Sentences with phrase «disease gene identification»

In 2014 the CNAG - CRG together with CIBERER launched a call to the Spanish research community offering free - of - charge Whole Exome Sequencing and bioinformatic analysis for disease gene identification in rare disorders.

Standardized phenotyping enhances Mendelian disease gene identification.

In particular, the comparison of gene sequences in large numbers of patients and controls will be a key step in strategies for disease gene identification.

Not exact matches

As Finnish geneticist Leena Peltonen wrote in a recent review, «The enthusiasm regarding the use of population isolates for the identification of predisposing genes for common, polygenic diseases has turned to a silent drudgery.»

«The identification of these genes paves the way for the development of a test to identify individuals who are at risk of getting Fuchs dystrophy, and also for the development of drugs to slow disease progression or to potentially delay or prevent it from occurring,» said George A. McKie, D.V.M., PhD., director of the NEI's cornea research program.

Much like mutation of the gene BRCA marks people at risk to develop breast and ovarian cancers, identification of mutations in the gene ETV6 may allow doctors to predict the development of ALL, allowing increased monitoring and in the future, perhaps strategies to prevent the disease.

The identification of these modifier genes has proven to be challenging in humans, largely because the disease is very rare.

Targeted gene therapies, however, had to wait for (1) the identification of the genes to target, (2) the cloning and / or sequencing of the relevant genes and in some cases, the specific disease - causing variant, (3) a full understanding of the normal gene function and regulation, and (4) the development of efficient ways to deliver genes to the relevant tissues at therapeutic levels.

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.

Through its population - based approach and three main business units providing disease - gene and drug target identification, database services and informatics tools, deCODE is turning raw genomics data into products and services for the healthcare industry.

Next - gen sequencing technologies have enabled rapid identification of many genes contributing human disease.

Conclusions: The identification of gene expression alterations as a function of hypoxia and recovery from hypoxia is important to understand the molecular mechanisms underlying retinal dysfunction associated with a variety of diseases.

Normally gene identification starts with what is called a case - control design, in which genetic variations are compared between patients with a condition and healthy individuals, to look for differences that may contribute to the disease.

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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» initiatgenes 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» initiatGenes in Canada» (FORGE Canada) and «Enhanced CARE for RARE Genetic Diseases in Canada» initiatives.

First, identification of new Alzheimer's disease genes will provide major clues as to its underlying cause.

The 2013 Warren Alpert Foundation Prize will be awarded to David Botstein of Princeton University, and Ronald W. Davis and David S. Hogness, of Stanford University School of Medicine, for their seminal contributions to the concepts and methods of creating a genetic map in the human, leading to the identification of thousands of disease genes.

«Identification of genes that contribute to Alzheimer's risk and that influence the progression of disease will help lead us to the cause of the disease, identify proteins and other new targets for drug development, and provide genetic methods for determining which people are at greatest risk for Alzheimer's disease when preventative measures become available,» said Dr. Schellenberg.

Identification of genes that contribute to Alzheimer's disease risk and that influence other characteristics of Alzheimer's disease will reveal basic pathogenic mechanisms, identify proteins and pathways for drug development, and provide genetic methods for determining people at greatest risk for when preventative measures become available.

The difficulty in gene identification is possibly related to the fact that AD is a complex disease characterized by marked phenotypic heterogeneity.

To speed the identification of genes related to human diseases and to aid in the understanding of basic biological processes, the Howard Hughes Medical Institute (HHMI) and the Washington University...

As we have done to elucidate complex diseases, 6 for each projection on the blood causal network structure, we identified the largest connected subnetworks comprising genes directly connected to the projected module genes, resulting in the identification of relaxation - and meditation - specific subnetworks (Figure 3).

Careful manual annotation of the human reference sequence provides a solid basis for the identification of disease - associated genes.

More recently, in a joint initiative with the BBMRI - LPC project (Biobanking and Biomolecular Resources Research Infrastructure — Large Prospective Cohorts) and the Wellcome Trust Sanger Institute, the CNAG - CRG launched a call to promote the use of sequencing technologies for the identification of novel causative variants and genes and to molecularly diagnose rare disease patients.

Identification of patients sharing variants in a given gene and having phenotypic features in common leads to greater certainty in the pathogenic nature of the gene and enables to the role of novel genes in development and disease to be defined.

This paper presents the characterization of the oil palm genome using different gene prediction methods and comparative genomics analysis, identification of FA biosynthesis and disease resistance genes, and the development of an annotation database and bioinformatics tools.

Previous honorees include David Botstein of Princeton University and Ronald W. Davis and David S. Hogness of Stanford University School of Medicine for their seminal contributions to the concepts and methods of creating a human genetic map, leading to the identification of thousands of disease genes; Julian Adams of Infinity Pharmaceuticals, Alfred Goldberg of Harvard Medical School and Kenneth Anderson and Paul Richardson, both of Dana - Farber Cancer Institute, for the development of bortezomib, a drug that has altered the lives of hundreds of thousands of people with multiple myeloma; Alain Carpentier of Hôpital Européen Georges Pompidou in Paris and Robert S. Langer of MIT for innovations in bioengineering.

The new Helmsley grant will help gastroenterologist Ramnik Xavier and his team to build upon their pioneering research that resulted in the identification of specific genes linked to Crohn's disease.

His specific interest within DDD is the development of the DDG2P reporting pipeline and the identification of discriminative phenotypic patterns that can predict particular disease genes.

The medical school establishes a Center for Human Genomics to facilitate the identification of high - risk genes linked to common diseases, enabling improved treatment for these diseases.

Thus, whole - exome sequencing allowed for direct identification of a disease - causing gene with just a few samples from affected individuals.

In this session, we review the recent advances in the identification of non-coding mutations and structural variations that influence gene regulation and their consequences for human disease.

283/4: 30 Identification of RCBTB1 as novel disease gene for retinal ciliopathy.

The identification of proteins, VGLUT1 - 3 (Neuron 2001, PNAS 2002), that pump glutamate into synaptic vesicles allows the packaging of the transmitter to be characterised in health and disease (J Comp Neurol 2004, 2006, 2007) and modified by gene knock - out (Science 2004).

Furthermore, chromatin contact maps that link enhancers to promoter regions in a direct way allow identification of genes that can be regulated by the disease variants.

Linking such regulatory regions to gene promoters in disease - relevant cell contexts facilitates identification of candidate disease genes.

Herein, we report alterations in arterial gene and protein expression in the canine MPS I model system, the identification of a potential marker for MPS I cardiovascular disease, and data supporting the hypothesis that a GAG - induced inflammatory process is responsible for the pathogenesis of MPS I cardiovascular disease.

Identification of dogs that do not carry disease genes is the key.

Our laboratory has had many productive relationships with breed clubs like yours that have resulted in the identification of genes for various types of cancer, retinal disease, and other disorders.

Identification of such genes could lead to carrier testing, a better understanding of the disease and long term better treatments for the disease in both dogs and humans.

Furthermore the identification of genes implied in disease development will allow to understand the mechanisms and pathways of the pathology.

Identification of genes responsible for canine monogenic diseases (caused by one gene) is advancing rapidly, but the genes underlying behaviours remain elusive.