The GHD Study Section will review applications involving the discovery, application and interpretation of genetic and genomic variation in human phenotype and disease.
The List of Reviewers lists all present, whether permanent or temporary, to provide the full scope of expertise present on that date. Lists are posted 30 days before the meeting and are tentative, pending any last minute changes.
The membership panel is a list of chartered members only.
- Discovery of genes and genetic variation for human health, disease, and disease susceptibility: Complex and Mendelian diseases such as psychiatric, neurological, ophthalmological, auditory, endocrinological, cardiovascular, developmental, reproductive, oncological, autoimmune, urological, respiratory; use of sophisticated genetic and genomic methods to identify candidate genes, single nucleotide polymorphisms, haplotypes, and copy number variation.
- Gene discovery and functional analysis using animal and cellular (human and animal) models: Development of explicit models of human genetic disease using vertebrate animals such as mice, rats, dogs, and non-human primates; use of models for studies of candidate genes and their functional analysis, pathogenetics, positional cloning, quantitative loci.
- Epigenetics and disease: Abnormalities in imprinting or X inactivation that lead to disease; gene and environmental interactions, or maternal genotypes that lead to epigenetic changes and disease; variation in epigenetic marks, non-coding RNAs, and epigenome mapping.
- Cytogenetics and disease: Chromosomal and genomic disorders, aneuploidy, translocations, mosaicism, chimerism, dosage effects.
Shared Interests and Overlaps
There are shared interests with Genomics, Computational Biology and Technology (GCAT) in the application of genomic technologies to the identification of genes involved in human disease. Grant applications where the main focus is the development of new methods irrespective of the disease may be assigned to GCAT. Grant applications where the main focus is to identify genes for a specific disease using existing methodologies may be assigned to GHD.
There are shared interests with Therapeutic Approaches to Genetic Diseases (TAG). Applications focused on genetic and genomic studies of Mendelian disease pathogenesis may be reviewed by TAG; Mendelian gene discovery with complex genetic or genomic methods may reviewed by GHD.
There are shared interests with Genetic Variation and Evolution (GVE). Applications that focus on revealing evolutionary concepts for generation of genetic variation in diseases may be reviewed in GVE; applications that use existing evolutionary concepts for gene discovery may be reviewed in GHD.
There are shared interests with Population Sciences and Epidemiology IRG study sections BGES, CHSA/CHSB, IRAP, KNOD, NAME: Applications related to genetic epidemiology in large human populations are assigned to PSE. Applications that use sophisticated genetic and genomic analyses to identify candidate genes, single nucleotide polymorphisms, haplotypes, and copy number variation in the etiology of diseases (including animal or other models) may be reviewed in GHD.
There are shared interests with Molecular Neurogenetics (MNG). Applications focused on neuroscience questions using genetic methods may be reviewed in MNG; those focus on complex genetic and genomic methods to discover genetic factors causing neurological diseases may be reviewed in GHD.
Other disease- or organ system-oriented study sections: Applications focused on the role of known candidate genes in the pathogenesis of a disease or on refining phenotypes for genetic studies of disease may be reviewed in a disease-oriented study section. Applications focused on the disease gene discovery with complex genetic and genomic methods may be reviewed in GHD.