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Personlig profil

Forskningsområde

Our team at the Danish Epilepsy Centre are aiming to help improving diagnosis for individuals with severe genetic epilepsy through genetic testing, and to help raising awareness of genetic epilepsies. Making a genetic diagnosis has many implications for management and counseling, and help us to accurately document the natural history of genetic epilepsies. First step towards precision medicine is precision diagnosis!

The overall aim of our research is to unravel the underlying mechanisms of genetic epilepsies, to understand correlations with clinical symptoms and to find new treatment options.

Our main research areas of interest are:
1) gene discovery in neurodevelopmental disorders and epilepsy;
2) electro-clinical characterization of genetic epilepsies;
3) functional characterization of genetic variants to understand their pathomechanisms;
4) explore genotype-phenotype-pharmacoresponse correlations;
5) improve existing or develop new personalized therapies for individuals with genetic epilepsies

Uddannelse (Akademiske kvalifikationer)

Research Management Course, Copenhagen Business School

mar. 2017jun. 2017

PhD , Medical Genetics, Københavns Universitet

20042008

MSc, Biomedine, Syddansk Universitet

19972003

Forskningsområder

  • Genetik
  • Epilepsi

Fingeraftryk

Fingeraftryk dannes ud fra videnskabelige udgivelser og skaber et indeks med vægtede emneord for hver enkelt forsker.
  • 1 Lignende profiler

Netværk

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