Black Family Stem Cell Institute

BFSCI Faculty

The Black Family Stem Cell Institute is home to an exceptional team of researchers who are committed to identifying entirely new approaches for treating human disease.

Julio Aguirre-Ghiso

Julio Aguirre-Ghiso, PhD, is a Professor at the Icahn School of Medicine at Mount Sinai in the Division of Hematology and Oncology in the Departments of Medicine, Otolaryngology, and Oncological Sciences; the Research Leader of the Metastasis Treatment Center and Co-leader of the Cancer Mechanisms Program at The Tisch Cancer Institute, an NCI-designated center, and Director of Head and Neck Cancer Basic Research in the Department of Otolaryngology. He focuses on one of the major challenges faced by physicians: prevention and treatment of metastasis, which is the main reason for cancer mortality. Cancer patients presumed cured after primary tumor removal and therapy can carry non-proliferating ‘dormant’ disseminated tumor cells (DTCs) for years before reactivating to form incurable metastasis. Dr. Aguirre-Ghiso’s work focuses on understanding the biology of residual cancer cells that persist in a dormant state after initial therapy. His team led a paradigm shift revealing novel cancer biology that diverges from the notion that cancer is perpetually proliferating. They discovered that reciprocal crosstalk between DTCs and the microenvironment regulates the inter-conversion between dormancy and proliferation. This knowledge will allow targeting minimal residual disease before it becomes clinically detectable, and thus preventing recurrences.

Ongoing research interests include:

  • Exploring mechanisms controlling residual cancer dormancy
  • Researching approaches to target dormant cancer cells
  • Identifying markers to determine whether disseminated disease cells are dormant or active

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Tim D. Ahfeldt, PhD

Tim Ahfeldt, PhD, is an Assistant Professor in the Nash Family Department of Neuroscience at the Icahn School of Medicine at Mount Sinai, the Ronald M. Loeb Center for Alzheimer’s disease, and The Friedman Brain Institute. Dr. Ahfeldt’s research asks why some cells are more vulnerable to neurodegenerative disease than others. Developing new tools to address this question will aid us in understanding pathological mechanisms and advancing pharmacological interventions. Human pluripotent stem cells (hPSCs), which can be differentiated into all cell types, provide an unparalleled system for studying human neurodegenerative diseases in vitro. For example, Parkinson’s disease (PD) is characterized by the almost complete loss of midbrain dopaminergic neurons in the substantia nigra pars compacta, while the closest relatives in the ventral tegmental area are relatively spared. Using CRISPR gene editing techniques, we have developed several isogenic hPSCs models of PD. Our data suggest that our PD model recapitulates disease aspects found in vivo as we observe selective vulnerability in differentiated midbrain dopaminergic neurons in PD lines, providing us with an opportunity to address the question of specific cell type vulnerability in a novel way.

Ongoing research interests include:

  • Determining how disease genotype impacts phenotype and affects specific cell-types
  • Identifying disease relevant common and unique pathways in order to uncover new therapeutic targets

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Margaret H. Baron, MD, PhD

Margaret H. Baron, MD, PhD, is the Irene and Arthur M. Fishberg Professor of Medicine and Professor of Cell, Developmental and Regenerative Biology, and Oncological Sciences at the Icahn School of Medicine at Mount Sinai. She is also Senior Associate Dean for MD/PhD Education and Director of the Medical Scientist Training Program (MSTP, MD/PhD programs). Her laboratory's research focuses on basic mechanisms in mammalian blood cell (hematopoietic) development. Researchers used transgenic mouse reporter lines to image, purify, and generate transcriptomes from the earliest (primitive) blood progenitors and their descendants and showed that the canonical Wnt/b-catenin signaling pathway plays a role in regulation of the emergence and maturation of primitive erythroid (red blood cell, RBC) progenitors. In contrast, the vitamin D receptor (VDR) nuclear hormone transcription factor gene is expressed in fetal and adult but not embryonic erythroid progenitors and is downregulated during maturation. Activation of VDR signaling by its ligand vitamin D stimulates the growth of erythroid progenitors, resulting in a large increase in the numbers of mature RBCs. Activation of VDR can partially substitute for and synergize with the stress glucocorticoid dexamethasone to enhance progenitor proliferation, suggesting a role in stress erythropoiesis.

Dr. Baron is also conducting RNA-seq analysis to identify signaling pathways and regulators that function downstream of VDR signaling. Such studies have the potential to identify new therapeutic targets for treatment of anemias and other blood disorders.

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Emily Bernstein, PhD

Emily Bernstein, PhD, is a Professor of Oncological Sciences and Dermatology at the Icahn School of Medicine at Mount Sinai and co-leader of the Cancer Mechanisms Program of The Tisch Cancer Institute, an NCI-designated center. She also organizes numerous epigenetics events including Mount Sinai’s Chromatin Club. Her team studies epigenetic mechanisms underlying normal development and cancer with a focus on histone variant proteins that replace canonical histones within the nucleosome core particle. Histone variants are specialized in function and represent an important layer of regulation to diversify the structural characteristics and functional outputs of chromatin. Her laboratory discovered a key role for H2A histone variants such as macroH2A and H2A.Z in melanoma malignancy and reprogramming towards pluripotency.

