Sentences with phrase «mechanisms of human disease»
In a substudy, review outcomes were also compared across different types of clinical research, based in large part on the designations and definitions derived from a number of sources, including a report by Nathan, 14 the Institute of Medicine, 20 the NIH Director's Panel on Clinical Research, 9 the Association of American Medical Colleges and American Medical Association, 21 and the Agency for Healthcare Research and Quality.22 All 3599 R01 applications involving human subjects that were submitted to NIH for the October 2002 council were categorized into 1 of the following: (1) patient - oriented studies of mechanisms of human disease (bench to bedside); (2) clinical trials and other clinical interventions; (3) patient - oriented research focusing on development of new technologies; (4) epidemiological studies; (5) behavioral studies (including studies of normal human behavior); (6) health services research; and (7) use of deidentified human tissue.
https://jamanetwork.com/
He is interested in elucidating mechanisms of human disease by exploring the functional effects of genetic variation through computational analysis of «- omic» sequencing data.
Whether you want to discover new mechanisms of human disease, need a genome assembly for an organism you study, or just want to know more about us, Dovetail Genomics is here to help.
Dr. Torkamani's research covers a broad range of areas centered on the use of genomic technologies to identify the genetic etiology and underlying mechanisms of human disease in order to define precision therapies for diseased individuals.
Isaiah Mansour, an undergraduate at the University of Maine, talks about how a Maine INBRE course on the molecular mechanisms of human disease at the MDI Biological Laboratory changed his life.
«Our method promises to be a powerful tool for studying the mechanisms of human diseases and developing new therapies,» they wrote in the journal Nature.
Not exact matches
For 50 years, the fundamental principles and mechanisms of the epigenetic regulation of gene expression have been explored across myriad organisms and human diseases.
The behavioral tests used here modeled one dimension of the disease — an inability to experience pleasure from normal activities — but not others, such as stress and anxiety, and probably tap into different brain mechanisms in mice than in humans, he says.
«The discovery of HDMP in humans means that for the first time we are seeing an important mechanism in the process which causes the disease.
«The study results elucidate the molecular mechanisms underlying disease progression in multiple sclerosis models, providing a basis for future clinical trials to determine safety and efficacy of these chemical agents in humans with demyelinating disorders,» says Patrizia Casaccia, MD, PhD, Professor of Neuroscience, Genetics and Genomic Sciences at Mount Sinai and senior author of the study.
«The next step in understanding sleep apnea in the future will be to dissect different subtypes of sleep apnea, likely defined by distinct pathophysiological mechanisms which may underlie different outcomes and predisposition to comorbidities,» Cavadas says, «As human life expectancy increases, delaying the onset of age - related diseases becomes critical to our society.»
This mechanism may be involved in many more diseases,» explains study's co-author, Dr. David Rosenblatt, a scientist in the Child Health and Human Development Program at the RI - MUHC and holder of the Dodd Q. Chu and Family Chair in Medical Genetics in the Department of Human Genetics at McGill University.
The researchers caution, however, that it's not yet clear how closely the toxin - induced neural damage in rats mimics the state of diseased neurons in Parkinson's, especially because the mechanism that leads to such damage in humans remains unknown.
By pairing a receptor that targets neurons with a molecule that degrades the main component of Alzheimer's plaques, the biologists were able to substantially dissolve these plaques in mice brains and human brain tissue, offering a potential mechanism for treating the debilitating disease, as well as other conditions that involve either the brain or the eyes.
«These two studies highlight the value of using an integrated multi-systems approach — including fruit flies, mice, and human cells — to discover mechanisms underlying disease processes.»
«Further work in our lab will be aimed at understanding the detailed mechanism of how these proteins regulate editing, in turn providing an inroad to developing therapeutics that modulate editing for the treatment of human diseases.»
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.
The program works by connecting computer - generated drug profiles — including mechanisms of action, clinical efficacy, and side effects — with information about how a molecule may interact with human proteins in specific diseases, such as ovarian cancer.
Because of the similarities in ocular anatomy, canine models contribute significantly to the understanding of retinal disease mechanisms and the development of new therapies for human patients.
Further, since the disruption of epigenetic mechanisms may cause diseases such as cancer, diabetes and autoimmune disorders, these new findings could have implications for human health.
Among other things, her work has helped illuminate the mechanisms underlying the loss of control over stem cell division, which is regarded as a cause of many human diseases.
Erlich and his team, which included researchers from Harvard, MIT, Stanford University, and Mount Sinai, plan next to study the effect of these eSTRs on more human diseases and better understand their molecular mechanism.
Splicing is a critical biological mechanism — at least 15 percent of all human diseases are due to splicing errors, for example.
If the new mechanism also operates in the human brain and can be potentiated, this could become of clinical importance not only for stroke patients, but also for replacing neurons which have died, thus restoring function in patients with other disorders such as Parkinson's disease and Huntington's disease,» says Olle Lindvall, Senior Professor of Neurology.
