Sentences with phrase «genetics of human disease»
«deCODE Genetics has built a world - class capability in the study of the genetics of human disease,» said Robert A. Bradway, president and CEO at Amgen.
https://www.decode.com/
This will allow to understand more about genes we currently know very little about, and open up new avenues for research into the genetics of human disease.
Not exact matches
This approach begins by using tools like advanced human genetics to unravel the complexities of disease and understand the fundamentals of human biology.
The U.S. National Institutes of Health (NIH) has made major investments in network approaches in many areas, including cancer biology, cardiovascular and metabolic diseases, neurophysiology, and human genetics and genomics.
Researchers also included a human genetics study of approximately 188,000 people, which found that carriers of mutations that disable ANGPTL3 had nearly 40 percent fewer incidents of coronary artery disease as compared to those with fully functioning ANGPTL3.
One of the primary goals of genetics over the past decade has been to understand human health and disease in terms of differences in DNA from person to person.
«While it seems that genetics makes a substantial difference to the severity of the heart disease in our models, it does suggest that in humans we may be able to better diagnose heart valve disease in people with rheumatoid arthritis in the future.»
Adds Visscher: «This is entirely in line with theory and previous inference from SNP [variant] data, yet for some reason many researchers in human genetics and epidemiology continue to believe that there is a lot of non-additive genetic variation for common diseases and quantitative traits.»
My clinical responsibilities now include part - time direction of a hospital molecular genetics lab that specializes in the diagnosis of human genetic diseases and hematologic malignancies — a return to my early research interest in human genetics.
«In many cases we're still learning how these bacteria influence our risk of disease, but understanding the human genetics component is a necessary step in unraveling the mystery,» Knights said.
«One of our killifish mutants recapitulates, but in a rapid manner, a human disease called Dyskeratosis congenita, which is due to deficits in a complex involved in maintaining the end of chromosomes, or telomeres,» says lead author Dr. Itamar Harel, a postdoctoral research fellow in genetics.
«Through major genetics studies,» Borenstein noted, «scientists have made valuable progress in gathering information on the species composition of the human microbiome in health and disease.»
By studying how these genes cause defects in fly and mouse models, we can improve our insights into the mechanisms related to human disease,» said corresponding author and Dr. Hugo J. Bellen, professor of neuroscience and molecular and human genetics at Baylor College of Medicine and an investigator at the Howard Hughes Medical Institute.
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.
This essentially gives us «barcodes» of specific gene loci, which we can use to help untangle the complex genetics of complex diseases,» said Andrey Rzhetsky, PhD, professor of genetic medicine and human genetics at the University of Chicago, who led the study.
Her research is both translational and clinical in nature and centers on the human genetics of healthy skin aging and diseases related to aging skin, including new treatments for advanced basal cell skin cancers.
While genetics play a role in the development of Lupus, a systemic autoimmune disease that can attack any organ system in the human body, so do environmental triggers, such as particulates in air pollution and ultraviolet light, explains Gaurav Gulati, MD, a physician - researcher at the University of Cincinnati (UC) College of Medicine.
The massive project, carried out by a private company in the country, deCODE genetics, has yielded new disease risk genes, insights into human evolution, and a list of more than 1000 genes that people can apparently live without.
Although genetically modified mice have been used widely to model neurodegenerative diseases, they lack the typical neurodegeneration or overt neuronal loss seen in human brains, says corresponding author Xiao - Jiang Li, MD, PhD, distinguished professor of human genetics at Emory University School of Medicine.
«We believe it is the first example illustrating the process of a developing human heart chamber in vitro,» said Kevin Healy, a UC Berkeley professor of bioengineering, who is co-senior author of the study with Dr. Bruce Conklin, a senior investigator at the Gladstone Institute of Cardiovascular Disease and a professor of medical genetics and cellular and molecular pharmacology at UC San Francisco.
Francis Collins, director of the National Human Genome Research Institute (NHGRI)-- which is funding this initiative jointly with the National Heart, Lung, and Blood Institute — says that having the genomes of three of the most important mammals in biomedical research in hand «will greatly speed the unraveling of the genetics and physiology» of human disHuman Genome Research Institute (NHGRI)-- which is funding this initiative jointly with the National Heart, Lung, and Blood Institute — says that having the genomes of three of the most important mammals in biomedical research in hand «will greatly speed the unraveling of the genetics and physiology» of human dishuman disease.
It's the study of how information is added onto or influences the read - out of genes and, Feinberg says, is not combined often enough with genetics research to understand human disease.
Some of the genes may be important in understanding the genetics behind disease as well as the evolution of the human brain.
Thus far, the impact of molecular genetics on human disease has been primarily to identify specifically which genes are implicated in specific diseases.
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.
