DAY 1 : , KUL Friday 13 October, 2023
Aula Wolfspoort, KU Leuven Huis Bethlehem, Schapenstraat 34, Leuven
DAY 2 : ULB 10.11.2023
Aud F.2-104, Campus Erasme, 808 Lennik St, 1070 Brussels
9:30-11:00 Patterns of single gene inheritance
Monofactorial genetic diseases. Penetrance, expressivity. Dominant, recessive, and X-linked inheritance, and why these models are approximations. Incidence and prevalence. Pseudoautosomal inheritance. Lyonisation (partly). Mitochondrial inheritance (partly). Anticipation. New mutations. Germ-line and soma. Somatic mosaics, germ-line mosaics. Pedigrees. Intrafamilial and interfamilial variation. Genetic background.
Consanguinity, chances of homozygosity by descent. Consanguinity as common traditional practice. Inbred communities. Pseudodominance. Founder effect, overdominance. Uniparental disomy.
Genetic variation in individuals and populations: mutation and polymorphism
The life and death of a highly penetrant mutation (hemophilia). Wild type alleles, mutated alleles. The concept of neutral polymorphisms and minor mutations. Blood groups as an example of polymorphism. SNPs. CNVs. Hardy-Weinberg equilibrium, and factors that disturb it. Metapopulation. Mutations and diversity by change. Meiosis and diversity by assembly. Biological fitness. Positive and negative selection. Divergence and diversity.
The history of DF508. Most recent common ancestors. Coalescence. A schematic overview of the ascent of man. Gene tree, species tree. Trans-species polymorphisms. The "common disease, common variant" hypothesis. Haplotype blocks. HapMap. Effective population size. The special case of the Y chromosome.
Epigenetics (François Fuks)
1. Chromatin structure
1.a. Notions of chromatin structure.
1.b. Post-translational modifications of histones
1.c. DNA methylation: definition
1.d. Biological significations of epigenetics
2. Epigenetics : mechanistic insights
2.a. Crosstalks between histones modifications et DNA methylation:
the histone code hypothesis
2.b. Targeting and regulation of DNA methylation
3. Epigenetics and human diseases
3.a. DNA methylation and cancer
3.b. DNA methylation and neurodevelopmental syndromes (Rett and ICF)
3.c. Deacetylase and DNA methyltransferases inhibitors as anti-cancer epigenetic drugs
Last session = 16:30-17:30
DAY 3: , UG 08.12.2023
Human gene mapping and disease gene identification
Mapping of human genes: principles and applications (Paul Coucke and Andy Willaert)
Practical exercises with lod score calculations (Paul Coucke and Andy Willaert)
The molecular, biochemical and cellular basis of genetic disease
General introduction (Paul Coucke)
Examples of monogenic diseases caused by mutations in different classes of proteins:
Inborn errors of metabolism (Olivier Vanakker)
Mutations in developmental genes (Bert Callewaert)
Mutations in extracellular matrix proteins (Sofie Symoens)
Mutations in signaling pathways (Bart Dermaut)
DAY 4: IPG 19.01.2024
Disorders of the autosomes (cytogenetics/molecular abnormalities and clinical aspects) (Chap. 6, part 1) Damien Lederer and Stéphanie Moortgat
11:00-11:15 coffee break
11:15-12:45 Disorders of gonadal and sexual development (gonadal embryogenesis, cytogenetics/molecular abnormalities, and clinical aspects) (Chap. 6, part 2) Isabelle Maystadt
13:30-15:00 Developmental Genetics and Birth defects (Chap. 14) Aude Tessier and Julie Desir
15:00-15:30 coffee break
Treatments of metabolic diseases (Chap. 13, part 1) Dominique Roland
DAY 5: UCL 09.02.2024
Auditoire central C (to be confirmed !)
UCL – Medical Faculty (Cliniques universitaires Saint Luc),
Avenue Mounier, 51, B-1200 Brussels
(by metro: line 1 towards Stockel, ALMA station
> Auditoires centraux > Auditoire C)
08.45-09.00 Registration (signatures of presence)
DEVELOPMENTAL GENETICS and BIRTH DEFECTS (relates to Thompson 7th ed chptr 14)
09.00-09.05 Introduction: Pr. Miikka Vikkula
09.05-09.35 Birth defects: approach to syndromology: Pr. Yves Sznajer
09.35-10.20 Regulators of development: HOXs etc.: Pr. René Rezsohazy
10.20-10.30 Q & A
10.30-10.50 Coffee & Tea
10.50-11.25 Vascular anomalies and overgrowth syndromes: Dr. Pascal Brouillard
11.25-11.50 Cleft lip and palate: Pr. Nicole Revencu
11.50-12.00 Q & A
CANCER GENETICS and GENOMICS (relates to Thompson 7th ed; chptr 16) Introduction to Cancer
12.00-12.05 Introduction: Pr. Miikka Vikkula
12.05-12.30 Molecular basis of somatic oncogenesis: Pr. Nisha Limaye
12.30-12.55 Hereditary basis of cancer – specifics for genetic counseling: Dr. Anne De Leener
12.55-13.00 Q & A
Hereditary cancers :
13.40-14.20 Inherited breast and ovarian cancer: Pr. François Duhoux
14.20-14.35 Other inherited cancer predispositions Dr. Anne De Leener
14.35-15.00 Inherited colon cancer: Dr. Anne De Leener
15.00-15.10 Q & A
15.10-15.30 Coffee & Tea
15.30-15.50 Hematological malignancies: molecular pathogenesis of AML, as example. Dr. Violaine Havelange
15.50-16.10 Paragangliomas and pheochromocytomas Pr. Alexandre Persu
16.10-16.20 Q & A
16.20-16.50 Biomarker-driven clinical trials: Pr. Jean-Pascal Machiels
16.40-17.00 Q & A
DAY 6: UA 15.03.2024
Genetics of common disorders with complex inheritance
Elementary concepts of multifactorial diseases
Concepts in complex genetics: from Fisher to GWAS
Guy Van Camp
Osteoporosis as paradigm for studies into complex diseases
Wim Van Hul
Of mice and human genetics
Web resources and datamining in genetics
Geert Vandeweyer, Wim Wuyts
DAY 7: ULg 26.04.2024
Pharmacogenetics and pharmacogenomics
Pharmacogenetics (Vincent Bours)
- metabolic enzymes and polymorphisms.
- Polymorphisms and drug transporters and targets.
- Genetic conditions generating unexpected side effects.
- Ethnic differences and clinical consequences.
Clinical aspects of dysmorphology (Saskia Bulk).
The immune system
Immune genetics (Stéphanie Humblet (KULeuven), Sabine Franke )
The HLA complex .
inherited immune defects.
Gene therapy in relation with immune defect.
acquired alterations of IGH and TCR loci in lymphoproliferative disorders.
DAY 8: VUB 17.05.2024
Place to be: VUB, Campus Jette, Faculteit Geneeskunde & Farmacie
Students must contact the Program Organizing Committee (POC) member at the institution where they registered. Each student must produce a personal work on a genetic subject, under the supervision of a member of the Teaching College from his registration center. The contents should be equivalent to a publication in a peer-reviewed scientific journal as first author, or to a thorough review of a genetic topic presented to an interdisciplinary seminar. The additional must produce a written report. The additional work amounts to 2 ECTS.