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Vijay Sankaran, MD, PhD
Attending Physician, Dana-Farber/Boston Children's Cancer and Blood Disorders Center
Jan Ellen Paradise, MD Professor of Pediatrics, Harvard Medical School
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Vijay Sankaran, MD, PhD
Attending Physician, Dana-Farber/Boston Children's Cancer and Blood Disorders Center
Jan Ellen Paradise, MD Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Tamil
Education
Medical School
Harvard Medical School
2010
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
Media
Research
Gene therapy for sickle cell disease: The journey to a new treatment
Certifications
American Board of Pediatrics (General)
American Board of Pediatrics (Hematology-Oncology)
Professional History
Dr. Sankaran is a physician-scientist focused on caring for patients with a variety of blood disorders. Dr. Sankaran’s laboratory uses human genetics to understand blood and immune cell production in health and 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.
Publications
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. View Abstract
Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes. View Abstract
Inherited resilience to clonal hematopoiesis by modifying stem cell RNA regulation. View Abstract
The bleeding edge: broadening horizons for hematopoietic stem cell therapies. View Abstract
A torpor-like state in mice slows blood epigenetic aging and prolongs healthspan. View Abstract
Path of differentiation defines human macrophage identity. View Abstract
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. View Abstract
CEBPA repression by MECOM blocks differentiation to drive aggressive leukemias. View Abstract
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. View Abstract
Evolution of myeloproliferative neoplasms from normal blood stem cells. View Abstract
Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss. View Abstract
Disease background influences fate of transplanted stem cells. View Abstract
Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia. View Abstract
Human Plasma Proteomic Profile of Clonal Hematopoiesis. View Abstract
Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas. View Abstract
Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes. View Abstract
Robustness and reliability of single-cell regulatory multi-omics with deep mitochondrial mutation profiling. View Abstract
Genetic drivers and cellular selection of female mosaic X chromosome loss. View Abstract
Genome Sequencing for Diagnosing Rare Diseases. View Abstract
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. View Abstract
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. View Abstract
A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children. View Abstract
A torpor-like state (TLS) in mice slows blood epigenetic aging and prolongs healthspan. View Abstract
A guideline on the molecular ecosystem regulating ferroptosis. View Abstract
Deciphering cell states and genealogies of human haematopoiesis. View Abstract
Inherited blood cancer predisposition through altered transcription elongation. View Abstract
What approaches are needed to understand human development and disease? View Abstract
Systematic investigation of mitochondrial transfer between cancer cells and T cells at single-cell resolution. View Abstract
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. View Abstract
Getting an aMPLe grasp on hematopoiesis. View Abstract
Shared and distinct genetic etiologies for different types of clonal hematopoiesis. View Abstract
Author Correction: Massively parallel single-cell mitochondrial DNA genotyping and chromatin profiling. View Abstract
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology. View Abstract
RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation. View Abstract
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. View Abstract
Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19. View Abstract
MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development. View Abstract
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells. View Abstract
Massively parallel base editing to map variant effects in human hematopoiesis. View Abstract
Perspectives of Rare Disease Experts on Newborn Genome Sequencing. View Abstract
Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes. View Abstract
CD11c regulates neutrophil maturation. View Abstract
Fetal Hemoglobin Regulation in Beta-Thalassemia. View Abstract
Thalassemia. View Abstract
Genetic regulation of fetal hemoglobin across global populations. View Abstract
RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation. View Abstract
Hacking hematopoiesis - emerging tools for examining variant effects. View Abstract
Human hematopoietic stem cell vulnerability to ferroptosis. View Abstract
Mitochondrial single-cell ATAC-seq for high-throughput multi-omic detection of mitochondrial genotypes and chromatin accessibility. View Abstract
Structural variation across 138,134 samples in the TOPMed consortium. View Abstract
Exploiting somatic mutations to decipher human blood production: a natural lineage-tracing strategy. View Abstract
Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection. View Abstract
Structural variation across 138,134 samples in the TOPMed consortium. View Abstract
A genetic disorder reveals a hematopoietic stem cell regulatory network co-opted in leukemia. View Abstract
Author Correction: Functional dissection of inherited non-coding variation influencing multiple myeloma risk. View Abstract
Development of a Thalassemia International Prognostic Scoring System (TIPSS). View Abstract
Vade-MECOM: How to peel back the layers of hematopoiesis. View Abstract
Influences of rare copy-number variation on human complex traits. View Abstract
Cellular barcoding to decipher clonal dynamics in disease. View Abstract
Multi-omics on our multitudes. View Abstract
Inferring gene regulation from stochastic transcriptional variation across single cells at steady state. View Abstract
Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits. View Abstract
Variant to function mapping at single-cell resolution through network propagation. View Abstract
Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype. View Abstract
Molecular and cellular mechanisms that regulate human erythropoiesis. View Abstract
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1. View Abstract
Patchwork Cancer Predisposition. View Abstract
Genome-wide association study on 13?167 individuals identifies regulators of blood CD34+cell levels. View Abstract
A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome. View Abstract
Genetic Examination of Hematological Parameters in SARS-CoV-2 Infection and COVID-19. View Abstract
Mitochondrial variant enrichment from high-throughput single-cell RNA sequencing resolves clonal populations. View Abstract
Clonal hematopoiesis in sickle cell disease. View Abstract
Mapping transcriptomic vector fields of single cells. View Abstract
Super interactive promoters provide insight into cell type-specific regulatory networks in blood lineage cell types. View Abstract
Variant to function mapping at single-cell resolution through network propagation. View Abstract
Functional dissection of inherited non-coding variation influencing multiple myeloma risk. View Abstract
CUT&RUNTools 2.0: a pipeline for single-cell and bulk-level CUT&RUN and CUT&Tag data analysis. View Abstract
Risk of mortality from anemia and iron overload in nontransfusion-dependent ß-thalassemia. View Abstract
Longitudinal Single-Cell Dynamics of Chromatin Accessibility and Mitochondrial Mutations in Chronic Lymphocytic Leukemia Mirror Disease History. View Abstract
Primary HBB gene mutation severity and long-term outcomes in a global cohort of ß-thalassaemia. View Abstract
Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing. View Abstract
From GWAS variant to function: A study of ~148,000 variants for blood cell traits. View Abstract
Survival and causes of death in 2,033 patients with non-transfusion-dependent ß-thalassemia View Abstract
A unified model of human hemoglobin switching through single-cell genome editing. View Abstract
Deciphering transcriptional and functional heterogeneity in hematopoiesis with single-cell genomics. View Abstract
Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. View Abstract
Scalable, multimodal profiling of chromatin accessibility, gene expression and protein levels in single cells. View Abstract
I SPI1 something needed for B cells. View Abstract
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. View Abstract
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes. View Abstract
Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. View Abstract
CD11c regulates hematopoietic stem and progenitor cells under stress. View Abstract
Long-Term Patient-Customized Therapy for a Pathogenic EPO Mutation. View Abstract
Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia. View Abstract
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells. View Abstract
Inherited causes of clonal haematopoiesis in 97,691 whole genomes. View Abstract
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. View Abstract
Unraveling Hematopoiesis through the Lens of Genomics. View Abstract
Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. View Abstract
The Polygenic and Monogenic Basis of Blood Traits and Diseases. View Abstract
Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells. View Abstract
Massively parallel single-cell mitochondrial DNA genotyping and chromatin profiling. View Abstract
Sowing the Seeds of Clonal Hematopoiesis. View Abstract
In The Blood: Connecting Variant to Function In Human Hematopoiesis. View Abstract
COVID-19 presenting with autoimmune hemolytic anemia in the setting of underlying immune dysregulation. View Abstract
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction. View Abstract
Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation. View Abstract
Stabilizing HIF to Ameliorate Anemia. View Abstract
From blood development to disease: a paradigm for clinical translation. View Abstract
X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. View Abstract
Longitudinal assessment of clonal mosaicism in human hematopoiesis via mitochondrial mutation tracking. View Abstract
Antidiabetic Activity of Gold Nanoparticles Synthesized Using Wedelolactone in RIN-5F Cell Line. View Abstract
The genetics of human hematopoiesis and its disruption in disease. View Abstract
Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia. View Abstract
Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis. View Abstract
A chance encounter changes everything. View Abstract
Topological control of cytokine receptor signaling induces differential effects in hematopoiesis. View Abstract
Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis. View Abstract
Phloretin loaded chitosan nanoparticles enhance the antioxidants and apoptotic mechanisms in DMBA induced experimental carcinogenesis. View Abstract
HRI coordinates translation necessary for protein homeostasis and mitochondrial function in erythropoiesis. View Abstract
Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation. View Abstract
Deubiquitylase USP7 regulates human terminal erythroid differentiation by stabilizing GATA1. View Abstract
Interrogation of human hematopoiesis at single-cell and single-variant resolution. View Abstract
Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics. View Abstract
The Genetic Landscape of Diamond-Blackfan Anemia. View Abstract
Heritability of fetal hemoglobin, white cell count, and other clinical traits from a sickle cell disease family cohort. View Abstract
A mummy emerges from the grave: Scurvy confounding the clinical presentation of a child with Fanconi anemia. View Abstract
Pharmacological Aspects and Potential Use of Phloretin: A Systemic Review. View Abstract
The Genetic Landscape of Diamond-Blackfan Anemia. View Abstract
A chance to cut (the genome) is a chance to cure. View Abstract
Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research. View Abstract
Common a-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease. View Abstract
Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 translation. View Abstract
Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis. View Abstract
Thrombopoietin: tickling the HSC's fancy. View Abstract
Whole-exome sequencing identifies an a-globin cluster triplication resulting in increased clinical severity of ß-thalassemia. View Abstract
Developmentally-faithful and effective human erythropoiesis in immunodeficient and Kit mutant mice. View Abstract
Confounding in ex vivo models of Diamond-Blackfan anemia. View Abstract
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. View Abstract
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. View Abstract
Unexpected role for p19INK4d in posttranscriptional regulation of GATA1 and modulation of human terminal erythropoiesis. View Abstract
Emerging cellular and gene therapies for congenital anemias. View Abstract
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. View Abstract
Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations. View Abstract
A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult. View Abstract
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. View Abstract
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. View Abstract
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. View Abstract
Adenosine-to-inosine RNA editing by ADAR1 is essential for normal murine erythropoiesis. View Abstract
Development of autologous blood cell therapies. View Abstract
Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. View Abstract
Defining the Minimal Factors Required for Erythropoiesis through Direct Lineage Conversion. View Abstract
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. View Abstract
Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. View Abstract
Regulation of the fetal hemoglobin silencing factor BCL11A. View Abstract
Advances in understanding erythropoiesis: evolving perspectives. View Abstract
Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization. View Abstract
Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis-what patients can teach us about blood cell production. View Abstract
Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells. View Abstract
Inducible Gata1 suppression expands megakaryocyte-erythroid progenitors from embryonic stem cells. View Abstract
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. View Abstract
Anemia: progress in molecular mechanisms and therapies. View Abstract
X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. View Abstract
Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis. View Abstract
Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation. View Abstract
Altered translation of GATA1 in Diamond-Blackfan anemia. View Abstract
Transcriptional divergence and conservation of human and mouse erythropoiesis. View Abstract
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. View Abstract
Stimulating erythropoiesis in neonates. View Abstract
Applications of high-throughput DNA sequencing to benign hematology. View Abstract
Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis. View Abstract
Clinical experience with fetal hemoglobin induction therapy in patients with ß-thalassemia. View Abstract
The switch from fetal to adult hemoglobin. View Abstract
Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number. View Abstract
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. View Abstract
MicroRNAs in erythroid and megakaryocytic differentiation and megakaryocyte-erythroid progenitor lineage commitment. View Abstract
Fetal hemoglobin levels and morbidity in untransfused patients with ß-thalassemia intermedia. View Abstract
Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. View Abstract
A functional element necessary for fetal hemoglobin silencing. View Abstract
Persistence of fetal hemoglobin expression in an older child with trisomy 13. View Abstract
Heterozygous disruption of human SOX6 is insufficient to impair erythropoiesis or silencing of fetal hemoglobin. View Abstract
Erythropoietin couples erythropoiesis, B-lymphopoiesis, and bone homeostasis within the bone marrow microenvironment. View Abstract
MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13. View Abstract
Targeted therapeutic strategies for fetal hemoglobin induction. View Abstract
Therapeutic levels of fetal hemoglobin in erythroid progeny of ß-thalassemic CD34+ cells after lentiviral vector-mediated gene transfer. View Abstract
Reversing the hemoglobin switch. View Abstract
Thalassemia: an overview of 50 years of clinical research. View Abstract
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. View Abstract
Modifier genes in Mendelian disorders: the example of hemoglobin disorders. View Abstract
Hemoglobin disorders in the developing world: a perspective from Sri Lanka. View Abstract
Transcriptional silencing of fetal hemoglobin by BCL11A. View Abstract
Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6. View Abstract
Advances in the understanding of haemoglobin switching. View Abstract
Developmental and species-divergent globin switching are driven by BCL11A. View Abstract
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. View Abstract
Rb and hematopoiesis: stem cells to anemia. View Abstract
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. View Abstract
Conditional mouse osteosarcoma, dependent on p53 loss and potentiated by loss of Rb, mimics the human disease. View Abstract
Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis. View Abstract
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. View Abstract
High-affinity binding of a FYVE domain to phosphatidylinositol 3-phosphate requires intact phospholipid but not FYVE domain oligomerization. View Abstract
Structural basis for discrimination of 3-phosphoinositides by pleckstrin homology domains. View Abstract