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History of Genetics Lec 1 2024 Maharaj - Student Version

The document outlines the syllabus for the BIO1202 Genetics and Evolution course taught by Dr. Maharaj, detailing lecture hours, assessment methods, and student responsibilities. It emphasizes the importance of genetics in understanding evolution and includes a glossary of key genetic terms. Topics covered include historical perspectives on genetics, mechanisms of inheritance, and the contributions of notable figures like Darwin and Mendel.

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Karl Heisenberg
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0% found this document useful (0 votes)
12 views62 pages

History of Genetics Lec 1 2024 Maharaj - Student Version

The document outlines the syllabus for the BIO1202 Genetics and Evolution course taught by Dr. Maharaj, detailing lecture hours, assessment methods, and student responsibilities. It emphasizes the importance of genetics in understanding evolution and includes a glossary of key genetic terms. Topics covered include historical perspectives on genetics, mechanisms of inheritance, and the contributions of notable figures like Darwin and Mendel.

Uploaded by

Karl Heisenberg
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
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BIO1202

GENETICS AND EVOLUTION

Dr. Maharaj

PhD Biology
Focal areas: Behaviour, Ecology, Evolution and Systematics

Lecture Hours
Mondays 4:15-6:10 pm Class Zoom Link
Office Hours
Mondays 6:15 – 7:15 pm Class Zoom Link

Or by email appointment
[email protected]
GENETICS AND EVOLUTION
BIO1202
GENETICS & EVOLUTION

1. Why is this course important?…aside from it


being a mandatory core course and you have
to be here.

2. Why is it taught in the first year?

3. What is the link between genetics and


evolution?
Pass Student expectations for Bio
1202 - 2025
1) Pass with As
2) Additional self studies
3) Make it understandable
4) Motivation
5) Have a good relationship with Lecturers
6) Have discussions frequently
7) Make engaging
8) Complete course and assessments on
time
GENETICS AND EVOLUTION
On successful completion of the course, students should be able
to:

• Describe the basic genetic machinery.


• Discuss the principles of genetics.
• Explain Mendelian inheritance in the context of evolution.
• Explain the mechanisms of evolutionary change.
• Explain how population and genetic models can be applied to
real life scenarios.
• Write concisely on a specialized or topical aspect of genetics
and evolution
Methods of Assessment

• In course tests (4 @ 15 % each) = 60%

• Written Assignments (2 @ 10%) = 20%

• Tutorials (7-10 equally weighted) = 20%


Responsibilities
Always be respectful (in person and online) and your Zoom name should be your UG
registered name.

Show up to class/lab on time. Your lab will not be graded if you are absent and do not
provide an acceptable excuse

Check Moodle often

Make-ups for this course will not be given without provision of an acceptable excuse. If
you miss a lab/tutorial/test you must communicate your excuse within five (5) working
days of being absent. Only one make up assessment will be given for this course
and it must be approved by the lecturer.

When you see your graded your lab/tutorial/test or if your grade is missing you have
seven (7) working days to make any clarification/grade changes. Grades will NOT be
changed after the semester has ended.
Responsibilities
When emailing lectures please include your full name and Bio 1200 or 1202 in your Subject

Do not plagiarize/cheat (The UG – does not accept documents with plagiarism levels above 25%).
UG’s plagiarism Policies can be accessed at :
https://www.uog.edu.gy/sites/default/files/documents/Plagiarism%20Policy.pdf

I will not outsource my home work


I will not outsource my home work
I will not outsource my home work
I will not outsource my home work
I will not
Topics for Genetics

1. Historical overview of genetics – Start of Test 1


2. Cells, proteins and genes
3. How genes are inherited
4. Genes: what they are and how they work – End of Test 1
5. Genetic variation and susceptibility to common diseases –
Start of Test 2
6. Gene-based treatment and other therapies for genetic
diseases
7. Testing for genetic disease
8. Screening for genetic disease
9. Ethical issues in genetics – End of Test 2
Topics for Evolution
1.Chemical evolution – Start of Test 3
2.Cellular evolution
3.Erasmus and Charles Darwin, Lamarck, Malthus, and others
4.Mechanisms of evolution - End of Test 3

5.Species formation in nature – Start of Test 4


6.Sexual selection
7.Evolution in the laboratory
8.Evolutionary applications – End of Test 4
Historical overview of Genetics
Lecture 1
Dr. Maharaj
What is genetics?
• Genetics is the study of
heredity i.e. how
characters or traits are
passed from one
generation to the next
or
• The branch of biology
that deals with heredity
and the expression of
inherited traits
https://www.khanacademy.org/sci
ence/biology/gene-expression-
Genetic Glossary central-dogma/central-dogma-
transcription/v/alleles-and-genes

• Gene: The fundamental physical unit


of heredity whose existence can be
confirmed by allelic variants and which
occupies a specific chromosomal
locus. A DNA sequence coding for a
single polypeptide. In general, a gene
is a short section of DNA while DNA-
Deoxyribonucleic acid is a molecule.

