrilled to announce that our community raised an incredible $201,177 during the 2026 APBD Tour de Friends Rally for Research fundraising campaign, exceeding our original goal of $120,000.
The Academy of General Dentistry (AGD) recently awarded the APBD Research Foundation's co-president Dr. Jeff Levenson with the Lifelong Learning & Service Recognition (LLSR). He received this award along with 36 other LLSR recipients during the AGD’s scientific session in Las Vegas, NV on June 27, 2026.
In April 2026, the APBD Research Foundation announced participant recruitment for its APBDRF Drug Repurposing Study initiative in partnership with COMBINEDBrain. We are grateful to the patients and families in our community that have volunteered to provide biosamples to help make this study a reality.
The APBD Research Foundation is pleased to announce the third of our 2025 Rally for Research Pilot Grant Program grant recipients: Rebecca Koch, PhD, RDN at Duke University. Her research project is entitled, Gene Therapy to Treat the Neurophenotype of Glycogen Storage Disease Type IV.
The APBD Research Foundation is pleased to announce the second of our 2025 Rally for Research Pilot Grant Program grant recipients: Mayank Verma, MD, PhD at UTSW Medical Center. His research project is entitled Preclinical Validation and Biomarkers in APBD of a GYS1-ASO Currently in Phase 1 Clinical Trial for Lafora Disease
On behalf of the APBD community, the APBD Research Foundation has responded to the US Food and Drug Administration's (FDA) request for public comments for its recently released draft guidance for the use of the Plausible Mechanism Framework for individualized genetic therapies.