Pankaj Pathak
Research areas: Medicine · Oncology · Glioma Diagnosis and Treatment · Chromatin Remodeling and Cancer · Acute Myeloid Leukemia Research
0000-0001-8753-7385
About
Dr. Pankaj Pathak is working as a Scientist at Department of Genomic and Translational Neuroscience, St. Jude Children’s Research Hospital. Formerly he worked as Research scientist at the National Institutes of Health (NIH), specializing in the molecular neuropathology of neuromuscular disorders and CNS tumors. His career is dedicated to advancing translational medicine through the development of novel diagnostic tools and AAV-based therapeutic interventions. Currently, Dr. Pathak leads the Platform Vector Gene Therapy (PaVe-GT) research project within the Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke (NINDS). In this role, he directs preclinical studies for gene therapies targeting COLQ and DOK7 mutations in Congenital Myasthenic Syndromes (CMS). His technical expertise includes the optimization of muscle-specific promoters, phenotypic characterization of mouse models, and the implementation of behavioral and electrophysiological assays to monitor therapeutic outcomes. Prior to his current focus, Dr. Pathak conducted significant research into the pathomechanisms of myofibrillar myopathies (MFM). He successfully developed RNAi-based AAV strategies to reverse protein aggregation and restore muscle function in preclinical models of LDB3-associated myopathy. His foundational work at the All India Institute of Medical Sciences (AIIMS) involved large-scale genomic and epigenetic profiling of pediatric brain tumors, identifying key molecular markers for glioma subgrouping and prognosis. With over 50 peer-reviewed publications, an h-index of 29, and recognition through the NIH Director’s Award, Dr. Pathak is a committed mentor and leader in the neuromuscular research community. He serves as an Associate Editor for Frontiers in Oncology and Frontiers in Neurology and is an active member of the American Society of Gene & Cell Therapy (ASGCT).
Employment
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Education
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Publications (51)
- Establishment of induced pluripotent stem cell line TRNDi045-A-38 carrying homozygous DOK7-related Congenital Myasthenia patient-mutation knock-in variant from parental KOLF2.1J Save
- AAV-Delivered RNAi Targeting Mutant LDB3 Prevents and Reverses Myofibrillar Myopathy through Mechanosignaling Restoration Save
- AAV Vector-mediated RNAi of Mutant LDB3 Expression as a Therapeutic Strategy for Myofibrillar Myopathy Save
- Expression of striated muscle Z-band alternatively spliced PDZ-motif protein LIM domain-binding 3 in the nervous system Save
- Focal amplification of FAL1, an oncogenic enhancer lncRNA mapping to chromosome 1q is associated with dysregulated BMI1/p21 axis and an adverse event in intracranial ependymomas Save
- Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation Save
- Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) patients in India. Save
- mTOR pathway activation in focal cortical dysplasia Save
- Approach to molecular subgrouping of medulloblastomas: Comparison of NanoString nCounter assay versus combination of immunohistochemistry and fluorescence in-situ hybridization in resource constrained centres Save
- Loss of SMARCB1/INI1 Immunoexpression in Chordoid Meningiomas Save
- Immunohistochemical and molecular genetic study on epithelioid glioblastoma: Series of seven cases with review of literature Save
- C11orf95-RELA fusions and upregulated NF-KB signalling characterise a subset of aggressive supratentorial ependymomas that express L1CAM and nestin Save
- Clinicopathological and molecular characteristics of pediatric meningiomas Save
- Epithelial-to-mesenchymal transition–related transcription factors are up-regulated in ependymomas and correlate with a poor prognosis Save
- Identification of miR-379/miR-656 (C14MC) cluster downregulation and associated epigenetic and transcription regulatory mechanism in oligodendrogliomas Save
- Pediatric High Grade Glioma Save
- ATRX in Diffuse Gliomas With its Mosaic/Heterogeneous Expression in a Subset Save
- BRAF gene alterations and enhanced mammalian target of rapamycin signaling in gangliogliomas Save
- Downregulation of SMARCB1/INI1 expression in pediatric chordomas correlates with upregulation of miR-671-5p and miR-193a-5p expressions Save
- Genetic alterations related to BRAF-FGFR genes and dysregulated MAPK/ERK/mTOR signaling in adult pilocytic astrocytoma Save