Mariella G. Filbin, MD, PhD
Jan Paradise Chair in Brain Cancer Research; Co-Director, Brain Tumor Center; Research Director, Pediatric Neuro-Oncology Program; Attending Physician, Dana-Farber/Boston Children’s Blood Disorders Center
Associate Professor of Pediatrics, Harvard Medical School
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Mariella G. Filbin, MD, PhD
Jan Paradise Chair in Brain Cancer Research; Co-Director, Brain Tumor Center; Research Director, Pediatric Neuro-Oncology Program; Attending Physician, Dana-Farber/Boston Children’s Blood Disorders Center
Associate Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Medical School
Medical University of Graz
Graz
Austria
Residency
Pediatrics
Boston Children's Hospital
Boston
MA
Fellowship
Pediatric Hematology/Oncology
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
Boston
MA
Certifications
American Board of Pediatrics (General)
American Board of Pediatrics (Hematology-Oncology)
Professional History
Dr. Mariella Filbin earned her MD and PhD in biochemistry and molecular biology from the Medical University of Graz, Austria. After a pediatric residency at Boston Children’s Hospital, she completed a fellowship in pediatric hematology/oncology at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. She joined the faculty at Dana-Farber/Boston Children's as a pediatric neuro-oncologist in July 2017. In addition to her role in the treatment of patients with brain tumors, her research focuses on establishing cellular networks of tumor dependencies in pediatric brain tumors with the goal of finding new targeted therapies. Current areas of emphasis are: (1) utilizing single-cell transcriptomics to determine the tumor architecture and heterogeneity in pediatric brain tumors and (2) exploring the downstream effects of epigenetic driver mutations and their potential therapeutic applications in DIPG and high-grade gliomas.
Publications
Cellular hierarchies of embryonal tumors with multilayered rosettes are shaped by oncogenic microRNAs and receptor-ligand interactions. View Abstract
Dissecting the immune landscape in pediatric high-grade glioma reveals cell state changes under therapeutic pressure. View Abstract
Effective targeting of PDGFRA-altered high-grade glioma with avapritinib. View Abstract
Correction: Clinical Efficacy of ONC201 in H3K27M-Mutant Diffuse Midline Gliomas Is Driven by Disruption of Integrated Metabolic and Epigenetic Pathways. View Abstract
Neuroimmune-competent human brain organoid model of diffuse midline glioma. View Abstract
Paediatric strategy forum for medicinal product development in diffuse midline gliomas in children and adolescents ACCELERATE in collaboration with the European Medicines Agency with participation of the Food and Drug Administration. View Abstract
Multi-omics approaches reveal that diffuse midline gliomas present altered DNA replication and are susceptible to replication stress therapy. View Abstract
Applying single-cell and single-nucleus genomics to studies of cellular heterogeneity and cell fate transitions in the nervous system. View Abstract
GABAergic neuronal lineage development determines clinically actionable targets in diffuse hemispheric glioma, H3G34-mutant. View Abstract
Diffuse midline glioma invasion and metastasis rely on cell-autonomous signaling. View Abstract
Clinically relevant molecular hallmarks of PFA ependymomas display intratumoral heterogeneity and correlate with tumor morphology. View Abstract
An ERK5-PFKFB3 axis regulates glycolysis and represents a therapeutic vulnerability in pediatric diffuse midline glioma. View Abstract
A road map for the treatment of pediatric diffuse midline glioma. View Abstract
Clinical Efficacy of ONC201 in H3K27M-Mutant Diffuse Midline Gliomas Is Driven by Disruption of Integrated Metabolic and Epigenetic Pathways. View Abstract
TIM-3 blockade in diffuse intrinsic pontine glioma models promotes tumor regression and antitumor immune memory. View Abstract
Mapping pediatric brain tumors to their origins in the developing cerebellum. View Abstract
A comprehensive genomic study of 390 H3F3A-mutant pediatric and adult diffuse high-grade gliomas, CNS WHO grade 4. View Abstract
Why haven't we solved intracranial pediatric ependymoma? Current questions and barriers to treatment advances. View Abstract
Characterizing the biology of primary brain tumors and their microenvironment via single-cell profiling methods. View Abstract
Common molecular features of H3K27M DMGs and PFA ependymomas map to hindbrain developmental pathways. View Abstract
Neuronal-Activity Dependent Mechanisms of Small Cell Lung Cancer Progression. View Abstract
