Genetics of Health and Disease Study Section – GHD
The Genetics of Health and Disease (GHD) study section reviews applications that focus on the discovery, application and interpretation of genetic and genomic variation in human phenotype and disease. These topics are investigated using molecular genetics and genomics approaches, employing human subjects and data, cultured mammalian cells, and animal model systems. Applications focused on the role of known candidate genes in the pathogenesis of a disease or on refining phenotypes for genetic studies of disease are reviewed in other disease-oriented study sections.
Review Dates
Topics
- Discovery and characterization of genetic and genomic variation associated with human health and diseases that involve, but are not limited to, the cardiovascular, respiratory, metabolic, neurological, psychiatric, immunological, auditory, ophthalmological, reproductive, and urological systems.
- Studies focused on single nucleotide polymorphisms, haplotypes, common and rare genetic variants, copy number variants, and gene regulatory elements.
- Analysis of gene loci and genomic regions to identify or advance understanding of those regions, role of loci, and genetic risks.
- Application and interpretation of genome-wide association studies, polygenic risk scores, whole genome and exome sequencing.
- Assessment of quantitative trait loci (QTL) and eQTL, admixture mapping, and genetic ancestry.
- Epigenetic modification and regulation in human health and diseases that include, but are not limited to, DNA methylation and imprinting, histone modifications, non-coding RNAs, and X inactivation.
- Role of gene x environment interactions, maternal/paternal effects, aneuploidy and translocations, chimerism, mosaicism, and dosage effects in the context of genetic and genomic variation.
Shared Interests and Overlaps
There are shared interests in genetic, genomic and epigenetic factors contributing to the risk factor and/or pathogenesis of neurodegenerative disorders with Clinical Neurodegeneration Translational Neuroscience (CNTN). Applications that strongly emphasize the genomic or transcriptome functions in neurodegenerative disorders are reviewed in GHD. Applications that emphasize on risk factors, biomarkers, diagnosis, and treatment of neurodegenerative diseases are reviewed in CNTN.
There are shared interests in the application of genomic technologies to identify and characterize genes involved in human disease with Genomics, Computational Biology and Technology (GCAT). Applications that emphasize the discovery and analysis of genes for a specific disease using existing methodologies are reviewed in GHD. Applications that emphasize the development of new genomic and epigenomic methods irrespective of the disease are reviewed in GCAT.
There are shared interests in genetics of complex traits, genotype- phenotype mapping with Genetic Variation and Evolution (GVE). Applications that focus more broadly on consequences of genetic variation are reviewed in GVE. Applications that use existing evolutionary concepts for the discovery of genetic variation underlying specific human diseases are reviewed in GHD.
There are shared interests in rare genetic diseases with Therapeutic Approaches to Genetic Diseases (TAG). Applications that focus on the discovery, application and interpretation of genomic variation with respect to rare genetic diseases are reviewed in GHD. Applications that focus on the mechanisms by which genomic abnormalities lead to rare genetic disease pathogenesis and the development of therapeutics for genetic diseases are reviewed in GVE.
There are shared interests in genetics of neuroscience with Molecular Neurogenetics (MNG). Applications in which the focus is on molecular genetic and genomic variation are reviewed in GHD. Applications that emphasize neurodevelopment, neural function and neuropathology aspects are reviewed in MNG.
There are shared interests in assessing genetic predisposition to diseases and the identification of genetic and epigenetic risk or protective factors relating to diseases in large human population studies with Epidemiology and Population Health Branch study sections AIMR, PRID, CRD, CHD, KEDD, and RPPH. in large human population studies. Applications that emphasize discovery of genetic, genomic, epigenomic elements and molecular signatures are reviewed in GHD. Applications that emphasize how these factors contribute to health outcomes in populations are reviewed in study sections in the Epidemiology and Population Health Branch.
There are shared interests in studying the genetic predisposition to disease using population-based samples with Social and Environmental Determinants of Health (SEDH). Applications in studying the genetic predisposition to disease using population-based samples are reviewed in GHD. Applications that emphasize the social or environmental genomics/epigenomic factors related to human diseases or conditions at the population level are reviewed in SEDH.
