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.
The membership panel is a list of chartered members only.
- Discovery and characterization of genetic and genomic variation that includes single nucleotide polymorphisms (SNPs), haplotypes, common and rare genetic variants, copy number variants, and gene regulatory elements associated with human health and diseases that involve but are not limited to the cardiovascular, neurological, auditory, immunological, respiratory, ophthalmological, psychiatric, endocrinological, reproductive, and urological systems.
- Studies focusing on SNPs, gene loci and genomic regions to identify or advance understanding of those regions, role of loci and genetic risks with methods including but not limited to genome-wide association studies, quantitative trait locus (QTL) and eQTL analysis, polygenic risk score assessment, admixture mapping and genetic ancestry analysis, whole genome and exome sequencing, and genome organization analyses.
- Epigenetic modification and regulation in human health and diseases that include but are not limited to DNA methylation and imprinting, X inactivation, histone modifications, non-coding RNAs, gene - environment interactions, maternal and paternal effects in the context of genetic and genomic variation in order to identify or advance understanding of molecular processes.
- Aneuploidy, translocations, chimerism, mosaicism, and dosage effects in the context of genetic and genomic variation in human phenotype and disease.
Shared Interests and Overlaps
There are shared interests in the application of genomic technologies to the identification of genes involved in human disease with Genomics, Computational Biology and Technology (GCAT). Applications that emphasize the identification genes for a specific disease using existing methodologies are reviewed in GHD. Applications that emphasize the development of new genomic and epi-genomic methods irrespective of the disease are reviewed in GCAT.
There are shared interests in evolutionary biology topics and methods with Genetic Variation and Evolution (GVE). Applications that use existing evolutionary concepts for gene discovery are reviewed in GHD. Applications that emphasize revealing evolutionary concepts for generation of genetic variation in diseases are reviewed in GVE.
There are shared interests in rare genetic disease with Therapeutic Approaches to Genetic Diseases (TAG). Applications that emphasize mendelian gene discovery with complex genetic or genomic methods are reviewed in GHD. Applications that emphasize molecular mechanisms of genetic disease pathogenesis or focused on development of therapies are reviewed in TAG.
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.