Ongoing research interests include:

  • Investigating histone variant-deficient mice in normal development, stem cell populations, and tumor initiation/progression
  • Understanding the role of the epigenome and non-coding DNA elements in cancer progression and drug resistance
  • Modeling pediatric cancer mutations in chromatin factors by directed differentiation protocols of human pluripotent stem cells

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James J. Bieker, PhD

James J. Bieker, PhD, is a Professor in the Department of Cell, Developmental, and Regenerative Biology at the Icahn School of Medicine at Mount Sinai. The laboratory's interest is in the transcriptional regulation of red blood cell-specific gene expression, and in identifying the molecular events that confer the ability to express lineage-specific genes in uncommitted, pluripotent hematopoietic stem cells. These issues are being addressed by the functional analysis of a novel, erythroid-specific gene that the Bieker Laboratory identified a number of years ago named erythroid Krüppel-like factor; EKLF. Biochemical, molecular, cellular, developmental, and genetic studies in mice and humans have established that EKLF is an essential component required for globin switching and completion of the definitive erythroid program.

Using our model system, we aim to disentangle genotype from phenotype and cell-type and identify disease relevant common and unique pathways that hold promise for future therapies.

Ongoing research interests include:

  • Analyzing EKLF protein/protein interactions and how they result in altered transcriptional and epigenetic changes at target loci
  • Determining how molecular controls converge to regulate late events in erythropoiesis, particularly enucleation
  • Analyzing EKLF upstream regulators to explain its exquisite tissue-restricted expression pattern, and to possibly link alteration of its expression level to aberrant red cell biology
  • Determining the mechanism by which a human mutation in EKLF leads to congenital dyserythropoietic anemia.

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Timothy A. Blenkinsop, PhD

Timothy A. Blenkinsop, PhD, is an Assistant Professor in the Department of Cell, Development, and Regenerative Biology at the Icahn School of Medicine at Mount Sinai, as well as member of the Ophthalmology Department, the Black Family Stem Cell Institute, and Mount Sinai’s Eye and Vision Research Institute. His team is interested in understanding human retina development in normal and pathological situations, as well as in modeling in vitro various eye diseases. The lab’s primary interest lies in retina stem cell biology, cell replacement therapy, and endogenous retina regeneration potential. The lab uses adult human tissues and pluripotent stem cells-derived differentiated cells to probe retina physiology and model diseases such as age-related macular degeneration, proliferative vitreoretinopathy, and proliferative diabetic retinopathy. The main goal is to identify epigenetic regulation of cell plasticity for stimulating it with therapeutic benefit, while also modeling diseases where plasticity leads to disease.

Ongoing research interests include:

  • Exploring signaling transduction pathways involved in retinal pigment epithelium plasticity
  • Exploring cell replacement therapy for age-related macular degeneration
  • Researching cell fate specification of developing human eye field

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Kristen Brennand, PhD

Kristen Brennand, PhD, is an Associate Professor of Genetics and Genomics, Neuroscience, and Psychiatry at the Icahn School of Medicine at Mount Sinai. She trained in developmental and stem cell biology at Harvard University and in neuroscience during her postdoctoral studies at the Salk Institute for Biological Studies. By blending expertise in stem cell biology and neurobiology, she has pioneered a new approach to study psychiatric disease. By developing a G16 based model for the study of predisposition to neuropsychiatric disease, and combining it with CRISPR-based genomic engineering, the Brennand Laboratory has established a new approach by which to systematically test the impact of causal variants in human cells. The future of psychiatry requires a model of precision medicine, in which doctors consider how the patient’s genetic variants—and the many interactions among them—affect disease course and treatment response before prescribing any medication.

Ongoing research interests include:

  • Understanding the genetic mechanisms underlying schizophrenia
  • Developing personalized screening platforms to identify new therapeutics for the treatment of this debilitating disorder

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Joseph Castellano

Joseph Castellano, PhD is an Assistant Professor of Neuroscience and Neurology and member of the Friedman Brain Institute and the Ronald M. Loeb Center for Alzheimer’s disease at the Icahn School of Medicine at Mount Sinai. Understanding the mechanism by which aging acts as a major risk factor for neurodegenerative disorders is critical as the aging population increases in the coming decades. Recent work has demonstrated that age-related changes in neural cells of the neurogenic niche within hippocampus are regulated by cues present in the systemic environment. Research in the Castellano laboratory is focused on understanding the molecular mechanisms underlying such blood-CNS communication, as well as the extent to which this communication shapes development of brain neuropathology in neurodegenerative diseases. Towards the goal of developing novel therapies that exploit this putative communication, the laboratory is interested in identifying and defining youth-associated activities that can rescue aspects of Alzheimer’s-related pathology. The Castellano laboratory specializes in a wide range of genetic tools in mouse models to answer complex physiological and compartmental questions related to brain function. Multiple levels of analysis are incorporated in the laboratory’s experimental aims, including editing in cell culture, human disease modeling in mice via viral-mediated and cell transfer tools, and cognitive behavioral assays. A focused goal of the group is to characterize the mechanism by which novel blood-borne factors mediate changes in function in the hippocampus.

Ongoing research interests include:

  • Characterizing mechanism of action of blood-borne factors within hippocampus
  • Understanding the role of genetic risk factors in regulating blood-brain communication in the context of disease.
  • creation of novel humanized mouse models to understand neuroimmune function in the context of disease pathology.

