Lecture 16 - Precision medicine Flashcards
what is translational research?
it is an efforta to carry scientific knowledge ‘from bench to bedside’. it builds o basic research advances and uses them to develop new therapies or medical procedures
why do we need translational research?
increasing life expectancy can increase the prevalence of chronic disease. treatments can be costly and prolonged and resulted in a projected growth of healthcare spending
Improvements in diagnosis has increased the requirements for treatments for newly identified and often rare diseases.
Help patients – quicker development of new diagnostics, medicinal products, and new medical knowledge for treating diseases, giving access to care for people at reasonable costs.
what is the definition fro precision medicine ?
“Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.”
Also referred to as personalized medicine, stratified medicine, and theranostics.
what is precision medicine in simpler terms ?
the right drug, for the right patients, and the right diseases t the right time, at the right dose and with reduced adverse events.
describe the model approach of precision medication
Disease Phenotypes: These are the observable characteristics or traits of a disease, which can be influenced by genetic and environmental factors. This section includes DNA, RNA, proteins, and metabolites.
Data Generation and Collection: This involves gathering ‘omics datasets’, which include genomics, epigenomics, transcriptomics, proteomics, metabolomics, phenomics, and radiomics. These datasets help understand the molecular basis of diseases. Clinical data is also collected, including patient health information and electronic health records.
Data Integration: The gathered data is integrated and analyzed, likely using computational tools and bioinformatics.
Precision Medicine: The analysis leads to new medical knowledge, including the discovery of disease genes, biomarkers, and new avenues for drug development and repurposing. This knowledge is then translated into general practice, impacting diagnosis, prognosis, and the ability to offer personalized treatment to patients.
what technology is used to analyse the central dogma of molecular biology ?
Sequencing and arrays and Mass Spectrometry and NMR
what is pharmacogencomics?
pharmacogenomics is the study of genetic variability on the impact of pharmacokinetic and pharmacodynamics of drug action. it is used to improve dosing, enhance efficacy, reduce toxicity and develop new targets.
how does the pharmacogenomics pipeline analyse how a persons genetic makeup affects their response to drugs?
Samples: Saliva, biopsy tissue, blood
DNA extraction
Analysis: Digital PCR, SNP arrays, and next-gen sequencing.
Data quality checks: Correct SNP genotyping, allele frequency models and pinpointing candidate SNPs
what are pharmacogenomics in action?
The Cancer Genome Atlas
International Cancer Genome Consortium
what are pharmacometabolomics?
pharmacometabolomics involves determination of the metabolic state of an individual as affected by environmental, genetic, and gut microbiome influences—the so‐called “metabotype”—to define signatures both at baseline (before) and after drug exposure that might inform treatment outcomes
describe the central dogma of molecular biology
the central dogma of molecular biology describes the flow of genetic information within a cell.
it starts with the genome which DNA is within and goes through transcription to make mRNA which goes to through the proteome to make proteins. proteins then make various metabolites and metabolome pathways and networks
abidance refers to the original 4 nucleotides the DNA Strats off with to the vast diversity of the metabolome, implying the increase in complexity and number as one moves from the genome down to the metabolic products
describe the process of how precision medicine investigates from start to end dna
- disease phenotypes: looks in into biological makeup such as DNA and RNA.
- data generation and collection: uses eg genetic and metabolomics and patient health records
- data integration: analysis of gees and records and dat
4.precision medicine: diagnosis, prognosis and personalised treatment,
