Virtual Seminars for Scientists
PNRI’s Science Matters free, virtual seminars feature discussions with scientists around the globe about exciting research in genetics, genomics, and evolutionary biology with important societal impact.
22
May 2024
12:00 noon – 1:15 pm (PDT)
Anna Lindstrand, MD, PhD
Professor, Clinical Genetics/Rare Diseases Research Group Lead, Karolinska Institutet & Head of Clinical Genetics Diagnostic Laboratory, Karolinska University Hospital
Advancing Diagnostics in Rare Diseases: Multiomics Approaches and Innovations in Sweden
This seminar will focus on advancing multiomics diagnostics for rare diseases in Sweden, specifically targeting individuals with intellectual disabilities and neurodevelopmental disorders. Key seminar highlights include: a rare disease hackathon that fostered innovative solutions; the use of induced pluripotent stem (iPS) cells and neurons for research; and the implementation of long-read genome sequencing alongside transcriptomics analysis to enhance diagnostic precision.
Questions
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