Research Corner
At Team Telomere, we know the power of empowering and educating our community. We are fully dedicated to providing you with access to the most current and up-to-date information available. Delve into the latest research highlights, available study opportunities, and research resources.
Research Highlights
Each month, we highlight emerging research in our newsletter to keep our community informed and inspired by the advancements being made for those with Telomere Biology Disorders. Read more about some of our recent highlights:
Dr. Blanche Alter receives prestigious Wallace H. Coulter Award for Lifetime Achievement in Hematology
Dr. Blanche Alter, MD, MPH received the prestigious Wallace H. Coulter Award for Lifetime Achievement in Hematology at the 65th American Society of Hematology Annual Meeting in December 2023! Dr. Alter’s work has led to critical contributions in the field of Telomere...
The Experience and Management of Medical Uncertainty in Telomere Biology Disorders
by Dr. Emily Pearce
The Telomere Biology Disorder community sends major congratulations to Dr. Emily Pearce for defending her dissertation and earning her PhD! Dr. Pearce's thesis was titled “The Experience and Management of Medical Uncertainty in Telomere Biology Disorders” and studied...
Thymidine Nucleotide Metabolism Controls Human Telomere Length
by Will Mannherz and Dr. Suneet Agarwal
Our lab focuses on understanding what controls telomere length from a molecular level, with the hope that this knowledge will help us develop new therapies to treat telomere related diseases. This project began with the simple idea: What if there are pathways in the...
Pharmacologic Rescue of Telomere Defects in Dyskeratosis Congenita
by Dr. Brad Johnson and Dr. Chris Lengner
Telomere disorders including dyskeratosis congenita (DC) manifest in stem cell failure in highly proliferative tissues such as the skin, blood, and gut, as well as fibrosis in organs including lung and liver. While hematopoietic manifestations can be treated with bone...
Pre-malignant Clonal Evolution in Telomere Biology Disorders
by Dr. Daria Babushok, Dr. Bradley Johnson, and Dr. Timothy Olson
We are excited to share an update on our research project, "Pre-malignant Clonal Evolution in Telomere Biology Disorders," supported by the Team Telomere Million Dollar Bike Ride Grant. Telomere Biology Disorders (TBD) are genetic diseases that cause critical telomere...
Patient Engagement and Involvement in Rare Disease Research: Spotlighting RARE-X in Nature
by Megan O’Boyle
Team Telomere's patient registry was recently featured in Nature, the world's leading multidisciplinary science journal! Megan O’Boyle is the parent of a 22-year-old daughter with a rare neurodevelopmental disease. She is currently the Patient Engagement Lead of the...
Editing TINF2 as a Potential Therapeutic Approach to Restore Telomere Length in Dyskeratosis Congenita
by Dr. Alison Bertuch and Dr. Dirk Hockemeyer
Despite their frequency and severe impact on children in the TBD community, mutations in the gene TINF2 remain some of the least understood causes of telomere biology disorders (TBDs). Significantly, one central question related to how these mutations cause disease...
Characterization of Telomere Maintenance in Tumor Models of Dyskeratosis Congenita
by Dr. Judy Wong
Our amazing 2020 Team Telomere Million Dollar Bike Ride Grant Awardee was Dr. Judy Wong! Her project, “Characterization of Telomere Maintenance in Tumor Models of Dyskeratosis Congenita”, worked to understand how cancer develops in individuals with Telomere Biology...
Studying the Functional Interaction Between Compound Heterozygous TERT Mutations
by Dr. Tracy Bryan
My laboratory first started work on telomerase, the molecule that elongates telomeres, more than 20 years ago; at the time, we were interested in the fundamental biochemistry behind this intriguing molecule, and how we might target it for cancer therapy. This...
Additional Resources
Diagnosis and Management Guidelines
The most up-to-date Telomere Biology Disorders research can also be found within our Telomere Biology Disorders: Diagnosis and Management Guidelines.
Research & Clinical Trials
Telomere Biology Disorders Patient Registry
Those impacted by Telomere Biology Disorders play the most critical role in accelerating medical and scientific advancements. Join our Patient Registry to move our field forward!
