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Genetics
Our role
Genetics is the study of the transmission of hereditary traits. In medicine it involves sequencing, "reading" and characterising the genome, that is, the totality of a person's genetic material (chromosomes and genes).
To learn more about the Genetics Centre, click here.
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![génétique](/sites/default/files/styles/parag_content_with_gallery_small/public/2023-12/erasme_genetique_27.02.2019_photo_2.jpg?h=f2fcf546&itok=3yEGzXRk)
![génétique](/sites/default/files/styles/parag_content_with_gallery_small/public/2023-12/erasme_genetique_27.02.2019_photo_33.jpg?h=16b768a2&itok=EOAz6RdU)
![génétique](/sites/default/files/styles/parag_content_with_gallery_small/public/2023-12/erasme_genetique_27.02.2019_photo_30.jpg?h=f2fcf546&itok=S2cNetRS)
Our speciality is transverse and concerns all medical disciplines and all ages of life. At present, our focus is on rare diseases. But in a near future genetics will be used increasingly for more common pathologies.
Our specialities
The ULB's Human Genetics Centre is organised in 5 sectors:
- Preconception genetics aims to determine the risk of transmitting a genetic disease to descendants. In the case of in vitro fertilization (IVF), the preimplantation diagnosis makes it possible to select and implant embryos that do not carry the said disease (examples: cystic fibrosis, spinal muscular atrophy, sickle cell anaemia, etc.)
- Prenatal genetics makes it possible to confirm or specify certain pathologies with which a foetus is already infected. Examples: Down syndrome, malformations, intellectual deficiency, etc.
- Paediatric genetics: More than 70% of rare diseases are paediatric. Genetics makes it possible to make or refine a diagnosis, to avert the development and/or complications of the disease or to propose a treatment.
- Adult genetics: A growing number of medical specialities have increasing recourse to genetic tests when treating certain diseases.
- Oncogenetics has two principal fields of action:
- Predictive genetics aims to detect and quantify hereditary risks of cancer, in particular within the same family. Example: mutations of BRCA-1 and -2 that predispose women to breast and ovarian cancer.
- Pharmacogenetics involves checking whether a patient carries a gene that would respond positively to (cancer) treatment.
Our team
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Our specialist doctors
Focus
The ULB's Human Genetics Centre analyses samples collected within the CHORUS network (that brings together the hospitals of the Brussels University Hospital (HUB), the Iris network and the CHIREC group) and the Tivoli and Ambroise Paré University Hospitals with a view to genetic testing. The department cooperates with each of the 7 Belgian genetic centres for certain tests.
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Research
The ULB's Human Genetics Centre carries out research on what genetic testing of the future could be:
- sequencing of the entire genome;
- methylome sequencing, which can reveal certain rare diseases;
- transcriptome analysis to identify what genes use what kind of cell;
- very long genome sequences to characterise complex zones and variants in the DNA.
Publications
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
- Authors : M. Marangoni et al.
- Journal : Genet Med. 2022 Feb;24(2):344-363. doi: 10.1016/j.gim.2021.09.016. Epub 2021 Nov 30. PMID: 34906519
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
- Authors : Sofia Papadimitriou et al.
- Journal : HGG Adv. 2022 Dec 2;4(1):100165. doi: 10.1016/j.xhgg.2022.100165. eCollection 2023 Jan 12. PMID: 36578772
A form of muscular dystrophy associated with pathogenic variants in JAG2
- Authors : Sandra Coppens et al
- Journal : Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. PMID: 33861953
Genetic testing in autoinflammatory diseases - past, current and future perspectives
- Authors : Anouk Le Goueff et al.
- Journal : Eur J Intern Med. 2022 Dec;106:71-79. doi: 10.1016/j.ejim.2022.08.020. Epub 2022 Sep 22. PMID: 36153184 DOI: 10.1016/j.ejim.2022.08.020