Bo Chen

Bo Chen, PhD, is an Associate Professor in Ophthalmology at the Icahn School of Medicine at Mount Sinai and Director of the Ocular Stem Cell Program in the Department of Ophthalmology at the Icahn School of Medicine at Mount Sinai and New York Eye and Ear Infirmary of Mount Sinai. The Chen Laboratory is focusing on mechanistic and therapeutic studies of retinal degenerative diseases typically characterized by the loss of photoreceptors and retinal ganglion cells. The diseases studied include age-related macular degeneration, retinitis pigmentosa, and glaucoma. In developing treatments for these degenerative conditions, Dr. Chen’s laboratory employs neural regenerative and protective research strategies to generate new retinal neurons and to save existing retinal neurons, respectively.

Ongoing research interests include:

  • Defining intrinsic signaling pathways and transcription control in Müller glial cells (MGs) and reprogramming them in vivo to generate MG-derived retinal stem cells capable of differentiating to new photoreceptors
  • Investigating the molecular mechanisms underlying histone deacetylase 4 (HDAC4)-mediated photoreceptor protection using animal models of retinal degenerative diseases
  • Exploring the functional role of calcium signaling in damaged ganglion cells (the primary cell type affected in glaucoma) and their axons

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Marion Dejosez, PhD

Marion Dejosez, PhD, is an Assistant Professor in the Department of Cell, Developmental, and Regenerative Biology at the Icahn School of Medicine at Mount Sinai. She serves as Associate Director for the Huffington Center for Cell-Based Research in Parkinson’s Disease. Dr. Dejosez obtained her master’s degree in genetics from the University of Cologne and her PhD in cancer biology from the University of Dusseldorf. She trained as a postdoctoral fellow at the Center for Gene and Cell Therapy at Baylor College of Medicine in stem cell biology. During this time she discovered Ronin, a novel factor essential for embryogenesis and ES cell pluripotency (Cell, 2008, G&D 2010). She became an Assistant Professor in the Department of Molecular and Human Genetics in 2008 and subsequently directed the Stem Cell Core Facility at Baylor. In collaboration with the Zwaka Laboratory. She identified genes that safeguard stem cell growth in mouse embryogenesis (Science, 2013). She joined the faculty of Mount Sinai in 2013 where her studies continued to focus on understanding the molecular mechanisms that underlie embryonic stem cell pluripotency, self-renewal, and differentiation, with special emphasis on hematopoiesis and neurogenesis. Her research seeks to identify pathways that contribute to stem cell identity, and to understand their importance in tissue homeostasis and disease.

Ongoing research interests include:

  • Exploring Ronin’s contribution to genome organization in stem cells and their derivatives
  • Investigating Ronin’s function in hematopoiesis
  • Understanding the molecular mechanisms that contribute to neurodegenerative, diseases including ataxia and Parkinson’s disease using brain organoid and mouse models

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Nicole C. Dubois, PhD

Nicole Dubois, PhD, received her PhD in Cell and Developmental Biology from the Swiss Institute for Experimental Cancer Research and the University of Lausanne with Andreas Trumpp, PhD. She did her postdoctoral training in the laboratory of Gordon Keller, PhD, at the University Health Network in Toronto with a focus on pluripotent stem cell biology and their differentiation to cardiovascular lineages. She is currently an Associate Professor in the Department of Cell, Developmental, and Regenerative Biology at the Icahn School of Medicine at Mount Sinai, the Black Family Stem Cell Institute, and the Mindich Child Health and Development Institute. Dr. Dubois' group studies early heart development and congenital heart disease using pluripotent stem cell differentiations and the mouse embryo as model systems.

Ongoing research interests include:

  • Understanding the molecular mechanisms of atrial-ventricular development
  • Exploring pluripotent stem cell differentiation to cardiovascular lineages
  • Looking at cardiac maturation and tissue engineering
  • Investigating long non-coding RNAs during cardiac development
  • Exploring cardiac toxicity of cancer drugs (LINCS project)

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Elena Ezhkova, PhD

Elena Ezhkova, PhD, is an Associate Professor in the Cell, Developmental, and Regenerative Biology Department. Her laboratory implements an array of powerful cellular and high-throughput molecular biology tools to dissect how epigenetic gene regulators, specifically the polycomb repressive complexes 1 and 2 (PRC1 and PRC2), play a role in cell fate determination, homeostasis, and regeneration. Her lab has recently showed that PRC1 functions both as a transcriptional repressor and as a transcriptional activator during skin development. Importantly, PRC1-mediated gene activating functions are critical for hair follicle development and for the establishment of the adult bulge stem cell compartment. Identification of these molecular mechanisms that control cell fate determination, commitment, and differentiation aids in expanding our understanding of tissue development and the progression of various tissue disorders, including cancer. 

Ongoing research interests include:

  • Uncovering the molecular mechanism of PRC-mediated gene regulation in skin development, homeostasis, and regeneration
  • Dissecting the canonical and non-canonical PRC function in different epithelial tissues, including skin and oral epithelia
  • Uncovering the molecular mechanisms controlling Merkel cell development and maintenance and Merkel cell carcinoma formation

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Bruce D. Gelb, MD

Bruce Gelb, MD, is the Gogel Family Professor of Child Health and Development and Professor of Pediatrics and Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, and he directs the Mindich Child Health and Development Institute. He is a co-leader of a National Heart, Lung, and Blood Institute-funded training program in molecular and cellular cardiology. Dr. Gelb’s research group studies the genetic causes of cardiovascular diseases of childhood, particularly focusing on congenital heart defects and inherited disorders of the Ras/microtubule-associated protein (MAP) kinase signal transduction pathway (called RASopathies). His group, working with the then Black Family Stem Cell Institute Director, Ihor Lemischka, PhD, generated the first human induced pluripotent stem cell (hiPSC) model of a cardiovascular trait (hypertrophic cardiomyopathy for Noonan syndrome with multiple lentigines).

