Peter Heutink

Professor of Genome Biology of Neurodegenerative Diseases at the Hertie Institute for Clinical Brain Research

Professor Peter Heutink is currently the Speaker of the DZNE-Tübingen. He was trained as a molecular biologist at the University of Amsterdam and performed his PhD at the department of Clinical Genetics of the Erasmus Medical Center Rotterdam. During his thesis work on the genetics of complex diseases he performed genome wide linkage scans for neuropsychiatric disorders and worked together with prof Kidd from Yale University in 1989 to develop strategies for genetic studies for complex diseases. He then worked on the positional cloning of genes for a number of diseases identified mutations for important human diseases such as Hemochromatosis, Porencephaly and several developmental disorders including mental retardation. Much of this work was performed in genetically isolated populations. In 1994, he switched his focus to neurodegenerative diseases and was the senior author of the seminal Nature paper by Hutton et al. (1998) describing for the first time mutations in the Microtubule Associated Protein Tau for Frontal temporal dementia. This finding was not only of importance for the understanding of this early onset dementia but also demonstrated for the first time that mutations in tau could lead to neurodegeneration which has led to a reformulation of the amyloid cascade hypothesis, the single most central hypothesis for Alzheimer disease.

Prof. Heutink identified additional genes for neurodegenerative diseases and is involved in a series of Genome Wide Association (GWA) and exome sequencing studies. His group developed statistical methods to investigate genetic variation in gene networks instead of single genes, ways to efficiently detect epistasis and methods to better predict the causal risk variant in GWAS studies. He headed several projects to generate genetic and genomic maps for different world populations, an important resource for extending the scope of genetic studies to non-Western populations.

In recent years, he has participated in the FANTOM project headed by the RIKEN OSC in Japan, which aims to improve the functional annotation of the human genome. This year two landmark papers of the FANTOM consortium where published in Nature describing resources that will be essential to understand the biology underlying the increasing number of genetic risk factors for human diseases. In a similar fashion his group has developed automated high throughput cellular screening methodologies to investigate large numbers of genetic variations in their cellular context.