Genetics (B-KUL-K07C9A)

3 ECTSEnglish13 Second term
POC Farmaceutische Wetenschappen

To gain knowledge and insight in the genetic causes of congenital and acquired disorders. To gain insight in the possibilities of genetic diagnostics ( pre-implantation, prenatal, postnatal) and genetic counseling. In addition, students have an idea of the ethical implications.  

Basic knowledge of molecular biology and cell biology

Activities

3 ects. Genetics (B-KUL-K07C9a)

3 ECTSEnglishFormat: Lecture13 Second term
POC Farmaceutische Wetenschappen

Basic principles of inheritance
Mendelian inheritance, dominant and recessive features and defects.
Non-Mendelian in heritance: epigenetic factors and imprinting
Multifactor disorders
Polymorphisms,  theory of evolution
 
Molecular basis of mono-gene disorders
Point mutations, deletions, inserions, inversions, intrachromosomal rearrangements and gene conversions.
Trinucleotide expansions
Somatic versus germinal mutations and germline mosaicism
Mucoviscidose
 
Chromosomal aberrations
Aneuploïdie, polyploïdie (uniparental), disomies,  trisomies, mosaicism, chimeres, …phenotypical implications are illustrated using exmples.
Numeric alterations in sex chromosomes
Translocations
Down syndrome
 
The sex chromosomes
X chromosome : X chromosome linked  monogenetic disorders
Y chromsome : phylogenetic origin
 
The mitochondrial genome
 
Molecular base of cancer, family cancers
Breast cancer
Colon cancer
Knudson hypothesis
Somatic mutations in oncogenes and tumor suppressor genes

Difference between diagnostic and predictive genetic research
Prenatal genetic research
Pre-implantation diagnostics
Expanded genetic carrier screening
Ethical considerations concerning genetic resarch
 

Slides available in Toledo.

Attending courses
Assignment

Evaluation

Evaluation: Genetics (B-KUL-K27C9a)

Type : Exam during the examination period
Description of evaluation : Written
Type of questions : Multiple choice, Open questions
Learning material : Course material


The exam will be based on what has been discussed in every course. Students will have to answer 4-6 open questions about different aspects of genetics. Those questions will be graded on 18 (out of 20 in total). Additionally, students will be given 4-6 multiple choice questions (no correction for guessing) which will evaluate their knowledge and insights on the course content. Students will be expected to gain a true insight in genetics, rather than to study by heart.