Research Overview

Education

Medical School

Harvard Medical School
2001 Boston MA

Internship

Boston Children's Hospital
2002 Boston MA

Residency

Pediatrics Boston Combined Residency Program (BCRP)
2003 Boston MA

Fellowship

Pediatric Hematology -Oncology 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.

Publications

  1. Liver disease and transplantation in telomere biology disorders: An international multicenter cohort. Hepatol Commun. 2024 07 01; 8(7). View Abstract
  2. Minimal intensity conditioning strategies for bone marrow failure: is it time for "preventative" transplants? Hematology Am Soc Hematol Educ Program. 2023 Dec 08; 2023(1):135-140. View Abstract
  3. Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome. Am J Hematol. 2023 12; 98(12):E376-E379. View Abstract
  4. Publisher Correction: Thymidine nucleotide metabolism controls human telomere length. Nat Genet. 2023 Jul; 55(7):1251. View Abstract
  5. Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells. Nat Genet. 2023 07; 55(7):1198-1209. View Abstract
  6. Spectrum of Liver Pathology in Dyskeratosis Congenita. Am J Surg Pathol. 2023 08 01; 47(8):869-877. View Abstract
  7. Thymidine nucleotide metabolism controls human telomere length. Nat Genet. 2023 04; 55(4):568-580. View Abstract
  8. Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13. Nucleic Acids Res. 2022 09 09; 50(16):9413-9425. View Abstract
  9. Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2022 01 01; 97(1):18-29. View Abstract
  10. The clinical and functional effects of TERT variants in myelodysplastic syndrome. Blood. 2021 09 09; 138(10):898-911. View Abstract
  11. Hepatic vascular remodelling in a patient with dyskeratosis congenita. Histopathology. 2022 01; 80(2):450-453. View Abstract
  12. Telomerase RNA recruits RNA polymerase II to target gene promoters to enhance myelopoiesis. Proc Natl Acad Sci U S A. 2021 08 10; 118(32). View Abstract
  13. Mitochondrial function in development and disease. Dis Model Mech. 2021 06 01; 14(6). View Abstract
  14. Short telomere length predicts nonrelapse mortality after stem cell transplantation for myelodysplastic syndrome. Blood. 2020 12 24; 136(26):3070-3081. View Abstract
  15. Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. J Pediatr. 2021 03; 230:55-61.e4. View Abstract
  16. Telomerase RNA processing: Implications for human health and disease. Stem Cells. 2020 Sep 01. View Abstract
  17. Short Telomere Length Predicts Non-Relapse Mortality after Stem Cell Transplantation for Myelodysplastic Syndrome. Blood. 2020 Aug 17. View Abstract
  18. Shorter telomere length following lung transplantation is associated with clinically significant leukopenia and decreased chronic lung allograft dysfunction-free survival. ERJ Open Res. 2020 Apr; 6(2). View Abstract
  19. Impaired reproductive function and fertility preservation in a woman with a dyskeratosis congenita. J Assist Reprod Genet. 2020 May; 37(5):1221-1225. View Abstract
  20. Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells. Cell Stem Cell. 2020 06 04; 26(6):896-909.e8. View Abstract
  21. Understanding the evolving phenotype of vascular complications in telomere biology disorders. Angiogenesis. 2019 02; 22(1):95-102. View Abstract
  22. Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita. Hematol Oncol Clin North Am. 2018 Aug; 32(4):669-685. View Abstract
  23. Ectopic expression of RAD52 and dn53BP1 improves homology-directed repair during CRISPR-Cas9 genome editing. Nat Biomed Eng. 2017 11; 1(11):878-888. View Abstract
  24. Exudative Vitreoretinopathy in Dyskeratosis Congenita. Ophthalmology. 2017 08; 124(8):1246. View Abstract
  25. Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. Sci Transl Med. 2017 02 08; 9(376). View Abstract
  26. Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J. 2017 01; 49(1). View Abstract
  27. Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies. Ophthalmic Genet. 2017 Jan-Feb; 38(1):51-60. View Abstract
  28. Association of Donor and Recipient Telomere Length with Clinical Outcomes following Lung Transplantation. PLoS One. 2016; 11(9):e0162409. View Abstract
  29. A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding. Blood. 2016 10 20; 128(16):2089-2092. View Abstract
  30. Posttranscriptional manipulation of TERC reverses molecular hallmarks of telomere disease. J Clin Invest. 2016 09 01; 126(9):3377-82. View Abstract