Ongoing research interests include:

  • Understanding the pathogenesis of hypertrophic cardiomyopathy for RASopathies
  • Discovering novel therapies for hypertrophic cardiomyopathy for RASopathies
  • Understanding congenital heart defect pathogenesis due to histone modifier mutations

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Saghi Ghaffari, MD, PhD, is a Professor of Cell, Developmental, and Regenerative Biology and a member of The Tisch Cancer Institute. Her lab studies mechanisms that sustain blood forming stem and progenitor cells (HSPCs) throughout life and that are perturbed in disease. Her team is particularly interested in programs that maintain quiescence of blood-forming stem cells, a property that determines the potency and overall regenerative capacity of adult stem cells and that is lost with age. Quiescence is also a mechanism by which malignant stem cells resist therapy. To attain this goal, the Ghaffari Laboratory has been investigating metabolic and mitochondrial-related programs and organelle communications in young and aged HSPCs. The Ghaffari lab uses a variety of approaches, including various omics, super resolution imaging, and gene modulation technology combined with genetically modified mouse models and human cells to address these questions.

Ongoing research interests include:

  • Investigating mechanisms that control mitochondria-lysosome communication in normal mouse and human hematopoietic stem cells (HSCs) in aged HSCs and in leukemic stem cells
  • Exploring transcriptional and epigenetic programs that regulate organelle biogenesis in HSPCs and their alteration with age
  • Investigating metabolic and redox regulation of erythroid cell maturation and identifying mechanisms and components of mitochondria-nucleus communication during this process
  • Elucidating mechanisms of apoptosis in beta-thalassemia

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Ernesto Guccione, PhD

Ernesto Guccione, PhD, is an Associate Professor of Oncological Sciences, and Pharmacological Sciences at the Icahn School of Medicine at Mount Sinai. His team studies transcriptional and post-transcriptional mechanisms regulating development and cancer with a focus on mammalian protein methyltransferases and the function of alternative splicing. The team uses biochemistry, mouse models, next generation sequencing and splice switching antisense oligonucleotide (AON)-based approaches to understand the molecular mechanisms of action of candidate PMTs or specific isoforms. The range of techniques and approaches used in the lab has allowed researchers to characterize the mechanism of action of specific PMTs (e.g., PRMT5 and PRDM15) or oncogenic isoforms (e.g., MDM4l/s), which are of great interest for their clinical applications.

Ongoing research interests include:

  • Investigating the role of PRMTs and PRDMs in normal development, stem cell populations, and tumor initiation/progression
  • Using AON-based approaches to uncover the function of specific alternative splicing isoforms
  • Exploring use of pharmacogenomic approaches to identify new therapies for hematological and solid tumors

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Woojin M. Han

Woojin M. Han, PhD, is an Assistant Professor in the Department of Orthopaedics at the Icahn School of Medicine at Mount Sinai. Dr. Han completed his PhD in bioengineering at the University of Pennsylvania, and his postdoctoral training at the Georgia Institute of Technology. The Han Laboratory develops cell-instructive biomaterials to systematically study how stem cells interact with their surrounding niche in regulating tissue pathophysiology, with a primary focus on skeletal muscle stem (satellite) cells and fibro/adipogenic progenitors. His team also focuses on establishing regenerative therapies for treating injuries and diseases of the musculoskeletal system by harnessing cell-matrix interactions. Dr. Han has previously engineered a synthetic cell-instructive matrix for facilitating the transplantation and engraftment of muscle stem cells in the context of muscle injury and Duchenne muscular dystrophy. By independently tuning multiple material properties through parametric design, Dr. Han and his team has successfully developed a fully synthetic cell delivery platform conducive to muscle stem cell survival, proliferation, migration, and differentiation for targeting limb muscle trauma and dystrophic diaphragms. His research program will continue to integrate multidisciplinary bioengineering concepts to pioneer new technologies for dissecting stem cell-niche interactions and advancing regenerative therapies for musculoskeletal injuries and disorders.

Ongoing research interests include:

  • Engineering niche-mimetic designer platforms to direct muscle stem cell polarity, division, and fate determination for ex vivo muscle stem cell maintenance, expansion, and manufacturing.
  • Understanding the roles of niche-derived biophysical and biochemical cues in regulating muscle stem cell polarity, fate determination, and mechanotransduction in development, aging, and diseases.
  • Developing cell-instructive biomaterials and therapies to treat skeletal muscle injuries and disorders.

Ronald Hoffman, MD, is the Albert A. and Vera G. List Professor of Medicine at the Icahn School of Medicine at Mount Sinai. He is a member of The Tisch Cancer Institute. His team has two areas of interest. One deals with the expansion of the number of marrow repopulating cells present in cord blood for transplantation into humans undergoing allogeneic stem cell transplantation for refractory hematological malignancies. This expansion strategy uses histone deacetylase inhibitors. The team is attempting to understand the mechanism underlying this ex vivo stem cell expansion technology, and is actively evaluating the clinical potential of this expanded cell product in a phase I clinical trial. The second area of interest deals with the blood cancer myelofibrosis. Dr. Hoffman and his team are characterizing the malignant myelofibrosis stem cells and their progeny and the consequence of their interactions with the marrow and splenic microenvironments. With this growing body of information the group is identifying novel agents to deplete myelofibrosis stem cells. These agents are currently being evaluated in a series of phase I/II clinical trials in a clinical consortium including 11 institutions in the United States and Canada, headed by Dr. Hoffman.