• Allele: One of the possible mutational


states of a gene, distinguished from
other alleles by phenotypic effect
(alternative form of a gene)
https://www.toppr.com/guides/biology/difference-between/gene-and-dna/
Genetic Glossary
Genetic Glossary
• Phenotype: The observable properties of an organism that
are genetically controlled.

• Genotype: The specific allelic or genetic constitution of an


organism; often, the allelic composition of one or a limited
number of genes under investigation.

• Character: An observable phenotypic attribute of an


organism.

• Trait: Any detectable phenotypic variation of a particular


inherited character.
Genetic Glossary

• Somatic Cell: All cells other than germ cells or gametes in


an organism.

• Gamete: A specialised reproductive cell with haploid


number of chromosomes.

• Zygote: The diploid cell produced by the fusion of haploid


gametic nuclei.

• Locus: The site or a place on chromosome where a


particular gene is located.
Genetic Glossary

• Dominant Allele: An allele which mask the effect of its


counter part (recessive allele) and manifests into a trait.

• Recessive Allele: An allele that is not expressed in


heterozygous condition. (An allele whose effect is masked
by a dominant allele).
Genetic Glossary
• Homozygous: A condition in which an individual carries
identical alleles at one or more loci.

• Heterozygous: A condition in which an individual carries


different alleles at one or more loci.

• Hemizygous: A condition where a gene is present single in


an otherwise diploid cell, i.e. describes an individual who
has only one member of a chromosome pair or
chromosome segment rather than the usual two. Usually
applied to genes in the X chromosome in hetero-gametic
males or females.
https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/hemizygous
History of genetics
People have known about genetics and inheritance for a
long time.
• children resemble their parents,
• domestication of animals and plants,
• selective breeding for good characteristics,
• genetic diseases
History of Genetics
• During the Golden Age of Greek culture, the writings of the
Hippocratic School of Medicine (500–400 b.c.) and of the
philosopher and naturalist Aristotle (384–322 b.c.) discussed
heredity as it relates to humans.

• The Hippocratic treatise On the Seed argued that active


“humors” in various body parts served as the bearers of
hereditary traits. Drawn from various parts of the male body to
the semen and passed on to offspring, these humors could be
healthy or diseased, with the diseased humors accounting for
the appearance of newborns with congenital disorders or
deformities.
Old Ideas
Hippocrates
• “bricks and mortar” theory of genetics - taxonomical material
consists of physical substances originating from each part of
the body and is concentrated in the male semen, which
develops into a human within the womb.

• He also believed that physical characteristics are “acquired.”


For example, a champion weight lifter who develops large
biceps through training has “big bicep” parts, which would be
passed to the lifter’s offspring through his sperm and result in a
big biceped child.

http://psych.colorado.edu/~carey/hgss2/pdfiles/Ch%2001%20History%20of%20Genetics.pdf
Better developed old ideas
Aristotle

Challenged Hippocrates ideas by noting that handicapped


individuals with missing limbs could go on to produce children with
normal limbs.

He also criticized the bricks and mortar theory by explaining that


people can pass on traits that appear later with age. For example,
a man with a full head of hair may conceive a child and then
experience baldness years later.

http://psych.colorado.edu/~carey/hgss2/pdfiles/Ch%2001%20History%20of%20Genetics.pdf
History of Genetics
• Aristotle extended Hippocrates’ thinking and proposed that the male semen
contained a “vital heat” with the capacity to produce offspring of the same
“form” (i.e., basic structure and capacities) as the parent.
• Aristotle believed that this heat cooked and shaped the menstrual blood
produced by the female, which was the “physical substance” that gave rise
to an offspring.
• The embryo developed not because it already contained the parts of an
adult in miniature form (as some Hippocratics had thought) but because of
the shaping power of the vital heat.

• Although the ideas of Hippocrates and Aristotle sound primitive and


naive today
Old Ideas

Despite knowing about inheritance in general, a


number of incorrect ideas had to be generated
and overcome before modern genetics could arise.

Although scientists have long known that an offspring’s


traits come from its parents, the findings of Darwin and
Mendel have really allowed scientists to begin to
understand how and why genetic variation occurs.
1600–1850: The Dawn of Modern Biology

• William Harvey (1600s) proposed the


theory of epigenesis, which states that
an organism develops from the
fertilized embryo by a succession of
developmental events that eventually
transform the embryo into an adult.
• The theory of epigenesis directly
conflicted with the theory of
preformation, which stated that the
sperm or the fertilized egg contains a
complete miniature adult, called a
homunculus. Homunculus, a sperm
containing a miniature adult,
perfect in proportion and
fully formed.
1600–1850: The Dawn of Modern
Biology
• Around 1830, Matthias Schleiden and Theodor Schwann
proposed the cell theory, stating that all organisms are
composed of basic structural units called cells derived from
preexisting cells.

