Identification of a genetic link enables breeding programs to minimize passage of this defect to future generations.
Her work has led to
the identification of genetic mutations for heart disease in companion animals; and development of clinical management recommendations, including for feline cardiomyopathy in Maine coon and ragdoll cats, boxer dog cardiomyopathy and, most recently, long QT syndrome in English springer spaniels.
The creation of a panel of DNA tests for Tibetan Terriers may also lead to breakthroughs in
the identification of genetic mutations that cause rare diseases in Tibetan Terriers.
The identification of the genetic mutation now enables breeders to correct the problem.
12/2: 45 Improved
identification of the genetic basis of disease by integrated analysis of RNA - seq together with whole - genome and exome - based sequencing data.
The rapid
identification of genetic risk factors for common, complex diseases poses great opportunities and challenges for public health.
The identification of the genetic mechanisms underlying human - specific brain development during evolution will transform our ability to decipher the pathophysiological mechanisms underlying neurodevelopmental disorders affecting humans such as autism or schizophrenia.
Our main goal in this project is to use NGS in
identification of genetic causes of rare / ultrarare early - onset neurologic diseases, integrating «omics» platforms with systematic approaches to enrich and redefine phenotypic ontology in these conditions, allowing a comprehensive analysis of genomic data.
In the last decade
the identification of genetic drivers of melanoma cell which regulate proliferation and survival - such as BRAF and other activators of the MAP - kinase pathway - along with the recent development of immunotherapy has taken away in many cases the invasive treatment of melanoma as an option.
Modern molecular technologies (genomics and other omics), through comparing nucleic acid and amino acid sequences across living species, are enabling
the identification of genetic components and patterns stingily conserved by evolution, from those in which times of evolutionary branching of the tree of life can be inferred.
This study was selected for the Trainee Paper Spotlight because it uses multiple techniques to understand disease pathophysiology from
identification of genetic variants to evaluation of their role in disease pathogenesis.
His research interests include the molecular underpinnings of cervical cancer (including developing genetic screens),
the identification of the genetic determinants of quantitative traits in humans, and the application of massively parallel sequencing technology for understanding the genetics of complex disease.
The advance, described in next month's issue of Nature Biotechnology, could lead to more accurate screening of organ donors and
identification of genetic targets for new drugs.
Dr. Seshadri, founding director of the Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases at UT Health San Antonio and holder of the university's Robert Barker Distinguished University Chair, said
the identification of genetic regions that are strongly correlated to stroke will increase potential targets for stroke drug development.
«This work marks, to the best of our knowledge, the first
identification of a genetic basis for a mast - cell - mediated urticaria induced by a mechanical stimulus,» said Dean Metcalfe, M.D., chief of NIAID's Laboratory of Allergic Diseases and a study co-author.
While the means to cure some conditions may take years to develop,
identification of genetic markers can lead to early treatment.
The result: a host of docile foxes and
the identification of the genetic underpinnings for their domestication.
The identification of these genetic defects has fed back to create ever more realistic animal models of the diseases, as mentioned earlier for Huntington's disease.
Not exact matches
New
genetic forensics techniques emerged from the
identification of 9/11 victims, for example.
These genes are implicated in highly penetrant
genetic disorders for which surgical or other interventions aimed at preventing or significantly reducing morbidity and mortality are available to pathogenic variant carriers.5
Identification of a pathogenic variant in one
of these genes could be diagnostic
of a medical condition with potential implications for an individual's medical management.
For a provocative look into the world
of genetic testing and talent
identification, Farrey went to Australia with a cheek swab to get his one - year - old son screened for athletic traits.
It has been estimated that 5 % to 10 %
of infants who die from SIDS have novel mutations in the cardiac sodium or potassium channel genes that result in long QT syndrome as well as in other genes that regulate channel function.44 A recent report described important new molecular and functional evidence that implicates specific SCN5A (sodium channel gene) β subunits in SIDS pathogenesis.47 The
identification of polymorphisms in genes pertinent to the embryologic origin
of the autonomic nervous system in SIDS cases also lends support to the hypothesis that a
genetic predisposition contributes to the etiology
of SIDS.
O. M. Pereira - Smith and J. R. Smith,
Genetic analysis
of indefinite division in human cells:
Identification of four complementation groups.
According to Dr. Philip Awadalla, senior author and principal investigator, «the fact that two very close populations (French versus French Canadians) accumulate such an excess
of differences in rare variants has important consequences in the design
of genetic studies, including the
identification of possibly damaging mutations associated with diseases specific to this population.»
Identification of a specific
genetic mutation in patients with non-small-cell lung cancer (NSCLC) helps clinicians select the best treatment option.
