RECENT TRENDS IN
GENOMIC
BIOMARKERS
An Academic presentation by
Dr. Nancy Agnes, Head, Technical Operations, Pepgra
Group: www.pepgra.com
Email: pepgrahealthcare@gmail.com
Today's Discussion
Outline
In-Brief
Introduction
Analyzing the Gene expression
Genome-wide association studies
Linkage Analysis
Wrapping up
In-Brief
Cardiovascular disease is a significant health concern worldwide despite having many
genomics developments providing valuable new candidates for better biomarkers and
novel therapeutic targets. This blog focuses on recent trends in this field of genomic
biomarkers. DNA microarrays, linkage analysis, genome-wide association studies, and
other strategies give significant knowledge about the heart's metabolic diseases.
Consisting of many benefits from these approaches, but one must remain conscious of
the importance of phenotyping. The integration of new technologies promises the
discovery and validation of better biomarkers of the presence of cardio disease, its
progression, and the response to treatment in this blog.
Introduction
Recent advancements in the incidence of the cardio
disease continue upward globally, yielding a significant
impact on morbidity and mortality in Clinical research
organization.
The number of patients suffering from CVD
(Cardiovascular diseases) mounts, with an ageing
demographic.
The economic and burdens of these diseases will
continue to grow, with tremendous consequences in
healthcare systems.
Contd..
The search for better biomarkers of the disease's presence and progression
response to treatment has become a matter of urgency.
Luckily, technological advances have facilitated high-throughput assessment and
mining of the human genome, proteome, and metabolome.
In this context, molecular signatures will be increasingly useful in predicting,
diagnosing, and managing heart disease.
The discovery and development of biomarkers have benefited from the emergence of
high-performance genomic and genetic approaches such as DNA microarrays and
single nucleotide polymorphism chips, respectively, in C linical trial Monitoring Services.
Contd..
The ability to screen large populations for gene expression levels and
genetic linkage has shed light on the complex interplay of genetic factors
involved in CVD.
Molecular signatures identify both in the clinical management of disease
and in elucidating the mechanisms involved and provide novel
therapeutics for Clinical Biostatistics services.
Analyzing
the Gene
Expression
Rise of technologies such as DNA microarrays and
analyses of gene expression in various cardiovascular
diseases are significant to the pharmaceutical
regulatory consulting services.
The amount of transcribed genes and the related
mRNAs are detectable by the microarrays to discover
correlations of diseases, clinical outcome, disease
progression, and therapeutic responses.
Microarray analysis comparing the expression of genes
in non-failing hearts and failing hearts.
Contd..
In a study, 288 genes identifying as differentially expressed between groups with
non-failing and failing hearts.
Although none of the genes is currently useful for clinical purposes, these
biomarkers can still provide therapeutic benefits into the metabolic dysregulation
underlying the disease conditions with the healthcare data analytics services.
As described, many of the genes up-regulated in failing hearts, relative to those in
the non-failing hearts, connected with fatty acid metabolism, whereas those downregulated relates to glucose metabolism using clinical study design.
Contd..
It has triggered an investigation into the use of drugs to shift the lipid and glucose
metabolic defines in myocardial cells, as a potential treatment for heart failures.
Gene expression studies have also highlighted the importance of regulation of lipid
metabolism in atherosclerosis.
Using mouse models, identified numerous genes involved in lipid metabolism
contain expression differentially in cardiovascular diseases such as ischemic and
non-ischemic diseases.
Contd..
A single biomarker can provide sensitively and specifically as the therapeutic or
diagnostic biomarker for the disease.
Biomarkers of the future expect to be multi-marker panels characteristic of the
disease processes' complexity underlying pathophysiology.
Only a small quantity of sporadic atherosclerosis results from single-gene defects
in lipid metabolic pathways.
Contd..
Genome-wide
Association
Studies
Beyond microarray-based expression studies,
genome-wide association studies provide a practical
approach to discovering genetic biomarkers.
Gene variants, on chromosome 9 and chromosome
4 have connects to increased risk for CVD.
The applied genome-wide association scanning
found a 58 kb interval on chromosome 9p21 that was
consistently associated with coronary heart disease
in six independent cohorts, from more than four
white populations.
Contd..
Another similar finding found an association between a similar region on
chromosome 9p21 and coronary artery disease.
In the study, two sequence variants on chromosome 4q25 present to be
strongly connected with a clinical trial fibrillation among the three populations of
European descent.
In some instances, the risk locus identified via genome-wide association
studies contains genes that have yet to be annotated and characterized.
Contd..
It may also be unclear what these genetic variants induce cellular and molecular
differences.
Indeed, the newly identified susceptibility loci or SNPs require studies to analyze their
involvement in CVD pathogenesis and potential therapeutic analysis for testing.
Each SNP may likely have a modest influence on the concentrations or function of
translated protein products.
In contrast, a specific set of SNPs can significantly impact the pathobiology of a
particular CVD. Like genes identified in microarray studies, SNPs contain valuable
information for CVD mechanisms and potential new therapeutics.
Linkage
Analysis
Linkage analysis is another approach to finding genetic
biomarkers of heart diseases.
It permits identifying infection with DNA markers by
examining the patterns of heredity and disease
phenotypes among the family members.
The linkage analysis looked at families with early-onset
coronary artery disease and demonstrated an
association between GATQA2, a transcription factor, and
susceptibility for coronary artery disease.
Contd..
Recent studies in Coronary Artery Diseases investigations also revealed
novel gene candidates, such as LSAMP, a tumour suppressor gene, and
KALRN, a gene involved in the Rho GTPase signalling pathway, to be
associated with coronary artery disease for therapeutics clinical research.
Wrapping
Up
The critical factor to consider when comparing different
genetic biomarkers studies is the selection of the
patient cohort.
It depends on the heterogeneity of the population's
size; the genetic biomarkers detected may be
significantly different.
Ultimately, the genetic biomarkers obtained using
various technologies will be complementation.
Contd..
Future systems in biology studies shed light in this regard and provide a
complete picture of each CVD's genetic mechanisms.
Genetic biomarkers may also help uncover, the human genome contains
more than 22 000 genes.
These current trends of genetic biomarkers are listed in this blog.
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