Erratum to: Characterizing the biology of primary brain tumors and their microenvironment via single-cell profiling methods. View Abstract
Therapeutic targeting of prenatal pontine ID1 signaling in diffuse midline glioma. View Abstract
Activation of Hedgehog signaling by the oncogenic RELA fusion reveals a primary cilia-dependent vulnerability in supratentorial ependymoma. View Abstract
The landscape of tumor cell states and spatial organization in H3-K27M mutant diffuse midline glioma across age and location. View Abstract
BAF Complex Maintains Glioma Stem Cells in Pediatric H3K27M Glioma. View Abstract
VRK1 as a synthetic lethal target in VRK2 promoter-methylated cancers of the nervous system. View Abstract
Immunotherapy approaches for the treatment of diffuse midline gliomas. View Abstract
Imipridones affect tumor bioenergetics and promote cell lineage differentiation in diffuse midline gliomas. View Abstract
A druggable addiction to de novo pyrimidine biosynthesis in diffuse midline glioma. View Abstract
An affinity for brainstem microglia in pediatric high-grade gliomas of brainstem origin. View Abstract
Single-cell epigenetic analysis reveals principles of chromatin states in H3.3-K27M gliomas. View Abstract
Bromodomain and Extra-Terminal Protein Inhibitors: Biologic Insights and Therapeutic Potential in Pediatric Brain Tumors. View Abstract
GD2-CAR T cell therapy for H3K27M-mutated diffuse midline gliomas. View Abstract
Targeting integrated epigenetic and metabolic pathways in lethal childhood PFA ependymomas. View Abstract
Targeting fibroblast growth factor receptors to combat aggressive ependymoma. View Abstract
The imitation game: How glioblastoma outmaneuvers immune attack. View Abstract
Outcomes after first relapse of childhood intracranial ependymoma. View Abstract
Understanding the epigenetic landscape and cellular architecture of childhood brain tumors. View Abstract
Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis. View Abstract
Infiltrative gliomas of the thalamus in children: the role of surgery in the era of H3 K27M mutant midline gliomas. View Abstract
Trametinib for the treatment of recurrent/progressive pediatric low-grade glioma. View Abstract
Into Thin Air: Hypoxia Drives Metabolic and Epigenomic Deregulation of Lethal Pediatric Ependymoma. View Abstract
Molecular and clinicopathologic features of gliomas harboring NTRK fusions. View Abstract
Single-Cell RNA-Seq Reveals Cellular Hierarchies and Impaired Developmental Trajectories in Pediatric Ependymoma. View Abstract
The growing role of epigenetics in childhood cancers. View Abstract
Stalled developmental programs at the root of pediatric brain tumors. View Abstract
Re-programing Chromatin with a Bifunctional LSD1/HDAC Inhibitor Induces Therapeutic Differentiation in DIPG. View Abstract
Histone Variant and Cell Context Determine H3K27M Reprogramming of the Enhancer Landscape and Oncogenic State. View Abstract
Increasing value of autopsies in patients with brain tumors in the molecular era. View Abstract
Rapid Generation of Somatic Mouse Mosaics with Locus-Specific, Stably Integrated Transgenic Elements. View Abstract
Mitogenic and progenitor gene programmes in single pilocytic astrocytoma cells. View Abstract
Resolving medulloblastoma cellular architecture by single-cell genomics. View Abstract
An Integrative Model of Cellular States, Plasticity, and Genetics for Glioblastoma. View Abstract
Developmental origins and emerging therapeutic opportunities for childhood cancer. View Abstract
Non-inflammatory tumor microenvironment of diffuse intrinsic pontine glioma. View Abstract
Developmental and oncogenic programs in H3K27M gliomas dissected by single-cell RNA-seq. View Abstract
Gliomas in Children. View Abstract
Molecular pathogenesis and therapeutic implications in pediatric high-grade gliomas. View Abstract
Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. View Abstract
Decoupling genetics, lineages, and microenvironment in IDH-mutant gliomas by single-cell RNA-seq. View Abstract
Single-cell RNA-seq supports a developmental hierarchy in human oligodendroglioma. View Abstract
Gliomas Genomics and Epigenomics: Arriving at the Start and Knowing It for the First Time. View Abstract
A Brain Tumor/Organotypic Slice Co-culture System for Studying Tumor Microenvironment and Targeted Drug Therapies. View Abstract
Of Brains and Blood: Developmental Origins of Glioma Diversity? View Abstract
How neuronal activity regulates glioma cell proliferation. View Abstract
Metallothionein-I/II Promotes Axonal Regeneration in the Central Nervous System. View Abstract
Soluble adenylyl cyclase is necessary and sufficient to overcome the block of axonal growth by myelin-associated factors. View Abstract
