84396 - Molecular Diagnostics

Learning outcomes

Describe the principles and applications of molecular tests, including advanced genomic technologies, in the diagnosis of genetic diseases. Discuss the potential applications of genome editing technology in medicine.

Course contents

The Molecular Diagnostics course addresses the major technologies used in a clinical setting for the molecular diagnosis of genetic diseases, with a focus on inherited diseases.

Lecture 1 Genetic testing: purpose, clinical indications and strategies; clinical interpretation of genetic variants; ethical considerations (informed consent, incidental findings); online resources

Lecture 2 Detecting specific DNA sequence variants: PCR-based methods, SNP array, MLAP

Lecture 3 DNA sequencing: Sanger sequencing, next generation sequencing; variant filtering strategies

Leture 4: Detecting structural variants and chromosomal abnormalities: FISH, aCGH, non-invasive prenatal testing.

Please note that the Learning Outcome "Discuss the potential applications of genome editing technology in medicine" will not be addressed since it was inserted erroneously and is not within the scope of the course.

Nota: L'obiettivo formativo "Discutere le potenziali applicazioni della tecnologia di editing genomico in medicina" non sarà trattato, poiché è stato inserito erroneamente e non rientra nell’ambito del corso.

Readings/Bibliography

The following reading material will be available on Virtuale:

• Lecture pdf
  
• Textbook: Human Molecular Genetics edition 5, Tom Strachan and Andrew P Read, CRC Press, 2018
• Review: Genetic Testing: current approaches, Stephanie E Wallace and Lora JH Bean, 2020. GeneReviews Educational Materials, https://www.ncbi.nlm.nih.gov/books/NBK279899/

Teaching methods

Traditional lectures.

Attendance is mandatory; the minimum attendance requirement to be admitted to the final exam is 60%. For Integrated Courses (I.C.), the 60% attendance requirement refers to the sum total I.C. lessons. Students who fail to meet the minimum attendance requirement will not be admitted to the final exam of the integrated course and will have to attend relevant classes again during the next academic year.

Assessment methods

Computer-based written exam using Esami Online. Students will need their university password to access the exam.

The final assessment consists of a joint test covering all topics included in the integrated course. The test contains 40 multiple-choice questions (4 available answers, only one of which is correct). Typically, the test will include at least five questions from each individual teaching module.

To pass the exam, students must answer at least 24 questions correctly, corresponding to a mark of 18/30. A perfect score (40 correct answers) will result in a final mark of 30 with honours (cum laude).

Teaching tools

Lectures accompanied by Powerpoint presentations.

Office hours

See the website of Kerry Jane Rhoden