DAY 2 : ULB 10.11.2023

Building C, level 4, auditorium CA.121 (salle "Gillet")  (Slides)

• 09:00-10:30 Patterns of Single Gene Inheritance (Ch.7, T&T)

• 10:30-11:00 Break

• 11:00-12:00 Lunch

• 12:00-13:30 Continued + mutations and polymorphisms (Ch.4)

• 13:30-14:00 coffee break

• 14:00-15:00 Genetic variation in populations (Ch.9)

• 15:00-15:30 coffee break

• 15:30-17:30 Epigenetics

9:00-13:30 Patterns of single gene inheritance

(Marc Abramowicz)

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

(Marc Abramowicz)

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.

Incidental findings.

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