Sentences with phrase «understanding human genetic diseases»
The Coriell Institute for Medical Research is a not - for - profit research organization «dedicated to understanding human genetic diseases and providing the highest quality genetic resources».
http://www.smafoundation.org/ Not exact matches
To better understand their findings, the team examined the animal model for APS1 (i.e. mice with the same genetic defect as human patients with the syndrome) and found that male mice spontaneously developed an inflammatory disease in their prostate glands — a so - called prostatitis — and reacted to transglutaminase 4.
Although researchers do not yet know the biological significance of these discoveries, they say that fully cataloguing the genome may help them understand how genetic variations affect the risk of contracting diseases such as cancer as well as how humans grow from a single - celled embryo into an adult.
These observations and others have convinced the researchers that their CRISPR / Cas9 and hPSC system produces a stable, biologically accurate human model for a common genetic disease where new understanding and new therapies are desperately needed.
New, sophisticated gene sequencing techniques are leading to an increasing understanding of the causes of genetic disease, and can help parents with affected children make informed reproductive choices, the annual conference of the European Society of Human Genetics will hear.
«Thus, it is clear that further studies must investigate an increasingly complex matrix of cell types and conditions to fully understand the role of human genetic variation in disease.»
The findings, published in the journal Nature, explain why the human genome is so difficult to decipher — and contribute to the further understanding of how genetic differences affect the risk of developing diseases on an individual level.
«We are analyzing massively large sets of human genomic data to ultimately improve our understanding of genetic basis of diseases.»
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 start - up's mission is to understand the nature of human genetic variation and its impact on human disease (medical genomics) and treatment (pharmacogenomics).
«Our findings also have important implications for mitochondrial diseases in humans, because this research significantly advances our understanding of how mitochondrial DNA mutations affect individuals and populations, and provides a potential mechanism to explain how different genetic variants may affect health,» Dr Rollins said.
Since this amoeba possesses an innate defense system similar to that of humans, while being genetically modifiable, the researchers can therefore carry out experiments on it in order to understand and fight genetic diseases of the immune system.
«Comparing human, chimpanzee and bonobo cells can give us clues to understand biological processes, such as infection, diseases, brain evolution, adaptation or genetic diversity,» says senior research associate Iñigo Narvaiza, who led the study with senior staff scientist Carol Marchetto at the Salk Institute in La Jolla.
In the paper, the authors stressed that understanding the genetic makeup of these molluscs is important because many «freshwater snails are intermediate hosts for flatworm parasites and transmit infectious diseases» to humans and other animals.
We are at the initial stages of understanding the genetic basis of human disease and evolution at all levels.
«This agreement is a part of deCODE's ongoing strategy to unleash the value of human genetics,» said Kari Stefansson, founder and CEO of deCODE, «our research platform allows us to understand the genetic basis of disease and modifiers of clinical phenotypes in actual patient populations; by doing so, we can rapidly move from targets to patient stratification and from there to companion diagnostics.»
Understanding the genetic factors that regulate synaptic plasticity could point to new therapeutic approaches for human diseases that disrupt synaptic connections.
The next phase in our scientific understanding of human health and disease is to decipher the molecular basis of cell and tissue circuits and the impact of genetic variations on these circuits.
The Center for Research on Genomics and Global Health (CRGGH) aims to facilitate a global understanding of the relationship between human genetic variation and population differences in disease distribution, with the ultimate goal of informing health inequalities.
Understanding the genetic basis of human age - related diseases, as well as normal aging, such as cardiovascular changes, age - related neurodegenerative disease, autoimmune disease, and diabetes constitutes an important step towards unraveling disease pathogenesis and risk prediction.
The Swedish Genomes Program: For research projects with the aim to understand genetic causes of human disease, and which have a translational value and demonstrate potential significance for improving future healthcare in Sweden.
The phenotyping department of PHENOMIN - ICS is advancing a technical platform for functional characterization of preclinical models of human diseases with respect to both genetic understanding of pathophysiological mechanisms and the assessment of drug therapies.
She is interested in using and developing statistical methods to understand the genetic architecture of human phenotypes and diseases.
The Broad Institute is a joint venture that provides preeminent scientists with cutting - edge technologies in genomics and related disciplines in order to understand human disease at the genetic level.
This data sharing deepens our understanding of variability in the human genome and the genetic underpinnings of disease, leading to advances in genomics research and genomic medicine.
Having investigated the different representations of phenotypes, she applies this knowledge to data integration and human genetic disorders with the aim of improving the understanding about the molecular mechanisms underlying human diseases.
Revolutionise scientific understanding of the population biology of infectious disease, by providing an unprecedented level of information about genetic diversity, population structure, evolutionary selection, demography and gene flow, and by enabling this to be linked to information about the behaviour and migration patterns of human and pathogen populations.
His research focuses on understanding the role of genetic variation in contributing to human health and disease using mouse models of human disease, and more recently exploiting technologies developed for biomedical research for application in the field of genetic pest management.
This centre has been devised as a space for excellence research in genomic medicine, focussing on the comprehensive study and understanding of the genetic basis of human diseases in general, placing special emphasis on cancer and its genetic disorders related to inheritance.
Feng's group is focusing first on conditions with the strongest human genetic data, such as Huntington's disease, in which a single gene causes a disorder, and using advanced neuroimaging technology and other tools to understand how the mutation causes brain circuits to misfire.
«GTEx will begin to provide researchers with a comprehensive view of genetic variation and a more precise understanding of how it affects genes critical to the normal function of tissues and organs,» said NIH Director Francis S. Collins, M.D., Ph.D. «This resource will add a new dimension to our understanding of human biology and the mechanisms that lead to disease.»
«The paper is also a powerful demonstration about how detailed genetic studies can help us understand human diseases.»
In fact, Ostrander, who works at the NHGRI's Cancer Genetics and Comparative Genomics Branch, was one of the lead authors of a white paper arguing for support to sequence the dog genome at a level of quality already available at the time for the mouse, «to better understand the genetic basis of complex diseases affecting both human and dog.»
The dog has already played an important role in emerging therapies for inherited blindness in humans and similarities in disease phenotype and eye structure and function between dog and man, together with the increasingly sophisticated genetic tools that are available for the dog, mean that the dog is likely to play an ever increasing role in both our understanding of the normal functioning of the eye and in our ability to treat inherited eye disorders.
(ref) The US government justified adding the dog and cat genome not for us veterinarians and pet lovers; they did it because humans, dogs and cats have more genetic diseases than any other animal species and understanding and attempting to repair or prevent these genetic issues in dogs and cats could have applications in human medicine as well.
A leader in the Human Genome Project, we are now focused on understanding the role of genetics in health and disease by using the latest genomic and genetic techniques.
Rooted in a deepening understanding of how brain architecture is shaped by the interactive effects of both genetic predisposition and environmental influence, and how its developing circuitry affects a lifetime of learning, behavior, and health, advances in the biological sciences underscore the foundational importance of the early years and support an EBD framework for understanding the evolution of human health and disease across the life span.