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Niels Tommerup

Niels Tommerup

Professor,, Professor

Primary fields of research

Isolation of disease genes by positional cloning/positional candidate gene strategies, by identification and exploitation of disease-associated translocation-breakpoints (Mendelian Cytogenetics) and by combining data on gene expression and biological pathways with genome mapping and genome  evolution. Mapping of gene expression/function during normal and abnormal fetal development and during oncogenesis. Expression of protein-coding and non-coding genes in relation to genomic imprinting, chromosomal structure and long range position effects within evolutionary conserved regulatory landscapes near developmental genes.

Current research

Research profile and current research programme
Johannsen Center for Functional Genome Research was established by the Danish
National Research Foundation in 2001/2002, with the aim to identify novel
disease genes and clarify genetic mechanisms and pathways involved in diseases,
with a special focus on neuro-developmental and -degenerative disorders. WJC
organizes Mendelian Cytogenetics Network, a global collaboration of >300
genetic laboratories where disease associated balanced chromosomal
rearrangements are registered in a central database ( to
facilitate the cloning and identification of candidate disease genes. We are
presently mapping and characterizing candidate genes involved in several types
of brain dysfunction, including mental retardation, autism, seizures and
congenital brain malformations, ataxia and dyslexia, as well as candidate genes
for congenital heart defects and limb defects.

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