Personal profile
Professional Information
Sponsored Projects as Principal Investigator
1. Investigating EXOC6B function and the pathomechanisms underlying its associated skeletal dysplasia (ongoing) by Indian Council for Medical Research (ICMR), Government of India.
Duration: 3 years
2. Investigating the pathomechanisms underlying the RNA exosome component EXOSC1 associated neurodegenerative disorder (ongoing) by Science and Engineering Research Board (SERB), Government of India
Duration: 3 years
3. 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 (ongoing) by Indian Council for Medical Research (ICMR), Government of India.
Duration: 5 years
4. Investigating the role of IFT52 and EXOC6B in human biology and disease using cell-culture and Drosophila systems (ECR/2016/001475): Early Career Research award by Department of Science and Technology (DST) Science and Engineering Research Board (SERB), Govt. of India. (completed)
Duration: 3.5 years
Research Interests
1. Cilia and ciliopathies
2. Genetics of Mendelian disorders
3. Mechanisms of transcriptional regulation of gene expression
4. Genetics of complex diseases
5. Cell and molecular biology
6. Drosophila models of human disease
Education
• 2013, PhD, Biological Sciences, University of Pittsburgh, USA
• 2006, Master of Science, Biotechnology, University of Calcutta, India
• 2004, Bachelor of Science, Zoology, University of Calcutta, India
Experience
Oct 2020-Present: Associate Professor, Department of Medical Genetics, KMC, Manipal, MAHE
Mar 2016-Oct 2020: Assistant Professor, Department of Medical Genetics, KMC, Manipal, MAHE
Sep 2013-Mar 2016: Postdoctoral Research associate, University of Manchester, Manchester, UK
Awrads and recognition:
1. Emerging scientist award by Indian Society of Human Genetics (ISHG) at their conference in Jan 2025.
2. International Travel Support award from SERB to participate in European Human Genetics conference, 2023 at Glasgow, UK, 10-13 June, 2023.
3. Selected to participate as Young Investigator in the Young Investigator’s Meeting (YIM) 2019 by Indiabioscience, Department of Biotechnology (DBT), Govt. of India, CSIR-Indian Institute of Chemical Biology and India Alliance DBT Wellcome Trust: 2019
4. Early Career Research Award by SERB, Department of Science and Technology, Govt. of India: 2017
5. Andrew Mellon Pre-doctoral fellowship by Dietrich School of Arts and Sciences, University of Pittsburgh, USA: 2012
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Collaborations and top research areas from the last five years
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Genomic and ancestral variations linked to the development of post-acute sequelae of SARS-CoV-2 infection in Indian populations
Shenoy, P. U., Udupa, H., Ananthakrishnan, A. I., Sunil, P., Sardarni, U. K., Kumar, N., Acharya, A., Byrareddy, S. N., Upadhyai, P. & Das, R., 2026, In: Frontiers in Genetics. 16, 1696764.Research output: Contribution to journal › Article › peer-review
Open Access -
A tale of Rabs and the exocyst complex in ciliary trafficking and biogenesis
Upadhyai, P., Bose, D. & Quadri, N., 2025, In: Frontiers in Cell and Developmental Biology. 13, 1574638.Research output: Contribution to journal › Review article › peer-review
Open Access -
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder
Radhakrishnan, P., Quadri, N., Erger, F., Fuhrmann, N., Geist, O. M., Netzer, C., Khyriem, I., Muranjan, M., Udani, V., Yeole, M., Mascarenhas, S., Limaye, S., Siddiqui, S., Upadhyai, P. & Shukla, A., 2024, (Accepted/In press) In: Clinical Genetics. 107, 3, p. 311-322 12 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Citation (Scopus) -
Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro
Guleria, V. S., Quadri, N., Prasad, K., Das, R. & Upadhyai, P., 12-2024, In: Molecular Biology Reports. 51, 1, 274.Research output: Contribution to journal › Article › peer-review
3 Link opens in a new tab Citations (Scopus) -
Primary cilia in skeletal development and disease
Quadri, N. & Upadhyai, P., 01-10-2023, In: Experimental Cell Research. 431, 1, 113751.Research output: Contribution to journal › Review article › peer-review
9 Link opens in a new tab Citations (Scopus)