PHM5011 – Precision Diagnostics
Course Overview
This course will cover areas of adult, pediatric, prenatal and pre-implantation genetic testing and cancer diagnostics.
Learning Outcomes
By the end of the course, the student will:
- Know How classical cytogenetics and DNA diagnostics are performed.
- Know How targeted testing is performed for common adult and pediatric monogenic disorders.
- Know How to identify novel genes involved in genetic disorders of unknown etiology.
- Know How prenatal and pre-implantation genetic screening and testing are performed.
- Know How common cancers are diagnosed molecularly.
- Know How common infectious diseases are diagnosed molecularly.
Course Outline
- Cytogenetics and Cytogenomics
- PCR-based DNA Diagnostics in Adult and Pediatric Disorders
- Single-Cell Whole Genome Amplification in PCR-based Preimplantation Genetic Testing of Monogenic Disorders (PGT-M)
- Next-Generation Sequencing (NGS) for Screening of Pediatric and Prenatal Disorders
Course Requirements
Student must have taken the core course Human Genomics in Precision Medicine or any similar modules.