Transversal and generic skills

The subject of Human Genetics contributes to the development of various transversal and generic skills that are fundamental both in the academic field and in professional life. Some of these competencies are highlighted below:

• 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.

• 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.

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.

1. The OMIM database (Online Mendelian Inheritance In Man) and other open access genomic databases on the Internet.
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.

1. Saliva DNA extraction.
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/

The course is taught through a combination of lectures, seminars and practices, carried out entirely in English. It is recommended to have at least a B1 level of English. It is compulsory to have passed general genetics, and strongly recommended to have knowledge in molecular genetics, genetic engineering and related genomics courses.

Through theoretical classes, practical classes and seminars, the aim is to provide students with training in Human Genetics.

Lectures: Power Point presentations will be used, which will be available to students on the Studium Virtual Campus. Classes will be interactive, discussing with students the aspects that present the most difficulties or raise the most controversy.

Seminars: Topics related to theoretical classes will be discussed as an inverted class. At the beginning of the course, students must choose and develop a human genetics topic in small groups. The groups will present their work at the beginning of class and the rest will ask questions.

Questionnaires: Students will complete different online questionnaires on theoretical topics as part of the continuous evaluation and the hours dedicated to autonomous work.

Practical classes: The professor will present the content of the practice, direct its execution, resolve any doubts that may arise and discuss the results obtained, encouraging the participation of students in the analysis of the data.

Tutorials: These will guide and supervise the autonomous work of the students individually or collectively.

ASSESSMENT

1. Evaluation of Theoretical Knowledge (60% of the final grade): An evaluation of the concepts worked on in the theoretical sessions will be carried out through a written test at the end of the semester in the ordinary call. There will also be an extraordinary call for those who do not appear in the ordinary session, those who have failed in the ordinary session or those people who want to raise their grade. This test will include multiple choice questions, representing 60% of the final grade for the subject.
2. Evaluation of Practical Knowledge (40% of the final grade): The evaluation of practical knowledge will represent 40% of the final grade for the subject. This will be broken down into two components:
   1. Genetic Problems (30%): Online questionnaires will be carried out at the end of each topic. This test will evaluate the student's ability to face and solve genetic problems, contributing 30% of the final grade.
   2. Achievement in the Informatics & Laboratory (10%): Performance will be evaluated considering the grade obtained through a questionnaire after completion of these classes (10% of the final grade). Attendance at the laboratory sessions is mandatory.

Additional considerations:

• 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, as long as the grade for the theoretical and practical knowledge is, independently, equal to or greater than 4 out of 10. Otherwise, they can retake the test one more time.
• For students who do not pass in the first call, the theoretical and practical grades obtained will be kept for the second call, as long as they are equal to or greater than 4 out of 10.
• The grade for the laboratory work will be maintained for the next course if it is equal to or greater than 5 points out of 10.
• Students who do not take the final exam in the first call or in the second call will be recorded with the note NOT PRESENTED.

• The written theoretical-practical exams will include multiple choice questions and/or problems.
• The evaluation of the practices will include attendance, attitude and multiple choice exam.
• The evaluation of seminars and exhibitions.

• Attendance at all theoretical and practical classes.
• Continued study of the subject.
• 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.

• The same as for the evaluation.
• If the course is suspended in the first call students have one more chance to retake the exams, for both the lectures and the practices.
• It will not be mandatory for the student to repeat the practices in subsequent years, in which case the grade obtained on that day will be maintained if it is 5 at least.