Center for Medical Genetics Center for Medical Genetics
Welcome to the Center for Medical Genetics
The Center for Medical Genetics Ghent has three main objectives: medical services, research and education. We provide our expertise for the diagnosis and care of patients with hereditary diseases.
We strive for a better understanding of these hereditary diseases and translate this knowledge in education in a variety of disciplines.

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Contact

Information about lab tests:
+32-9-332 24 77

Information about consultations:
+32-9-332 36 03

Events

f-TALES workshop 26-27 APRIL Leuven - Genomic Medicine

26 April 2018 - 12:00am

Genomic Medicine is a rapidly developing science-driven approach to health care. It potentially holds great benefits for patients, clinicians, heal

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News

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics.

30 November 2018

Hum Mol Genet. 2018 Nov 15. doi: 10.1093/hmg/ddy393. [Epub ahead of print] A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics. D'haene E, Bar-Yaacov R, Bariah I, Vantomme L, Van Loo S, Cobos FA, Verboom K, Eshel R, Alatawna R, ...

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CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments.

26 November 2018

ABSTRACTTargeted genome editing by CRISPR/Cas9 is extremely well fitted to generate gene disruptions, although precise sequence replacement by CRISPR/Cas9-mediated homology-directed repair (HDR) suffers from low efficiency, impeding its use for high-throughput knock-in disease modeling. In this study, we used next-generation sequencing (NGS) analysis to determine the effici...

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TBX2 is a neuroblastoma core regulatory circuitry component enhancing MYCN/FOXM1 reactivation of DREAM targets

22 November 2018

Abstract Chromosome 17q gains are almost invariably present in high-risk neuroblastoma cases. Here, we perform an integrative epigenomics search for dosage-sensitive transcription factors on 17q marked by H3K27ac defined super-enhancers and identify TBX2 as top candidate gene. We show that TBX2 is a constituent of the recently e...

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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

20 September 2018

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationAbstractThe etiological spectrum of ultra-rare developmental disorders remains to be fully defined. Chromatin regulatory mechanisms maintain cellular identity and function, where misregulation may lead to developmental defects. Here, we report pathogenic variations in...

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