Forskning
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Region Hovedstaden - en del af Københavns Universitetshospital
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Expertise

Expert in applied human molecular genetics. Expert areas include microscopic and submicroscopic structural variations (chromosome rearrangements, and submicroscopic copy number variations, CNVs) and their involvement in disease pathogenesis; intragenic small variations (mutations) and their association with human disorders. ZT has hands-on-experience on several laboratory techniques including chromosome analysis, chromosome microarray analyses, fluorescence in situ hybridization (FISH), gene cloning technologies, different DNA and RNA tecniques. 

Primære forskningsområder

To identify genes and genetic/epigenetic mechanisms involved in monogenic and complex neurodevelopmental/

neuropsychiatric disorders: e.g. cloning of the Menkes disease gene, ATP7A; elucidation of the role of DYRK1A

in microcephaly; association of AADAC and IMMP2L in Tourette syndrome. 

Aktuel forskning

Identification of genes, genetic and epigenetic mechanisms involved different human disorders including: 

  • Tourette syndrome and co-morbidities (ADHD, OCD, Autism)
  • Intellectual disabilities
  • Imprinting disorders
  • Cornelia de Lange syndrome and other cohesion deficiency disorders
  • Rett- syndrome and related disorders

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