CURRENT ACADEMIC ROLE & RESPONSIBILITIES
Associate Professor, Department of Medical Genetics, KMC, Manipal
Research, Teaching and Departmental in-charge of research equipment, Quality control and short courses
ACADEMIC QUALIFICATIONS
| Degree | Specialisation | Institute | Year of passing |
|---|---|---|---|
| Ph.D. | Developmental Genetics | University of Pittsburgh, USA | 08/2013 |
| M.Sc. | Biotechnology | Presidency College, University of Calcutta, India | 07/2006 |
| B.Sc. | Zoology | Presidency College, University of Calcutta, India | 07/2004 |
Experience
| Institution / Organisation | Designation | Role | Tenure |
|---|---|---|---|
| Department of Medical Genetics, KMC, Manipal, MAHE | Associate Professor | Oct 2020-Present | |
| Department of Medical Genetics, KMC, Manipal, MAHE | Assistant Professor | Mar 2016-Oct 2020 | |
| University of Manchester, Manchester, UK | Postdoctoral Research associate | Sep 2013-Mar 2016 |
Investigating the pathomechanisms underlying the RNA exosome component EXOSC1 associated neurodegenerative disorder
Principal Investigator: Dr Priyanka Upadhyai
Co-Investigator: Dr Anju Shukla, Dr Dinesh Upadhya
Funding Agencies: SERB, Govt. of India
Recent work at our center, led by Dr Anju Shukla identified a biallelic missense pathogenic variant, c.104C>T p.(Ser35Leu) in EXOSC1 associated with a novel pontocerebellar phenotype, PCH1F (OMIM# 619304) characterized by pontocerebellar hypoplasia, delayed myelination, developmental delay and microcephaly. Here we aim to dissect how the reported EXOSC1 mutation impacts stemness of induced pluripotent stem cells derived from EXOSC1 patient fibroblasts, their subsequent neuronal differentiation and RNA metabolism during these processes. Using Drosophila, a widely used model for neurodevelopmental disorders we will evaluate the physiological consequences of EXOSC1 impairment in vivo.
Investigating the crosstalk between primary cilia and autophagy in chondrogenesis and its modulation by Fibroblast growth factor (FGF) signaling in FGFR3 related skeletal dysplasias in vitro
Principal Investigator: Dr Priyanka Upadhyai
Co-Investigator: Dr Hitesh Shah and Dr Girisha KM
Funding Agencies: ICMR, Govt. of India
Constitutively active fibroblast growth factor receptor 3 (FGFR3) signaling causes monogenic skeletal dysplasias eg. achondroplasia and hypochondroplasia. Achondroplasia is the commonest non-lethal chondrodysplasia worldwide. We propose to uncover the molecular basis of a potential reciprocal regulation between primary cilia and autophagy in chondrogenesis and dissect how FGFR3 signaling may modulate this interplay.
AREAS OF INTEREST, EXPERTISE AND RESEARCH
Area of Interest
Cell, molecular and developmental biology
Area of Expertise
Drosophila development and genetics, cilia biology, signal transduction, transcriptional repression
Area of Research
Cilia, ciliopathies, skeletal diseases, transcriptional regulation of gene expression, neurological disorders, human genetics, Drosophila models of human diseases
24- INTERNATIONAL PUBLICATIONS
https://www.ncbi.nlm.nih.gov/myncbi/1rY6wwQ0S8UQ7/bibliography/public/
NATIONAL PUBLICATIONS
https://www.ncbi.nlm.nih.gov/myncbi/1rY6wwQ0S8UQ7/bibliography/public/