1	ACoRN APPALACHIAN CARDIOVASCULAR RESEARCH NETWORK
2	WHAT IS ACoRN? Statewide resource for disease gene identification and genetic data analysis. ACoRN will initially seek to identify genes that cause or contribute to cardiovascular disease. Funded by NIH WV-BRIN grant.
3	ACoRN IS A SCIENTIFIC RESOURCE
4	What are multifactorial diseases? Disease are caused by one or more genes (mutations) and by environmental factors The disease is familial but no Mendelian pattern of inheritance can be detected. Genes that predispose or raise risk are called susceptibility genes Examples: Atherosclerosis, Alzheimer’s, type 2 diabetes, autism, hypertension, obesity
5	Multifactorial diseases Genetic heterogeneity: more than one susceptibility gene acting alone or in combination Phenotype can vary continuously (quantitative traits) Some have high incidence in a population and called Common Complex diseases
6	West Virginians have high risk of cardiovascular disease WV ranks 49^th in the prevalence of heart disease (ReliaStar Financial Corporation) WV ranks 50^th in risk of heart disease based on three factors: obesity, hypertension and sedentary lifestyle. (ReliaStar)
7	ACoRN RESEARCH PLAN IDENTIFY FAMILIES WITH INHERITED CARDIOVASCULAR DISEASES (MONOGENIC AND MULTIFACTORIAL) FIND DISEASE SUSCEPTIBILITY GENES THROUGH GENE MAPPING OR FUNCTIONAL GENOMIC APPROACHES GENE IDENTITY WILL HELP DETERMINE MECHANISM OF PATHOGENESIS
8	ACoRN TEAM CLINICIANS - IDENTIFY CV AFFECTEDS RURAL CLINICS (5 PLANNED) GENETIC COUNSELORS – PATIENT COUNSELING DATABASE MANAGER- DATA COLLECTION AND SHARING CARDIOVASCULAR RESEARCHERS AND GENETIC ANALYSTS- USE DATA TO IDENTIFY DISEASE GENES AND DEVELOP MODELS OF DISEASE DEVELOPMENT
9	IMPACT ON CARDIOVASCULAR DISEASE IDENTIFICATION OF SUSCEPTIBILITY GENES WILL LEAD TO: EARLY DETECTION OF DISEASE BETTER UNDERSTANDING OF PATHOGENESIS IMPROVED/EARLIER TREATMENT OF CV DISEASE
10	Commercial Interests Identification of disease genes and pathways can lead to development of (1) new targets for pharmacological agents (2) methods for reliable detection of mutation genotype (3) programs which tailor behavior modification to the underlying defect
11	Alzheimer’s Disease An example of a complex disease Early onset form caused by defects in either APP, presenilin1 or presenilin 2; These account for the majority of early onset cases, but only for 5% of all cases Late onset seems to related to allelic status at APOE where e4 raised risk and decreases age of onset