[GHD Roster] 

The GHD Study Section will review applications involving the discovery, application and interpretation of genetic and genomic variation in human phenotype and disease. 

Specific areas covered by GHD: 

• Genetic basis of Mendelian and non-Mendelian human diseases
• Mapping and identification of normal and disease phenotypes, including those associated with rare disorders
• Genetic and epigenetic phenomena such as imprinting, X inactivation, repeat expansions, genetic recombination and DNA repair, where genetic disease is emphasized
• Non-Mendelian traits including mitochondrial and organelle diseases
• Quantitative genetics of complex traits, genetic dissection, including QTL (quantitative trait locus) mapping
• Disease-related variations including SNPs (single nucleotide polymorphisms) and haplotypes
• Cytogenetics and chromosome disorders
• Genome architecture and genomic disorders
• Pharmacogenetics and biochemical genetics, including inborn errors of metabolism
• Interaction of the genome with exogenous factors including environment and maternal genotype
• Explicit models of human diseases, including mouse, Drosophila, zebra fish, and other organisms
• Genetic, pre-implantation and prenatal diagnostics
• Therapeutic approaches to genetic disease including gene and protein replacement therapy
• Translational genetics, including outcome studies concerning genotype-phenotype correlation and the application of fundamental genetics to clinical practice
• Genetic epidemiology, population and newborn screening, and public health applications of genetics 

GHD has the following shared interests within the GGG IRG: 

• With Molecular Genetics-A, -B, & -C [MGA, MGB, & MGC]: Cytogenetic studies relating to diagnosis or disease processes could be assigned to GHD. Studies that address fundamental questions about chromosome structure and organization could be assigned to MG. Studies on imprinting, X-inactivation, organelle genetics, recombination and DNA repair could be assigned to GHD if the emphasis is on genetic disease. If the focus is on molecular mechanisms, such applications could be assigned to MG. 

• With Genomics, Computational Biology and Technology [GCAT]: Genome scale studies applying workable technologies and approaches to human diseases may be appropriate for assignment to the GHD study section. Large-scale genomic and global studies may be appropriate for assignment to the GCAT study section.  

• With Genetic Variation and Evolution [GVE]: Genetic variation and complex trait mapping are shared interests. GVE may be appropriate for applications emphasizing evolutionary aspects of complex trait analysis and comparative genomics, including experimental, statistical, and theoretical methods. GHD may be more appropriate for applications emphasizing human variation in disease. 

GHD has the following shared interests outside the GGG IRG:

• With the Bioengineering Sciences & Technologies [BST] IRG: Gene transfer and therapies are shared interests. Applications on gene therapy for human genetic disorders may be assigned to GHD. Applications on developing technology for gene transfer may be assigned to BST.

• With the Health of the Population IRG [HOP] IRG: Applications with a primary focus on the genetic etiology of a disease could be reviewed by the GHD study section. Applications with a primary focus on genetics as a risk factor in an epidemiologic study could be reviewed by HOP.
  
  
• With the Neuroscience IRGs - Molecular, Cellular & Developmental Neuroscience [MDCN]; Integrative, Functional, & Cognitive Neuroscience [IFCN]; and Brain Disorders & Clinical Neuroscience [BDCN]: Applications with a focus on gene/genomic/genetic disease could be reviewed by the GHD study section. However, applications with a primary focus on neuroscience processes could be reviewed by MDCN, IFCN, or BDCN. Thus, proposals focusing on gene discovery and the genetic dissection of non-Mendelian human diseases and traits using complex or novel technologies may be more appropriate for GHD, while those using established genetic methods to study Mendelian diseases or complex diseases and traits where a specific gene unambiguously has been identified may be more appropriate for other IRGs.  

• With the Organ-system/Disease IRGs - Biology of Development & Aging [BDA]; Immunology [IMM]; Oncological Sciences [ONC]; Hematology [HEME]; Cardiovascular Sciences [CVS]; Endocrinology, Metabolism, Nutrition, & Reproductive Sciences [EMNR]; Musculoskeletal, Oral, & Skin Sciences [MOSS]; Digestive Sciences [DIG]; Respiratory Sciences [RES]; and Renal & Urological Sciences [RUS]: Assignment of a genetic disease application to an organ-system/disease IRG or to GHD should be based on the nature of the scientific question(s) being addressed.  Studies directed at a single organ-system or disease could be assigned to the organ system or disease IRG if the focus is primarily on the elucidation of specific known disease mechanisms, molecules, or pathways.  Assignment could be to GHD if the study uses molecular or other methods for gene discovery in complex, non-Mendelian diseases, or if the study involves an emerging approach for which expertise resides in GHD. Thus, proposals focusing on gene discovery and the genetic dissection of non-Mendelian human diseases and traits using complex or novel technologies may be more appropriate for GHD, while those using established genetic methods to study Mendelian diseases or complex diseases and traits where a specific gene unambiguously has been identified may be more appropriate for other IRGs (e.g., ONC, BDA, DIG, IMM, RUS, or EMNR).