Information

Related Research Units

Intellectual and Developmental Disabilities Research Center Research
F.M. Kirby Neurobiology Center

Research Overview

At Boston Children’s Hospital, I serve as the Manager of the IDDRC Mouse Gene Manipulation Core, which generates mouse models for human intellectual and developmental disorders. I have 25 years of experience in all aspects of generation of mouse models, teaching to empower basic and advanced techniques, and adapting new technologies to implement services. My goal is to generate mouse models for human diseases utilizing traditional transgenic and gene targeting techniques, as well as genome editing by CRISPR/Cas9 tools, to generate precise modifications with a focus on cancer and neurological diseases. In my early career, I studied the role of a complex cell surface carbohydrate in an induced hepatoma model and, subsequently, created a mouse model to identify mutants of the RARa gene fused with PML, PLZF, and NuMA in leukemogenesis and utilized these variants in clinical trials. Thereafter, I focused on transgenic technology by joining the Memorial Sloan-Kettering Cancer Center (MSKCC) Mouse Genetics Core Facility, then I established and successfully directed the transgenic core for more than 11 years at Cancer Institute of New Jersey.

My work focused on the Mgat3 gene, which was reported to exhibit elevated expression in hepatoma; I created mouse model to study the role of this gene in DEN induced hepatoma. In my studies of promyelocytic leukemia in mouse models and specifically mutants of the RAR? gene fused with PML, PLZF, and NuMA genes, I identified regions of the RAR? gene required to be leukemic. These variants were used for a clinical trial utilizing Arsenic trioxide for remission of leukemia. At the MSKCC transgenic core, I methodically generated standard operating procedures to eliminate variations for BAC transgenic, DNA and ES microinjection, cryopreservation of sperm and embryos, IVF of fresh and frozen sperm, rederivation of contaminated strains, and automated DNA preparation. Later, I also established the Transgenic and Knockout Resource at the Cancer Institute of NJ, where I generated mouse models for Cancer Center Investigators, including training and consultation in construct design, oversight of daily operations of DNA and ES cell microinjection, rederivation of imported or in-house strains, cryopreservation of embryos and sperm, fiscal budget and expense recovery, and annual reporting for the Cancer Center Support Grant. Under my direction, the Core extended services to Rutgers, Princeton University, and NJ Medical School. I founded a cryo-bank for mouse ES cell lines, embryos, and sperm available for the University. In addition to research, I also have 8 years of experience in teaching basic and advanced transgenic techniques at Rutgers University.

Research Background

Education:

  • 1981 - BSc, Zoology (Honors), Botany, Chemistry University of Calcutta
  • 1984 - MSc, Zoology, Specialization in Cytology & Genetics University of Calcutta
  • 1991 - PhD, Molecular Biology/Parasitology Indian Institute of Chemical Biology/Jadavpur University

Postdoctoral Training:

  • 01/92-05/98 - Research Associate Gene targeting & Transgenic mouse model/Cell Biology (Dr. P. Stanley) Albert Einstein College of Medicine
  • 06/98-12/99 - Sr. Research Associate Gene targeting & Transgenic mouse model/Human genetics (Dr.P.P.Pandolfi) Memorial Sloan- Kettering Cancer Center

Faculty Appointments:

  • 4/04-6/15 Assistant Professor Pediatrics Robert Wood Johnson Medical School

Other Professional Positions:

  • 01/00-03/04 - Scientist/Research Specialist Memorial Sloan-Kettering Cancer Center, New York
  • 04/04-06/09 -Manager – Transgenic Core Cancer Institute of New Jersey/University of Medicine & Dentistry of New Jersey
  • 07/09-06/15 - Associate Director –Transgenic Core Rutgers Cancer Institute of New Jersey, New Jersey
  • 9/1/15-Present - Principal Associate, Dept. of Neurology Harvard Medical School
  • 9/1/15- Present - Assistant Director- Gene Manipulation Core IDDRC/Boston Children’s Hospital
  • 9/1/15-Present - Research Associate, Dept. of Neurology Boston Children’s Hospital

Major Administrative Leadership Positions:

