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Needles in a haystack: Tracking down the genetic cause of rare diseases.

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If you have a question about this talk, please contact Sven Friedemann.

A disease is classified as rare by the European Union if it affects less than 5 in 10,000 people of the general population. About 7000 rare diseases have been described to date, of which 80% have a genetic component. Recent advances of sequencing methods enable us to read the genetic code of thousands of individuals more efficiently at a much lower cost. This seminar will focus on the search for genetic variants that underlie rare diseases using whole exome-sequencing, a method that interrogates the protein-coding fraction of an individual’s genome. This biomedical research is deemed to enhance diagnosis, prognosis and treatment of the respective diseases.

This talk is part of the Darwin College Science Seminars series.

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