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CTSI: Amish Complex Disease & Wellness Biobank

This biobank – DNA, serum, urine, leukocytes/lymphblastoid cell lines, and in some subjects adipose tissue and platelets – from more than 6,000 Amish subjects. All subjects from this genetically homogeneous founder population are part of a single 14-generation pedigree and relationships are known through the Annabaptist Genealogical Database (AGDB). Extensive phenotype data is available in these subjects. Most have had genome-wide genotype data and a growing subset also have leukocyte genome-wide expression profiling, and exome and whole genome sequence. Research subjects gave broad permission for use of their samples for genetics research and have also provided permission to recontact for possible participation in future studies. Through the Amish Research Clinic and the Amish Wellness Mobile, recruitment into the Amish Complex Disease and Wellness Biobank is ongoing. Accruing at a rate of approximately 1,500 subjects per year, we expect to complete total ascertainment of virtually all Amish adults in Lancaster County (approximately 12,000 subjects) within the next 4 years. The Amish Complex Disease and Wellness Biobank has been used for a number of important discoveries. For example, Dr. Pollin identified the first null mutation in APOC3. Follow-up studies indicated low triglycerides, cardioprotection, and longevity in R19X APOC3 carriers. Her new R01 grant will study further underlying mechanisms, studies that will be performed at the Amish Research Clinic PCIR. Based on this discovery, several pharmaceutical companies have initiate ApoC3 inhibitor programs, e.g., ISIS, Pfizer.