PTEN inhibition enhances neurite outgrowth in human embryonic stem cell-derived neuronal progenitor cells. View Abstract
Coordinate activation of Shh and PI3K signaling in PTEN-deficient glioblastoma: new therapeutic opportunities. View Abstract
Secretory leukocyte protease inhibitor reverses inhibition by CNS myelin, promotes regeneration in the optic nerve, and suppresses expression of the transforming growth factor-ß signaling protein Smad2. View Abstract
Rolipram promotes functional recovery after contusive thoracic spinal cord injury in rats. View Abstract
A novel role for PTEN in the inhibition of neurite outgrowth by myelin-associated glycoprotein in cortical neurons. View Abstract
Feasibility and tolerability of bevacizumab in children with primary CNS tumors. View Abstract
A large-scale chemical screen for regulators of the arginase 1 promoter identifies the soy isoflavone daidzeinas a clinically approved small molecule that can promote neuronal protection or regeneration via a cAMP-independent pathway. View Abstract
Combined intrinsic and extrinsic neuronal mechanisms facilitate bridging axonal regeneration one year after spinal cord injury. View Abstract
Live or let die: CCM2 provides the link. View Abstract
Increased synthesis of spermidine as a result of upregulation of arginase I promotes axonal regeneration in culture and in vivo. View Abstract
Tumor stabilization under treatment with imatinib in progressive hypothalamic-chiasmatic glioma. View Abstract
Neurotrophin 3/TrkC-regulated proteins in the human medulloblastoma cell line DAOY. View Abstract
Pharmacokinetics and safety of intrathecal liposomal cytarabine in children aged <3 years. View Abstract
PirB, a second receptor for the myelin inhibitors of axonal regeneration Nogo66, MAG, and OMgp: implications for regeneration in vivo. View Abstract
Mitosis-dependent protein expression in neuroblastoma cell line N1E-115. View Abstract
Synthesis, chaperoning, and metabolism of proteins are regulated by NT-3/TrkC signaling in the medulloblastoma cell line DAOY. View Abstract
BDNF activates CaMKIV and PKA in parallel to block MAG-mediated inhibition of neurite outgrowth. View Abstract
The role of cyclic AMP signaling in promoting axonal regeneration after spinal cord injury. View Abstract
The inhibition site on myelin-associated glycoprotein is within Ig-domain 5 and is distinct from the sialic acid binding site. View Abstract
Therapeutic approaches to promoting axonal regeneration in the adult mammalian spinal cord. View Abstract
Myelin-associated inhibitory signaling and strategies to overcome inhibition. View Abstract
Recapitulate development to promote axonal regeneration: good or bad approach? View Abstract
How inflammation promotes regeneration. View Abstract
Nectin-like molecule 1 is a high abundance protein in cerebellar neurons. View Abstract
The cytokine interleukin-6 is sufficient but not necessary to mimic the peripheral conditioning lesion effect on axonal growth. View Abstract
The medulloblastoma cell line DAOY but not eleven other tumor cell lines expresses minichromosome maintenance protein 4. View Abstract
MAG induces regulated intramembrane proteolysis of the p75 neurotrophin receptor to inhibit neurite outgrowth. View Abstract
Overcoming inhibitors in myelin to promote axonal regeneration. View Abstract
Activated CREB is sufficient to overcome inhibitors in myelin and promote spinal axon regeneration in vivo. View Abstract
Expression of proteasomal proteins in ten different tumor cell lines. View Abstract
Combinatorial therapy with neurotrophins and cAMP promotes axonal regeneration beyond sites of spinal cord injury. View Abstract
The phosphodiesterase inhibitor rolipram delivered after a spinal cord lesion promotes axonal regeneration and functional recovery. View Abstract
cAMP and Schwann cells promote axonal growth and functional recovery after spinal cord injury. View Abstract
A role for cAMP in regeneration of the adult mammalian CNS. View Abstract
Neurotrophins elevate cAMP to reach a threshold required to overcome inhibition by MAG through extracellular signal-regulated kinase-dependent inhibition of phosphodiesterase. View Abstract
Myelin-associated inhibitors of axonal regeneration in the adult mammalian CNS. View Abstract
New roles for old proteins in adult CNS axonal regeneration. View Abstract
Arginase I and polyamines act downstream from cyclic AMP in overcoming inhibition of axonal growth MAG and myelin in vitro. View Abstract
Myelin-associated glycoprotein interacts with the Nogo66 receptor to inhibit neurite outgrowth. View Abstract
Spinal axon regeneration induced by elevation of cyclic AMP. View Abstract
A role for cAMP in regeneration during development and after injury. View Abstract