Grant recipient

Claus Højbjerg Gravholt

Deciphering the Impact of a Missing or Extra X Chromosome
Grant amount: DKK 10,000,000
Claus Højbjerg Gravholt says: “Turner syndrome (TS) and Klinefelter syndrome (KS) are rare genetic diseases, with either lacking or extra X chromosomal material. The molecular basis for TS and KS remains an enigma. Results show an altered global epigenetic profile of TS and KS. The hypothesis for the study is that different genetic regulatory mechanisms are involved, underlying the characteristic traits of both syndromes. The study aims to determine the genetic mechanisms underlying the development of TS and KS – the clinical presentation of the genetic abnormalities. The researcher will study human material from different tissues as well as during different stages of development and will use a zebrafish model to study candidate genes further. The study will characterize both the epigenome (the addition of methyl groups to part of the DNA) and the transcriptome (RNA) of relevant tissues through development. Detailed study of similarities and differences in epigenetic programming and RNA expression between TS and KS will be established and candidate genes further evaluated in a zebrafish model.”
Claus Højbjerg Gravholt
Claus Højbjerg Gravholt, professor
Department of Endocrinology and Department of Molecular Medicine, Aarhus University Hospital