医学遗传学教学课件：Chapter 13-遗传病的治疗.pptVIP

* GOF: gain of function LOF: loss of function * * Purpose of gene transfer Compensate for a loss-of-function mutant gene补偿功能丧失的突变基因. Lysosomal storage diseases Replace or inactivate a dominant mutant gene whose abnormal product causes the disease.替换或失活显性突变基因 Pharmacological effect药理效应 to counteract the effects of a mutant cellular gene or genes or to counteract disease pathogenesis in some other way. * * * Treatment Strategies Multilevel intervention多级干预 supportive treatment …. …. …. education * * The Current State of Treatment of Genetic Disease Multifactorial Diseases Single-Gene Diseases Special Considerations in Treating Genetic Disease The Need for Long-term Assessment of Treatment Genetic Heterogeneity and Treatment Treatment Strategies Treatment of Metabolic Abnormalities Dietary Restriction, Replacement, Diversion, Inhibition Depletion, Enhancement of the Function of the mutant Protein, Protein Replacement, Modulation of Gene Expression Modification of the somatic Genome by transplantation Bone Marrow Transplantation Liver transplantation Gene Therapy Purpose of gene transfer * 时间 考场 考生 备注 考试时间 4月16日(周三) 13：30- 15：30 5教 基础-12(63人) 临床12-1 (40人) 答疑时间: 4月9日(周三) 下午13:30-15:00 4月8日（周二） 下午13:30-15:00，基础班 地点:解剖楼234 逸夫楼402 临床12-4(41人) 临床12-3(21人) 逸夫楼408 临床12-2(23人) 临床12-5(42人) 考 试 通 知 * * PTC124 * * Antisense-induced exon skipping外显子跳跃与缺失重复突变 * 渐冻人：ALS 重症肌无力：MG Duchenne Muscular Dystrophy (DMD) * * * * * * * * * * * * * * * * * * Treatment Strategies Modulation of Gene Expression Sickle Cell Disease, Thalassemia Hydroxyurea羟基脲：ribonucleotide reductase inhibitor 核酸还原酶抑制剂 * * * Treatment Strategies Modification of the Somatic Genome by Transplantation Bone marrow transplantation: β-thalassemia, MPS I (Hurler symdrome) Kidney transplantation: Fabry disease Liver transplantation: α1