
The Genetics Core of the OAIC provides the infrastructure and expertise in cutting-edge genomic technologies to find and understand the molecular and genetic contributors to frailty and related phenotypes. The Core also provides mentorship and training for investigators interested in the biology and genetics of aging and frailty. Investigators with specific questions related to aging and frailty research are invited to apply for genetic and analytic resources and training http://www.jhsph.edu/agingandhealth/Pepper/RFPS/index.html. The leadership of the Genetics Core includes: - Director - Aravinda Chakravarti, PhD, Professor of Medicine in the Institute for Genetic Medicine at Johns Hopkins University School of Medicine
- Co-Director (genetic epidemiology) - Daniele Fallin, PhD, Associate Professor of Epidemiology in the Johns Hopkins University Bloomberg School of Public Health
- Co-Director (clinical medicine) - Jeremy Walston, MD, Associate Professor of Geriatric Medicine, Johns Hopkins University School of Medicine
- Co-Director (genomics) – Dan Arking, PhD, Assistant Professor of Genetics in the Institute for Genetic Medicine at Johns Hopkins University School of Medicine
Interactions built into this Genetics Core between geneticists, biostatisticians, genetic epidemiologists and geriatricians have facilitated greatly improved access to the latest and most efficient genotyping technology, and to an analytical infrastructure that can be utilized to understand the role of the frailty syndrome in disease presentation and outcomes. In addition, Genetics core leaders provide junior investigators and others interested in frailty and aging related conditions with study design expertise and facilitate access to large populations of older adults with previously measured phenotypic data relevant to frailty. This in turn helps to facilitate the identification of the genetic causes or risk factors underlying frailty will directly lead to improved clinical research and treatments, the aims of which include the prevention and amelioration of the premature onset and progression of frailty associated with aging. Genetic Epidemiology
Previous and Current Projects: The genetics core has supported multiple investigators from a wide variety of disciplines. Projects include small scale, single functional SNP genotyping using Taqman technology, mid-range (50-100 SNPS) in functional gene clusters, to high-throughput candidate gene pathway saturation using Illumina technology. Genotypes have been used in association studies evaluating the phenotype of frailty and endophenotypes of muscle strength, inflammation as measured by serum cytokines, and cognitive decline. Planned studies include evaluations of neuroendocrine, pulmonary, and immune system Endophenotypes that are being developed in collaboration with the Biostatistics Core. To date, these studies have been utilized to support the funding of two R-01 evaluating frailty related phenotypes and genotypes in older adults, and a recent development project has helped to identify gene variants in apoptosis related genes, suggesting that this process may play an important role in the development of skeletal muscle decline in older, frail adults. Other ongoing development and core supported projects aim to further explore the biology that underlies frailty, and includes 1) a large scale genotyping of the mitochondrial genome and association study related to frailty, 2) the development of a frail mouse model that will allow for further hypothesis development because of the availability of tissues and biological samples, and 3) coordination of whole genome scanning studies for analyses related to frailty. Future directions developed based on results generated from studies supported to date include the development of epigenetic technologies and applying them to frailty related questions, application of gene expression and mitochondrial measurement technologies to test frailty related hypotheses in a variety of tissues, and the development of a mouse and human tissue bank from which investigators can draw for future studies.  |