Dana Farber Cancer Institute/Children's Hospital Boston
2006
Boston
MA
Media
Answers Blog
Becca Hudson has dyskeratosis congenita, causing her chromosomes’ telomeres to shorten and her tissues to age too soon. A new treatment that Dr. Suneet Agarwal hopes to test, thymidine, could build telomeres back up.
Certifications
American Board of Pediatrics (Hematology-Oncology)
Publications
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders. View Abstract
Metabolic constraint of human telomere length by nucleotide salvage efficiency. View Abstract
Chemotherapeutic 6-thio-2'-deoxyguanosine selectively targets and inhibits telomerase by inducing a non-productive telomere-bound telomerase complex. View Abstract
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder. View Abstract
Liver disease and transplantation in telomere biology disorders: An international multicenter cohort. View Abstract
Minimal intensity conditioning strategies for bone marrow failure: is it time for "preventative" transplants? View Abstract
Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome. View Abstract
Understanding the evolving phenotype of vascular complications in telomere biology disorders. View Abstract
Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita. View Abstract
Ectopic expression of RAD52 and dn53BP1 improves homology-directed repair during CRISPR-Cas9 genome editing. View Abstract
Exudative Vitreoretinopathy in Dyskeratosis Congenita. View Abstract
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. View Abstract
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. View Abstract
Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies. View Abstract
Association of Donor and Recipient Telomere Length with Clinical Outcomes following Lung Transplantation. View Abstract
A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding. View Abstract
Posttranscriptional manipulation of TERC reverses molecular hallmarks of telomere disease. View Abstract
Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component. View Abstract
Simultaneous sequencing of oxidized methylcytosines produced by TET/JBP dioxygenases in Coprinopsis cinerea. View Abstract
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. View Abstract
Induced pluripotent stem cells with a mitochondrial DNA deletion. View Abstract
A young adult with aplastic anemia and gray hair. View Abstract
The GLIB technique for genome-wide mapping of 5-hydroxymethylcytosine. View Abstract
CTC1 Mutations in a patient with dyskeratosis congenita. View Abstract
Telomere dynamics in dyskeratosis congenita: the long and the short of iPS. View Abstract
Genome-wide mapping of 5-hydroxymethylcytosine in embryonic stem cells. View Abstract
Somatic coding mutations in human induced pluripotent stem cells. View Abstract
Cellular therapy for fanconi anemia: the past, present, and future. View Abstract
Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies. View Abstract
Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. View Abstract
Large intergenic non-coding RNA-RoR modulates reprogramming of human induced pluripotent stem cells. View Abstract
Dynamic instability of genomic methylation patterns in pluripotent stem cells. View Abstract
Reprogramming of T cells from human peripheral blood. View Abstract
Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients. View Abstract
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. View Abstract
Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. View Abstract
Generation of induced pluripotent stem cells from human blood. View Abstract
Current prospects for the generation of patient-specific pluripotent cells from adult tissues. View Abstract
Cardiac troponin increases among runners in the Boston Marathon. View Abstract
Deletion of a conserved Il4 silencer impairs T helper type 1-mediated immunity. View Abstract
TID1, a mammalian homologue of the drosophila tumor suppressor lethal(2) tumorous imaginal discs, regulates activation-induced cell death in Th2 cells. View Abstract
A 3' enhancer in the IL-4 gene regulates cytokine production by Th2 cells and mast cells. View Abstract
Th2 lineage commitment and efficient IL-4 production involves extended demethylation of the IL-4 gene. View Abstract
Cell-type-restricted binding of the transcription factor NFAT to a distal IL-4 enhancer in vivo. View Abstract