Precision Medicine Study Guide

These flashcards cover key concepts related to precision medicine, including its tools, techniques, and applications.

Personalised Medicine

An approach that tailors disease prevention, diagnosis, and treatment to the individual characteristics of each patient.

The range of genomic and molecular tools in precision medicine are collectively known as the __ technologies.

omics

What does whole genome sequencing (WGS) do?

Reads the entire genome

SNP genotyping detects __ to study genetic diversity.

single-nucleotide polymorphisms

What does Transciptomics study?

All RNA molecules produced in a cell or tissue, providing insight into which genes are active or silent.

Tools used in Transcriptomics?

RNA sequencing (RNA-Seq) and microarrays, which allow scientists to measure gene expression levels across the genome.

What does Proteomics study?

Investigates the complete set of proteins expressed by a cell or organism.

What does metabolomics study?

Studies the small molecules, or metabolites, that reflect the biochemical state of a cell or organism.

What does Epigenomics study?

Studies heritable changes in gene activity that do not alter the DNA sequence itself.

Tools used in Epigenomics?

Techniques like bisulfite sequencing, which are used for methylation mapping, and ChIP-seq, which is used for histone modification analysis.

How does PM support clinical decision-making?

Personalised medicine supports clinical decision-making by integrating molecular and genetic data into patient care.

Risk assessment

Involves identifying individuals who are genetically predisposed to certain diseases.

Gene expression in disease diagnosis

Gene expression profiling can distinguish between different forms of leukemia, leading to more personalized treatment strategies.

What does the The Oncotype DX test do?

Evaluates gene expression to estimate the likelihood of breast cancer recurrance.

What does Pharmacogenomics study?

Pharmacogenomics studies how genetic variation affects an individual’s response to drugs.

What is CRISPR Cas-9?

CRISPR Cas-9 is a revolutionary gene-editing technology that allows for precise modifications of DNA in various organisms. It enables researchers to directly alter genetic sequences to study gene function or correct genetic defects.

How does CRISPR Cas-9 function?

It uses a guide RNA to locate specific DNA sequences and the Cas-9 enzyme to cut the DNA at targeted locations, allowing for gene editing.

Ethical considerations of CRISPR Cas-9?

Ethical considerations of CRISPR Cas-9 involve concerns about potential misuse in human germline editing, consent, safety of gene edits, and the long-term impacts on biodiversity and ecosystems.

What does exome sequencing (WES) do?

targets protein-coding regions only