Research roundtables and case presentations are powerful tools to translate complex scientific data into clear, clinically meaningful insights. They help organize evidence, highlight key trends, and support thoughtful discussion around patient care or therapeutic decision-making. They strengthen scientific communication by making information more accessible to diverse audiences, including clinicians, researchers, and cross-functional teams.
Case Presentation Series
Physicians and researchers are invited to submit cases for our bimonthly Case Presentation Series through a brief online form. Once a case is selected, presenters are supported by one of two written templates built for the series: a Diagnostics Track template for cases centered on diagnostic uncertainty, and a Care Management Track template for cases centered on a difficult management decision. Presenters are also asked to build their slides using the PowerPoint template provided below. All three are designed for a short 3-5 minute presentation followed by open group discussion, so presenters can focus on the case itself rather than how to structure it.
Hepatic Complications
August 27, 2026 – 11AM ET
This session focuses on severe hepatic complications in Telomere Biology Disorders, ranging from cirrhosis and portal hypertension to hepatopulmonary syndrome, along with the small but growing experience with liver transplant in this population.
Research Roundtables
Research Roundtables provide a collaborative forum for clinicians, researchers, and scientific partners to discuss emerging evidence, unresolved questions, and future directions in Telomere Biology Disorder research. Each session focuses on a specific scientific or clinical topic, providing a platform to review the current state of the field, identify knowledge gaps, share perspectives across disciplines, and explore priorities for future research. Through open discussion and expert dialogue, these meetings foster collaboration and help accelerate progress toward improved diagnosis, management, and therapeutic development.
Past Meetings
Case Presentation – Variant Interpretation
April 30, 2026 – 11AM ET
The meeting focuses on cases involving variants of uncertain significance (VUS) where available evidence is insufficient to classify a variant as benign/likely benign or pathogenic/likely pathogenic.
Research Roundtable – Novel Therapies
January 22, 2026 – 4PM ET
This roundtable sought to set concrete, achievable milestones in the development of novel therapies and curative options for patients with TBDs.
Research Roundtable – Enhancing Diagnostics
November 21, 2025 – 2:15PM ET
This roundtable examined strategies to improve the identification and diagnosis of individuals with Telomere Biology Disorders. Discussion focused on: (1) optimal diagnostic approaches, (2) existing barriers to timely diagnosis, and (3) feasible next steps to advance the current landscape.
