4.1: Competencias Básicas / Basic skills:

• Critical Analysis and Interpretation of Genomic Information: Students will develop the ability to analyze and interpret genomic data, understanding the composition, characteristics, and variability of the human genome. This competency includes the critical evaluation of genetic information, questioning assumptions, and drawing informed conclusions about genetic data.
• Practical Application of Genetic Techniques: Through practical and laboratory programs, students will gain hands-on experience in genetic problem-solving. They will apply theoretical knowledge to real-world scenarios, performing genetic diagnoses using methodologies such as DNA extraction, CRISPR-Cas9 gene editing, and Sanger sequencing.
• Effective Communication of Genetic Concepts: Students will learn to effectively communicate complex genetic concepts both orally and in writing. This competency involves the ability to convey scientific information clearly to diverse audiences, including providing genetic counseling and discussing ethical issues related to human genetics.
• Ethical Awareness and Continuous Learning: Students will develop an ethical and reflective sense in their professional practice, addressing ethical issues related to genetic privacy, genome editing, and healthcare decision-making. They will also recognize the importance of continuous updating and adaptability to scientific advances in the rapidly evolving field of genetics.

4.2: Competencias Específicas / Specific Competencies :

• Ability to analyze and interpret genomic information, understanding the composition, characteristics and variability of the human genome.
• Ability to perform genetic diagnoses, applying specific methodologies, understanding concepts such as penetrance, expressivity and types of inheritance.
• Competence in the management of genomic databases, with emphasis on the use of tools such as OMIM, to obtain relevant information on genetic diseases.
• Ability to apply advanced genetic techniques, including gene editing using CRISPR-Cas9, as well as forensic genetics and prenatal diagnosis techniques.
• Competence in the interpretation of genetic results, understanding the clinical and biological implications of the identified genetic variants.
• Ability to provide genetic counseling, considering ethical aspects and effectively communicating genetic information to individuals and families.
• Competence in the study of genetic diseases, differentiating between monogenetic, polygenetic and rare diseases, as well as understanding the genetic bases of cancer.
• Ability to integrate genomics and transcriptomics data, and apply artificial intelligence techniques for the prediction of genetic diseases and diagnosis.
• Awareness and understanding of ethical issues related to human genetics, including genetic privacy, genome editing, and ethical healthcare decision-making.
• Competence in carrying out laboratory practices, including DNA extraction, DNA fingerprinting, directed mutagenesis and Sanger sequencing.

4.3: Competencias Transversales / Transversal Competencies:

• Students acquire the ability to critically analyze and evaluate genetic information, questioning assumptions and drawing informed conclusions.
• Through practical and laboratory programs, students develop the ability to address and solve genetic problems in a practical way, applying the theoretical knowledge acquired.
• The exploration of genomic databases and the application of genetic diagnosis techniques in the practical program promote research skills and search for relevant information.
• Students learn to effectively communicate complex genetic concepts both orally and in writing, facilitating the transmission of scientific information to diverse audiences.
• Carrying out practical and laboratory activities promotes collaborative work, where students must coordinate and share responsibilities to achieve common objectives.
• The section on Bioethics and Genetics addresses ethical issues related to human genetics, helping students develop an ethical and reflective sense in their future professional practice.
• Since genetics is a constantly evolving field, students become familiar with the importance of continuous updating and adaptability to scientific advances.
• Practical and laboratory programs allow students to practically apply the theoretical knowledge acquired, strengthening the connection between theory and real application.

