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 will address 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, MLPA

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

Leture 4: Detecting chromosomal abnormalities: FISH, aCGH, SNP array, non-invasive prenatal testing

Please note that the Learnign 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.

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

Professors may authorise excused absences upon receipt of proper justifying documentation, in case of illness or serious reasons. Excused absences do not count against a student’s attendance record to determine their minimum attendance requirement.

Assessment methods

Final evaluation will be performed by means of a joint test on all topics covered in the integrated course. The test will be based on 40 multiple choice questions (4 available aswers, only one is correct). In general, at least 5 questions from each different teaching module will be included in the test. The exam is passed (score 18) when at least 24 questions are correctly answered. When all the questions are answered correctly the final score will be 30, with honours.

Teaching tools

Lectures are accompanied by Powerpoint presentations.

Office hours

See the website of Kerry Jane Rhoden