- Neurological disorders
- Metabolic disorders
- Immunology
Neurological disorders:
- Developmental / psychological disorders：特征：发病时期早
- Down syndrome 唐氏综合征
- Rett syndrome, Mecp2 mutations
- 脆性X综合征 Fragile-X syndrome
- Louis-Bar syndrome 共济失调
- Neurodegenerative disorders，后发疾病，影响因素多
- Alzheimer’s disease (APP, presenilin, tau mutations)
- Parkinson’s disease
- Amyotrophic lateral sclerosis 肌萎缩侧索硬化症
- 多发性硬化症，自身免疫病
- Traumatic injuries 创伤性损伤
小鼠模型举例：
- 渐冻症，ALS
- Mouse models for ALS
- Gain of function & Loss of function
- Common mutations:
- SOD1，超氧化物歧化酶
- TDP43
- 创伤性损伤
- 坐骨神经损伤 sciatic nerve injury
- 脊髓损伤 spinal cord injury
Metabolic disorders in humans
Examples:
- Hyperglycemia / Diabetes (Type 2)
- Hyperlipidemia
- Obesity
- Niemann-Pick disease
- Phenylketonuria 苯丙酮尿症
小鼠模型举例：
- Obesity 肥胖
- ob / ob & db / db mice，使用连体共生方法（可以使两个小鼠交换体液）
- Hypercholesterolemia
- 合成和降解pathway