Once again we have used our capabilities in human genetics to gain a new understanding of the root causes of a major disease, that appear to act independently of known environmental risk factors.
His research interests are largely focused upon elucidating the mechanisms of mutagenesis underlying human genetic disease, but include genotype — phenotype relationships in various inherited conditions, as well as human evolutionary and population genetics.
«We can harness the power of zebrafish genetics to create genetic models of human diseases.»
-- one of the world's top researchers in the field of human genetics, behavior and neuropsychiatric diseases — has been named Endowed Chair in Behavioral Genomics by the Department of Psychiatry and the University of California, San Diego (UCSD) School of Medicine.
About deCODE deCODE is a biopharmaceutical company applying its discoveries in human genetics to the development of diagnostics and drugs for common diseases.
The findings open up an avenue for treating Huntington's as well as other inherited neurodegenerative diseases, although more testing of safety and long - term effects is needed, says senior author Xiao - Jiang Li, MD, PhD, distinguished professor of human genetics at Emory University School of Medicine.
Gholson J. Lyon Biochemistry, amino - terminal acetylation of proteins, human genetics, neuropsychiatric diseases, whole genome sequencing
Dr. Lambert: In perhaps a generation, the field of genetics will advance to a place where we will be able to perform real - time measurement of changing biomarkers in the human body, including genes expressed and the microbiome, and have early warning signals for disease detection, prevention and intervention.
CSHL is a private, non-profit research and education institution dedicated to exploring molecular biology and genetics in order to advance the understanding and ability to diagnose and treat cancers, neurological diseases, and other causes of human suffering.
Across the program, nearly 100 Helmsley - funded investigators are working to understand both how human genetics and the gut microbiome can cause and exacerbate Crohn's disease, and bring those insights into the development of new treatments.
«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.»
My goal is to contribute to the resolution of this important problem by bringing to bear recent advances in human genetics and integrative genomics and translating them in a mechanistic, systems - level understanding of disease that is rooted in human biology but also actionable from a drug development perspective.
«We believe it is the first example illustrating the process of a developing human heart chamber in vitro,» said Kevin Healy, PhD, a UC Berkeley professor of bioengineering, who is co-senior author of the study with Bruce Conklin, MD, a senior investigator at the Gladstone Institute of Cardiovascular Disease and a professor of medical genetics and cellular and molecular pharmacology at UC San Francisco.
But Dr. David Goldstein, director of Duke University's Center for Human Genome Variation, says, «Right now we know very, very little of the genetics of the diseases that most people will get.»
The mission of deCODE genetics is to use human genetics and genomics to acquire new knowledge about health and disease, and work with pharmaceutical companies and healthcare providers to develop novel methods to identify, treat and prevent diseases.
Using reverse genetic approaches, we are also working closely with the human genetics community to create new strains of mice carrying human Mendelian disease mutations.
The study of human genetics has often focused on mutations that cause disease.
PHENOMIN's involvement in the IMPC will fulfill a key item of the the National Alliance for life sciences and health (AVIESAN) strategic plan that consists in applying mouse genetics to analyze the mechanisms of disease and to use this knowledge for advancing fundamental research and human health (AVIESAN report on the use and needs of mouse models in the French scientific community, 2010).
Further, his group pioneered expression quantitative trait locus (eQTL) studies, which enabled variation in global gene expression to be applied to genetics of complex human diseases.
Exploration of these findings in the context of human disease genetics provides insights into the role of inherited variation in blood metabolic diversity and identify potential new opportunities for drug development and for understanding disease.
The revolution in human genetics has revealed a large number of genes and pathways associated with these diseases, and emerging methodologies are starting to systematically analyze the cellular and molecular circuitry underlying disease.
«It comes as no surprise to me that the members of ASHG have selected Dr. Nussbaum as their President - Elect,» said NHGRI Director Francis S. Collins, M.D., Ph.D. «Bob is a prominent leader in the field of human genetics and has made considerable contributions to identifying the genetic abnormalities and destructive mechanisms involved in Parkinson's disease and Lowe's Syndrome.
Centers for Disease Control and Prevention (CDC) The Office of Genomics and Disease Prevention integrates advances in human genetics into public health research, policies, and programs.
According to Ophir Klein, MD, PhD, the Charles J. Epstein Professor of Human Genetics and chief of the Division of Medical Genetics at UCSF, «We are looking forward to a close interaction between Dr. Rajkovic and our clinical genetics faculty members in Pediatrics, Obstetrics, Internal Medicine and the Cancer Center, as well as with our colleagues working on genetic diseases in other departments.
Helmsley - funded investigators are working to understand both how human genetics and the gut microbiome can cause and exacerbate Crohn's disease, so they can apply those insights into the development of new treatments.