EDUCATION

Medical School

  • Harvard Medical School , 2010 , Boston , MA

Internship

Pediatrics
  • Boston Children’s Hospital/Boston Medical Center , 2011 , Boston , MA

Residency

Pediatrics
  • Boston Children’s Hospital/Boston Medical Center , 2013 , Boston , MA

Fellowship

Pediatric Hematology-Oncology
  • Dana-Farber Cancer Institute and Boston Children’s Hospital , 2015 , Boston , MA

PROFESSIONAL HISTORY

Dr. Sankaran is a physician-scientist focused on caring for patients with non-malignant hematologic disorders with a special interest in diseases of red blood cell production and hemoglobin disorders. Dr. Sankaran’s laboratory uses human genetics to understand blood cell production, hemoglobin gene regulation, and how this goes awry in disease. Dr. Sankaran’s laboratory website is: http://bloodgenes.org.

 

Dr. Sankaran serves as an expert for the Department of Hematology-Nonmalignant for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.

CERTIFICATIONS

  • American Board of Pediatrics, General Pediatrics
  • American Board of Pediatrics, Pediatric Hematology and Oncology

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. CUT&RUNTools 2.0: A pipeline for single-cell and bulk-level CUT&RUN and CUT&Tag data analysis. Bioinformatics. 2021 Jul 09. View abstract
  2. Deciphering transcriptional and functional heterogeneity in hematopoiesis with single-cell genomics. Curr Opin Hematol. 2021 Jul 01; 28(4):269-276. View abstract
  3. Longitudinal single-cell dynamics of chromatin accessibility and mitochondrial mutations in chronic lymphocytic leukemia mirror disease history. Cancer Discov. 2021 Jun 10. View abstract
  4. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med. 2021 Jun 07; 218(6). View abstract
  5. Scalable, multimodal profiling of chromatin accessibility, gene expression and protein levels in single cells. Nat Biotechnol. 2021 Jun 03. View abstract
  6. I SPI1 something needed for B cells. J Exp Med. 2021 Jul 05; 218(7). View abstract
  7. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Haematologica. 2021 05 01; 106(5):1303-1310. View abstract
  8. Survival and causes of death in 2033 patients with non-transfusion-dependent ß-thalassemia. Haematologica. 2021 Apr 22. View abstract
  9. Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2021 Mar; 591(7851):E27. View abstract
  10. Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Ann Clin Transl Neurol. 2021 03; 8(3):716-722. View abstract
  11. CD11c regulates hematopoietic stem and progenitor cells under stress. Blood Adv. 2020 12 22; 4(24):6086-6097. View abstract
  12. Long-Term Patient-Customized Therapy for a Pathogenic EPO Mutation. Med (N Y). 2021 Jan 15; 2(1):33-37.e1. View abstract
  13. Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia. Sci Transl Med. 2020 10 21; 12(566). View abstract
  14. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 10; 586(7831):763-768. View abstract
  15. Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells. Nature. 2020 10; 586(7831):769-775. View abstract
  16. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147(2):520-531. View abstract
  17. Unraveling Hematopoiesis through the Lens of Genomics. Cell. 2020 09 17; 182(6):1384-1400. View abstract
  18. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell. 2020 09 03; 182(5):1214-1231.e11. View abstract
  19. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. Cell. 2020 09 03; 182(5):1198-1213.e14. View abstract
  20. Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells. N Engl J Med. 2020 10 15; 383(16):1556-1563. View abstract
  21. Massively parallel single-cell mitochondrial DNA genotyping and chromatin profiling. Nat Biotechnol. 2021 04; 39(4):451-461. View abstract
  22. Sowing the Seeds of Clonal Hematopoiesis. Cell Stem Cell. 2020 08 06; 27(2):195-197. View abstract
  23. In The Blood: Connecting Variant to Function In Human Hematopoiesis. Trends Genet. 2020 08; 36(8):563-576. View abstract
  24. COVID-19 presenting with autoimmune hemolytic anemia in the setting of underlying immune dysregulation. Pediatr Blood Cancer. 2020 09; 67(9):e28382. View abstract
