A biased story of diagnosing rare disease and finding the drugs to treat them

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• Dr. Robert Hoehndorf, King Abdullah University of Science and Technology (KAUST)
• Wednesday 09 February 2022, 12:00-13:00
• online via zoom.

If you have a question about this talk, please contact Jordan McCormick.

Rare diseases, while individually rare, affect around 6% of the population and often have a genetic basis. Diagnosis of rare diseases is challenging and requires a combination of clinical and molecular information together with a large volume of background knowledge about molecular and pathophysiological pathways. Often, once a diagnosis has been made for an individual with a rare disease, only symptomatic or palliative treatments are available. Repurposing approved drugs may offer a solution. I will talk about our work on using machine learning methods that combine background knowledge with molecular data to diagnose rare diseases and find drugs for specific protein targets. I will introduce machine learning methods to find gene-disease associations, variants that cause specific sets of phenotypes, and the state of the art method DTI -Voodoo to identify drugs that target a specific protein. However, I will spend a large part of my talk focusing on biases in data and pitfalls in applying machine learning methods, and some ways to detect and avoid them.

About the speaker: Robert Hoehndorf is an Associate Professor in Computer Science at King Abdullah University of Science and Technology (KAUST) in Thuwal. Prior to joining KAUST , Robert had research positions at Aberystwyth University, the University of Cambridge, the European Bioinformatics Institute, and the Max Planck Institute for Evolutionary Anthropology. His research focuses on the development and application of knowledge-based algorithms in biology and biomedicine.

This talk is part of the CCB seminars series.

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