• In the mid-1800s the revolutionary work of Charles Darwin and


Gregor Mendel set the stage for the rapid development of
genetics in the twentieth and twenty-first centuries.
Mid 1800’s Discoveries
Three major events in the mid-1800’s led directly to the
development of modern genetics.

1. 1859: Charles Darwin publishes The Origin of


Species, which describes the theory of evolution by
natural selection. This theory requires heredity to
work.

2. 1866: Gregor Mendel publishes Experiments in


Plant Hybridization, which lays out the basic theory of
genetics. It is widely ignored until 1900.

3. 1871: Friedrich Miescher isolates “nucleic acid”


from pus cells.
Darwin
• Charles Darwin developed his theory of natural selection, the
major mechanism of evolution.

• Charles Darwin, published The Origin of Species in 1859,


describing his ideas about evolution
Natural selection states that genetic differences can make
individuals more or less suited for their environment. Those
who are better suited survive go on to produce offspring, making
the favorable traits characteristic of the population over time;
those species with less favorable traits face extinction.

http://dujs.dartmouth.edu/2013/05/genetics-past-present-and-future/#.WmYGY6inE2z
Which bird will survive?
Darwin, however, lacked an
understanding of the genetic basis of
variation and inheritance, a gap that left
his theory open to reasonable criticism
well into the twentieth century.

Shortly after Darwin published his book,


Gregor Johann Mendel published a
paper in 1866 showing how traits were
passed from generation to generation in
pea plants and offering a general model
of how traits are inherited.

His research was little known until it


was partially duplicated and brought to
light by Carl Correns, Hugo de Vries,
and Erich Tschermak around 1900.
Mendel
Father of Genetics

• Through his work on pea plants, he discovered the


fundamental laws of inheritance. He deduced that
genes come in pairs and are inherited as distinct
units, one from each parent. Mendel tracked the
segregation of parental genes and their appearance
in the offspring as dominant or recessive traits.

• He recognized the mathematical patterns of


inheritance from one generation to the next.
History of Genetics

• By the early part of the twentieth century, it became clear that heredity
and development were dependent on genetic information residing in genes
contained in chromosomes, which were then contributed to each individual
by gametes—the so-called chromosomal theory of inheritance.

• The gap in Darwin’s theory was closed, and Mendel’s research has
continued to serve as the foundation of genetics
Miescher & DNA
In 1866 Ernst Haeckel proposes the idea that hereditary material
resides in the nucleus. However, Miescher experimented on
human pus from infections and isolated a new molecule he called
nuclein because it is from the cell nucleus. Today we know it as
deoxyribonucleic acid (DNA)

He determined that nuclein was made up of hydrogen, oxygen,


nitrogen and phosphorus and there was a unique ratio of
phosphorus to nitrogen and it was different from protein.

It would be years before the role of nucleic acids were


recognized. Miescher, himself, believed that proteins were the
molecules of heredity.
https://www.ndsu.edu/pubweb/~mcclean/plsc411/History-of-Genetics-and-Genomics-narrative-and-overheads.pdf
Nucleic acids (DNA and RNA)

• Consists of carbon, hydrogen, oxygen, nitrogen and phosphorus

• Functional group – Phosphate

• Subunits- Nucleotides
- Ribonucleotides
https://youtu.be/FNynz6Q12Bw
- Deoxyribonucleotides
Later on…
• 1900 Carl Correns, Hugo de Vries and Erich von Tschermak
rediscovered Mendel’s work independently.

• 1900 Hugo de Vries - The term mutation is used to describe the


apparently spontaneous appearance of new traits in evening
primrose (Oenothera).

• 1902 William Bateson - The terms genetics, homozygote,


heterozygote, epistasis, F1, F2, and allelomorph (shortened
later to allele) were first used.

• 1903 Wilhelm Johannsen - The important concepts of


phenotype, genotype, and selection were elucidated. The terms
were actually coined later (1909).
Later on…
The Chromosome Theory of Inheritance:
Uniting Mendel and Meiosis

• Early in the twentieth century, Walter Sutton and Theodor


Boveri independently noted that the behavior of chromosomes
during meiosis is identical to the behavior of genes during
gamete formation described by Mendel.

