Sentences with phrase «genetic mechanisms of disease»
Geriomics: IFAR has one of the only scientific programs in the U.S. dedicated to studying the genetic mechanisms of diseases associated with old age.
https://www.instituteforagingresearch.org/ Not exact matches
MIN - 102 has a unique mechanism of action for X-ALD, a genetic disease characterized by progressive neurologic deterioration with no available pharmacological treatment.
Minoryx harnesses its unique mechanism of action for potential use in X-ALD, a genetic disease characterized by progressive neurologic deterioration with no available pharmacological treatment.
«Given this mechanism, ataluren offers the potential for a new therapeutic approach for multiple nonsense mutation genetic disorders by targeting the underlying cause of the disease.»
«It could be one of the mechanisms for genetic inheritance of disease — a route we haven't thought of before,» says Spector.
«The fact that the genetic code can simultaneously write two kinds of information means that many DNA changes that appear to alter protein sequences may actually cause disease by disrupting gene control programs or even both mechanisms simultaneously,» said Stamatoyannopoulos.
Prof. Schuelke emphasizes: «Our results are a good example of how the study of rare genetic diseases can provide insights into general disease mechanisms, which may also play a role in other conditions, such as paraplegia, and which may give rise to the development of regenerative therapies.»
The most important advancement in medicine in the last 25 years was the development of genetic modeling in animals, enabling us to figure out how fundamental mechanisms of physiology and disease work, such as in bone loss.
Dr. Agarwal is currently interested in the mechanisms and therapy of genetic blood diseases, with a focus on dyskeratosis congenita.
Once better understood, these genetic mechanisms may not only help to explain why not all of those who are obese develop related metabolic diseases, such as type 2 diabetes and high cholesterol, but could lead to possible ways to treat obesity or prevent metabolic diseases in those who are already obese.
Having genetic information is not an end in itself, the researchers admitted in a press statement, but they believe that their new findings are the foundation of a better understanding of disease mechanisms and, in the long term, more refined diagnostic and treatment strategies than are currently available.
The researchers said the work demonstrates that, in fact, multi-tissue, multi-individual data can be used to identify the mechanisms of gene regulation and help to study the genetic basis of complex diseases.
«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.
Examining genome sequence information for more than 250,000 people, the researchers first uncovered 16 new diabetes genetic risk factors, and one new CHD genetic risk factor; hence providing novel insights about the mechanisms of the two diseases.
The researchers predicted that the TRPC5 mechanism might play a similar role in other types of progressive kidney disease — even if, in those cases, the damaging feedback loop was kickstarted from chronic disorders such as high blood pressure, rather than a specific genetic mutation.
The study of genetic variation between individuals provides a powerful way to understand these mechanisms which underlie disease risk, which in turn will provide a stimulus for drug development.»
A team of researchers from Bern has now obtained valuable insights into this vital mechanism that could lead to new therapeutic approaches for genetic diseases.
The Genomics Facility also is working with other teams studying mutations in bladder cancer tumors; genetic mechanisms of sickle cell disease; viruses in Lake Michigan; and many other projects.
The strategy of drug discovery may correct defects associated with genetic diseases as it continued to I - Stem is based on the access that pluripotent stem cells provide molecular mechanisms involved in these diseases.
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.
Adrian R. Krainer Posttranscriptional control of gene expression; pre-mRNA splicing mechanisms, fidelity and genetic diseases; alternative splicing; RNA - protein interactions; cancer
In parallel, the generation of functional melanocytes from pluripotent stem cells, capable of producing melanosomes and transferring them to keratinocytes, will facilitate in vitro analysis of molecular mechanisms underlying melanocytic defects observed in genetic diseases such as neurofibromatosis or albinism.
This multidisciplinary analysis provides the blueprint for a detailed understanding of complex biological processes, the pathogenic mechanisms leading to diseases such as cancer, autoimmune or genetic diseases.
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.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
She is currently studying the cellular and genetic mechanisms of liver cancer with the hope of identifying new biomarkers and drug targets for this often fatal disease.
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.
Dr. Tarazi studies the behavioral, genetic, molecular, and cellular mechanisms that mediate the actions of dissimilar psychotropic drugs by using animal models that mimic the core symptoms of different neuropsychiatric diseases.