  31. Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component. Nat Genet. 2015 Dec; 47(12):1482-8. View Abstract
  32. Simultaneous sequencing of oxidized methylcytosines produced by TET/JBP dioxygenases in Coprinopsis cinerea. Proc Natl Acad Sci U S A. 2014 Dec 02; 111(48):E5149-58. View Abstract
  33. Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Blood. 2014 Jul 17; 124(3):437-40. View Abstract
  34. Induced pluripotent stem cells with a mitochondrial DNA deletion. Stem Cells. 2013 Jul; 31(7):1287-97. View Abstract
  35. A young adult with aplastic anemia and gray hair. Clin Chem. 2013 Jan; 59(1):47-50. View Abstract
  36. The GLIB technique for genome-wide mapping of 5-hydroxymethylcytosine. Nat Protoc. 2012 Oct; 7(10):1909-17. View Abstract
  37. CTC1 Mutations in a patient with dyskeratosis congenita. Pediatr Blood Cancer. 2012 Aug; 59(2):311-4. View Abstract
  38. Telomere dynamics in dyskeratosis congenita: the long and the short of iPS. Cell Res. 2011 Aug; 21(8):1157-60. View Abstract
  39. Genome-wide mapping of 5-hydroxymethylcytosine in embryonic stem cells. Nature. 2011 May 19; 473(7347):394-7. View Abstract
  40. Somatic coding mutations in human induced pluripotent stem cells. Nature. 2011 Mar 03; 471(7336):63-7. View Abstract
  41. Cellular therapy for fanconi anemia: the past, present, and future. Biol Blood Marrow Transplant. 2011 Jan; 17(1 Suppl):S109-14. View Abstract
  42. Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies. J Allergy Clin Immunol. 2011 Jun; 127(6):1400-7.e4. View Abstract
  43. Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. Nature. 2010 Dec 09; 468(7325):839-43. View Abstract
  44. Large intergenic non-coding RNA-RoR modulates reprogramming of human induced pluripotent stem cells. Nat Genet. 2010 Dec; 42(12):1113-7. View Abstract
  45. Dynamic instability of genomic methylation patterns in pluripotent stem cells. Epigenetics Chromatin. 2010 Sep 24; 3(1):17. View Abstract
  46. Reprogramming of T cells from human peripheral blood. Cell Stem Cell. 2010 Jul 02; 7(1):15-9. View Abstract
  47. AID for reprogramming. Cell Res. 2010 Mar; 20(3):253-5. View Abstract
  48. Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients. Nature. 2010 Mar 11; 464(7286):292-6. View Abstract
  49. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer. 2010 Feb; 54(2):273-8. View Abstract
  50. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science. 2009 May 15; 324(5929):930-5. View Abstract
  51. Generation of induced pluripotent stem cells from human blood. Blood. 2009 May 28; 113(22):5476-9. View Abstract
  52. Current prospects for the generation of patient-specific pluripotent cells from adult tissues. Regen Med. 2007 Sep; 2(5):743-52. View Abstract
  53. Cardiac troponin increases among runners in the Boston Marathon. Ann Emerg Med. 2007 Feb; 49(2):137-43, 143.e1. View Abstract
  54. Deletion of a conserved Il4 silencer impairs T helper type 1-mediated immunity. Nat Immunol. 2004 Dec; 5(12):1251-9. View Abstract
  55. TID1, a mammalian homologue of the drosophila tumor suppressor lethal(2) tumorous imaginal discs, regulates activation-induced cell death in Th2 cells. Oncogene. 2003 Jul 24; 22(30):4636-41. View Abstract
  56. A 3' enhancer in the IL-4 gene regulates cytokine production by Th2 cells and mast cells. Immunity. 2002 Jul; 17(1):41-50. View Abstract
  57. Th2 lineage commitment and efficient IL-4 production involves extended demethylation of the IL-4 gene. Immunity. 2002 May; 16(5):649-60. View Abstract
  58. Cell-type-restricted binding of the transcription factor NFAT to a distal IL-4 enhancer in vivo. Immunity. 2000 Jun; 12(6):643-52. View Abstract
  59. Chromatin-based regulatory mechanisms governing cytokine gene transcription. J Allergy Clin Immunol. 1999 Jun; 103(6):990-9. View Abstract
  60. Regulation of cytokine gene expression during T cell differentiation. 1999. View Abstract
  61. Modulation of chromatin structure regulates cytokine gene expression during T cell differentiation. Immunity. 1998 Dec; 9(6):765-75. View Abstract
  62. Long-range transcriptional regulation of cytokine gene expression. Curr Opin Immunol. 1998 Jun; 10(3):345-52. View Abstract
  63. Genetic-based strategies for control of HIV-1: Tat and Rev as targets. . Drug News and Perspectives. 1996; 9(4):220-227. View Abstract

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