  25. Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction. J Clin Immunol. 2020 05; 40(4):554-566. View abstract
  26. Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation. Nat Genet. 2020 02; 52(2):138-145. View abstract
  27. From blood development to disease: a paradigm for clinical translation. Dis Model Mech. 2020 01 09; 13(1). View abstract
  28. Stabilizing HIF to Ameliorate Anemia. Cell. 2020 01 09; 180(1):6. View abstract
  29. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. J Clin Invest. 2020 Jan 02; 130(1):552. View abstract
  30. Longitudinal assessment of clonal mosaicism in human hematopoiesis via mitochondrial mutation tracking. Blood Adv. 2019 12 23; 3(24):4161-4165. View abstract
  31. Antidiabetic Activity of Gold Nanoparticles Synthesized Using Wedelolactone in RIN-5F Cell Line. Antioxidants (Basel). 2019 Dec 21; 9(1). View abstract
  32. The genetics of human hematopoiesis and its disruption in disease. EMBO Mol Med. 2019 08; 11(8):e10316. View abstract
  33. Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia. Pediatr Blood Cancer. 2019 09; 66(9):e27874. View abstract
  34. Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis. Cell Rep. 2019 06 11; 27(11):3228-3240.e7. View abstract
  35. A chance encounter changes everything. Nat Med. 2019 06; 25(6):869. View abstract
  36. Topological control of cytokine receptor signaling induces differential effects in hematopoiesis. Science. 2019 05 24; 364(6442). View abstract
  37. Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis. Elife. 2019 05 09; 8. View abstract
  38. Phloretin loaded chitosan nanoparticles enhance the antioxidants and apoptotic mechanisms in DMBA induced experimental carcinogenesis. Chem Biol Interact. 2019 Aug 01; 308:11-19. View abstract
  39. HRI coordinates translation necessary for protein homeostasis and mitochondrial function in erythropoiesis. Elife. 2019 04 29; 8. View abstract
  40. Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation. J Exp Med. 2019 05 06; 216(5):1050-1060. View abstract
  41. Deubiquitylase USP7 regulates human terminal erythroid differentiation by stabilizing GATA1. Haematologica. 2019 11; 104(11):2178-2187. View abstract
  42. Interrogation of human hematopoiesis at single-cell and single-variant resolution. Nat Genet. 2019 04; 51(4):683-693. View abstract
  43. Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics. Cell. 2019 03 07; 176(6):1325-1339.e22. View abstract
  44. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2019 Feb 07; 104(2):356. View abstract
  45. Heritability of fetal hemoglobin, white cell count, and other clinical traits from a sickle cell disease family cohort. Am J Hematol. 2019 05; 94(5):522-527. View abstract
  46. A mummy emerges from the grave: Scurvy confounding the clinical presentation of a child with Fanconi anemia. Am J Hematol. 2019 04; 94(4):506-507. View abstract
  47. Pharmacological Aspects and Potential Use of Phloretin: A Systemic Review. Mini Rev Med Chem. 2019; 19(13):1060-1067. View abstract
  48. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 12 06; 103(6):930-947. View abstract
  49. A chance to cut (the genome) is a chance to cure. Blood. 2018 04 26; 131(17):1884-1885. View abstract
  50. Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research. Circ Genom Precis Med. 2018 04; 11(4):e002178. View abstract
  51. Common a-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease. PLoS Genet. 2018 03; 14(3):e1007293. View abstract
  52. Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 translation. J Clin Invest. 2018 04 02; 128(4):1597-1614. View abstract
  53. Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis. Cell. 2018 03 22; 173(1):90-103.e19. View abstract
  54. Thrombopoietin: tickling the HSC's fancy. EMBO Mol Med. 2018 01; 10(1):10-12. View abstract
  55. Whole-exome sequencing identifies an a-globin cluster triplication resulting in increased clinical severity of ß-thalassemia. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6). View abstract
  56. Developmentally-faithful and effective human erythropoiesis in immunodeficient and Kit mutant mice. Am J Hematol. 2017 Sep; 92(9):E513-E519. View abstract
