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Seminar: Using New Technologies to Study the Genetics of Disease

Discover how new technologies are being used to identify genetic variations associated with human disease.

In this seminar, you’ll learn how high-throughput genetics is expanding the field of human disease research; from traditional genome-wide association studies (GWAS) to targeted resequencing approaches that can identify both common and exceedingly rare causal variations.

Hear from scientists who use Illumina technologies to address their research questions.

Monday 30th September, 13:00pm

Gamma room, Science for Life Laboratory, Karolinska Institutet Science Park, Tomtebodavägen 23A, Solna


  • 13:00 How can SciLifeLab contribute to bringing NGS-based diagnostic tests to routine clinical care? Valtteri Wirta, SciLifeLab
  • 13:30 National Genomics Infrastructure, Mattias Ormestad, SciLifeLab
  • 14:00 Illumina solutions for Genetic Disease, Luc Smink, Illumina
  • 14:30 Inborn Errors of Metabolism – from genes to treatment in biochemical genetics, Anna Wedell, KI CMM
  • 15:00 Coffee break
  • 15:30 Guest Speaker: title TBC, Pekka Ellonen, FIMM
  • 16:00 Molecular diagnostics in rare genetic disorders with massively parallel sequencing, Daniel Nilsson, Karolinska University Hospital
  • 16:30 Digital pathology by spatial transcriptomics, Patrik Ståhl, SciLifeLab
  • 17.00 Lessons learned from prostate cancer profiling and piloting clinical sequencing of cancer, Johan Lindberg, Karolinska Institute

Register online

Organizers: National Genomics Infrastructure (NGI) facilities at Scilifelab and Illumina