«For example, there is a huge amount of interest and excitement globally in growing cerebral organoids» — miniature brain - like organs that can be studied in laboratory experiments — «from stem cells to model human brain development and disease mechanisms.
The mechanism is thought to be similar to that of the human spliceosome whose malfunctioning can lead to several diseases among which neurodegeneration and cancer.
«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.
Given the rapid succession of generations in yeast, we can use it as a model organism — and study the mechanisms of aneuploidy in much greater detail to find out whether we can derive from it new approaches for diagnosing and treating human diseases.»
Kim and colleagues are interested in studying the activation mechanism of protein kinase G I (PKG I) because a mutation of PKG I has been shown to cause thoracic aortic disease, as Kim and his collaborators showed in a previous publication in the American Journal of Human Genetics.
Functional changes of the retina were found in three mouse models of human CNS diseases whose phenotype, age of onset and pathological mechanism clearly differ from each other.
A detailed analysis of this mechanism will be crucial to understand how aggregate - forming proteins lead to human diseases and may help to develop concepts for possible disease preventions.
Our focus has always been on the core discipline of biochemistry and how it helps us understand organic life and the fundamental mechanisms that underlie human disease.
The researchers» strategy — generating disease - specific nerve cells, identifying a causative gene for developmental defects, validating the gene - specific defect in animal models, and then investigating interactions with other genes both in animal models and in humans — represents a promising new approach for understanding the mechanisms underlying some of the most intractable psychiatric illnesses.
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.
Further experiments in yeast and mice along these lines led Lindquist to propose a new, unifying hypothesis to explain the origin of the human prion disease and the mechanism of its toxicity.
Djimdé leads a research group at the University of Science, Techniques and Technologies of Bamako that is working to understand how genome variation in the Plasmodium falciparum parasite, its human host, and the Anopeheles gambaie mosquito vector contribute to the mechanisms of malaria disease spread.
The Human Biochemical Genetics Section studies selected biochemical defects and other genetic disorders to provide insight into cellular mechanisms and to care for neglected groups of rare disease patients.
For the first time, through the use of human embryonic stem cells (hES) sourced from pre-implantation diagnosis, researchers from Inserm's Institute for Stem Cell Therapy and Exploration of Monogenic Diseases (I - Stem) have successfully identified the previously unknown mechanisms involved in Steinert» disease, also known as type 1 myotonic dystrophy.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
It is now quite clear that rodent models of infectious diseases, particularly their immunologic mechanisms, are poor simulacrums of human disease.
«Sweden's strong track record in biobanking and clinical characterization of patient cohorts should allow important questions to be addressed related to the molecular mechanisms and diagnosis of human disease», says Kerstin Lindblad - Toh.
Molecular mechanism underlying diseases (conformational diseases, cystic kidney disorders, neuromuscular diseases, inflammation, iron - related diseases, disorders of human reproduction, osteoporosis and bone diseases) are being investigated by many groups with robust animal and cellular models and patients» biological samples.
Monogenic diseases are often lacking of physiological human cellular models dedicated to the study of the molecular mechanism implicated in the development of the pathology.
Confocal microscopy of convertases and known disease - related human convertase mutants in cells and tissues will also be used to shed light on subcellular targeting mechanisms.
Elucidating the functional consequence of genetic variants associated with disease provides essential insights into the molecular mechanisms that define human traits.
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).
«We know very little about how A. tumefaciens causes disease in humans, but the mechanism of disease does not appear to be the same in animals and plants,» says Goodner, now of Hiram College in Ohio.
This offers interesting opportunities for interpreting mechanisms of genetic contribution to human disease such as schizophrenia, autism, and rheumatoid arthritis.
The prize, considered among the most prestigious in the scientific community, recognizes Schreiber for his work in chemical biology and for the use of small molecules as probes to uncover novel cellular mechanisms at the root of human health and disease.
She is registred to the National Order of Biologists in the province of Palermo; collaboration in research project from 2012 to 2015 at the Department of Biopathology and Biotechnology, University of Palermo, focusing the study on the identification of molecules capable to modulate intracellular metabolic pathways for the prevention and treatment of infectious, tumor and degenerative disease, in collaboration with Prof. Angela Santoni, University of Rome; collaboration in research project in 2011 at the hospital «Villa Sofia Cervello» of Palermo to study methods can cure the genetic defect that causes thalassemia through genetic engineering; she studies different mechanisms of the differentiation and the activation of human gammadelta T cells as effector cells of the immune response against cancer and infectious diseases; she investigates about the identification and development of biomarkers of resistance and susceptibility to Mycobacterium tuberculosis infection; Valentina Orlando has published 13 papers in peer reviewed journals and 3 comunications at national and international congress.