Dr. Priyanka Upadhyai

Associate Professor

Department of Medical Genetics

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