{"id":1144,"date":"2025-05-27T07:09:26","date_gmt":"2025-05-27T07:09:26","guid":{"rendered":"https:\/\/chromrare.eu\/?p=1144"},"modified":"2025-05-27T07:09:28","modified_gmt":"2025-05-27T07:09:28","slug":"daria-stelmashenko","status":"publish","type":"post","link":"https:\/\/chromrare.eu\/index.php\/2025\/05\/27\/daria-stelmashenko\/","title":{"rendered":"Daria Stelmashenko"},"content":{"rendered":"\n

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Hi! I\u2019m Daria, ChromRare PhD student enrolled in the project on the side of an industrial partner \u2013 geneXplain GmbH, German bioinformatics company. After spending over 10 years in the industry, I find it extremely exciting to have this opportunity of being enrolled in an academic study of my PhD program on the premises of University of Trento. This unique ability to dive from the industrial R&D to the academic environment during my secondments within the ChromRare project has opened to me a broader understanding of the complex interplay between different areas of computational and wet lab biology. <\/p>\n\n\n\n

I did and still do experience quite some challenges in learning biological insights (as a mathematician by training), but I truly enjoy this journey that definitely shifts my knowledge and understanding of disease molecular mechanisms to a new level.<\/p>\n\n\n\n

At the project my role is in development software pipeline for multi-omics analysis of the data produced by the project partners. The end goal of my study is in modeling of the cell differentiation process in chromatinopathies in order to understand how pathogenic variants in chromatin regulators may lead to impairments of cell differentiation process. <\/p>\n\n\n\n

Since project data is still in the process of generation, at the moment I am testing my software pipeline on the open access datasets on Charge and Kabuki syndromes. Already now, based on the analysis of DNA methylation data in Charge and Kabuki syndromes, I was able to detect key mechanism similarities and differences of these two chromatinopathies. Having modeled molecular mechanisms of these complex rare genetic diseases, I have pick pointed potential master regulators of these pathologies on the level of intracellular reactions. I am now looking forward to working with the data generated within the project, meanwhile proceeding with further development of my software system (by the way, you can check it out at geneXplain\u2019s website \u2013 the pipeline is called Genome Enhancer and it is truly an awesome solution for those who need to integrate various omics data in one study).<\/p>\n\n\n\n

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#PhDLife #Epigenetics #ComputationalBiology<\/p>\n\n\n\n

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\"\"<\/figure>\n<\/div>","protected":false},"excerpt":{"rendered":"

Hi! I\u2019m Daria, ChromRare PhD student enrolled in the project on the side of an industrial partner \u2013 geneXplain GmbH, German bioinformatics company. After spending over 10 years in the industry, I find it extremely exciting to have this opportunity of being enrolled in an academic study of my PhD program on the premises of … <\/p>\n

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