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Robert A Krauss, PhD

Robert Krauss, PhD, is a Professor of Cell, Developmental, and Regenerative Biology at the Icahn School of Medicine at Mount Sinai and Co-director of the Development, Regeneration, and Stem Cells training area for graduate students. His lab is interested in how niche-derived signals regulate stem cell function, using the skeletal muscle lineage as a model system. His lab showed that cadherins are niche factors that promote quiescence of skeletal muscle stem cells under homeostatic conditions, and regulate activation of these cells in response to injury, thereby facilitating tissue regeneration. His lab uses a variety of approaches, including mouse genetics and molecular cell biology, to address questions about how the muscle stem cell niche is constructed, maintained, and functions. The Krauss Laboratory also studies the Nodal and Hedgehog signaling pathways and how deficiency in these pathways results in the common birth defect, holoprosencephaly.

Ongoing research interests include:

  • Exploring how cadherins regulate cytoskeletal architecture in muscle stem cells to provide structural integrity, mechanosensation, and cell polarity
  • Identifying and analyzing the components of the adherens junction formed between muscle stem cells and their major niche cell, the myofiber
  • Modeling the complex etiology of holoprosencephaly in mice
  • Assessing functional consequences of human mutations involved in holoprosencephaly

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Florence Marlow, PhD

Florence Marlow, PhD, is an Associate Professor of Cell, Developmental, and Regenerative Biology, Co-director of the Development, Regeneration, and Stem Cells training area for graduate students, and an Associate Director for the Medical Scientist Training Program, all at the Icahn School of Medicine at Mount Sinai. Her team uses genetic, molecular, cell biological, and embryological approaches to investigate the molecular pathways and cell biological events that regulate specification and maintenance of the germline and that maintain polarity and function in oocytes and in neurons. Her lab identified RNAbps that interact with a key regulator of oocyte polarity and identified novel factors required for sex-specific differentiation of germline cells.

Ongoing research interests include:

  • Determining how RNAbps control sex-specific differentiation of germline stem cells
  • Performing genetic and cell biological analyses of the specialized cell divisions of germline stem cells and their immediate daughters
  • Exploring how RNAbps regulate buckyball and oocyte polarity
  • Analyzing mitochondrial bottlenecks in the germline
  • Studying microglia involvement in shaping neural circuits underlying complex behaviors in juveniles and adults

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Samuele G. Marro

Samuele G. Marro, PhD, is an Assistant Professor in the Nash Family Department of Neuroscience and co-Director of the Stem Cell Engineering Core at the Icahn School of Medicine at Mount Sinai. His research team focuses on the regulation of synaptic plasticity and its dysfunction in Fragile X syndrome, the number one genetic cause of autism. To accomplish this, the group studies human neurons directly differentiated from pluripotent stem cells that are genetically modified using CRISPR/Cas9 tools. The institutional Stem Cell Engineering Core itself provides services and resources at a reduced cost to the Icahn School of Medicine community that include the derivation of iPS from patient blood samples; iPS differentiation into different cell types; and gene-editing to create or repair putative disease mutations.

      

Ongoing research interests include:

  • Investigating protein homeostasis in human neurons
  • Exploring epigenetic regulation of synaptic plasticity
  • Understanding and correcting the epigenetic silencing in Fragile X syndrome

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The primary research areas for Madhu Mazumdar, PhD, are the application and development of optimal research methodology for design and analysis of clinical trials; laboratory-based experimental studies; comparative and cost-effectiveness research studies; and systematic reviews and meta-analyses in the fields of oncology, radiology, anesthesiology, surgery, neurology, geriatrics, and hospital epidemiology. She also develops novel methodology and adopts emergent methodologies as the collaborative research demands. She co-leads many multidisciplinary teams spread across multiple units that identify more effective treatments while determining ways to reduce unnecessary health care resource utilization. Each team includes trainees who she co-mentors using the principle of team science. At the Institute for Healthcare Delivery Science, she works with a group of approximately 20 quantitative, qualitative, and informatics researchers along with about 100 front-line physicians who are evaluating effectiveness of quality improvement programs (e.g., delirium management, delivering medicines to bedside before discharge, control of infection such as sepsis, C. diff, CAUTI through multi-faceted intervention); measuring comparative and cost-effectiveness of standard versus novel treatment pathways; and guiding health care usage of radiology, pathology, laboratory test, and pharmaceutical products towards their ‘appropriate’ use. This line of research guides clinical practice and modifies provider behavior in a natural way.

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Sarah E. Millar

Sarah E. Millar, PhD, is Director of the Black Family Stem Cell Institute, and Lillian and Henry M. Stratton Professorial Chair in the Departments of Cell, Developmental, and Regenerative Biology, and Dermatology at the Icahn School of Medicine at Mount Sinai. Understanding the molecular and cellular mechanisms regulating the development, patterning, and postnatal renewal of the skin and ectodermal appendage organs such as hair follicles, teeth, and taste papillae, and identifying stem and progenitor cell populations in these organs, is critical for developing new therapies to accelerate wound healing, treat hair loss diseases, repair or replace diseased teeth, and ameliorate taste dysfunction. Research in the Millar Laboratory focuses on cell-cell signaling and epigenetic mechanisms that underlie these processes. In published research, researchers identified Wnt/beta-catenin signaling as a key pathway required for initiating the formation of ectodermal appendages from multipotent cells in mammalian embryos, and in controlling development and patterning of haired versus hairy skin. By analyzing genetic mouse models and tissues from human patients carrying mutations in the WNT10A gene, we showed that Wnt signaling plays a key role in regulating the functions of a wide variety of adult epithelial stem cells, as well as in controlling specialized differentiation programs in palmoplantar skin. We have also identified critical functions for epigenetic regulators including micro-RNAs and chromatin modifiers in skin development and regeneration.

