Genomic Technologies in Clinical Diagnostics: Molecular Techniques

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Powerful new technologies have been driving forward immense and exciting changes in clinical practice. The days of peering down the microscope to detect chromosome abnormalities are gone, replaced by chromosome analysis at the genomic level. Invasive Down syndrome tests in pregnancy have made way for the evaluation of fetal DNA in maternal blood. And instead of laborious gene-by-gene targeted sequencing, we can now sequence all of our genes in parallel in a single experiment. The postgraduate-level course “Genomic Technologies in Clinical Diagnostics: Molecular Techniques“, will help you understand these new and established genetic technologies, and their application to clinical practice.

Genomic Technologies in Clinical Diagnostics: Molecular Techniques Course Content

In this course, you will learn how molecular genetic techniques are used to identify the genetic factors that contribute to the development of disease. By the end, you will be able to demonstrate knowledge and applicability of the molecular principles behind:

Array comparative genomic hybridization (array CGH);
Karyotyping;
Fluorescent in situ hybridization (FISH);
Southern blotting;
Multiplex ligation probe amplification (MLPA);
Polymerase chain reaction (PCR) and Sanger sequencing;
Quantitative fluorescent PCR (QF-PCR);
Single nucleotide polymorphism (SNP) genotyping and genome-wide association studies (GWAS);
The extraction and analysis of cell-free fetal DNA, including non-invasive prenatal testing (NIPT).

Through practice exercises each week, you will evaluate which laboratory investigations are most suitable for a given clinical scenario.

Requirements

This course is designed for scientists and healthcare professionals with an interest in obtaining a postgraduate-level understanding of molecular genomic techniques.

If you are new to the field, we recommend that before you start this course, you complete “The Genomics Era: the Future of Genetics in Medicine” – the first in the “Genomics in Healthcare” program from St George’s.