Introduction

Genetic View of Disease

Disease Caused by Environmental Factors

Disease Cause by both E + G

Disease Determined by G, need induction of E

Disease Caused by Genetic Factors

Genetic Factors and Chronic Diseases

Genetic Diseases Fight Infectious Diseases

Sickle Cell Trait and Malaria
Cystic Fibrosis and Cholera
Tay-Sachs Disease and Tuberculosis

Why some genetic disease are more popular in some population？

Genetic of Infectious Diseases

All Human Traits are Heritable

What is Medical Genetics

Human genetics that relates to disease
Study of diseases with genetic origin
Application of genetics to medical practice
Service provided for those related to genetics (e.g. Counseling)

Medical Genetics vs Human Genetics

Myths of Human Genetics

Medical Genetics vs Clinical Genetics

Development of Medical Genetics

Mendelism : 1865 & 1990
Cytogenetics: XXY Klinefelter syndrome & XO Turner syndrome
Biochemical Genetics : Alkaptonuria
Immunogenetics : ABO blood types
Statistical, Formal, and Population Genetics
Chromosomology : Banding → Molecular Cytogenetics
Somatic Cell Genetics : HeLa Cell
Molecular Genetics : DNA
Chromosome Mapping
The Human Genome Project and Genomics

Before Mendel

By pedigree studies, Pierre de Maupertuis found polydactyly (extra digits) and albinism (lack of pigmentation) were inherited in different ways.

Mendel’Laws

Law of segregation
Law of independent assortment
Law of dominance

A type of inheritance that follows these laws is termed Mendelian inheritance.

The basic unit of heredity was latter termed as gene by Johannsen.

Online Mendelian Inheritance in Man (OMIM)

Genetic Disease

Disease inheritable
Disease caused, totally or partially by genetic abnormalities （Classical）
Disease with Genetic relevance
Precision Medicine: consider genetic factors in all medical practice

Characteristics of Genetic Diseases

Vertical Transmission

Quantity Distribution

Specific Quantitative distribution pattern
Different in inheritance patterns

Congenital

Congenital, but Not Genetic: Birth defects caused by environmental factors
Huntington’s Disease

Familial

Some may be infectious (Prion Diseases)

Categories of Genetic Disease

Single-Gene Disorder

Chromosome Abnormalities

Severe

Multifactorial/Polygenetic Disorders

Popular

Acquired Somatic Genetic Disease

Cancer

Mitochondrial genetic disorder

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