Genetic research comprises formal genetic studies,
candidate gene studies, linkage analyses, and recently large - scale genome wide association studies, gene - environement interaction studies, and pharmacogenetics.
«We started with
candidate gene studies, then moved to common variants and genome wide association studies, and then, most recently, leveraged exome sequencing, he said.
Linkage and
candidate gene studies have been highly successful in the identification of genes that cause the monogenic variants of diabetes and, although progress in the more common forms of T2D has been slow, a number of genes have now been reproducibly associated with T2D risk in multiple studies.
Several
candidate gene studies suggest that variations in HLA class 1 and other genes contribute to differences in antibody response to influenza vaccines [15], [69], [70].
Furthermore, high - resolution analysis of cytosine methylation in primary and transformed cells has found less aberrant methylation of CpG island promoters in transformed cells than had been previously hypothesized based on
candidate gene studies [58].
His team performed embryology experiments, molecular cloning projects, and
candidate gene studies, coming at the problem from several different angles at once.
A candidate gene study of the androgen receptor gene enabled the detection of three alleles in the trinucleotide (CAG) repeat region in exon 1 in the Japanese Akita inu breed [100].
Not exact matches
Abeona Therapeutics (ABEO)- Data for ABO - 102 in MPS IIIA appears encouraging to me (decreases in heparan sulfate, neurocognitive benefits), initial data for ABO - 101 in MPS IIIB showed early promise, EB - 101 in RDEB could see an expedited path to market if the pivotal
study yields fruit, and other
gene therapy
candidates are soon to enter the clinic.
McCallion's strategy to make sense of all this data looks at the active
genes in cells affected by a disease, groups of
genes that interact with one another, their vulnerability to mutation and information from past scientific
studies to filter more than a thousand
gene candidates for disease risk down to just a handful within any one implicated region.
«Identifying which of these
candidate genes actually causes variation in responses to cold snaps will give us the potential to understand whether evolution to climate change can occur in both wild and domesticated animals, allowing us to better predict which species or breeds will be «winners» and «losers» and to better mitigate the effects of anthropogenic climate change on a wide range of organisms from beneficial pollinators to invasive pests,» said Theodore Morgan an associate professor of evolutionary genetics in the Division of Biology at Kansas State University and senior author of the
study.
«Within these genomes, the areas where we see relatively common Neanderthal introgression are in
genes related to metabolism and immune system responses,» says Recep Ozgur Taskent, the
study's first author and a UB PhD
candidate in biological sciences.
Predisposition to vascular disease was my focus here, using genetic epidemiological
studies to identify novel polymorphisms in a range of
candidate genes.
For the new
study, presented last week at the Biology of Genomes meeting here, molecular biologist Marco Osterwalder of Lawrence Berkeley National Laboratory in Berkeley, California, and colleagues harnessed a powerful new
gene - editing technique called CRISPR to figure out exactly how some of these
candidate enhancers work.
The
study, which has identified more than 200 rare variants inherited by children, determines that
genes YWHAZ and DRP2, among others, are new
candidates in the research on autism genetic basis.
Lynch and his colleagues are now identifying
candidates for other mammoth
genes to functionally test as well as planning experiments to
study mammoth proteins in elephant cells.
Harris cited other examples of concern — a review of 100
studies in the field of psychology in which the findings in only about a third of the
studies were reproducible; an effort by scientists at Bayer, another large drug company, that managed to reproduce the findings of only one - quarter of the
studies under review; a just - published review of 25 historical
candidate genes for schizophrenia which found no evidence that the
candidate genes are more associated with the disease than other
genes.
The scientists also tagged another 12
gene variants as promising
candidates for further
study.
In previous
studies, Hu and her group reported that RORA is a novel
candidate gene for autism and is regulated in opposite directions by male and female hormones.
Case
studies described in the article show how microRNAs may affect voluntary alcohol consumption in mice,
candidate genes within signaling pathways associated with chronic obstructive pulmonary disease, and the microRNA:
gene interactions that influence bladder cancer.
«These findings suggest that focusing on
genes with conserved expression levels among primates may be helpful in identifying promising
candidates for disease - association
studies,» the researchers write.
Previous genetic
studies have examined the association of aspirin, NSAIDs, or both with colorectal cancer according to a limited number of
candidate genes or pathways.6 - 10 Thus, to comprehensively identify common genetic markers that characterize individuals who may obtain differential benefit from aspirin and NSAIDs, we conducted a discovery - based, genome - wide analysis of
gene × environment interactions between regular use of aspirin, NSAIDs, or both and single - nucleotide polymorphisms (SNPs) in relation to risk of colorectal cancer.
However, more
studies are needed to dissect the role of the
candidate regions and
genes identified in selection regions,» says Järvelä.