To cite a few instances, polymerase chain reaction (PCR), a molecular method developed over three decades ago, has been widely applied in disease diagnosis, disease mechanism deciphering, and prognosis prediction; the elucidation of tyrosine kinase activity in cancer cells has led to the development of novel drugs for cancer treatment; and the identification of proteins and genetic molecules by molecular methods as biomarkers for disease diagnosis and prognosis has been drawing great interest.
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.
A UC San Francisco - led research team has identified the likely genetic mechanism that causes some patients with multiple sclerosis (MS) to progress more quickly than others to a debilitating stage of the disease.
He is interested in elucidating mechanisms of human disease by exploring the functional effects of genetic variation through computational analysis of «- omic» sequencing data.
Elucidating the functional consequence of genetic variants associated with disease provides essential insights into the molecular mechanisms that define human traits.
This offers interesting opportunities for interpreting mechanisms of genetic contribution to human disease such as schizophrenia, autism, and rheumatoid arthritis.
She has pioneered the intergration of large - scale genome and transcriptome sequencing data to understand how genetic variation affects gene expression, providing insight to cellular mechanisms underlying genetic risk for disease.
The CRISPR / Cas technology applied to mouse genetic engineering could quickly advance scientific understanding of disease mechanisms by allowing researchers to ask complex questions and find answers much faster than with traditional gene targeting approaches.
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.
«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.
Although the genetic basis of Huntington's disease (HD) is now well understood, a key question in understanding the mechanisms underlying the disorder is whether the disease results from a toxic gain - of - function in the mutant protein, and / or the loss of some key functions performed by the wild type protein.
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.
stem cell therapy for ischemic cardiovascular disease; Molecular mechanisms of oxygen homeostasis; Genetic syndromes due to mutations in genes encoding transcription factors
Moreover, PHENONIM - ICS is involved in European projects presenting a strong impact on human health: Interreg CARDIOGENE (Genetic mechanisms of cardiovascular diseases), GENCODYS (Genetic and epigenetic networks involved in cognitive dysfunctions), AgedBrainSYSBIO (Basic studies of brain aging), as well as projects in partnership with industry: MAGenTA (an Industrial Strategic Innovation project supported by Bpifrance about the treatment of major urogenital diseases) and CanPathPro (H2020 program), to develop a predictive modeling platform of signaling pathways involved in cancers.
Our objective is to uncover fundamental insight into basic and biomedical science through rigorous investigation of the genetic mechanisms governing organogenesis and diseases.
Kontoyiannis D., Boulougouris G., Manoloukos M., Armaka M., Apostolaki M., Pizarro T., Kotlyarov A., Forster I., Flavell R., Gaestel M., Tsichlis P., Cominelli F., Kollias G., 2002, «Genetic dissection of the cellular pathways and signaling mechanisms in modeled tumor necrosis factor - induced Crohn's - like inflammatory bowel disease», JEM, 196, 1563 - 74.
The Institute «Clinique de la Souris» introduced in 2012 the project entitled «genetic mechanisms of the cardiovascular diseases» thanks to the effective cross-border partnership with the clinicians F.Spitz and W Maerz.
The biological mechanisms by which toxins in tobacco smoke cause lung cancer are complex and still not completely understood, but carcinogens in tobacco smoke may not only act as genetic inducers but also act to promote progression of the disease.6 7 As well as potentially reducing the risk of cancer related morbidity and mortality, quitting smoking at diagnosis could reduce overall mortality, as smoking cessation reduces mortality from other diseases such as heart disease, stroke, and chronic obstructive airways disease.8 9
In a finding that supports a new mechanism of inheritance and the leading theory as to the mysterious causative agent of «mad cow» disease and human Creutzfeldt - Jakob disease, researchers at the University of Chicago's Howard Hughes Medical Institute have shown that a defective cell trait can be propagated by a faulty protein, without any DNA or RNA serving as the genetic blueprint.
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.
For elucidating the sophisticated mechanism that mediates the perilous separation of duplicated chromosomes during cell division and thereby prevents genetic diseases such as cancer.
These isogenic cell lines can be used not only to understand the cellular consequences of disease mutations, but also to perform high throughput genetic and pharmacological screens to both understand the underlying pathological mechanisms and to develop novel therapeutic agents to prevent or treat such diseases.