Alexander Hoischen wins Veni grant

Hoischen Alexander
During his research proposal entitled " NOVEL - De NOvo genetic Variants in Embryonic development and early Lethality" Alexander Hoischen aims to pinpoint crucial human developmental genes by identifying mutations that cause embryonic lethality, resulting in pregnancy loss.

Recently Alexander Hoischen established exome sequencing to study variation in the entire coding region of the human genome. He applied this successfully to identify novel disease genes for severe developmental syndromes. In this research he will adress two major challenges by studying mutations: (1) that cause embryonic lethality, resulting in pregnancy loss, and (2) that are located outside the protein coding regions of the genome. To this end, he will study selected cases of pregnancy loss exhibiting well-defined malformations. This will allow to identify genes with functions crucial for early development in humans. Such mutations would never be observed in liveborns. Secondly, he aims to improve our understanding of the human 'regulatome'. Cases of pregnancy loss with congenital malformations that do not exhibit causative variants in the coding part of the genome (the exome) will be subjected to whole genome sequencing with specific emphasis on the 'regulatome', which represents ~3% of the non-protein coding part of the human genome and consists of evolutionarily highly conserved non-coding elements (CNCs) or other regulatory elements. To further reduce the complexity of the whole genome/whole regulatome analyses, he will focus on de novo events that cause severe developmental disorders in a dominant fashion.

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