【复旦大学-分子遗传学学习】_Gene Therapy
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Gene Therapy
复旦大学出生缺陷研究中心
Human Have Three Genomes
Classification of Diseases
Inherited Diseases
Diseases Interacted by Gene and Environment
Acquired Diseases
Factor VIII and Hemophilia A
Gaucher`s Disease
➢ Gaucher disease is the most common of the inherited metabolic disorder known as lipid storage diseases.
Monogenetic Disorders
more than 8000 types Point mutation: missense, nonsense Shifting mutation: deletion,insertion, Region: Coding, regulation, splicing
Epigenetics Diseases
Prader-Willi Syndrome
Angelman Syndrome
➢ Beckwith-Wiedemann Syndrome: hemihypertrophy and nephromegaly, tumors. H19/IGF2 imprinting defects.
Chromosome Diseases Multiple Gene Diseases
Single Gene Diseases Mitochondrial Diseases
Epigenetic Diseases
Trauma SFra Baidu bibliotekffocate Radiation Starvation
Chromosomal Disorders
More than 100 types，mental retardation and growing development delaying are common characteristics. Numerical abnormalities and structure aberration 3000 types Abnormal chromosome in live infant is 5% Abnormal types: aneuploid (Trisomy 21, 18, 13)，deletion, duplication, circular choromosome, translocation, inversion, isochromosome
➢ Prader-Willi Syndrome: Autism, overweight, compact body build, underdeveloped sexual characteristics, and poor muscle tone. SNRPN (small nuclear ribonucleoprotein polypeptide N), Maternal Imprinting.
➢ Hereditary deafness ➢ α & β Thalassemia ➢ Sickle-cell anemia ➢ Glucose -6-phosphate dehydrogenase
deficiency ➢ Hemophilia A, B, C ➢ Factor V deficiency ➢ Familial hypercholesterolemia
Multiple Genetic Diseases
Autism(90%), Schizophrenia (80%), Congenital asthma (80%), Cleft lips and Palate(76%), Juvenile Diabetes (75%), Congenital dislocation of the hip (70%), Coronary heart disease (65%), Hypertension (62%), Idiopathic epilepsy (57.4%), Congenital heart disease (55%) .
➢ Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase.
Mitochondria Diseases
Maternal inheritance，more than 100 types diseases 1/6500 At least 350,000 patients in Europe USA：1/4,000 less than 10ys. 4,000 newborn patients. Deafness, diabetes, Leber optic-neuropathy
Cancers (Genetic and epigenetics changes) Hydrocephalus (49.6%), Peptic (37%), Senile diabetes (35%).
Cancer
Autism Spectrum Disorders，ASDs
➢ 1% population ➢ Autism Genome Project，AGP：2002，more than 50 institutes and 120 scientists all over the world. ➢ Susceptibility genes：124, NRXN1，MeCP2，CHD2, HDAC4, GDI1， SETD5, HDAC9，miR137, etc. ➢ Susceptibility loci: 55，15q11.2–q13 and 16p11.2 duplication, 16p11.2 and X-linked region（PTCHD1-PTCHD1AS）deletions.
复旦大学出生缺陷研究中心
Human Have Three Genomes
Classification of Diseases
Inherited Diseases
Diseases Interacted by Gene and Environment
Acquired Diseases
Factor VIII and Hemophilia A
Gaucher`s Disease
➢ Gaucher disease is the most common of the inherited metabolic disorder known as lipid storage diseases.
Monogenetic Disorders
more than 8000 types Point mutation: missense, nonsense Shifting mutation: deletion,insertion, Region: Coding, regulation, splicing
Epigenetics Diseases
Prader-Willi Syndrome
Angelman Syndrome
➢ Beckwith-Wiedemann Syndrome: hemihypertrophy and nephromegaly, tumors. H19/IGF2 imprinting defects.
Chromosome Diseases Multiple Gene Diseases
Single Gene Diseases Mitochondrial Diseases
Epigenetic Diseases
Trauma SFra Baidu bibliotekffocate Radiation Starvation
Chromosomal Disorders
More than 100 types，mental retardation and growing development delaying are common characteristics. Numerical abnormalities and structure aberration 3000 types Abnormal chromosome in live infant is 5% Abnormal types: aneuploid (Trisomy 21, 18, 13)，deletion, duplication, circular choromosome, translocation, inversion, isochromosome
➢ Prader-Willi Syndrome: Autism, overweight, compact body build, underdeveloped sexual characteristics, and poor muscle tone. SNRPN (small nuclear ribonucleoprotein polypeptide N), Maternal Imprinting.
➢ Hereditary deafness ➢ α & β Thalassemia ➢ Sickle-cell anemia ➢ Glucose -6-phosphate dehydrogenase
deficiency ➢ Hemophilia A, B, C ➢ Factor V deficiency ➢ Familial hypercholesterolemia
Multiple Genetic Diseases
Autism(90%), Schizophrenia (80%), Congenital asthma (80%), Cleft lips and Palate(76%), Juvenile Diabetes (75%), Congenital dislocation of the hip (70%), Coronary heart disease (65%), Hypertension (62%), Idiopathic epilepsy (57.4%), Congenital heart disease (55%) .
➢ Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase.
Mitochondria Diseases
Maternal inheritance，more than 100 types diseases 1/6500 At least 350,000 patients in Europe USA：1/4,000 less than 10ys. 4,000 newborn patients. Deafness, diabetes, Leber optic-neuropathy
Cancers (Genetic and epigenetics changes) Hydrocephalus (49.6%), Peptic (37%), Senile diabetes (35%).
Cancer
Autism Spectrum Disorders，ASDs
➢ 1% population ➢ Autism Genome Project，AGP：2002，more than 50 institutes and 120 scientists all over the world. ➢ Susceptibility genes：124, NRXN1，MeCP2，CHD2, HDAC4, GDI1， SETD5, HDAC9，miR137, etc. ➢ Susceptibility loci: 55，15q11.2–q13 and 16p11.2 duplication, 16p11.2 and X-linked region（PTCHD1-PTCHD1AS）deletions.