Dr Ricky Joshi

Dr Ricky S Joshi completed his PhD at the University of Barcelona where his research was focused on the transcriptional changes associated with the inhibition of protein targets for anti-cancer therapy. He then left academia to pursue a career in industry as the leader of the Genetic Variability platform at Oryzon Genomics, a Spanish biotech company. He then returned to academia as recipient of the ‘Marie Curie Actions’ postdoctoral fellowship, where he studied the role of epigenetics on human congenital disorders at the Icahn School of Medicine at Mount Sinai in New York City, USA. He then returned to Spain as a senior postdoc leading an EU horizon 2020 initiative called ‘SolveRD’, an ambitious project to re-analyse 20,000 cases of rare diseases. He then joined the Josep Carreras Leukaemia Research Institute as senior scientist leading several computational projects related to epigenetics and translational cancer biology. During his time in Spain, Dr Joshi also taught at the International University of Catalonia as module lead for several courses including human biology, genetics and bioinformatics.

Dr Joshi started in his new role as a teaching and research lecturer at the University of Leicester where he is the lead of the Precision Medicine for Cancer co-module in the newly formed BSc Clinical Science degree. He is also developing his independent line of research in cancer computational biology with particular focus in the single-cell, multi-omics and AI space.

Dr. Joshi's research group studies genetic and epigenetic drivers of carcinogenesis and how these molecular features can be harnessed to inform early cancer detection and treatment prediction. 

Dr. Joshi's research particularly focuses on the analysis and interpretation of single-cell sequencing data to identify subclonal genotypes and transcriptional networks in refractory cancers to accurately inform evolutionary trajectories of chemoresistance and highlight resistant signatures for personalised treatment and improved clinical intervention.

Dr. Joshi is interested in the application of cutting-edge computational methods to analyse multi-omic Next Generation Sequencing datasets for the discovery of cancer-specific gene networks and ‘signatures’ that rewire the molecular circuits of normal cells to produce malignancies. These molecular profiles can be developed into biomarkers for improved tumour detection, evolution, and treatment response predictors.

Dr. Joshi's group also employs machine/deep learning methodologies to forecast driver genes, as well as to identify biomarkers predicative of early detection, chemosensitivity and likelihood of relapse.

Dr Joshi is involved in numerous collaborative projects within the Leicester Cancer Research Centre including the utility of oxford Nanopore Technologies to analyse circulating tumour analytes for earlier detection and disease monitoring of breast cancer patients and the application of spatial transcriptomics approaches for drug response in mesothelioma suffers.

Selected publications

E Wiltshire, M Castro de Moura, D Piñeyro and RS. Joshi. Cellular and clinical impact of Protein Phosphatase Enzyme epigenetic silencing in multiple cancer tissues. 2024. Human Genomics. Available online. https://doi.org/10.1186/s40246-024-00592-x.

RS Joshi et al. Look-alike humans identified by facial recognition algorithms show genetic similarities. Cell Reports. 2022 Aug 23:40(8):111257. https://doi.org/10.1016/j.celrep.2022.111257. (Article made Cell Reports cover issue and was featured in international media outlets such as NYT, CNN and The Telegraph).

V Ortiz-Barahona*, RS Joshi* and M Esteller. Using DNA methylation profiling in translational oncology. Seminars in Cancer Biology. 2020 Dec 19;S1044-579X(20)30271-6. https://doi.org/10.1016/j.semcancer.2020.12.011 (*Authors contributed equally.)

M Rosselló-Tortella et al. Epigenetic loss of the tRNA methyltransferase TYW2 induces ribosome frameshifts in colon cancer. Proceedings of the National Academy of Sciences USA. 2020 Aug 25;117(34):20785-20793. https://doi.org/10.1073/pnas.2003358117 

RS Joshi et al. The DNA methylation landscape of human cancer organoids available at the American type culture collection. Epigenetics. 2020 May 12;1-11.  https://doi.org/10.1080/15592294.2020.1762398 (Article made cover issue.)

P Garg, RS Joshi, et al. A survey of inter-individual variation in DNA methylation identifies environmentally responsive co-regulated networks of epigenetic variation in the human genome. PLoS Genetics. 2018 Oct 1;14(10):e1007707. https://doi.org/10.1371/journal.pgen.1007707 

M Barbosa*, RS Joshi*, et al. Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications 2018 May 25;9(1):2064. https://doi.org/10.1038/s41467-018-04540-x (*Authors contributed equally.)

RS Joshi et al. DNA methylation profiling of uniparental disomy subjects provides a map of parental epigenetic bias in the human genome. American Journal of Human Genetics. 2016 Sep 1;99(3):555-66. https://doi.org/10.1016/j.ajhg.2016.06.032 

J Quilez et al. Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans. Nucleic Acids Research. 2016 May 5;44(8):3750-62. https://doi.org/10.1093/nar/gkw219 

• Integrated multi-omic analysis of non-coding (epi)genomic drivers as biomarkers for detection, progression and treatment response of patients with breast cancer.
• Integrated single-cell multi-omics analysis of chemoresistence transcriptional reprogramming in Triple Negative Breast Cancer.
• Single-cell analysis of chemosensitivity in Paediatric Medulloblastoma patients.
• Use of AL/ML for breast cancer stage classification.
• Investigating ethnicity-based disparities in therapy response in head and neck cancer patients.
• Single-cell analysis of DLBCL treatment response.

• Cancer computational biology
• Translational medicine
• Next Generation Sequencing
• Bioinformatics
• Single-cell Sequencing
• Multi-omics
• AI / ML

• 2023, NIHR-BRC PhD studentship
• 2023, MRC-AIM PhD studentship
• 2022, Future100 PhD studentships, College of Life Sciences, University of Leicester.
• 2020, Research grant for emerging investigators, Olga Torres Foundation.
• 2013, Research grant, March of Dimes Foundation.
• 2013, Postdoctoral fellowship, Marie Curie Actions.
• 2004, PhD studentship, Spanish Ministry of Science and Technology

1. Personalized and Precision medicine International Conference, (online). April 2021
   Chair for Plenary session 1. 
2. Wellcome Genome Conferences, Hinxton, UK. March 2019.
   Talk: Solve-RD: Facilitating the solving of unsolved rare diseases.
3. Barcelona Research Institute (IRB), Barcelona, Spain. April 2017.
   Invited talk: Epimutations as a novel cause of congenital disorders.
4. Catalan Society of Barcelona (SCB), Barcelona, Spain. March 2017.
   Platform talk: Epimutations as a novel cause of congenital disorders.
5. American Society of Human Genetics (ASHG), Baltimore, USA. October 2015.
   Platform talk: A survey of DNA methylation polymorphism in the human genome identifies environmentally responsive co-regulated networks of epigenetic variation.
6. American Society of Human Genetics (ASHG), Boston, USA. October 2013.
   Platform talk: Genome-wide DNA methylation analysis of uniparental disomy cases reveals many novel imprinted loci in the human genome.