  • 07/09-06/15 - Associate Director Transgenic & Knockout Mouse Core -Rutgers Cancer Institute of New Jersey

Selected Publications

  1. Beck, A.J., Vitale, M.V., Zhao, Q. Schneider, J.S. Chang, C., Altaf, A., Michaels, J., Bhaumik M., Grange, R and Fraidenraich, D. (2011). Differential Requirement for Utrophin in the Induced Pluripotent Stem Cell Correction of Muscle versus Fat in Muscular Dystrophy Mice. PLos ONE. May 16, Vol 6, Issue 5.
  2. Lu,H,. huang,Y-Y.,Mehrotra, S., Droz-Rosario., Liu,J., Bhaumik.M., White,E and Shen, Z. (2011). Essential Roles of BCCIP in Mouse Embryonic Development and Structural Stability of Chromosomes. PLoS ONE. Sept. Vol.7, Issue 9.
  3. Vitale JM, Schneider JS, Beck AJ, Zhao Q, Chang C, Gordan R, Michaels J, Bhaumik M, and Fraidenraich D. (2012).Dystrophin compromised-sarcoglycan-? knockout diaphragm requires full wild type embryonic stem cell reconstitution for correction. J. Cell Science. Feb10 (Epub).
  4. Gurkan S, Cabinian A, Lopez V, Bhaumik M, Chang JM, Rabson AB, Mundel P. (2013). “Inhibition of type I IFN signaling prevents TLR ligand mediated proteinuria”, Journal of Pathology, Oct;231(2):248-56.
  5. Hao H, Li Y, Tzatzalos E, Gilbert J, Zala D, Bhaumik M and Cai L. (2014). Identification of a transient Sox5 expressing progenitor population in the neonatal ventral forebrain by a novel cis-regulatory element. Developmental Biology. Jun 19. pii: S0012-1606(14)00306-6.
  6. Simadri S, Peterson S, Patel D, Hua H, Cai H, Bowman-Colin C, Miller S, Ludwig T, Ganesan S, Bhaumik M, Bunting S,Jasin M and Xia B. (2014) Male fertility defect associated with disrupted BRCA1-PALB2 interaction in mice. J Biol Chem, Jul 11, pii: jbc.M114.566141.
  7. Granier CJ,Wang W,Tsang T,Steward R, Sabaawy HE, Bhaumik M and Rabson AB.(2014). Conditional Inactivation of PDCD2 Induces p53 Activation and 4 Cell Cycle Arrest. BIOLOPEN/2014/008326
  8. Sunderram J, Semmlow J, Patel P, Rao H, Chun G, Agarwala P, Bhaumik M, Le-Hoang O, Lu SE, Neubauer JA. (2016). Heme oxygenase-1 Dependent Central Cardiorespiratory Adaptations to Chronic Intermittent Hypoxia in Mice.
  9. J Appl Physiol (1985). 2016 Sep 8:jap.00036.2016. doi:10.1152/japplphysiol.00036.2016.
  10. Gonzalez JP, Kyrychenko S, Kyrychenko V, Schneider JS, Granier CJ, Himelman E, Lahey KC, Zhao Q, Yehia G, Tao YX, Bhaumik M, Shirokova N, Fraidenraich D. (2016). Small Fractions of Muscular Dystrophy Embryonic Stem Cells Yield Severe Cardiac and Skeletal Muscle Defects in Adult Mouse Chimeras. Stem Cells. 2016 Oct 13. doi: 10.1002/stem.2518. [Epub ahead of print]
  11. Thuronyi BW, Koblan LW, Levy JM, Yeh WH, Zheng C, Newby GA, Wilson C, Bhaumik M, Shubina-Oleinik O, Holt JR, Liu DR. Continuous evolution of base editors with expanded target compatibility and improved activity. Nat Biotechnol. 2019 Jul 22. doi: 10.1038/s41587-019-0193-0. [Epub ahead of print]

