In this PNRI Science Matters seminar, Dr. Anna Lindstrand from the Karolinska Institutet in Sweden 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.
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.
Topics include research on the genetics of ethnically diverse populations, diseases afflicting vulnerable or underserved groups, and efforts to expand the diversity (broadly defined) of research subjects or the scientific workforce.
The seminars are free to attend and open to the scientific community and anyone interested in learning more about genetics. These are virtual events (via Zoom) and require advance registration. Visit: [ Ссылка ] to learn more and register for upcoming seminars.
