Cellular and animal models in deciphering development and rare human diseases
Document Type
News Article
Abstract
Rare monogenic disorders are caused by pathogenic alterations in single genes that result in debilitating or life-threatening clinical conditions that affect a small fraction of the population compared to more prevalent diseases. Despite often individually being rare collectively rare disorders are a major healthcare challenge worldwide.
Primary cilia are a non-motile sensory cellular organelle that are crucial for cell proliferation, development, differentiation, patterning and homeostasis. Defective primary cilia formation or function result in a group of rare diseases termed as ciliopathies that are complex heterogeneous conditions often involving multiple organ systems, including brain, nervous, skeletal, renal systems, hearing and retinal impairment.
One of the principal themes of research carried out by our group uses in vitro cell culture and Drosophila melanogaster (fruit-fly) as models to dissect the cellular and molecular basis of rare skeletal ciliopathies.
We engage in collaborative research with clinical scientists and human geneticists to understand not only ciliopathies but other rare and common disorders as well.
Some of our recent work include:
- https://www.sciencedirect.com/science/article/abs/pii/S001448272200266X?via%3Dihub
- https://onlinelibrary.wiley.com/doi/10.1002/humu.24478
- https://onlinelibrary.wiley.com/doi/10.1002/humu.24235
- https://peerj.com/articles/9799/
Complete list of our work can be found at https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/
We are keen to collaborate with researchers in clinical and basic research settings across the globe who study ciliopathies and other human diseases.
We are always happy to hear from enthusiastic prospective PhD students and postdoctoral fellows who maybe interested in joining our team.
Please feel free to reach out to priyanka.u@manipal.edu
Publication Date
Spring 10-1-2022
Recommended Citation
Upadhyai, Priyanka Dr, "Cellular and animal models in deciphering development and rare human diseases" (2022). Health collection. 72.
https://impressions.manipal.edu/health-collection/72
