Centrum Medische Genetica Centrum Medische Genetica
Welkom bij het Centrum Medische Genetica Gent
Het Centrum Medische Genetica Gent heeft drie belangrijke doelstellingen: medische dienstverlening, onderzoek en onderwijs. Wij stellen onze expertise ter beschikking voor de diagnose en zorg voor patiënten met erfelijke aandoeningen.
Daarnaast streven we naar een beter inzicht in deze erfelijke ziektes en vertalen deze inzichten binnen het onderwijs in een gevarieerd aanbod van disciplines.

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Contact

Informatie over laboratoriumtesten:
+32-9-332 24 77

Informatie over raadplegingen:
+32-9-332 36 03

Agenda

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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Nieuws

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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