Ongoing research interests include:

  • Investigating mechanisms that cause ectodermal dysplasia in patients with mutations in the WNT10A gene, and testing potential therapeutic strategies
  • Determining the mechanisms that underlie the formation and maintenance of hairy versus hairless skin and regulate hair patterning
  • Delineating the functions of histone deacetylase chromatin modifiers in skin development, stem cells, and cancer
  • Identifying pioneer transcription factors that control development and stem cell activity in skin and oral epithelia

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Marek Mlodzik, PhD

Marek Mlodzik, PhD is Professor and Chair of Cell, Developmental, and Regenerative Biology, and Professor in the Departments of Oncological Sciences and Ophthalmology.  He is also on the IAB of the Tisch Cancer Institute, and organizes several cell signaling events in NYC. His team studies the mechanisms of the Wnt and Notch signaling pathways with specific focus on the role of Wnt-signaling in the planar cell polarity (PCP) pathway in normal organogenesis and patterning and disease contexts, including cancer, neural tube closure defects, and ciliopathies.  The Wnt/PCP pathway and Wnt signaling in general are critical in many stem cell niche interactions and stem cell maintenance. The lab uses primarily the Drosophila model for in vivo studies and mammalian cell based work for functional biochemical assays. His lab is the leader in the Wnt-PCP field, both in normal patterning as well as in functional disease dissections.

Ongoing research interests include:

  • Investigating the regulatory interactions among the core PCP signaling factors and associated cell adhesion behavior
  • Dissecting the process of nuclear translocation of beta-catenin in Wnt-signaling
  • Modeling the complex functional behavior of neural tube closure defect patients in PCP establishment in Drosophila
  • Understanding novel regulatory inputs to Notch signaling and associated read-outs

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Kateri Moore, DVM

Kateri Moore, DVM, is a Professor in Cell, Developmental, and Regenerative Biology at the Icahn School of Medicine at Mount Sinai and a member of The Tisch Cancer Institute. Her research is focused on both normal and reprogrammed hematopoietic stem cells (HSCs). To study normal hematopoiesis, she uses mouse models that allow her to define the characteristics of temporally defined quiescent HSCs during homeostasis. She researches perturbed hematopoiesis and aging HSCs using this model. These studies have implications for understanding the ability of leukemic stem cells and other tumor initiating cells to mimic normal stem cells and remain quiescent, thus evading current therapies. Her lab has reported direct reprogramming of mouse and human fibroblasts into hematopoietic cells using transcription factors. Insights gained during the reprogramming studies have led to the prospective isolation of the immediate precursor cell that give rise to definitive HSC during embryonic development. These studies have broad applications to cancers of the blood and immune system and others that require a stem cell transplant.

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Eirini Papapetrou, MD, PhD

Eirini Papapetrou, MD, PhD, is an Associate Professor of Oncological Sciences, Hematology, and Medical Oncology at the Icahn School of Medicine at Mount Sinai; and Associate Director of the Pluripotent Stem Cell Engineering Core. Her laboratory pioneered the modeling of blood cancers with human-induced pluripotent stem cell (iPSC). Specifically, her lab developed the first iPSC models of myeloid malignancies, including myelodysplastic syndromes and acute myeloid leukemia by reprogramming patient cells and by correcting and introducing mutations using CRISPR/Cas9-mediated gene editing. Dr. Papapetrou’s research program combines techniques and principles from stem cell research, cancer biology, and hematopoiesis with the goal of understanding disease mechanisms and identifying new therapeutic targets for hematologic malignancies. The unifying theme of the lab’s projects is the creation of genetically precise isogenic iPSC models of myeloid cancers and exploitation of the unique capabilities they offer for genotype-to-phenotype studies, interrogation of the effects of oncogenic mutations with integrative genomics analyses in a faithful cellular and genomic environment and genetic (CRISPR), and small molecule screens for drug repurposing or drug discovery. Dr. Papapetrou is the recipient of several awards, including the American Society of Gene and Cell Therapy Outstanding New Investigator Award, Damon Runyon-Rachleff Innovation Award, American Society of Hematology Scholar Award, Pershing Square Sohn Prize, and Leukemia and Lymphoma Society Scholar award, among others. She is an elected member of the American Society for Clinical Investigation.

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Michael Rendl

Michael Rendl, MD, is a Professor of Cell, Developmental, and Regenerative Biology and Dermatology at the Icahn School of Medicine at Mount Sinai; Director of the NYSTEM Training Program in Stem Cell Biology; and Associate Director of the Black Family Stem Cell Institute. His team studies the formation and function of stem cell niches, using hair follicle formation during skin development and adult hair growth and regeneration as a model system. Dermal papilla (DP) cells are specialized mesenchymal niche cells that instruct hair follicle stem cells and progenitors. His laboratory discovered embryonic DP precursors, defined molecular signatures of embryonic and mature DP cells, and established the essential roles of Wnt signaling and the transcription factor Sox2 for DP functions. The lab has uncovered the DP-related dermal sheath (DS) as a key niche component for hair cycle progression and progenitor pruning, essential for the next wave of stem cell activation. Overall, insights from these studies reveal mechanisms on how stem cell niches function and provide a platform for developing hair regenerative therapies.