Publications

  1. Specialized pericyte subtypes in the pulmonary capillaries. EMBO J. 2025 Jan 13. View Abstract
  2. Generation of an Armcx1 Conditional Knockout Mouse. Genesis. 2024 Aug; 62(4):e23615. View Abstract
  3. Spontaneous Development of Hepatocellular Carcinoma and B-Cell Lymphoma in Mosaic and Heterozygous Brca2 and Cdkn1a Interacting Protein Knockout Mice. Am J Pathol. 2020 06; 190(6):1175-1187. View Abstract
  4. Publisher Correction: Continuous evolution of base editors with expanded target compatibility and improved activity. Nat Biotechnol. 2019 09; 37(9):1091. View Abstract
  5. Continuous evolution of base editors with expanded target compatibility and improved activity. Nat Biotechnol. 2019 09; 37(9):1070-1079. View Abstract
  6. Small Fractions of Muscular Dystrophy Embryonic Stem Cells Yield Severe Cardiac and Skeletal Muscle Defects in Adult Mouse Chimeras. Stem Cells. 2017 03; 35(3):597-610. View Abstract
  7. Heme oxygenase-1-dependent central cardiorespiratory adaptations to chronic intermittent hypoxia in mice. J Appl Physiol (1985). 2016 10 01; 121(4):944-952. View Abstract
  8. Conditional inactivation of PDCD2 induces p53 activation and cell cycle arrest. Biol Open. 2014 Aug 22; 3(9):821-31. View Abstract
  9. Male fertility defect associated with disrupted BRCA1-PALB2 interaction in mice. J Biol Chem. 2014 Aug 29; 289(35):24617-29. View Abstract
  10. Identification of a transient Sox5 expressing progenitor population in the neonatal ventral forebrain by a novel cis-regulatory element. Dev Biol. 2014 Sep 01; 393(1):183-93. View Abstract
  11. Inhibition of type I interferon signalling prevents TLR ligand-mediated proteinuria. J Pathol. 2013 Oct; 231(2):248-56. View Abstract
  12. Dystrophin-compromised sarcoglycan-d-knockout diaphragm requires full wild-type embryonic stem cell reconstitution for correction. J Cell Sci. 2012 Apr 01; 125(Pt 7):1807-13. View Abstract
  13. Essential roles of BCCIP in mouse embryonic development and structural stability of chromosomes. PLoS Genet. 2011 Sep; 7(9):e1002291. View Abstract
  14. Injection of wild type embryonic stem cells into Mst1 transgenic blastocysts prevents adult-onset cardiomyopathy. Stem Cell Rev Rep. 2011 Jun; 7(2):326-30. View Abstract
  15. Differential requirement for utrophin in the induced pluripotent stem cell correction of muscle versus fat in muscular dystrophy mice. PLoS One. 2011; 6(5):e20065. View Abstract
  16. Deficiency of the dual ubiquitin/SUMO ligase Topors results in genetic instability and an increased rate of malignancy in mice. BMC Mol Biol. 2010 Apr 29; 11:31. View Abstract
  17. Heme oxygenase-1-dependent central cardiorespiratory adaptations to chronic hypoxia in mice. Am J Physiol Regul Integr Comp Physiol. 2009 Aug; 297(2):R300-12. View Abstract
  18. Blastocyst injection of wild type embryonic stem cells induces global corrections in mdx mice. PLoS One. 2009; 4(3):e4759. View Abstract
  19. In vivo analysis of the role of aberrant histone deacetylase recruitment and RAR alpha blockade in the pathogenesis of acute promyelocytic leukemia. J Exp Med. 2006 Apr 17; 203(4):821-8. View Abstract
  20. The SUMO pathway is essential for nuclear integrity and chromosome segregation in mice. Dev Cell. 2005 Dec; 9(6):769-79. View Abstract
  21. Myeloid leukemia with promyelocytic features in transgenic mice expressing hCG-NuMA-RARalpha. Oncogene. 2004 Jan 22; 23(3):665-78. View Abstract
  22. Truncated, inactive N-acetylglucosaminyltransferase III (GlcNAc-TIII) induces neurological and other traits absent in mice that lack GlcNAc-TIII. J Biol Chem. 2002 Jul 19; 277(29):26300-9. View Abstract

Contact Mantu Bhaumik

Phone: 617-919-2128
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