9797238 - THE CELL: MOLECULES AND PROCESSES
Modulo Medical genetics II

• Demonstrate an understanding of the pathogenic role of genetic variation, including its impact on disease development and progression.

• Identify and assess disease genes and genetic susceptibility factors related to complex diseases, utilizing various research and diagnostic techniques.

• Apply genetic approaches to the development and treatment of diseases, including the use of genetic therapies and targeted interventions.

• Analyze and discuss the principles and key concepts of cancer genetics and genomics, including the genetic basis of various types of cancer.

• Evaluate and implement genetic and genomic counseling and testing strategies within a healthcare context, considering ethical and clinical implications for patients and families.

o an overview of how genetic variation results in disease

o pathogenic nucleotide substitutions and tiny insertions and deletions

o pathogenic variation in short tandem repeat copy number

o pathogenic variation in long tandem repeats and interspersed repeats

o chromosome abnormalities and copy number variants

o molecular pathology of mitochondrial disorders 

o effects on phenotype of pathogenic variation in nuclear DNA

o the protein structure perspective of molecular pathology 

• The identification of disease genes and genetic susceptibility to complex diseases 

o the identification of genes in monogenic disorders

o the identification of genetic susceptibility to complex diseases

o the genetic architecture of complex disease and the contribution of environment and epigenetics 

• Genetic approaches to the treatment of diseases

o overview of treating genetic diseases and the genetic treatment of the diseases

o small molecule drugs and therapeutic proteins

o principles of gene and cell therapy

o gene therapy for inherited disorders

• Cancer genetics and genomics

o fundamental characteristics and evolution of cancer

o oncogenes and tumour suppressor genes

o genomic instability and epigenetic dysregulation in cancer

o genome-wide studies of cancers

o genetic inroads into cancer therapy

• Genetic and genomic testing in healthcare: practical and ethical aspects 

o overview of genetic testing

o genetic testing for chromosome abnormalities and pathogenic structural variation

o genetic testing for pathogenic point mutations and DNA methylation

o genetic counselling and testing services: practical applications

o ethical, legal, and societal issues (ELSI) in genetic testing and counselling

• Strachan and Lucassen. Genetics and Genomics in Medicine. Second Edition, 2023, CRC presso, Taylor and Francis Group.

• Pyeritz, Korf, and Grody. Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, 7th Edition, 2019, Elsevier.

• Jorde, Carey, and Bamshad. Medical Genetics, 6th Edition, 2020, Elsevier.

Any additional educational material (slides, videos, handouts, etc.) will be distributed or indicated during the lessons.

The oral examination consists of an interview during which questions will cover at least three different topics from the course curriculum. The assessments aim to evaluate: i) the level of knowledge in the disciplines; ii) the ability to apply this knowledge to solve specific problems related to the disciplines (autonomous problem-solving); iii) clarity of expression; iv) proficiency in medical-scientific language. The assessment of learning can also be conducted remotely if the conditions necessitate it.

For the assignment of the final grade, the following parameters will be considered:

• Score 29-30 with honors: The student demonstrates an in-depth knowledge of the topics, promptly and correctly integrates and critically analyzes presented situations, independently solving even highly complex problems. They possess excellent communication skills and command medical-scientific language proficiently.

• Score 26-28: The student has a good understanding of the topics, is able to integrate and critically and logically analyze presented situations, can fairly independently solve complex problems, and presents topics clearly using appropriate medical-scientific language.

• Score 22-25: The student has a fair understanding of the topics, although it may be limited to the main areas. They can integrate and critically analyze presented situations, although not always in a linear fashion, and present topics fairly clearly with moderate language proficiency.

• Score 18-21: The student has minimal knowledge of the topics, possesses modest ability to integrate and critically analyze presented situations, and presents topics sufficiently clearly, although their language proficiency may be underdeveloped.

• Exam not passed: The student lacks the minimum required knowledge of the core content of the course. Their ability to use specific language is minimal or nonexistent, and they are unable to independently apply acquired knowledge.

• The pathogenic role of genetic variation 

• The identification of disease-causing genes

• The impact of environment and epigenetics in the phenotype 

• Cancer genetics

• Genetic services

• Genetic treatment of the diseases