Ongoing research interests include:

  • Understanding the molecular controls that regulate DP niche fate and function
  • Investigating DP signals that regulate stem cell and progenitor functions
  • Dissecting DS cellular and molecular mechanisms of hair cycle regulation

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Christoph Schaniel, PhD

Christoph Schaniel, PhD, is an Assistant Professor in the Department of Pharmacological Sciences, the Department of Cell, Developmental and Regenerative Biology, and a member of the Mount Sinai Institute for System Biomedicine. His research is centered on understanding the cellular and molecular nature of hematopoietic stem cells (HSCs) in health and disease. He helped develop a clinical ex vivo expansion and cryopreservation process of umbilical cord blood HSCs for allogenic stem cell transplantation in refractory hematological malignancies that is being evaluated in a clinical trial (in collaboration with Ronald Hoffman, MD, and Camelia Iancu-Rubin, PhD). Additionally, he is investigating the mechanism and clinical applicability of direct reprogramming of HSCs from somatic cells for cell replacement therapies (together with Kateri A. Moore, DVM). Other research focuses on the effect of valproic acid on normal vs. malignant HSCs, the underlying pathologies of hematological malignancies and cancers using human primary stem cells, and induced pluripotent stem cells (PSCs). He is also invested in various projects aimed at understanding the mechanisms of cardiovascular diseases and drug action, responses, and toxicity in individuals using induced PSCs with the goal of advancing and developing precise and personalized therapeutic treatments.

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Robert Sebra, PhD

Robert Sebra, PhD, is an Associate Professor in the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai and Director of Technology Development and the Genomics Core Facility for the Icahn Institute for Data Science and Genomic Technology. His research lab centers on creating and applying bulk and single cell molecular methods to generate highly resolved data using genomics technology for variant discovery and annotation. This research integrates single molecular and cellular genomics data with assays to assess chromatin accessibility, proteomics, and epigenetics data to decipher factors of pathogenesis versus normal cellular functions. Determining which cellular niches and mechanisms in complex primary tissues drive disease or resilience facilitates translation of functional genomics data using model systems for screening possible downstream regenerative and therapeutic potential using high throughput methods.

Ongoing research interests include:

  • Developing novel molecular methods and genome sequencing technologies
  • Advancing high-throughput functional genomics
  • Exploring whole genome and repeat content characterization for disease association
  • Analyzing surveillance and genomic characterization of pathogen transmission
  • Using genomics to temporally characterize development and pathogenesis
  • Translating genomic data in various oncologic diseases including gynecologic and breast cancers

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Christopher M. Sturgeon

Christopher M. Sturgeon is an Associate Professor at the Icahn School of Medicine at Mount Sinai. Chris’s lab studies the development of the human hematopoietic system, using the in vitro differentiation of human pluripotent stem cells (hPSC) as a model system. The ability to differentiate hPSC towards a bona fide hematopoietic stem cell (HSC) would be a major step forward for the treatment of patients in need of a suitable donor match. Similarly, hPSCs offer unprecedented access to early embryonic hematopoietic lineages, which may have untapped clinical potential. To harness these possibilities, it is essential to be able to direct the differentiation of hPSCs in a controlled fashion. To that end, Chris’s research has developed defined media approaches, coupled with staged addition of recombinant morphogens such as BMP, WNT, and RA, to recapitulate these early embryonic developmental stages.

Ongoing research interests include:

  • Investigating the molecular mechanisms of hematopoietic development and the immediate precursor to the HSC, hemogenic endothelium
  • Characterizing the translational potential of HSC-independent immune lineages
  • Identifying the developmental trajectory of nascent mesoderm as it differentiates towards blood
  • Understanding the role of RNA splicing in embryonic hematopoiesis

Julie Teruya-Feldstein

Julie Teruya-Feldstein, MD is Director of Hematopathology at the Icahn School of Medicine at Mount Sinai and Mount Sinai Health System.  Understanding the molecular and cellular mechanisms regulating development, growth, of hematopoietic stem cells is critical for developing new therapies and understanding their role after transplantation, immunotherapy and CAR T cell therapy.  The Feldstein Laboratory is defining cellular and immunologic molecular mechanisms into the pathogenesis of hematopoietic cells in the quest for targeted therapeutics of hematologic neoplasms.

 

 

Ongoing research interests include:

  • Defining cellular and immunologic molecular mechanisms into the pathogenesis of hematopoietic cells in the quest for targeted therapeutics of hematologic neoplasms.
  • Biomarkers for diagnosis, prognosis, therapeutic targets, minimal residual disease, role of the bone marrow microenvironment
  • Digital pathology imaging as a tool for research, educational, and clinical purposes
  • Peripheral responses after immunomodulatory therapies

Alexander M. Tsankov

Alexander M. Tsankov, PhD, is an Assistant Professor in Genetics and Genomic Sciences at Icahn School of Medicine at Mount Sinai. He completed his PhD in electrical engineering and computer science at MIT and his postdoctoral training at the Broad Institute and Harvard University (Alex Meissner and Aviv Regev’s lab). The Tsankov lab overall vision is to use genomics to build data-driven, predictive models that improve diagnosis, find new drug-able pathways, and personalize treatment of patients with lung cancer and respiratory diseases. The lab specializes in next generation sequencing (NGS) technologies (e.g. single-cell transcriptomic, epigenomic, and spatial data) and computational analysis with the goal of unraveling how the underlying regulatory mechanisms, cell-cell interactions, and regenerative lineages have changed in lung disease compared to normal lung tissue homeostasis.

