Duration
15h Th
Number of credits
| Master in medicine (180 ECTS) | 2 crédits |
Lecturer
Language(s) of instruction
French language
Organisation and examination
Teaching in the second semester
Schedule
Units courses prerequisite and corequisite
Prerequisite or corequisite units are presented within each program
Learning unit contents
This clinical genetics course presents the main applications of genetics in modern medical practice, including the identification of genetic disorders, their molecular causes and pathophysiological mechanisms, potential treatments (preventive, curative, and/or palliative), the study of their transmission, and associated family genetic counseling, including the risks of recurrence and the means implemented to prevent them. Topics covered include developmental anomalies, congenital malformations and prenatal diagnosis, syndromology and monogenic disorders, oncogenetics, and cancer predisposition syndromes. In this course, fundamental concepts are illustrated with prototypical examples from pathology, viewed through the lens of genetic counseling and its associated ethical considerations. In addition to the role of genetics in various medical specialties, the course also specifically addresses syndromic conditions that typically fall under the purview of medical genetics (e.g., chromosomal abnormalities). Finally, these concepts are applied to some common (intellectual disability) or prototypical (neurodegenerative diseases) situations arising from neurological pathology.
Outline
Chapter 1. Introduction and basis of genetic counseling
- Human Genetics, Medical Genetics, and Genetic Counseling
- Inheritance modes : Review
- The family pedigree, Risk calculation, and Bayes' Theorem
- Dysmorphology et Syndromology
- Elements of Deontology and Ethics
- Conventional cytogenetics, numerical and structural chromosomal abnormalities
- Molecular cytogenetics and cryptic chromosomal abnormalities
- Recurrent microdeletion syndromes
- Novel cryptic chromosomal abnormalities, Comparative Genomic Hybridization (CGH)
- Micodeletion, microduplication et Copy Number Variations (CNV)
- Contiguous gene syndromes
- Imprinting in cytogenetic abnormalities
- Nomenclature and Impact of variants: consequences regarding inheritance
- Dominant disorders, haploinsufficiency, gain-of-function mutations, and dominant-negative effects
- Recessive disorders and loss-of-function variants
- Allelic diversity, genotype/phenotype correlations, and genetic heterogeneity
- Epigenetic abnormalities
- Consanguinity and homozygosity mapping
- Next generation sequencing technologies, exome and genome studies
- Genetic predisposition to cancer: principles
- Genetics of breast cancer
- Genetics of colorectal cancer: familial polyposis and Lynch syndrome
- Other genetic predisposition syndromes to cancer
- Preconception counseling and prenatal screening
- Non-invasive prenatal screening
- Prenatal diagnosis and medical termination of pregnancy
- Preimplantation Genetic Testing (PGT)
- Intellectual disabilities
- Biochemical genetics and Inborn Errors of Metabolism
- Neurocutaneous syndromes and phacomatosis
- Neurodegenerative disorders : Huntington disease and Alzheimer diseases
Learning outcomes of the learning unit
- To understand the specificities of genetic counseling
- To know how to identify the main referral reasons (by frequency) for a patient seeking genetic counseling
- To understand the contribution of genetics to refining therapeutic strategies and in preventive medicine
- To understand and be able to define dysmorphology and syndromology
- To know how to draw up and interpret a family pedigree
- To understand and be able to estimate the risk of intrafamilial recurrence
- To define and understand the different types of cytogenetic abnormalities
- To know and be able to explain the concepts of expressivity and penetrance
- To know the concept of mosaicism in genetics and understand its implications
- To understand and be able to explain the difference between cytogenetics and molecular biology, between a quantitative genomic abnormality and a monogenic condition
- To understand the pathophysiological mechanisms that result from a mutation and understand how they determine the mode of inheritance of a genetic condition
- To know and understand the concepts of haploinsufficiency, gain of function and the dominant negative effect of mutations
- To understand the principle of genotype-phenotype correlation
- To know how to critically relate a genetic analysis to a clinical presentation
- To know the indications for preconception counseling
- To know and understand the concept of germline mosaicism and its implications for genetic counseling
- To know and understand the differences between prenatal screening and prenatal diagnosis
- To know the different prenatal diagnostic options, their disadvantages and advantages
- To understand non-invasive prenatal testing
- To know and understand the indications for preimplantation genetic diagnosis
- To understand the classification of inborn errors of metabolism and the associated therapeutic principles
- To be able to apply these different concepts to the problems of intellectual disability, neurocutaneous syndromes, and neurodegenerative conditions
Prerequisite knowledge and skills
A good understanding of the concepts of general genetics, molecular biology and special medical genetics.
Planned learning activities and teaching methods
Mode of delivery (face to face, distance learning, hybrid learning)
Face-to-face course
Further information:
Face to face
Course materials and recommended or required readings
Platform(s) used for course materials:
- eCampus
- MyULiège
Further information:
Ppt slides posted on eCampus or MyUliege (podcasts)
Exam(s) in session
Any session
- In-person
written exam ( multiple-choice questionnaire, open-ended questions )
Further information:
Multiple-choice questions (true/false)
Open-ended questions
Work placement(s)
Organisational remarks and main changes to the course
Contacts
Prof F-G. Debray
Prof V. Bours
Mme M. Carlino : genetique.humaine@chuliege.be