Rare, genetic diseases each affect only a few individuals but the high number of different rare diseases means that about 1 of 17 people is affected by a rare disease. Rare diseases are often caused by genetic variants especially loss of function mutations. We can study the effects of such mutations on human phenotype - health and disease. The approach we use benefits from the fact that different patients often have different mutations sometimes even in different genes that do affect the same biological process. Challenges in this research are presented by the genetic background variation and life-style influences. This leads to variety in disease presentation and problems in the identification of suitable drugs. Integrative systems biology, using pathway and network analysis approaches, is one of the ways to integrate experimental data and information from different resources in order to get a comprehensive insight. This can then be used to identify disease processes, important lifestyle factors like from nutrition and to find new drugs or new drug applications.
The European Joint Programme on Rare Diseases (EJP-RD ) is a large pan-European project where many research teams, data scientists and clinicians collaborate. It puts emphasis on studying pathway and network approaches for rare diseases and has identified the integration of genetic variants and environmental data as one of the main challenges. Chris Evelo and Friederike Ehrhart in the Department of Bioinformatics of Maastricht University are leading this work.
Within this collaborative project, we are looking for a PhD candidate with a background in bioinformatics, data sciences, systems biology or life sciences in general with a demonstrable training in data analysis.
You will work in pathway and network biology, evaluate how new integrative systems biology approaches, for which in part new tools will be developed, lead to better understanding, improved diagnosis and treatment of rare disease patients, and this will serve as the basis for your PhD thesis.
Main Tasks and responsibilities
- Contribute to integrative systems biology research in rare diseases leading to a PhD thesis.
- Investigate and develop algorithms and software tools to link genetic variant information, and combine that with for instance information from toxicology and nutritional science from external databases and experimental data and use that for biological pathway and extension, overlap and analysis approaches. For molecular biological networks. Documentation and publication of the results.
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