Ongoing research interests include:

  • Using single-cell technologies to reconstruct the regenerative lineages in the human lung and to understand how these have been hijacked in cancer or altered in lung disease
  • Investigating cell-cell interactions and their role on lung regeneration, disease progression, and immunosuppression.
  • Dissecting the cell-type specific regulatory mechanisms underlying normal lung homeostasis and changes that arise in respiratory disease and lung cancer

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Mingang Xu, Ph.D

Mingang Xu, Ph.D., is a Research Assistant Professor in the Department of Cell, Developmental and Regenerative Biology. His current research focuses on molecular mechanisms regulating development and regeneration of the epidermis and its appendages, including hair follicles, fungiform papillae, filiform papillae, sweat glands and teeth. He is particularly interested in delineating the functions of Wnt/beta-catenin signaling in these processes, and in understanding how this pathway is dysregulated in skin diseases. He generated a genetic mouse model for the ectodermal dysplasia syndromes Odonto-onycho-dermal dysplasia (OMIM #257980) and Schöpf–Schulz–Passarge syndrome (OMIM #224750). Human patients with these diseases display skin and dental disorders. Dr. Xu uncovered the mechanisms underlying these diseases. His research has identified potential therapeutic approaches for affected individuals.

Ongoing research interests include:

  • Mechanisms underlying skin heterogeneity and regeneration
  • Molecular controls of ectodermal appendage patterning
  • Mechanisms controlling Merkel cell maintenance and regeneration
  • Roles of canonical and non-canonical Wnt signaling in craniofacial morphogenesis

Nan Yang, PhD

Nan Yang, PhD, is an Assistant Professor of Neuroscience at the Icahn School of Medicine at Mount Sinai. She is also a member of The Friedman Brain Institute, and the Ronald M. Loeb Center for Alzheimer's Disease at Mount Sinai. She pioneered the work in direct lineage reprogramming from somatic cells to neural cells and its application in neuropsychiatric and neurological disease modeling. Her team studies how disease-associated risk variants contribute to pathogenesis of multiple neuropsychiatric disorders with a particular focus on understanding how patient mutations in chromatin modifying proteins and functional non-coding elements impact gene expression regulation and neuronal function and contribute to autism spectrum disorder (ASD).

 

Ongoing research interests include:

  • Modeling ASD mutations in chromatin factors by directed differentiation protocols of human pluripotent stem cells into neurons
  • Understanding the role of the epigenome and non-coding DNA elements in neuronal signaling dependent gene regulation in different human neuronal subtypes
  • Exploring the mechanisms underlying transcription factors directed differentiation of human stem cells to neuronal subtypes.
  • Investigating autophage in human neurons and assessing functional outcome of mutations in Alzheimer's disease and Parkinson’s disease that affect autophage pathways.

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Lior Zangi, PhD

Lior Zangi, PhD, is an Assistant Professor in Cardiology at the Icahn School of Medicine at Mount Sinai. He completed his education and training at the Weizmann Institute of Science and at Harvard University. He has established a new method, mRNA based, for gene delivery to promote cardiovascular regeneration. Dr. Zangi’s laboratory investigates cellular and organ level regenerative mechanisms that can contribute to new therapeutic approaches to repair and regenerate the heart following myocardial infarction. The Zangi lab's goal is to induce cardiac regeneration after myocardial infarction using a gene therapy approach with modified mRNA. Modified mRNA is an attractive and novel in vivo gene delivery method that allows high gene expression in a variety of organs, including the heart. The Zangi Laboratory will use modified mRNA to transiently change the non-regenerative gene expression profile of adult cardiac muscle to grant regenerative capacity to the adult heart after injury. The lab plans to investigate specific genes or signaling networks on both cellular (cell specific) and tissue (whole muscle) levels, using modified mRNA and other gene delivery approaches.

Ongoing research interests include:

  • Induce cardiomyocytes proliferation and survival by manipulating cardiomyocytes metabolic pathways
  • Use cardiac reprograming to induce cardiovascular regeneration
  • Employ long non-coding RNA to induce cardiac regeneration

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Zwaka headshot

The Zwaka Lab’s main line of research investigates ways to direct pluripotent stem cells to replace human cells affected by injury or disease. Dr. Zwaka was recruited to Mount Sinai in 2013 to become Professor of Developmental and Regenerative Biology. After earning his MD and PhD degrees from Ulm University in Germany, Dr. Zwaka trained as a cardiologist and discovered the link between C-reactive protein and atherosclerotic inflammation, a connection that has had enormous importance for cardiology. Dr. Zwaka then went to the University of Wisconsin to do his postdoctoral fellowship in the lab of Jamie Thomson, who derived the first human embryonic stem cell line in 1998. In Thomson’s lab, Dr. Zwaka pioneered methods to genetically manipulate stem cells (gene editing). He then joined the faculty of Baylor College of Medicine, serving in both the Department of Molecular and Cellular Biology and in the Center for Cell and Gene Therapy. At Baylor, the Zwaka Lab discovered a key regulator of pluripotency that behaved so differently from canonical stem cell factors that it was named Ronin.

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