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  • genes
  • Australian scientists have discovered the first evidence of genes that cause Macular Telangiectasia type 2 (MacTel), a degenerative eye disease which leads to blindness and is currently incurable and untreatable. (medicalxpress.com)
  • Scientists who analyzed the genes involved in 10 autoimmune diseases that begin in childhood have discovered 22 genome-wide signals shared by two or more diseases. (medicalxpress.com)
  • Scientists from Singapore and China studying people of Han Chinese descent have identified genes and regions in the human genome that increase susceptibility to IgA nephropathy. (ukrocharity.org)
  • From BBC News April 12, 2010 An international team of researchers has identified 20 genes related to kidney function and the production and secretion of creatinine that could explain more about the causes and biology of chronic kidney disease. (ukrocharity.org)
  • The exclusive occurrence of BA in the neonatal liver and extrahepatic biliary tree suggests that ongoing development may be the key in pathogenesis, and thus genes affecting biliary development may confer susceptibility to BA. (sages.org)
  • The susceptibility "genes" identified to date account for only a small percentage of the known genetic variation in disease risk, and the relationship between these genetic variants and environmental risk factors has yet to be fully investigated , . (pubmedcentralcanada.ca)
  • Variants in non-coding genomic regions are harder to interpret than variants in the protein-coding regions of genes, which we know much more about," said Lisa Brooks, Ph.D., program director of the NHGRI Genomic Variation Program. (genome.gov)
  • Researchers will study how genetic variants work together with other DNA sequences to regulate particular genes in diseases such as cancer and heart disease. (genome.gov)
  • Additional analysis of genomic imprints shows no persistent aberrations in DNA methylation at the differentially methylated regions of imprinted genes between the G1 and G2 prospermatogonia, or in the allele-specific transcription of imprinted genes between the G2 and G3 soma. (biomedcentral.com)
  • Like AMD, Glaucoma is a genetically complex disease likely involving many changes in many genes. (nih.gov)
  • I propose to explore the genetic basis of sex-specific fitness in a model organism in both laboratory and natural conditions and to test whether those genes identified as having sexually antagonistic effects can help explain the incidence of human diseases that display sexual dimorphism in prevalence, age of onset or severity. (europa.eu)
  • This opportunity will be realized through such genomics-based approaches as identification of genes and pathways and determining how they interact with environmental factors in health and disease, more precise prediction of disease susceptibility and drug response, early detection of illness, and development of entirely new therapeutic approaches. (genome.gov)
  • The NHGRI has begun to create a "haplotype map" of the human genome to enable scientists to find the genes that affect common diseases more quickly and efficiently. (genome.gov)
  • genome-wide as
  • To this end, NEI initiated funding for genome wide association studies, a powerful approach that enables investigators to scan the entire human genome to detect multiple, subtle gene variants that increase the risk of developing this complex, blinding disease. (nih.gov)
  • GWAS
  • To find which genetic variants are associated with a disease, researchers typically conduct a genome-wide association study (GWAS), which compares the genomes of thousands of people with a disease to those without the disease. (genome.gov)
  • However, a GWAS can identify hundreds of genetic variants associated with the disease, making it difficult to identify the specific variants that play a role in the disease and to define what that role is. (genome.gov)
  • Two GWAS have identified the FCRL3 /1q23 locus as a susceptibility locus for IA-2A ( 6 ) and ZnT8 ( 7 ) positivity in a European population. (diabetesjournals.org)
  • GWAS are an important discovery tool that require extensive follow-up to map each region, investigate the biological mechanism underpinning the association and eventually test the optimal markers for assessing risk for a disease or its outcome, such as in pharmacogenomics. (aacrjournals.org)
  • pathogenesis
  • The Journal of Alzheimer's Disease is an international multidisciplinary journal to facilitate progress in understanding the etiology, pathogenesis, epidemiology, genetics, behavior, treatment and psychology of Alzheimer's disease. (iospress.com)
  • approaches
  • New grants from the National Institutes of Health (NIH) will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease. (genome.gov)
  • Dr. Brooks noted that the funded researchers will develop and test statistical approaches to certain diseases, such as cancer and arthritis. (genome.gov)
