All courses will take place at UZBrussel, campus Jette, Laarbeeklaan 103, 1090 Jette

DAY 1: 11 October 2022: Genetics in Belgium                                 

9.00-9.15 Introducing the new assistants, welcoming them.

9.15-10.15 Presenting each center , and expertise of each center, Presenting the way we are trained in each center, Presenting the things “to do” as genetic trainee (BeSHG course, MaNaMa, plan de stage, dysmorphology meetings, ...) (slides)                  

10.15-11.00 Inviting the 2 presidents of the commission: Vincent & Koen : question about the training & recognition (feedback exam)                                                                        

11.00-11.30 Coffee Break

11.30-12.15 Isabelle Maystadt: present the issue of the reimbursements of clinical genetics consultations (slides)               

12.15-13.15 Lunch Break

13.15-14.15 Invite president of the College (Elfride Debaere) : the number of staff members : what about working in periphery hospitals in the future? + discussion with students                

14.15- 14.45 Coffee break     

14.45-16.00 Discussing difficult consultations (medical & ethical) to be prepared by students (1/center) – students invite at least one clinical geneticist from each center Coordinated by Saskia Bulk

16.00-17.00 Discussion topic. Expanded NIPT, how to integrate this into Belgian health care Coordinated by Laurens Hannes                                  


DAY 2: 12 October 2022: Genome diagnosis

Coordinator: Fransiska Malfait

Aims/learning objectives : 

-The student knows and is able to use in silico tools for genome analysis in clinical genetics.

-The student will learn the principles of variant classification

Handout : 

  • Sources of genetic material

Sources and extraction of RNA, DNA, protein, mitochondrial DNA, fibroblast culture, EBV, ..

  • Sequencing : from DNA to raw data to the variant list
  • The basis of some techniques are illustrated with the aim to understand how already in these first stages certain mutations may be missed
  • Types of variants that can be retrieved from exome/genome (e.g. SNV, CNV, other structural variation, microsatellites, …)
  • nomenclature of variants (deletions, insertions, etc.), when in italic or in capitals,
  • Variant interpretation in silico, in vivo, in vitro
  • In silico :


  • Genome Browser : ensembl and UCSC
  • Protein structure databases
  • Mutation databases : Clinvar, LOVD, other databases
  • Normal variation databases : GNOMAD, EXAC

Variant classification

  • ACMG rules for variant classification
  • Varsome, prediction programs
  • classification incorporating phenotypic information – HPO terminology
  • In vivo : segregation analysis

Clinical databases :

  • Orphanet, genereviews, omim, PUBMED, …
  • Data sharing : decipher, genematcher,
  • In vitro
  • Functional : splicing, structure of proteins,

How to write and read a clinical report !


9:30 – 10:30: Cytogenomic technologies for acquired and constitutional disorders - Annelies Dheedene (slides)

  • Karyotyping
  • FISH
  • QF-PCR
  • Shallow whole genome sequencing and microarray (CGH and SNP)
  • NIPT

10:30-10:45: break

10:45 – 12:15: Whole exome, whole genome sequencing and gene panel analyses – Sofie Symoens (slides)

  • Targeted/customized gene panels, trio vs single case WES, Mendeliome
  • BeGECS
  • PGT-M, PGT-SR and PGT-A and coPGT (Annelies Dheedene en Sofie Symoens) (slides)

12:15-15:45: lunch break

12:45 – 15:30: Internet resources for clinical genetics and genomics

  • Decipher, DGV, UCSC, NCBI
  • GnomAD, Clinvar, LOVD, UniProt, VarSome
  • Variants: variant classification for acquired and constitutional diseases (slides)

15:30-15:45: break

15:45 – 17u45: Exercises & educational cases: interpreting and reporting genetic analyses (slides)

DAY 3: 8 November 2022

UZ Brussel – Campus Jette, B010/011

9.00-12.30: Q&A session regarding the course content of Manama day 2 Coördinated by Sofie Symoens & Annelies Dheedene (UZ Gent)

12.30-13.30: Lunch Break

13.30-17.00: Nefrogenetics & urogenital malformations – develop competence in the diagnosis of genetic renal diseases

  • How to familiarize trainees with normal kidney development and congenital abnormalities, with Dr Aude Tessier, clinical geneticist, Centre of Human Genetics, Institut Pathologie et Génétique (slides)
  • Experience ordering and arranging for diagnostic genetic testing in chronic renal insufficiency. Pr Nine Knoers, clinical geneticist, Chair Department Genetics, University Medical Center Groningen (slides)
  • How to counsel patients regarding the pros and cons of genetic testing including ramifications on family members with heritable kidney diseases. Pr. Karin Dahan, clinical geneticist, Centre of Human Genetics, Institut Pathologie et Génétique (slides)
  • To provide trainees with focused clinical exposure in order to diagnose heritable kidney diseases and to identify patients who may benefit from the use of targeted therapy and/or kidney transplantation. Pr Johan Morelle, Service de Néphrologie des CUSL (UCLouvain) and Pr Laurent Weekers, Service de Néphrologie CHU-Liège (ULiège) (slides)

DAY 4: 6 December 2022 - Inborn Errors of Metabolism

9:15-9:30: Introduction (FG Debray, ULg) (slides)

9:30-10:15: IEM Intoxication type: aminoacids metabolism disoders (C. DeLaet, ULB) (slides)

