83155 - MEDICAL GENETICS

Conoscenze e abilità da conseguire

Discuss the impact of human genome projects on genetic medicine. Identify the major categories of genetic disorders, and describe differences in their etiology and inheritance pattern. Reconstruct family pedigrees, and apply the principles of mendelian inheritance and population genetics to estimate the risk of recurrence of a monogenic disease. Describe the impact of variations to Mendelian inheritance on the clinical presentation of inherited disorders. Identify the clinical manifestations and etiology of selected genetic conditions, through critical analysis of clinical cases. Define the role of genetic counselling in the management of inherited diseases.

Contenuti

Introduction to medical genetics

• Classes of genetic diseases
• Online resources

Clinical genetics

• Elements of genetic counselling
• Pedigrees
• Genetic testing

Mendelian/monogenic diseases

• Mendelian inheritance patterns (autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive)
• Risk of recurrence; Hardy-Weinberg principle and carrier frequency
  
• Variations of mendelian inheritance (incomplete or age-dependent penetrance, anticipation, variable expressivity, genetic heterogeneity, de novo mutations and mosaicism, skewed X-inactivation, imprinting)
• Disease examples: Huntington disease, acondroplasia, osteogenesis imperfecta, cystic fibrosis, Duchenne muscular dystrophy

Mitochondrial diseases

• Mitochondrial DNA
  
• Maternal inheritance pattern and variations (heteroplasmy/homoplasmy, mitochondrial threshold effect, mitochondrial bottleneck)
• Classes of mitochondrial disorders and phenotypes
  

Multifactorial diseases

• Complex/quantitative traits and disease susceptibility
• Strategies to study the genetic component of multifactorial diseases (familial aggregation, twin studies, adoption studies, association studies)

Chromosomal disorders

• Cytogenetics
• Types of chromosomal anomalies: balanced versus unbalanced; numeric and structural anomalies
• Contiguous gene syndromes (e.g. CATCH22 syndrome)

Disorders of genomic imprinting and UPD

Prader-Willi Syndrome, Angelman Syndrome

Testi/Bibliografia

• Thompson and Thompson Genetics in Medicine, 8th Edition (2015). Robert L. Nussbaum, Roderick R. McInnes, and Huntington F. Willard. Elsevier.
• Medical Genetics, 6th Edition (2019). Lynn B. Jorde, John C. Carey, Michael J. Bamshad. Elsevier.
• Emery's Elements of Medical Genetics and Genomics 16th Edition (2021). Peter D Turnpenny, Sian Ellard, Ruth Cleaver. Elsevier.
• Articles/reviews on selected topics provided by the professor.

Metodi didattici

Teaching/learning methods include:

• lectures supported by PowerPoint presentations
• videos
• problem-based learning: human genetics problems to be solved in class with active student participation

Modalità di verifica e valutazione dell'apprendimento

Details of the assessment method will be published soon.

Strumenti a supporto della didattica

The following material will be available online through Virtuale:

• pdf files of all lectures
• selected articles/reviews on relevant topics

Orario di ricevimento

Consulta il sito web di Kerry Jane Rhoden