  • Herein, I systematically assess the current level of target validation for PrPC in Alzheimer's disease and the merits of the identified approaches to therapeutically affect the PrPC :Aβ oligomer-interaction. (iospress.com)
  • cellular
  • In 2009, cellular prion protein (PrPC ) was identified in a genome-wide screen as a high-affinity receptor for Aβ oligomers, and since then, many studies have explored the role of PrPC in Alzheimer's disease. (iospress.com)
  • Metabolomic analysis: We are developing novel methods for analyzing changes in cellular metabolites caused by drug treatment or in disease. (stanford.edu)
  • Opens
  • This historic achievement, in the month of the 50th anniversary of Watson and Crick's seminal publication of the structure of DNA, opens the genomic era of medicine. (genome.gov)
  • Researchers
  • For the rest, the researchers did not observe any signal in the eQTL data that were consistent with autoimmune disease associations despite the fact that disease-relevant cell populations are easier to access from blood samples compared to other disease. (medicalxpress.com)
  • Researchers from the United States, Italy, and China have joined together to unravel the mysteries of IgA nephropathy, a disease that is the leading cause of kidney failure in Asia and Southern Europe. (ukrocharity.org)
  • From The Jerusalem Post February 12, 2010 Israeli researchers have uncovered new genetic data to help explain the high rates of kidney disease among people of African descent. (ukrocharity.org)
  • In the 1990s, during the era of the Human Genome Project, many researchers were very optimistic about the capacity of such large-scale genetic projects to revolutionize the prevention of disease (e.g., , ). (pubmedcentralcanada.ca)
  • Despite these limitations, many researchers continue to advocate the use of genetic information to predict disease risk (e.g., ) and a number of private companies now offer this as a service on an individual basis. (pubmedcentralcanada.ca)
  • type 1 diabet
  • Type 1 diabetes (T1D) is a polygenic autoimmune disease that is often present with autoantibodies directed against pancreatic islet proteins. (diabetesjournals.org)
  • Type 1 diabetes (T1D) is a chronic disease that results from an immune-mediated destruction of the insulin-producing β-cells in the pancreatic islets of Langerhans. (diabetesjournals.org)
  • regions
  • The results establish the ways in which genetic information is controlled and expressed in specific cell types and distinguish particular regulatory regions that may contribute to diseases. (asbmb.org)
  • onset
  • Autoantibodies directed against islet antigens are often detected at the onset of disease in affected individuals and are a distinctive signature of the autoimmune process that takes place at the initiation of the disease. (diabetesjournals.org)
  • Autoantibodies against insulin protein (IAA), IA-2 (IA-2A), GAD (GADA), and zinc transporter 8 (ZnT8A) have also been demonstrated to predict the onset of T1D in individuals at high genetic risk of the disease ( 2 , 3 ). (diabetesjournals.org)
  • human
  • Completion of the human genome sequence offers a unique opportunity to understand the role of genetic factors in health and disease, and to apply that understanding rapidly to prevention, diagnosis, and treatment. (genome.gov)
  • diagnosis
  • The rich risk factor, environmental and health data as well as the genome- and methylome-wide data is used in studies ranging from assessing the role of physical activity, sleep, and transportation noise in cardio-metabolic disease etiology to the evaluation of chronic disease diagnosis and treatment. (swisstph.ch)
  • Traits
  • These include analysis of the impact of genomics on concepts of race, ethnicity, kinship, individual and group identity, health, disease, and "normality" for traits and behaviors, and defining policy options regarding the use of genomic information in both medical and non-medical settings. (genome.gov)
  • risk
  • Currently there are no examples of genetic screening for disease risk that satisfy these criteria. (pubmedcentralcanada.ca)
  • On the other hand, there are some cases in which genotypic information discriminates between subpopulations that differ markedly in disease risk. (pubmedcentralcanada.ca)
  • Can familial aggregation of disease be explained by familial aggregation of environmental risk factors? (ispn.guide)
  • Further research is needed to validate whether these genomic profiles can prospectively identify individuals at risk to develop CVDs. (frontiersin.org)
  • stroke
  • Of these deaths, an estimated 7.4 million were due to ischemic heart disease and 6.7 million were due to stroke ( 2 ). (frontiersin.org)
  • rare
  • A Massachusetts General Hospital (MGH)-led research team has found that a defect in transcription of the TAF1 gene may be the cause of X-linked dystonia parkinsonism (XDP), a rare and severe neurodegenerative disease. (medicalxpress.com)
  • understood
  • The pathogenetic mechanisms underlying the pathologic fibrosis in diseases such as idiopathic pulmonary fibrosis (IPF) are poorly understood. (stanford.edu)