From Genetic Diagnosis to Gene Editing Therapy for Telomerase RNA–Related Bone Marrow Failure 

2026–2029 (General Fellowship): From Genetic Diagnosis to Gene Editing Therapy for Telomerase RNA–Related Bone Marrow Failure. Dr Ashley Yang, Children’s Medical Research Institute. 

Telomeres are protective structures at the ends of chromosomes. They help maintain cell health and function, particularly in rapidly dividing cells such as blood-forming stem cells. 

Changes in genes that maintain telomeres can lead to Telomere Biology Disorders, a major subgroup of inherited Bone Marrow Failure Syndromes. In these conditions, telomeres may become too short or faulty, causing blood-forming stem cells to wear out prematurely. Genetic testing can also identify telomere-related changes that are difficult to interpret, creating uncertainty for families and clinical teams. 

Bone marrow transplantation can offer a cure, but it is not suitable for all patients and carries substantial risks. 

Through this Fellowship, Dr Ashley Yang will investigate variants in TERC, a key telomere-related gene. Using a CRISPR-based gene-editing approach, Dr Yang will model patient-specific TERC variants in human blood cells to determine which changes disrupt telomere function and contribute to disease. 

The findings could improve interpretation of genetic test results, provide clearer answers for families and support clinical and reproductive decision-making. The project will also explore strategies to precisely correct harmful TERC mutations, laying groundwork for future gene-editing therapies for telomere-related Bone Marrow Failure Syndromes.