«Better assessment
of teens» ability to concentrate could facilitate the
identification of those at risk
of anxiety and could also inform molecular
genetic studies, which would be the logical next stage for research.»
genetic studies that led to the
identification of potential sources
of B. anthracis recovered from the letters;
The barley genome sequence also enabled the
identification of regions
of the genome that have been vulnerable to
genetic bottlenecking during domestication, knowledge that helps to guide breeders to optimize
genetic diversity in their crop improvement efforts.
Even with the advent
of DNA sequencing and
genetic identification, this was generally done with one particular ribosomal gene.
This is one
of the largest documented hunts
of dolphins in the world, rivaling even the more - industrialized hunting
of dolphins in Japan, noted Baker, whose
genetic identification research was featured in the Academy Award - winning documentary on dolphin exploitation, «The Cove.»
An improved and expanded nomenclature for
genetic sequences is introduced that corresponds with a ranking
of the reliability
of the taxonomic
identification of the source specimens.
«Consequently, in the current state
of knowledge, no child or young athlete should be exposed to [direct to consumer]
genetic testing to define or alter training or for talent
identification aimed at selecting gifted children or adolescents,» it concludes.
We hope that the
identification of these new
genetic factors will speed progress towards truly personalised medicine.
The current research findings build upon recent discoveries including novel
identification of key
genetic changes in cells
of the immune system.
«The
identification of HPV - negative endometrial - like tumors confirms that not all cervical cancers are related to HPV infection and that a small percentage
of cervical tumors may be due to strictly
genetic or other factors,» noted Jean - Claude Zenklusen, Ph.D., director
of NCI's TCGA program office.
«Future studies on maternal smoking and other environmental,
genetic, and epigenetic factors, as well as animal models, should allow
identification of the biological mechanisms responsible for these associations.
«
Identification of yet another
genetic cause for this neurodegenerative disorder will allow for better
genetic testing and counseling to families with an affected child,» he said.
The research team took a small blood sample during one
of Sequoia's routine physicals and extracted enough DNA to get a clear understanding
of her
genetic identification.
Genetic identification of spotted owls, barred owls, and their hybrids: legal implications
of hybrid identity
For their seminal contributions to concepts and methods
of creating a
genetic map in the human, and
of positional cloning, leading to the
identification of thousands
of human disease genes and ushering in the era
of human genetics.
• Mouse whole genome scanning The unit offers microsatellite and SNP based Genome Scanning Services for gene
identification projects, based on linkage analysis, offering coverage for a number
of mouse strains (i.e. C57BL6, DBA2J, CBA, 129S6, 129P2), as well as bioinformatic analysis using suitable mouse
genetic software.
The Woodlands, Texas — May 11, 2006 — Lexicon Genetics Incorporated (Nasdaq: LEXG) announced today that it was awarded a grant from the United States Army Medical Research & Materiel Command (USAMRMC) for the
identification of targets that may be important in the development
of drugs to prevent or treat spinal muscular atrophy (SMA), a neurodegenerative disorder and the leading
genetic cause
of death in early childhood.
In the course
of this work, he has pioneered several new approaches in the fruit fly that have had important implications for mammalian neurobiology, including: the demonstration that the fruit fly has a sleep - like behavior similar to that
of mammals, studies
of physiological and behavioral consequences
of mutations in a neurotransmitter system affecting one
of the brain's principal chemical signals, studies making highly localized
genetic alterations in the nervous system to alter behavior, and molecular
identification of genes causing naturally occurring variation in behavior.
All experiments involving mice were judged and approved by the national committee for
genetic identification of organisms and the animal ethical committee, and were conducted according to national and international guidelines.
Identification of 15
genetic loci associated with risk
of major depression in individuals
of European descent.
The limited
genetic diversity
of dog breeds facilitates
identification of genes, functional variants and regulatory pathways underlying complex psychiatric disorders that are mechanistically similar in dogs and humans.
Bruce A. Beutler establishes the
genetic basis linking toll - like receptor 4 (TLR4) to the
identification of microbes.
«SMA is a grave and life - threatening condition, but it is the
genetic disorder that is most promising for therapeutic target
identification,» said Darryl C. De Vivo, MD, Sidney Carter Professor
of Neurology and Pediatrics, and Co-Director
of the Center for Motor Neuron Biology and Disease at Columbia University Medical Center.
The characterization
of the
genetic alterations observed in neuroblastoma led to the
identification of major players
of neuroblastoma oncogenesis that has considerably improved our understanding
of the biology
of this pediatric cancer.
Her current research is focused on the
identification of genes and molecular pathways for rare disorders and she is the Lead Investigator
of the Genome Canada, CIHR funded «Finding
of Rare Disease Genes in Canada» (FORGE Canada) and «Enhanced CARE for RARE
Genetic Diseases in Canada» initiatives.