Recent Trends in Genomic Biomarkers - Pepgra Healthcare

1
RECENT TRENDS IN GENOMIC BIOMARKERS
An Academic presentation by Dr. Nancy Agnes,
Head, Technical Operations, Pepgra
Group www.pepgra.com Email pepgrahealthcare_at_gmai
l.com
2
Today's Discussion
Outline
In-Brief
Introduction Analyzing the Gene expression
Genome-wide association studies Linkage
Analysis Wrapping up
3
In-Brief
C ardiovascular 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.
4
Introduction
Recent advancements in the incidence of the
cardio disease continue upward globally,
yielding a significant impact on morbidity and
mortality in C linical 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..
5
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..
6
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 C linical
Biostatistics services.
7
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 c onsulting 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..
8
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 h ealthcare 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 down- regulated
relates to glucose metabolism using c linical
study design.
Contd..
9
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..
10
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..
11
(No Transcript)
12
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..

13
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..
14
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 C VD mechanisms and
potential new therapeutics.
15
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..

16
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 t herapeutics
clinical research.
17
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. Ultimat
ely, the genetic biomarkers obtained using
various technologies will be complementation.
Contd..
18
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.
19
Contact Us
UNITED KINGDOM 44- 7424810299 INDIA 91-98843500
06 EMAIL pepgrahealthcare_at_gmail.com