Teaching plan for the course unit



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General information


Course unit name: Genetic Disorders

Course unit code: 365420

Academic year: 2021-2022

Coordinator: Roser Corominas Castiñeira

Department: Department of Genetics, Microbiology and Statistics

Credits: 6

Single program: S



Estimated learning time

Total number of hours 150


Face-to-face and/or online activities



-  Lecture





-  Seminar




Supervised project


Independent learning






For students coming from other Universities (Erasmus, etc.), basic knowledge on genetics, biochemistry and cell biology is highly advisable in order to follow the contents of the subject appropriately.



Competences to be gained during study



CB5. Learning skills that are necessary to undertake further study with a high degree of autonomy.


CG2. Capacity for learning and responsibility (capacity for analysis and synthesis, to adopt global perspectives and to apply knowledge in practice, and capacity to take decisions and adapt to new situations).


CB3. Ability to gather and interpret relevant data (usually within the field of study) to inform judgements that include reflection on relevant social, scientific or ethical issues.


CE11. Ability to explain the structure and function of genes and heredity, the basic molecular principles and associated mechanisms of gene expression, and the variability and evolution of genes in specific populations, ability to identify the role of genes in human disease and to classify genetic anomalies, understanding of the principal methods for diagnosing common genetic disorders, and capacity to apply basic techniques for genetic laboratory work.

Learning objectives


Referring to knowledge

Describe the genetic and physiopathological bases of monogenic diseases due to occasional mutations, dynamic mutations and large reordering of the genetic material. Genomic, chromosomal and imprinting diseases. Multifactorial diseases. Pathologies of the mitochondrial genome.

As far as possible, the gender perspective will be incorporated into the developent and activities of the subject.



Teaching blocks


1. Introduction

*  Introduction; Development of the concept of congenital disease; Types of congenital diseases; Strategies for the study and diagnosis of genetic diseases; Programs used to detect and screen genetic diseases at the prenatal, neonatal and adult levels; Strategies for the treatment of genetic diseases; Animal models for the study of genetic diseases

2. Autosomal recessive diseases I

*  Autosomal recessive diseases and loss of function; Cystic fibrosis; Phenylketonuria; Galactosemia; Tay-Sachs disease

3. Autosomal dominant diseases

*  Autosomal dominant diseases and loss of function: familial hypercholesterolemia, GLUT1 deficiency; Dominance due to gain of function: familial amyloidotic polyneuropathy; Dominance due to dominant-negative mutants: generalised thyroid hormone resistance syndrome; Osteogenesis imperfecta

4. Mitochondrial genome diseases

*  Specific concepts: heteroplasmy; Point-mutation-based diseases (LHON, MERFF, MELAS); Deletion-based diseases (Kearns-Sayre syndrome, CPEO); Mitochondrial genome depletion syndromes; Mitochondrial pathologies with Mendelian basis

5. X-linked diseases (recessive)

*  Duchenne muscular dystrophy; Gene identification; Allelic and clinical heterogeneity; The dystrophin protein and the DPC complex; Molecular diagnosis; Therapy

6. X-linked diseases (dominant)

*  Fragile X syndrome; Demonstrations in women; The FMRP protein; Nucleotide triplet repeat diseases; Huntington’s disease.


7. Genetic heterogeneity

*  The example of hearing loss; Monogenic forms: dominant or recessive, autosomal and X-linked

8. Chromosomal diseases

*  Chromosomal aberrations; The Down syndrome; Down syndrome critical region (DSCR); Other chromosomopathies

9. Genomic diseases

*  The 22q11.2 Deletion Syndrome; Other contiguous gene syndromes; Low copy repeats (LCR); Diagnosis

10. Imprinting

*  Concept; Imprinting and human pathologies; The Prader-Willi and Angelman syndromes; Molecular mechanisms; The Beckwith-Wiedemann syndrome

11. Complex diseases I

*  Genetics of complex diseases; Polygenic inheritance; Genetic and environmental factors; Polygenic Risc Score.

12. Complex diseases II

*  Genetic bases of common diseases in adults; Association analysis; Genome-wide association (GWA)

13. Multigenic and multifactorial diseases of metabolism

*  Genetic bases of obesity and type II diabetes; Gene-environment interaction in the multigenic diseases of the metabolism



Teaching methods and general organization


Lectures and specific seminars on the contents of the programme.

Interactive activities: practical training in the use of databases for genetic diseases.

Discussion of articles and clinical cases, and presentations by students.


*The proposed teaching methodology may experience some modifications depending on the restrictions to face-to-face activities enforced by health authorities.



Official assessment of learning outcomes


— The following continuous assessment activities (40% of the final grade) are assessed:

a) a self-assessment test on the contents, mid-semester;
b) a test to assess the ability to track a scientific conference on a specific topic of the course;
c) a questionnaire on the use of the OMIM database on hereditary diseases;
d) a questionnaire and a discussion session on direct-to-consumer testing;
e) seminars on the teaching blocks in the second half of the programme, consisting of the critical analysis (individually or in groups) of a related scientific publication, and an oral presentation (or written assignment).

— Written examination (multiple-choice test) including theory and seminars (60% of the final grade).

*Students’ assessment may experience some modifications depending on the restrictions to face-to-face activities enforced by health authorities.


Examination-based assessment

Written examination (multiple-choice test) including theory and seminars (100% of the final grade).

*Students’ assessment may experience some modifications depending on the restrictions to face-to-face activities enforced by health authorities.



Reading and study resources

Consulteu la disponibilitat a CERCABIB


READ, A.P.; DONNAI, D. New clinical genetics. 3rd ed. Banbury : Scion, 2015

Human molecular genetics. Fifth edition. 2019. Tom Strachan and Andrew Read

https://cataleg.ub.edu/search~S1*cat?/Xhuman+molecular+genetics&searchscope=1&SORT=D/Xhuman+molecular+genetics&searchscope=1&SORT=D&extended=0&SUBKEY=human+molecular+genetics/1%2C376%2C376%2CB/frameset&FF=Xhuman+molecular+genetics&searchscope=1&SORT=D&1%2C1%2C  Enllaç

Web page

OMIM (On-line Mendelian Inheritance in Man)