The goal of this course is to provide the basic knowledge (see below) that is essential for those students who direct their professional career to areas of medicine where it is necessary to understand the molecular foundation of the pathological process. Genes, as the ultimate determinants of cellular function, are also often the cause for the molecular and cellular alterations that define a pathological framework. Many diseases of uncertain or unknown etiology at this time will surely find an explanation at the molecular level, either as a direct result of somatic genetic alterations, or by the greater predisposition of a particular genetic constitution. In any case, gene therapy will soon be a key element of medical practice, and the medical professional must now know its theoretical basis and, in the near future, its practical ones.

*Hours Student = Hours of class attendance + hours of homework

• 10 Genetic information, expression and regulation
• 11 Heredity
• 27 Manipulation of materials and basic laboratory techniques

Module 1. Structure and complexity of the human genome 4h

1.1 Nucleic Acids
1.2 DNA condensation. Chromatin and chromosomes
1.3 Structure of the gene at the molecular level
1.4 Levels of complexity of the human genome

Module 2. Maintenance and integrity of the human genome 4h

2.1 Basic mechanisms of DNA replication
2.2 Telomere termination and maintenance
2.3 Recombination and transposition
2.4 Mutations: types and causative agents
2.5 Repair mechanisms

Module 3. Gene expression 6h

3.1 The flow of genetic information
3.2 Transcription
3.3 The processing of eukaryotic messenger RNAs: "capping", polyadenylation and "splicing"
3.4 The genetic code
3.5 Main molecular components in the process of translating messenger RNAs to proteins
3.6 Translation

Module 4. Regulation of gene expression 4h

4.1 General concepts
4.2 Transcriptional regulation
4.3 Epigenetics
4.4 Posttranscriptional regulation
4.5 CRISPR and gene therapy

Module 5. Genetic Analysis 7h

5.1. Chromosomes and inheritance: Mitosis and Meiosis
5.2. Inheritance patterns in human families
5.3. Genetic variability. Mutations
5.4 Human genome mapping
5.5 Linkage analysis
5.6 Basic concepts of epigenetics

Module 6. Genetic Pathologies 6h

6.1 Chromosomopathies
6.2 Hereditary monogenic diseases
6.3 Mitochondrial inheritance
6.4 Dynamic mutations

Module 7. Population genetics 5h

7.1 Concept of the Mendelian population. Genotypic and phenotypic frequencies. Hardy-Weinberg equilibrium, deviations and practical applications
7.2 Basic concepts of developmental genetics
7.3 Basic concepts of cancer genetics
7.4 Evolutionary medicine

Module 8. Genetic diagnosis 4h

8.1. Chromosomal diagnosis (karyotype)
8.2. Molecular diagnosis (direct and indirect)
8.3. Genetic advice and ethical aspects

Problem Sessions

Problems / exercises M5 + 6 4h
Problems / exercises M7 3h
Problems / exercises M8 3h

Computer classroom sessions

PCR and sequencing of the human genome 2h
Ensembl: human genome database 2h
karyotype simulations 2h

Laboratory session

DNA analysis by PCR and electrophoresis 4h

A part of the course is developed in sessions of one hour lectures about theoretical concepts. These concepts are reinforced with problem sessions in medium size groups. Laboratory sessions are dedicated to the analysis of a human polymorphism at the molecular level. There will be also some work with online computer tools and access to a human genome database.

During the course, there will be two written tests consisting of a part of multiple-choice questions on theoretical and practical knowledge and a part of planning and solving exercises / problems. Each part will have a different weight according to the following scheme:

First test

Contents:

• Theory Modules 1-4
• Computer classes 1-2
• Laboratory sessions

Second test

Contents:

• Theory Modules 5-8
• Problem sessions M5-M8
• Computer class 3

The scores (points) obtained in both tests are added to obtain a final score. To pass the course it is necessary to obtain 50 points in the final score. Those who fail to reach this threshold will be given a second chance in September.

• Griffiths A, et al. (2008), Genética (9º Ed) Ed. MacGraw Hill
• Pierce, B (2006), Genética, un enfoque conceptual. Editorial Médica panamericana.
• Nussbaum RL, et al. (2004), Thompson & Thompson, Genética en Medicina. Ed Masson
• Solari AJ. (2004). Genética Humana, fundamentos y aplicaciones en Medicina. Editorial Médica Panamericana
• Alberts B, et al. (2014), Molecular Biology of the Cell. Garland Science
• Alberts B, et al. (2014), Essential Cell Biology. Garland Science
• Lewin B, Molecular Biology (Full Edition) and Genetics. Jones & Bartlett
• Strachan T, and Read AP (on-line). Human Molecular Genetics 2. Garland Science (ncbi.nlm.nih.gov/books/bv.fcgi?rid=hmg)
• Watson JD, et al. (2008), Molecular Biology of the Gene. Benjamin-Cummings
• Lynn B. Jorde, John C. Carey, MPH and Michael J. Bamshad. Medical Genetics, 4th Edition, Mosby Ed 2010

Module 5. Section 5.6 Basic concepts of epigenetics is removed.

Module 7. Sections 7.2 Basic concepts of developmental genetics and 7.3 Basic concepts of cancer genetics are removed.

Laboratory practice is cancelled.

Modules 5 and 7, as well as the computer-assisted session on karyotype simulations will be carried out by live videoconference. These will be recorded and made available to students.

Modules 6 and 8 will be taught through recordings (videoconference in asynchronous mode) that the teacher will make previously and will make available on the virtual campus to be watched by the students.

At the end of modules 6 and 8, live videoconferences will be held for the resolution of doubts that may have arisen from the watching of the recordings.

The number of class hours (videoconference) of module 5 is expanded from 7 to 8 hours.

Module 7 is reduced from 5 to 4 hours.

Laboratory practice is suppressed.

All the exams of the subject will be online in writing using the virtual campus tests and questionnaires tool or orally using the videoconferencing tool. The September exam may be in the classroom.