This must be the place to hear about the latest and greatest in the expanding field of health data science. The mission of the Center for Health Data Science is to not only strengthen health data science within the Faculty of Health and Medical Sciences (SUND) at the University of Copenhagen, but to serve as a hub for researchers using health data science.

Understanding the Effects of Missense Variants
Using Analyses of Protein Stability and Conservation

with Kresten Lindorff-Larsen

Kresten Lindorff-Larsen is a Professor of Computational Protein Biophysics and director of the Protein Interactions and Stability in Medicine and Genomics (PRISM) Centre. 

Kresten and his group have used computational and experimental approaches to determine the consequences of missense variants in proteins, with the aim of using such models both for diagnosing genetic diseases, and for providing mechanistic insight into disease.

In particular, he has focused on the effects of individual amino acid changes on protein folding and stability, linking biophysical calculations with protein degradation and abundance in cells. By examining a range of proteins and diseases he has found that loss of stability is a common drive for genetic diseases, and that predictions of changes in thermodynamic protein stability are useful to assess the pathogenicity of genetic variation. In this talk, he will discuss these ideas using recent examples from our laboratories.

He will also talk about his experience using sequence analyses and high-throughput, multiplexed assays of variant effects experiments to understand the origins of loss of function. Finally, he will discuss how machine learning methods have enabled the calculation of effects of all the possible missense variants in the human proteome on protein stability, and are enabling us to distinguish between effects on protein abundance and intrinsic activity.

The Talking HeaDS seminar series offers:

• Presentations on research developments across disciplines that leverage data science methodologies
• Question and answer sessions with researchers
• Networking, mingling, and refreshments to strengthen relationships across health data science 

It may not be a once in a lifetime opportunity, but you won't want to miss these events!

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