个体化医学-365心血管网.ppt

遗传性心血管疾病 (基因组医学进展) Genomic Medicine of Cardiovascular Disease;Genetics and Human Disease;一、教育部Cardio-X团队最近2年在心血管遗传学研究进展;二、Personalized or Genomic Medicine - The Genomic Revolution in Cardiac Care (个体化医学);个体化医学 ;Personalized Medicine (个体化医学);个体化医学分三步走;个体化医学的前景;个体化医学的前景;案例一: Long QT Syndrome and Cardiac Arrhythmias长QT综合征与心律失常;心律失常和猝死-长QT 综合征 (LQTS);QT;LQT1 Cardiac Potassium Channel KvLQT1 or KCNQ1 (1996); KCNQ1 is the first LQT gene mapped (Keating et al. 1991). encodes a novel cardiac potassium channel (Wang et al., 1996). consists of 16 exons, and spans approximately 400 kb. KCNQ1 is a potassium channel ?-subunit, with a conserved potassium-selective pore-signature sequence flanked by six membrane-spanning segments.;LQT2Cardiac Potassium Channel Gene HERG (1995);LQT3 Cardiac Sodium Channel Gene SCN5A;长QT综合征;Brugada Syndrome (Before 1998)Brugada综合征;第一个Brugada综合征基因发现SCN5A: MILESTONE (1998);第一个Brugada综合征基因发现: SCN5A;Brugada综合征;长QT综合征个体化医学Gene-Specific Therapy基因特异治疗;长QT综合征个体化医学;长QT综合征个体化医学;长QT与BrS综合征个体化医学;13% LQTS病人如无治疗，40岁前会发生心血管事件和猝死 36% LQTS病人如无治疗，40岁前会发生昏厥 不同类型LQTS 病人发生心血管事件和猝死的诱因不同;Triggers of cardiac events LQT1---vigorous physical activity LQT2---mostly by sudden loud noise (ringing of an alarm clock or telephone) and some with exercise activity LQT3---during sleep or at rest Identification of a specific gene for a specific LQTS patient may help the patient avoid specific triggers that induce syncope or sudden death;个体化医学已经在LQTS 综合征与 Brugada 综合征等遗传性心律失常领域实现实现 这是心血管医学领域第一个基因组或个体化医学案例 挽救了无数病人的生命。同时，该试剂盒也是世界医学领域第一个最理想的个体化诊疗案例,成为国际上经典医学教学材料 ;Warfarin Sensitivity Genotyping: A Review of the Literature and Summary of Patient Experience;抗凝药物 Warfarin 华法林;Warfarin Therapy;不同CYP2CP基因??用药量;不同VKORC1基因型用药量;不同CYP2C9和VKORC1基因型用药量;Statin is a drug used to lower cholesterol levels, and prevent cardiovascular events in patients with heart disease, but may work for only 30 to 70% of patients. The differences in drug response are linked to