Targeting the shelterin component TINF2 in telomere diseases
Awardee: Suneet Agarwal
Institution: Boston Children's Hospital
Grant Amount: $65,445
Funding Period: February 1, 2022 - January 31, 2023
Summary:
Telomere biology disorders (TBDs) affect multiple parts of the body, including the blood, lungs, liver and bones. There are no effective treatments that address the life-threatening problems. Telomeres are the ends of chromosomes that ensure ability of cells to keep dividing to replace damaged cells with new healthy ones. In TBDs, genetic mutations reduce telomere length and thus cells cannot regenerate themselves, and the tissues fail causing disease. By studying a particular mutation, we have found that decreasing a protein called TIN2 can increase telomere length in TBD patient cells. In this proposal we will study in depth whether reducing TIN2 could be a viable strategy to restore telomeres in the setting of various mutations that cause TBDs, and also test whether chemicals can be used to achieve this effect. These studies could provide a new therapeutic strategy that could be applied throughout the body for patients with TBDs.