罕见病从溶酶体病说起高级医学遗传学.ppt

罕见病 ---从溶酶体病说起;第47期 科学家与媒体面对面活动关注罕见病;故事从一个罕见病说起…….;溶酶体贮积症 LSDsLysosomal Storage Disorders;贮积物的性质和形态可以作为鉴别诊断的依据;溶酶体贮积症分类;Fabry Disease;Fabry Disease;Fabry Disease;Fabry Disease;Fabry Disease;Classification by Clinical Features;Typical disease course in a classically affected male hemizygote with Fabry disease.;Fabry Disease;肥厚型心肌病患者中 3-6% 为Fabry;肾透析病患者中 0.2% 为Fabry;18-55岁脑中风病人中 2 - 5% 为Fabry;常见的病，罕见的病因。;罕见病的定义;罕见病 Rare Diseases ;罕见病是病种细分后的必然结果;面对“罕见病时代”我们准备好了吗？;;“Soon there will be no disease called breast cancer,” says Draghia-Akli. Instead, the catch-all term will be replaced by “a large number of rare diseases, each of which causes malignant growth in breast tissue and requires individual treatment”. ;Trastuzumab 曲妥珠单抗 治疗 HER-2阳性 乳腺癌 ;遗传性罕见病的治疗现状这么惨吗？;《探究36种遗传代谢性疾病在中国进行新生儿筛查的必要性与可行性的前期理论研究》;Current State of Treatment of Genetic Disease;Current State of Treatment of Genetic Disease Single-Gene Diseases;;;2014年第三届DMD康复与治疗国际研讨会 ;罕见病公共政策制定的策略问题;面对“罕见病”时代， 我们准备好了吗？;病友会的重要作用;北医三院 樊东升教授;整理ppt;整理ppt;整理ppt;整理ppt;整理ppt;整理ppt;《中文罕见病数据库》;此课件下载可自行编辑修改，供参考！ 感谢您的支持，我们努力做得更好！