  57. Confounding in ex vivo models of Diamond-Blackfan anemia. Blood. 2017 08 31; 130(9):1165-1168. View abstract
  58. Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. Cell. 2017 03 09; 168(6):1053-1064.e15. View abstract
  59. Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. Proc Natl Acad Sci U S A. 2017 01 17; 114(3):E327-E336. View abstract
  60. Unexpected role for p19INK4d in posttranscriptional regulation of GATA1 and modulation of human terminal erythropoiesis. Blood. 2017 01 12; 129(2):226-237. View abstract
  61. Emerging cellular and gene therapies for congenital anemias. Am J Med Genet C Semin Med Genet. 2016 12; 172(4):332-348. View abstract
  62. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 09 01; 99(3):785. View abstract
  63. Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations. Blood. 2016 10 20; 128(16):2100-2103. View abstract
  64. A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult. Blood Cells Mol Dis. 2016 10; 61:46-7. View abstract
  65. The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. Nat Commun. 2016 08 10; 7:12353. View abstract
  66. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 08 04; 99(2):481-8. View abstract
  67. Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. Cold Spring Harb Mol Case Stud. 2016 Jul; 2(4):a000885. View abstract
  68. Adenosine-to-inosine RNA editing by ADAR1 is essential for normal murine erythropoiesis. Exp Hematol. 2016 10; 44(10):947-63. View abstract
  69. Development of autologous blood cell therapies. Exp Hematol. 2016 10; 44(10):887-94. View abstract
  70. Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. Cell. 2016 Jun 02; 165(6):1530-1545. View abstract
  71. Defining the Minimal Factors Required for Erythropoiesis through Direct Lineage Conversion. Cell Rep. 2016 06 14; 15(11):2550-62. View abstract
  72. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. Cold Spring Harb Mol Case Stud. 2016 May; 2(3):a000786. View abstract
  73. Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. Proc Natl Acad Sci U S A. 2016 Apr 19; 113(16):4434-9. View abstract
  74. Regulation of the fetal hemoglobin silencing factor BCL11A. Ann N Y Acad Sci. 2016 03; 1368(1):25-30. View abstract
  75. Advances in understanding erythropoiesis: evolving perspectives. Br J Haematol. 2016 Apr; 173(2):206-18. View abstract
  76. Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization. J Mol Diagn. 2016 Jan; 18(1):92-9. View abstract
  77. Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis-what patients can teach us about blood cell production. Pediatr Res. 2016 Mar; 79(3):366-70. View abstract
  78. Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells. Cell Stem Cell. 2016 Jan 07; 18(1):73-78. View abstract
  79. Inducible Gata1 suppression expands megakaryocyte-erythroid progenitors from embryonic stem cells. J Clin Invest. 2015 Jun; 125(6):2369-74. View abstract
  80. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. J Clin Invest. 2015 Jun; 125(6):2363-8. View abstract
  81. Anemia: progress in molecular mechanisms and therapies. Nat Med. 2015 Mar; 21(3):221-30. View abstract
  82. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. J Clin Invest. 2015 Apr; 125(4):1665-9. View abstract
  83. Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis. Am J Hematol. 2015 May; 90(5):386-91. View abstract
  84. Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation. PLoS Genet. 2014 Dec; 10(12):e1004890. View abstract
  85. Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014 Jul; 20(7):748-53. View abstract
  86. Transcriptional divergence and conservation of human and mouse erythropoiesis. Proc Natl Acad Sci U S A. 2014 Mar 18; 111(11):4103-8. View abstract
  87. Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. Blood. 2013 Nov 28; 122(23):3845-7. View abstract
  88. Stimulating erythropoiesis in neonates. Am J Hematol. 2013 Nov; 88(11):930-1. View abstract
  89. Applications of high-throughput DNA sequencing to benign hematology. Blood. 2013 Nov 21; 122(22):3575-82. View abstract
  90. Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis. Curr Opin Genet Dev. 2013 Jun; 23(3):339-44. View abstract
