2000-present, full professor of Clinical Genetics at Uppsala University and Senior Consultant in Clinical Genetics, Uppsala University Hospital. 70% University comittment, 30% Clinical comittment.
1985, M.D., Uppsala University
1990, Ph.D., Medical Genetics, Uppsala University, “Molecular basis of inherited disorders in man”.
1992-94, Postdoctoral fellow, IGBMC/INSERM U184, Université Louis Pasteur, Strasbourg, France
Clinical and medical genetics, genomic medicine, developmental biology, functional genetics. Identify novel genetic factors and mechanisms of importance for different human diseases and traits, including neurodevelopmental and neurological traits. Understand genotype-phenotype correlations and explore functions caused by gene variants in different biological model systems, e.g. induced pluripotent stem cell (iPSC) derivatives.
Translate findings and establish tools for clinical diagnostic applications of genetic disorders. Provide clinical and experimental data for drug development and future treatment options of heritable disorders.
Communicate knowledge on genetic factors behind disease to patients, students, society and colleagues.
Principal teacher for undergraduate education in Medical Genetics, Uppsala University and for annual postgraduate courses in medical/clinical genetics.
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