Team Telomere at the EMBO Workshop on Telomere Function and Maintenance in Health and Disease

Team Telomere was grateful to participate in the EMBO Workshop on Telomere Function and Maintenance in Health and Disease, held in Lazise, Italy. This multi-day international meeting was dedicated entirely to telomere science – a powerful reminder of how much momentum exists in the field and how many researchers around the world are working to understand telomeres at the most fundamental level.

A helpful way to understand the meeting is through breaking down the three overarching types of research: 

1. Basic science asks, How does this work? Many EMBO talks focused on the foundational biology of telomeres: how telomeres are protected, how telomerase works, how telomere length is controlled, how cells respond to telomere damage, and how some cancer cells use alternate pathways to maintain telomeres.
2. Clinical research asks, What is happening in patients, and how can care improve? For the Telomere Biology Disorder community, this includes questions about diagnosis, symptoms, organ involvement, screening, management, treatment, and outcomes over time.  
3. Translational science sits in the middle. It asks, How do we connect what is being discovered in the lab to what patients and clinicians need?

Much of EMBO highlighted the strength of basic telomere science. This work is essential because it creates a foundation. However, at the same time, one of Team Telomere’s biggest takeaways was the need for continued investment in translational science research that connects discoveries in the laboratory to real-world diagnosis, care, and treatment for people living with Telomere Biology Disorders.

The session most directly connected to our community was “The Role of Telomeres in Disease.” This session included presentations on the TBD metabolome, patient-centered research, telomere shortening in aging and cancer, genomic instability and fibrosis-related pathways, blood stem cell expansion, and patient-derived lung cell models involving an RTEL1 variant. Katie Stevens, Team Telomere’s CEO, also presented during this session, bringing the patient advocacy and community infrastructure perspective directly into the scientific program.

Katie’s talk, “Advocacy-Driven Infrastructure to Advance Diagnosis, Care, and Research Readiness in Telomere Biology Disorders,” highlighted how Team Telomere has grown alongside science. Katie’s presentation began by showing how the TBD field has evolved. A central message of Katie’s talk was that patient stories cannot only be held or told – they need to be translated into science. She showed how advocacy is essential to research as it allows community experiences to be organized into data, clinical insights, shared resources, and structured opportunities for collaboration.

One concrete example was Team Telomere’s work with Citizen Health. Through this digital natural history effort, patient-consented information can be organized into research-ready data, creating a pathway to better understand natural history, patterns by gene, disease trajectories, long-term outcomes, and more. Katie shared two case examples that showed why this matters: one reflected a pediatric presentation and another reflected an adult diagnosed later in life. Through the diagnostic arc of both the cases, Katie demonstrated how longitudinal data can help connect genetic findings, telomere length patterns, organ involvement, treatments, and outcomes over time.

In the presentation, she also presented analysis from the Centers of Excellence network, showing how information gathered across centers can generate actionable and translatable insights. The presentation highlighted how centers approach diagnostic complexity, including situations where patients have no identified genetic cause, telomere length in the 1st–10th percentile, or clinical features that do not fit neatly into one pattern. She also shared how centers identified areas of greatest need in TBD research over the next five years as these findings are helping inform research priorities, shared frameworks, case-based learning, and multidisciplinary discussions.

In addition to Katie’s talk, Team Telomere presented a poster also titled “Advocacy-Driven Infrastructure to Advance Diagnosis, Care, and Research Readiness in Telomere Biology Disorders.” The poster highlighted three major areas of work: improving diagnostic awareness, strengthening coordinated care, and building research readiness. It shared the global reach of the Telomere Biology Disorders: Diagnosis and Management Guidelines, Second Edition, utilization of one-page educational resources, analysis from the Centers of Excellence network, and Citizen Health as a foundation for digital natural history research.

At a meeting filled with extraordinary discussion of telomere biology, Team Telomere helped bring the conversation back to the people impacted by TBDs – and to practical avenues that can move the field forward. The work happening across the telomere field is remarkable; EMBO was a powerful reminder of both 1) the promise of this science and 2) the importance of keeping science connected to those it can benefit. Team Telomere’s role continues to ensure that this work continues toward stronger translational research and meaningful progress for individuals and families impacted by Telomere Biology Disorders.