  91. Clinical experience with fetal hemoglobin induction therapy in patients with ß-thalassemia. Blood. 2013 Mar 21; 121(12):2199-212; quiz 2372. View abstract
  92. The switch from fetal to adult hemoglobin. Cold Spring Harb Perspect Med. 2013 Jan 01; 3(1):a011643. View abstract
  93. Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number. Genes Dev. 2012 Sep 15; 26(18):2075-87. View abstract
  94. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012 Jul; 122(7):2439-43. View abstract
  95. MicroRNAs in erythroid and megakaryocytic differentiation and megakaryocyte-erythroid progenitor lineage commitment. Leukemia. 2012 Nov; 26(11):2310-6. View abstract
  96. Fetal hemoglobin levels and morbidity in untransfused patients with ß-thalassemia intermedia. Blood. 2012 Jan 12; 119(2):364-7. View abstract
  97. Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. Science. 2011 Nov 18; 334(6058):993-6. View abstract
  98. A functional element necessary for fetal hemoglobin silencing. N Engl J Med. 2011 Sep 01; 365(9):807-14. View abstract
  99. Persistence of fetal hemoglobin expression in an older child with trisomy 13. J Pediatr. 2012 Feb; 160(2):352. View abstract
  100. Heterozygous disruption of human SOX6 is insufficient to impair erythropoiesis or silencing of fetal hemoglobin. Blood. 2011 Apr 21; 117(16):4396-7. View abstract
  101. Erythropoietin couples erythropoiesis, B-lymphopoiesis, and bone homeostasis within the bone marrow microenvironment. Blood. 2011 May 26; 117(21):5631-42. View abstract
  102. MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13. Proc Natl Acad Sci U S A. 2011 Jan 25; 108(4):1519-24. View abstract
  103. Targeted therapeutic strategies for fetal hemoglobin induction. Hematology Am Soc Hematol Educ Program. 2011; 2011:459-65. View abstract
  104. Therapeutic levels of fetal hemoglobin in erythroid progeny of ß-thalassemic CD34+ cells after lentiviral vector-mediated gene transfer. Blood. 2011 Mar 10; 117(10):2817-26. View abstract
  105. Reversing the hemoglobin switch. N Engl J Med. 2010 Dec 02; 363(23):2258-60. View abstract
  106. Thalassemia: an overview of 50 years of clinical research. Hematol Oncol Clin North Am. 2010 Dec; 24(6):1005-20. View abstract
  107. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet. 2010 Dec; 42(12):1049-51. View abstract
  108. Modifier genes in Mendelian disorders: the example of hemoglobin disorders. Ann N Y Acad Sci. 2010 Dec; 1214:47-56. View abstract
  109. Hemoglobin disorders in the developing world: a perspective from Sri Lanka. Am J Hematol. 2010 Sep; 85(9):732. View abstract
  110. Transcriptional silencing of fetal hemoglobin by BCL11A. Ann N Y Acad Sci. 2010 Aug; 1202:64-8. View abstract
  111. Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6. Genes Dev. 2010 Apr 15; 24(8):783-98. View abstract
  112. Advances in the understanding of haemoglobin switching. Br J Haematol. 2010 Apr; 149(2):181-94. View abstract
  113. Developmental and species-divergent globin switching are driven by BCL11A. Nature. 2009 Aug 27; 460(7259):1093-7. View abstract
  114. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science. 2008 Dec 19; 322(5909):1839-42. View abstract
  115. Rb and hematopoiesis: stem cells to anemia. Cell Div. 2008 Sep 08; 3:13. View abstract
  116. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11869-74. View abstract
  117. Conditional mouse osteosarcoma, dependent on p53 loss and potentiated by loss of Rb, mimics the human disease. Genes Dev. 2008 Jun 15; 22(12):1662-76. View abstract
  118. Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis. Genes Dev. 2008 Feb 15; 22(4):463-75. View abstract
  119. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A. 2008 Feb 05; 105(5):1620-5. View abstract
  120. High-affinity binding of a FYVE domain to phosphatidylinositol 3-phosphate requires intact phospholipid but not FYVE domain oligomerization. Biochemistry. 2001 Jul 24; 40(29):8581-7. View abstract
  121. Structural basis for discrimination of 3-phosphoinositides by pleckstrin homology domains. Mol Cell. 2000 Aug; 6(2):373-84. View abstract