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Genetics Course: Mastering Medical Genetics Dr. Ahmed Elshebiny , MD Lecturer of Internal Medicine Faculty of Medicine, Menoufyia University Former Clinical Research Fellow, Joslin Diabetes Center, Harvard University
Course includes ,[object Object],[object Object],[object Object],[object Object]
Medical Genetics ,[object Object],[object Object],[object Object]
Outline The Genetics course Basics Diseases Applications Structure & Facts Functions Inherited disorders  Gene Therapy Cloning Stem Cell Genetic Testing
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Basic Principles of Medical Genetics Structure & Facts of  the Human Genome Functions  & Physiology Clinical Genetics
2- Genetic basis of disease ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
3-Medical Genetics in Clinical Practice ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Genetics Course (1): Mastering Medical Genetics Basic Principles of Medical Genetics
The Human Nuclear Genome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
DNA Structure
DNA Structure
Epigenetics ,[object Object],[object Object]
Chromosome Facts ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Chromosomal morphology methods ,[object Object],[object Object]
Chromosomal Banding
Chromosomes
Mitochondrial DNA ,[object Object],[object Object],[object Object]
Function of DNA The Human genome functions
Gene Expression ,[object Object],[object Object]
Meiosis , Mitosis and Gametogenesis ,[object Object],[object Object],Where do your genes come from?
Genomic imprinting ,[object Object],[object Object],[object Object],[object Object],[object Object]
Population Genetics ,[object Object],[object Object],[object Object],[object Object],SNPs
Polymorphism  ,[object Object],[object Object],[object Object],[object Object]
Clinical genetics ,[object Object]
Inherited disorders ,[object Object],[object Object],[object Object],[object Object]
Clinical Genetics ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Autosomal dominance ,[object Object],[object Object],[object Object],[object Object]
Autosomal Dominant Conditions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Autosomal Recessive Inheritance ,[object Object],[object Object],[object Object],[object Object]
Autosomal Recessive Conditions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
X-linked recessive inheritance ,[object Object],[object Object],[object Object],[object Object],[object Object]
X-linked recessive conditions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Xplinked dominant ,[object Object],[object Object],[object Object]
X-linked dominant inheritance ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Mitochondrial inheritance ,[object Object],[object Object],[object Object]
Family Medical History ,[object Object]
References ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
THANK  YOU
Genetics Course (2): Mastering Medical Genetics Genetic Basis of Disease
Genetic basis of disease ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Cytogenetic Single gene Polygenic
Inherited disorders ,[object Object],[object Object],[object Object],[object Object],Cytogenetic Single gene Polygenic and  multifactorial
MCQ  1 ,[object Object],[object Object],[object Object],[object Object],[object Object]
MCQ 2 ,[object Object],[object Object],[object Object],[object Object],[object Object]
understanding genetic basis of disease helps guide therapy ,[object Object],[object Object]
Cytogenetic abnormalities ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Numerical  Structural
Numerical Chromosomal abnormalities ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
 
Turner Syndrome ( Monosomy X) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Turner syndrome
Turner’s associated complications ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Treatment of Turner syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object]
Is Turner Syndrome “hereditary”? ,[object Object],[object Object],[object Object]
Klinfilter syndrome
47,XXY
Klinefelter Syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Other sex Chromosomal aneuploidies ,[object Object],[object Object]
Autosomal Aneuploidies ,[object Object],[object Object],[object Object]
Dawn syndrome
Microdeletion Syndromes ,[object Object],[object Object]
2-Genetics and  Metabolism
Genetics and metabolism Carbohydrate Lipids Amino acid Degradation Urea cycle Transport
Genetics of  Carbohydrate Metabolism ,[object Object],[object Object],[object Object],[object Object],[object Object]
Genetics of  Lipid Metabolism ,[object Object],[object Object]
Genetic diseases involving degradation pathways ,[object Object],[object Object],Tay –Sach’s disease Hunter syndrome video
Tay-Sachs disease ,[object Object],[object Object],[object Object]
Genetics of transport pathways ,[object Object],[object Object],[object Object]
Trinucleotide repeat disorders ,[object Object],[object Object],[object Object],[object Object]
Fragile X syndrome ,[object Object],[object Object],[object Object],[object Object],Fragile x video
Fragile X syndrome
4-Genetics and CV disease ,[object Object],[object Object],[object Object],[object Object]
Marfan Syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],Marfan syndrome video
5-Cystic fibrosis
Cystic fibrosis
6-Genetics in Hematology ,[object Object],[object Object],[object Object],[object Object]
Sickle cell disease
7- Genetics and Rheumatology ,[object Object]
Genetics and Renal diseas ,[object Object],[object Object],[object Object]
8- Genetics and Neurology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
9-Tumors, Cancer and Genes ,[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object]
Jewish Heritage Screening ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Multifactorial and Polygenic disorders ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
References ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
THANK  YOU

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