Medical Genetics PPT - 093846

* MEDICAL GENETICS
→ is the branch of Medicine that involves the diagnosis

and management of hereditary disorders.
HISTORY OF MEDICAL
GENETICS
Emerged from a basic science only one half century
ago. It started to develop, albeit slowly, during the
first half of the 20th Century.
Mathematical approaches were also devised and

applied o human genetics.
* MEDICAL GENETICS
*HISTORY
Even before the use of modern laboratory
techniques, Pediatric departments spearheaded the
clinical description of simple genetic disorders,
syndromes, and major malformations.
In 19th century with the work of the Bohemian monk
Gregor Mendel and other pioneering scientist, human
genetics emerged later.
* Medical genetics was a late developer, emerging

largely after the close of World War ││ (1945) when
the eugenics movement had fallen into disrepute.
When did Medical genetics start?
McKusick in 1993 stated that clinical genetics

originated in 1959 when human cytogenetics and
biochemical genetics developed into mainstream
subjects of research and its medical applications.
The term “genomics” derived from genome

( coined by Winkler in 1920), was introduced in
1987.
Who invented Medical Genetics?
In 1966, McKusick created the first edition of his now classic
reference Mendelian Inheritance in Man, an ever-enlarging
compilation of inherited disease genes.
* MAIN DISCOVERY IN
MEDICAL GENETICS
1. Rules of Heredity (1850)
Austrian monk and botanist Gregor Mendel
discovers how genetic information is passed
down through generations. In experiments
performed on pea plants, he notices that
characteristics of a plant’s offspring, such as
height, exhibit recessive and dominant behavior.
2. Genes are Located on Chromosomes (1910-
1920)
Thomas Hunt Morgan discovers that genes are located on
chromosomes. Working on fruit files, he concludes that
certain traits are linked to gender and that those traits are
probably carried one of the sex chromosomes (X or Y).
3. Genes Control Biochemical Events
(1930)
George Beadle and Edward Tatum discover through
experiments on neurospora, a bread mold, that genes
are responsible for the production of enzymes.
4. Some Genes Can Jump (1940)

Barbara McClintock discovers transposons- genes
that can jump on a chromosome- while seeking to
explain color variation in corn. Transposons are
segments of DNA that can move to different positions
in the genenome of a single cell.
5. DNA is the Genetic Material
(1928,1944,1952)
Several scientist prove that DNA is the
chemical basis of genetic information. Oswald
Avery proves that DNA carries genetic
information.
6. DNA is a Double Helix (1953)

James Watsons and Francis Crick describe the
DNA molecule. The scientist suggest that the DNA
molecule is made of two chains nucleotides, each
in a helix one going up and other going down.
7. Cracking the Genetic Code ( 1960s)
Marshall Nirenberg leads the team that discovers
the genetic code, showing that a sequence of three
nucleotide bases ( a codon) determines each of the 30
amino acids.
8. RNA Conveys Genetic Information

(1960s)
A number of scientist discover ribonucleic acid or
RNA, a chemical found in the nucleus and cytoplasm of
cells with a structure similar to DNA.
9. Restriction Enzymes ( 1950-
1960s)
Several scientists discover restriction
enzymes- biological scissors that recognize and
cut specific DNA sequence.
10. RNA Splicing ( 1976)

Several groups of scientist discover RNA
splicing. They learn that for cells to produce
protein, DNA is first transcribed into pre-
messenger RNA.
NOTABLE
PERSONALITY
There have been many notable
personalities in the field of medical
genetics. Some of them include:
1.Francis S. Collins
He is known for leading the Human
Genome Project, which mapped and
sequenced all the genes of the human
genome.
2. James D. Watson
Watson, along with Francis Crick and

Rosalind Franklin, is the famous discovering
the structure of DNA, which laid the
foundation for the field of genetics.
3. Rita Levi-Montalcini
She was a nobel laureate who discovered

nerve growth factor (NGF), which has
important implications for genetics and
neurobiology.
4. Mary- Claire King
Known for her groundbreaking work

on the genetic basis of breast cancer,
she identified the BRCA1 gene
associated with inherited cancer
susceptibility.
5. Craig Venter
He played a significant role in
sequencing the human genome and is
known for his contribution to the field
of genomics.
6. Eric Lander
A prominent geneticist and
mathematician, he has been involved
in genomic research and played a key
role in the Human Genome Project.
7. Barbara McClintock
A nobel laureate, she made
pioneering discoveries in the field of
genetics, particularly related to
transposons or jumping genes.
8. Gregor Mendel
Often referred to as the “Father of
Modern Genetics”, Mendel’s work on
pea plants laid the foundation for our
understanding of inheritance and
genetics.
These are just a few of the notable
personalities who have made significant
contributions to the field of medical
genetics.
There are many more researchers, scientist,

and clinicians who have advanced our
understanding of genetics and its
applications in medicine.
THANK YOU!

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* MEDICAL GENETICS

→ is the branch of Medicine that involves the diagnosis

Mathematical approaches were also devised and

* Medical genetics was a late developer, emerging

McKusick in 1993 stated that clinical genetics

The term “genomics” derived from genome

4. Some Genes Can Jump (1940)

6. DNA is a Double Helix (1953)

8. RNA Conveys Genetic Information

10. RNA Splicing ( 1976)

Watson, along with Francis Crick and

She was a nobel laureate who discovered

Known for her groundbreaking work

There are many more researchers, scientist,

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