«There has to be a functional way of assessing the role of these cancer -
gene candidates as they appear in sequencing
studies,» Sanchez - Rivera says.
What I like about this
study is that it
studied GWAS and
candidate gene regions in careful investigations that included functional validation components.
Candidate gene and genome - wide association
studies have identified variants associated with HBV - related disease progression or hepatocellular carcinoma in various populations [46][52].
In a
study published January in the journal Molecular Biology and Evolution, Gibbs and his team compared the DNA of the fat fruit flies to a control group in the lab and found nearly 400
candidate genes potentially associated with obesity and other health problems.
Most recently, she has led the planning and execution of a program for a new
gene therapy product
candidate, from ideation through proof - of - concept
study, and mapping out the development plan.
This
study presents several
candidate genes for further
studies of the regeneration process.
The new knowledge and target
candidate genes resulted from such unbiased
study are ultimately important for researchers to understand the fundamental nature of stem cell proliferation and differentiation.»
In conclusion, our
study characterizes the biological function of DDX3 as a putative
candidate tumor suppressor
gene, at least in HCC and cutaneous SCC.
This observation suggests that the bulk of
genes involved in Nasonia immune response remain uncharacterized, with the current
study being the first identification of additional
candidate genes for immunity based on functional response to infection.
In addition to finding vaccine
candidates, «the most striking feature of N. meningitidis from a genome perspective is that there are more contingency
genes than any other bacterium or organism
studied so far,» says Hervé Tettelin, leader of the N. meningitidis sequencing project at TIGR.
Despite type 2 diabetes having been well
studied by genome - wide association
studies in other populations, analysis in Mexican and Latin American individuals identified SLC16A11 as a novel
candidate gene for type 2 diabetes with a possible role in triacylglycerol metabolism.
Projects restricted to the creation of conventional mouse knockouts in
candidate disease
genes identified by association
studies, or to broadly overexpress those
genes, are discouraged.
Some of the identified
genes are previously known to be involved in the development of oyster shells, but the
study also presents novel
gene candidates.
Richarda Voer and colleagues report a
study on novel
candidate genes for colorectal cancer (CRC) at an early age in life.
For this
study, Encode will isolate peripheral blood mononuclear cells from patients and generate
gene expression profiles of cells through in vitro exposure to the
candidate drug.
Recent
studies proved that miRNAs and non-coding ultraconserved
genes are main
candidates for the elusive class of cancer predisposing
genes and that other types of non-coding RNAs participate in the genetic puzzle giving rise to the malignant phenotype.
This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic
studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence var
studies in any species; (b) Validation
studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence var
studies of
candidate genes using genetically - engineered mutant model organisms; (c)
Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence var
Studies focused on epistatis and
gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in
genes or proteins; (e)
Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence var
Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.
She is scanning the genomes of individuals in the current
study to identify regions that may contain additional
gene candidates.
The white - footed mice's success is encouraging from a conservation perspective, since the urban mice were starting with a limited
gene pool — only half the genetic diversity of country mice, noted Max Lambert, an urban ecologist and doctoral
candidate at Yale University in New Haven, Connecticut, who was not involved in the
study.
We examined 152 SNPs in 71
candidate genes for association with diabetes status and related phenotypes in 2,134 Caucasians in a case - control
study and an independent quantitative trait (QT) cohort in the United Kingdom.
Such sharing raises the odds that two or more similar patients with
candidate genes in common may be found, thereby allowing their condition to be more readily
studied and understood.
To complement ongoing positional cloning efforts, we have undertaken a large - scale
candidate gene association
study.
This
study additionally demonstrates that the systematic examination of panels of biological
candidate genes in large, well - characterised populations can be an effective complement to positional cloning approaches.
However, if the purpose of such a scan is to identify
candidate genes, then — as with single -
gene studies — more detailed follow - up and functional validation of at least some of the key
genes of interest are necessary to shore up the evidence.
Her research initially focused on the identification and characterization of juvenile dilated cardiomyopathy in Portuguese water dogs and has led to several ongoing
studies, including most recently the evaluation of various
candidate genes for use in a therapeutic
gene transfer approach to improve cardiac function in failing hearts.
This
study is designed to determine the incidence of BCSL in the breed, to determine the mode of inheritance if a single
gene is involved, and identify
candidate genes for further investigation.
Serotonergic receptor
genes have been considered
candidate genes in many
studies looking at panic disorders in humans, but results have been inconsistent.
Over the past ten years, at least 27
studies in humans, and many in other animals, have identified one
candidate gene in particular, known as NR3C1, which appears to be linked to methylation - induced changes in response to early life adversity and parental stress.