Lectures

1. Introduction to Human Genetics
   • The human genome: composition and characteristics.
   • Human Genome Project and the human pangenome.
   • Genomic databases.
   • Genomic technologies: Whole Genome/Exome, RNA and ChIP sequencing.
2. Functional Elements of the Human Genome
   • Karyotype. Types of inheritance and their mechanisms.
   • Diversity of genetic sequences: polymorphisms and variants/mutations.
   • Gene regulation: Structure and expression of genes.
   • Epigenetics.
   • DNA repair mechanisms.
3. Human Genetic Inheritance
   • Gametogenesis and mutagenesis. Genetic causes of infertility.
   • Genomic inbreeding.
   • Genetic screening tests in the population.
4. Clinical Genetics
   • The role of genetics in health biology.
   • Genetic diagnosis: objective and methodology. Penetrance and expressiveness.
   • Applications of genetic diagnosis: prenatal, preimplantation and presymptomatic diagnosis, diagnostic confirmation and carrier study.
   • Monogenetic and polygenetic diseases.
   • Rare diseases. Aneuploidy. Down syndrome and other trisomies. Fragile X syndrome.
5. Cancer Genetics
   • Genetic bases of cancer.
   • Teratogenic agents and clonal evolution of cancer.
   • Proto-oncogenes and tumor suppressor genes.
   • Nucleotide, chromosomal and cytogenetic instability of cancer.
6. Forensic Genetics
   • Techniques and applications of genetic identification in criminology.
   • Parenting techniques and applications.
7. Personalized genomics
   • Genetic factors associated with aging.
   • Nutrigenetics and epigenetic rejuvenation.
   • Genetics of Intelligence and Mental Health
   • Other relevant associations with health. Studies with twins.
8. Genetic Therapy in Humans
   • Fundamentals of gene therapy. Gene addition and gene editing (silencing and correction).
   • Gene cloning and on-demand editing: CRISPR-Cas9.
   • Pharmacogenetics: Precision medicine.
9. Applications of AI in Human Genetics
   • Integration of genomics and transcriptomics data.
   • Prediction of genetic diseases and diagnosis.
10. Bioethics and Genetics
    • Genetic testing, discrimination and insurance decisions.
    • Editing of the human genome for non-medical purposes and "babies on demand."
    • Genetic dating. Genetic privacy. Regulatory frameworks and ethical guides.

Practical program:

1. Open access genomic databases.
2. Diagnosis and genetic counseling. Selection, annotation, and analysis of genetic variants. Analysis of genealogies and determination of inheritance pattern.
3. Forensic genetics. Resolution of criminal and paternity cases with genetic techniques.
4. The human karyotype. Identification of the most common numerical chromosomal abnormalities.
5. Gene editing using CRISPR-Cas9.

Practical laboratory program:

1. DNA extraction from human samples.
2. DNA fingerprinting with restriction enzymes.
3. PCR-directed mutagenesis for the generation of variants.
4. Sanger sequencing applied to the identification of variants in human genes.

Library of the University of Salamanca: https://bibliotecas.usal.es/brumarioform

List of electronic books on human genetics topics: https://www.ncbi.nlm.nih.gov/books/ Spanish Society of Genetics (SEG): http://www.segenetica.es/

Spanish Association of Human Genetics (AEGH): http://www.aegh.org/

The European Society of Human Genetics (ESHG): https://www.eshg.org/home

National Human Genome Research Institute (NHGRI): https://www.nih.gov/about-nih/what-we- do/nih-almanac/national-human-genome-research-institute-nhgri

Online Mendelian Inheritance in Man (OMIM): http://www.omim.org/ Genetics Home Reference: http://ghr.nlm.nih.gov/

GARD. Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/

Orphanet, portal for rare diseases and orphan drugs: https://www.orpha.net/consor/cgi- bin/index.php

GeneCards: http://www.genecards.org/

Gene Names: www.genenames.org

GeneReviews: http://www.genereviews.org/

Criterios de evaluación / Evaluation criteria:

FIRST CALL:

Theoretical: 80% final exam Practical: 10% exam

Seminars: 10% tests

If the average grade of the three parts is less than 5 out of 10, the student is failed and must repeat with an exam in the LAST CALL those parts of the course not passed with at least 50% of the grade they represent.

LAST CALL:

Theoretical: 80% final exam Practical: 10% exam

Seminars: 10% tests

If the average grade of the three parts is less than 5 out of 10, the student is failed.

1. Sistemas de evaluación / Evaluation systems:
   1. The written theoretical-practical exams will include multiple choice questions and/or problems.
   2. The evaluation of the practices will include a multiple-choice exam.
   3. The evaluation of seminars will consist of online tests.

Consideraciones generales y recomendaciones para la evaluación y la recuperación / General considerations and recommendations for evaluation and recovery:

• The final grade will be the sum of the grades obtained in the different sections.
• To pass the course, it will be necessary to obtain an overall grade equal to or greater than 5 out of 10.
• For students who do not pass in the FIRST CALL, the grades obtained will be kept for the FINAL CALL, if they are equal to or greater than 5 out of 10.
• Students who do not take the final exam in the FIRST CALL or in the FINAL CALL will be recorded with graded as NOT PRESENTED.

Recommendations:

• Attendance at all theoretical and practical classes.
• Continued study of the course.
• Participation in problem and practice seminars.
• Periodic consultation of the recommended bibliography.
• Talk to the professor any difficulties or issues that may arise during the course.