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What Is Medical Genetics?: An Introduction

Medical genetics began with Mendel's work on inheritance in pea plants in 1866. Major developments include discovering that DNA is the genetic material in 1944, determining the double helix structure of DNA in 1953, and sequencing the first bacterial genome in 1995. Until the 21st century, medical genetics focused on rare inherited disorders. Advances in genomics now allow personalized healthcare through analysis of gene interactions, variations, expression, and environmental influences. Genetic diseases include chromosome disorders causing excess or deficient genes, single-gene disorders from mutations of individual genes, and multifactorial disorders with multiple genetic and environmental factors.

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25 views

What Is Medical Genetics?: An Introduction

Medical genetics began with Mendel's work on inheritance in pea plants in 1866. Major developments include discovering that DNA is the genetic material in 1944, determining the double helix structure of DNA in 1953, and sequencing the first bacterial genome in 1995. Until the 21st century, medical genetics focused on rare inherited disorders. Advances in genomics now allow personalized healthcare through analysis of gene interactions, variations, expression, and environmental influences. Genetic diseases include chromosome disorders causing excess or deficient genes, single-gene disorders from mutations of individual genes, and multifactorial disorders with multiple genetic and environmental factors.

Uploaded by

dr_47839666
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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What Is Medical Genetics?

An Introduction
The history
The history of genetics (Modern genetics) began with the work of the Augustinian
friar Gregor Johann Mendel. His work on pea plants, published in 1866, described
what came to be known as Mendelian Inheritance.
In 1902, Walter Sutton and Theodore Boveri, using dyes synthesized by the
German organic chemistry industry, observed that "colored bodies" in cells
behaved in ways parallel to the hypothetical agents of heredity proposed by
Mendel. These bodies were called chromosomes.
In 1905, Nettie Stevens observed in Tenebrio beetles that all pairs of
homologous chromosomes are the same size, except for one pair which
determines sex (X & Y).
In 1944, Oswald Avery identified DNA as the genetic material. Pieces of DNA
can transfer genes into bacteria cells, and transform them genetically.
In 1953, Rosalind Franklin and Maurice Wilkins showed that DNA is a double
helix.
In 1970, Temin and Balitimore discovered reverse
transcriptase in retroviruses; an enzyme later used to clone
genes based on the RNA encoding the product.
In 1987, Kary Mullis invented the polymerase chain
reaction (PCR), using a thermostable enzyme from a
thermophilic bacterium discovered by Thomas Brock at a
geyser in Yellowstone.
The first bacterial genome sequence, Haemophilus
influenzae, was completely determined in 1995.
In 1996, Ian Wilmut cloned the lamb Dolly from adult
mammary gland tissue. In 2000, Completion of the human
genome
Genetic Medicine
Until the 21st Century…
Medical Genetics was considered as the detection and treatment of a few phenotypically rare
hereditary disorders.

Pre- & perinatal diagnosis Analysis of birth defects Treatment of abnormalities


in development
Genomic Medicine Arises

Advances in Genomics, Proteomics, and DNA


Sequencing allowed for the development of
Genomic Medicine; this includes:
• Personalized health care

• Predictive (precision) medicine

• Previvorship – surviving a conditionbefore


it happens

• Potential application of gene therapies


Today, Genetics and Genomics Go Hand in Hand

Applying the analysis of the human genome and its products


to medicine, we now consider:

Control of gene Environmental


Gene interactions Gene variations
expression interactions
Categories of Genetic Diseases
Today, Genetics and Genomics Go Hand in Hand

Categories of genetic diseases

Chromosome Single-gene Multifactorial


disorders disorders disorders
Chromosome Disorders

• Are large-scale mutations of the


chromosomes

• Excess or deficiency of genes –


e.g. Down syndrome (trisomy21)

• No mutation in individualgenes

• Duplication or deletion of smaller


segments
Chromosome Disorders

• Are large-scale mutations of the


chromosomes

• Excess or deficiency of genes –


e.g. Down syndrome (trisomy21)

• No mutation in individualgenes

• Duplication or deletion of smaller


segments
Chromosome Disorders

• Are large-scale mutations of the


chromosomes

• Excess or deficiency of genes –


e.g. Down syndrome (trisomy21)

• No mutation in individualgenes

• Duplication or deletion of smaller


segments
Chromosome Disorders

• Are large-scale mutations of the


chromosomes

• Excess or deficiency of genes –


e.g. Down syndrome (trisomy21)

• No mutation in individualgenes

• Duplication or deletion of smaller


segments
Single-gene Disorders

• Localized small-scale mutations

• Mutation of individual genes(e.g. sickle


cell anemia, cystic fibrosis)

• Follow classic inheritance patterns


(autosomal recessive/dominant, X-linked)
Single-gene Disorders

• Localized small-scale mutations

• Mutation of individual genes(e.g. sickle


cell anemia, cystic fibrosis)

• Follow classic inheritance patterns


(autosomal recessive/dominant, X-linked)
Single-gene Disorders

• Localized small-scale mutations

• Mutation of individual genes(e.g. sickle


cell anemia, cystic fibrosis)

• Follow classic inheritance patterns


(autosomal recessive/dominant, X-linked)

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