10:15-10:45: Energy metabolism disorders: GSD and FAO defects (MC Nassogne, UCL)  (slides)

10:45-11:00: Break

11:00-11:30: Diet & drug therapies and emergencies in IEM (D. Roland, IPG) (slides)

11:30-12:00: Biochemical genetic lab in IEM (F. Boemer, ULg) (slides)

12:00-13:00: Lunch break

13:00-14:00: Miscellaneous: Porphyria, Metal metabolism disorders, and rare metabolic liver diseases (D. Cassiman, KUL) (slides)

14:00-14:45: Mitochondrial diseases (A. Vanlander, UGent) (slides)

14:45-15:00: Break

15:00-15:45: CDG syndromes (P. Witters, KUL) (slides)

15:45-16:30: Lysosomal storage diseases, peroxysomal diseases (F. Eyskens, UZA) (slides)

16:30-16:45: Conclusion (FG. Debray, ULg)


DAY 5: 7 February 2023 - Neurogenetics                            

Campus VUB, Jette – room B017


9:15-9:30: Introduction – Marije Meuwissen 

9:30-10:30: General concepts of brain development – Grazia Mancini (slides)

10:30-11:00: Introduction in neurological examination – Anna Jansen (slides)

11:00-11:15: Coffee/ tea break

11:15-12:00: Microcephaly – Grazia Mancini (slides)

12:00-12:45: A practical approach to malformations of cortical development – Anna Jansen (slides)               

12:45-13:45: Lunch break              

13:45-14:30: Macrocephaly – Grazia Mancini (slides)    

14:30-15:15: Cerebellar abnormalities - Marije Meuwissen                   

15:15-15:30: Coffee/ tea break 

15:30-16:30: Genetic epilepsy syndromes – Damien Lederer 

16:30-16:45: Conclusions – Marije Meuwissen

DAY 6: 7 March 2023 - Preconception Genetics, PGD, Reproductive Genetics

Campus VUB, Jette – room B017 - coordinator: Kathelijn Keymolen

9:15-9:45: PGT- introduction - Kathelijn Keymolen (slides)
9:45-12:45: PGT- laboratory approach

12:45-13:45: Lunch break                   

13:45-14:15: PGT- Post cycle counseling - Kathelijn Keymolen (slides)
14:15- 15:00: BeGECS - Sandra Janssens (slides)
15:00-15:15: Break
15:15-16:00: Preconception screening for everybody? - Bettina Blaumeiser (slides)

16:00-16:30: Discussion


DAY 7: 18 April 2023


9:00-9:30: Familial hypercholesterolemia – Pr Antoine Bondue (ULB)

9:30-10:00: Idiopathic pulmonary hypertension – Pr Antoine Bondue (ULB)

10:00-11:00 : Primary immunodeficiencies - Pr Jean-Christophe Goffard (ULB) (slides)

11:00-11:15: Hereditary angioedema - Pr Jean-Christophe Goffard (ULB) 

11:15-11:45: Coffee Break

11:45-12:30: Hereditary recurrent fever – Dr Anouk Le Goueff (CHU Lille) 

12:30-13:30: Lunch Break

13:30-14:00: Genetic red cell membrane disorders (hereditary spherocytosis...) - Pr Anne- Sophie ADAM (ULB) (slides)

14:00–14:30: Hemoglobinopathy (Sickle cell dis/trait, beta-thal, alpha-thal...) – Pr Béatrice GULBIS (ULB) (slides)

14:30–15:00: Coffee Break                   

15:00–15:30: Idiopathic pulmonary fibrosis – Pr Antoine Froidure (UCL) (slides)

15:30–16:00: Hereditary pulmonary emphysema – Pr Antoine Froidure (UCL)

16:00–17:00: Biliary atresia, arteriohepatic dysplasia and other genetic hepatic disorders - Pr Cassiman David (KUL) (slides)


DAY 8: 2 May 2023: Acquired Genetics of Solid Tumors (Morning) & Haematological Malignancies (Afternoon)


09:00–09:30: Introduction to Acquired Genetics of Solid Tumors - Isabelle Vanden Bempt (UZLeuven)          

09:30–10:15: Genetic testing on tumor tissue: needs and challenges from the perspective of a pathologist - Patrick Pauwels (UZA)

10:15–10:45: Coffee Break

10:45–11:30: Gene expression profiling in early stage breast cancer - Giuseppe Floris (UZLeuven)

11:30–12:30: Genetic tumor testing in the metastatic setting: the clinical perspective - Kevin Punie (GZA/ZAS – Campus Sint-Augustinus)

12:30–13:30: Lunch Break

13:30–13:45: Introduction to Acquired Genetics of Haematological Malignancies - Jolien De Bie / Lucienne Michaux (UZLeuven) (Slides)

13:45-14:30: Usage of karyotype and arrays for the diagnosis of Haematological Malignancies - Nadine Van Roy (UZ Gent) (Slides)

14:30-15.15: Importance of genetics in acute leukemia - Carlos Graux (UCL Mont-Godinne) (Slides)

15:15–15:30: Coffee Break

15:30–16:15: Minimal residual disease in the follow-up of Acute lymphoblastic Leukemia and Multiple Myeloma - Barbara Depreter (UZ Brussel)  (Slides)

16:15– 17:00: Importance of genetics in lymphoma - Pascale De Paepe (AZ St Jan Brugge)  (Slides)