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.

 

 

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 and myotonic dystrophy

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 Williams-Beuren syndrome; The 22q11 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

*  Congenital malformations; Defects of neural tube closure; Polygenic inheritance; Genetic and environmental factors

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) a seminar on each of 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

Check availability in Cercabib

Book

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  

Web page

OMIM (On-line Mendelian Inheritance in Man)

https://www.ncbi.nlm.nih.gov/omim/

Adaptation of theory classes for online and blending learning during the academic year 2020-2021. Provisions for blended learning apply only to first-year bachelor's degree students.

 

Les classes de teoria i seminaris presencial/no presencial han passat a ser en línia, excepte aquells seminaris amb activitats avaluables.  Theoretical lessons and seminars will be online, except for those seminars with evaluable activities.