RESUMO
PURPOSE OF REVIEW: To summarize recent advances with respect to the use of human pluripotent stem cells to study the genetics of blood lipid traits. RECENT FINDINGS: Human pluripotent stem cell models have been used to elucidate the mechanisms by which genes contribute to dyslipidemia, to discover new lipid-related DNA variants and genes, and to perform drug screens. SUMMARY: In addition to enabling a better understanding of the genetic basis of lipid metabolism, human pluripotent stem cells are identifying potential therapeutic targets as well as potential therapies.
Assuntos
Lipídeos/sangue , Células-Tronco Pluripotentes/citologia , Doença/genética , Avaliação Pré-Clínica de Medicamentos , Humanos , Lipídeos/genéticaRESUMO
Advances in genomics are enhancing our understanding of the genetic basis of cardiovascular diseases, both congenital and acquired, and stroke. These advances include finding genes that cause or increase the risk for childhood and adult-onset diseases, finding genes that influence how patients respond to medications, and the development of genetics-guided therapies for diseases. However, the ability of cardiovascular and stroke clinicians to fully understand and apply this knowledge to the care of their patients has lagged. This statement addresses what the specialist caring for patients with cardiovascular diseases and stroke should know about genetics; how they can gain this knowledge; how they can keep up-to-date with advances in genetics, genomics, and pharmacogenetics; and how they can apply this knowledge to improve the care of patients and families with cardiovascular diseases and stroke.
Assuntos
American Heart Association , Doenças Cardiovasculares/genética , Competência Clínica/normas , Educação Médica Continuada/normas , Testes Genéticos/normas , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/terapia , Prestação Integrada de Cuidados de Saúde/normas , Difusão de Inovações , Predisposição Genética para Doença , Genômica/educação , Genômica/normas , Humanos , Farmacogenética/educação , Farmacogenética/normas , Fenótipo , Valor Preditivo dos Testes , Prognóstico , Melhoria de Qualidade/normas , Indicadores de Qualidade em Assistência à Saúde/normas , Medição de Risco , Fatores de Risco , Estados UnidosRESUMO
The field of genetics and genomics has advanced considerably with the achievement of recent milestones encompassing the identification of many loci for cardiovascular disease and variable drug responses. Despite this achievement, a gap exists in the understanding and advancement to meaningful translation that directly affects disease prevention and clinical care. The purpose of this scientific statement is to address the gap between genetic discoveries and their practical application to cardiovascular clinical care. In brief, this scientific statement assesses the current timeline for effective translation of basic discoveries to clinical advances, highlighting past successes. Current discoveries in the area of genetics and genomics are covered next, followed by future expectations, tools, and competencies for achieving the goal of improving clinical care.