You will be part of a highly international working environment in an inspiring, dynamic and productive team at the Barakat lab at the Clinical Genetics department of Erasmus MC. With access to a broad range of disease models and high-throughput next generation sequencing data, both from wet lab experiments as well as patient samples. The Barakat lab
was established in 2017 at Erasmus MC, and focusses on deciphering molecular mechanisms leading to neurodevelopmental disorders, with a particular interest in the role of the non-coding genome. Using functional-genomics and computational approaches we aim to understand the gene-regulatory-landscape in cells representing neurodevelopment.
Our long-term goal is to translate our research findings to the clinic, where we aim to develop novel diagnostics and therapies focusing on the so far, so often, neglected non-coding regions of the human genome. Next to our interest in fundamental gene-regulation, we apply disease-modelling for neurodevelopmental disorders using genome-engineering, induced pluripotent stem-cells, brain-organoids, and zebrafish.
Our group, currently consisting of 12 members, is strongly embedded in the department, and forms an important bridge between research and clinic, ultimately leading to advancements for patients. Since 2017 we have published 33 papers (majority in top-10 journals). Describing new disease entities and mechanisms, have obtained > 3.8 million euro funding (including competitive grants from CURE Epilepsy, EpilepsieNL, ZonMw Veni, ZonMw Vidi). We have been awarded a number of prizes, including an KNAW Early Career Award 2021.
Full publication record of the PI (including previous publications in Cell, Nature and Cell Stem Cell) can be found here
. Relevant publications related to this project include:
Yousefi S et al: “Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance”.
Genome Med. 2021 Oct 19;13(1):162. doi: 10.1186/s13073-021-00980-1. PMID: 34663447
Barakat TS, Halbritter F, Zhang M, Rendeiro AF, Perenthaler E, Bock C, Chambers I: “Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells”. Cell Stem Cell. 2018 Aug 2;23(2):276-288.e8. doi: 10.1016/j.stem.2018.06.014.
Perenthaler E, et al : “Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases”.
Acta Neuropathol. 2020 Mar;139(3):415-442. doi: 10.1007/s00401-019-02109-6.
Sanderson et al: “Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking” Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459.