• 1902 Walter Sutton and Theodor Boveri - Within a specific


species, each chromosome is described as having unique
physical characteristics. It is shown that chromosomes occur in
pairs, one parent contributes each member of the pair, and the
pairs separate during meiosis. Sutton suggests chromosomes
are a physical manifestation on which the unit of heredity
resides. This came to be known as the chromosomal theory of
inheritance.
Chromosome theory of inheritance
• Identifies chromosomes as the carriers of genetic material (genes).

• Sutton and Boveri each proposed that genes are carried on chromosomes. They
independently formulated the chromosome theory of inheritance, which states that
inherited traits are controlled by genes residing on chromosomes faithfully
transmitted through gametes, maintaining genetic continuity from generation to
generation.

• It states simply that chromosomes, seen in all dividing cells and pass from one
generation to the next, are the basis for all genetic inheritance and are associated in
paternal-maternal pairings.

Therefore it explains the mechanism underlying the laws of Mendelian inheritance by


identifying chromosomes with the paired allele required by Mendel's laws.

https://www.nature.com/scitable/definition/chromosome-theory-of-inheritance-chromosome-theory-chromosome-127
Chromosome theory of inheritance

https://www.bioexplore
r.net/chromosome-
theory-of-
inheritance.html/
Later later on…
Genetics progressed from Mendel to DNA in less
than a century
• 1909 Wilhelm Johannsen while studying seed size in common bean, it becomes
apparent that the outward appearance of the individual and its genetic makeup must
be clearly distinguished. The terms phenotype and genotype and coined for this
purpose. The term gene is also used for the first time.

• 1910 Thomas Hunt Morgan - The first demonstration of sex linkage in Drosophila is
published. This suggests genes reside on chromosomes.

• In 1944, Oswald Avery, Colin MacLeod, and Maclyn McCarty, researchers at the
Rockefeller Institute in New York, published experiments showing that DNA was the
carrier of genetic information in bacteria.

• DNA carries genetic information, along with other research over the next few years,
provided solid proof that DNA, not protein, is the genetic material, setting the stage
for work to establish the structure of DNA.
Soon to be modern day…
Later in the twentieth and early 21st century,
genetics advances were geared toward the
molecular level, and the dawn of the information
age brought about modern genomics science as
it is known today.
Discovery of the Double Helix launched the
Era of Molecular Genetics
Rosalind Franklin - X-ray diffraction images of DNA.- discovered on her own that DNA
has a double helix structure. The Structure of DNA and RNA One of the great
discoveries of the twentieth century was made in 1953 by James Watson and Francis
Crick, who described the structure of DNA through mathematical modelling served to
create a definitive physical model of DNA. DNA is a long, ladder-like macromolecule
that twists to form a double helix Along with Maurice Wilkins, Watson and Crick were
awarded a Nobel Prize in 1962 for their work on the structure of DNA.

DNA STRUCTURE: two


sugar phosphate backbones
on the outside with hydrogen-
bonded base pairs forming
the core.
RNA

RNA, is chemically similar to


DNA but contains a different
sugar (ribose rather than
deoxyribose) in its
nucleotides and contains the
nitrogenous base uracil in
place of thymine. RNA,
however, is generally a
single-stranded molecule.
RNA
Gene Expression: From DNA to Phenotype

In most cases, proteins are the end


products of gene expression.

The diversity of proteins and the biological


functions they perform—the diversity of life
itself—arises from the fact that proteins are
made from combinations of 20 different
amino acids.

Proteins are molecules with the potential


for enormous structural diversity and serve
as the mainstay of biological systems.
Development of Recombinant DNA technology began
the Era of DNA Cloning

The era of recombinant DNA began in the early 1970s, when researchers
discovered that bacterial proteins called restriction endonucleases
• The field of genetic engineering, or modifying the DNA of
organisms, emerged in 1972 when the first altered molecule of
DNA was constructed as “recombinant DNA (rDNA) - molecules
are DNA molecules formed by laboratory methods of genetic recombination
to bring together genetic material from multiple sources,
creating sequences that would not otherwise be found in the genome.” In
the following year, a functioning E.coli bacteriophage cell was
produced using such recombinant DNA .

• In 1977, the Sanger group developed techniques to sequence,


or decode DNA and successfully used their methods to publish
the entire genetic code of a particular strand of E. coli. In
conjunction with technological advances of the era, the
biomedical technique of polymerase chain reaction (PCR) was
developed, significantly expediting the process of DNA
sequencing and leading to the development of automated DNA
sequencers in 1986.
Present day genetics
The progression of DNA sequencing technology after publication of the
genomes of, E. coli, C. elegans, S. cerevisiae, Drosophila, H. influenza and
Arabidopsis led to the launch of the Human Genome Project in 1990.

Funded by the US government, in collaboration with the National Institute of


Health (NIH), the Department of Energy, and international partners aiming to
sequence all three billion letters of the human genome, or genetic code.

International Human Genome Sequencing Consortium Celera Corp. The


human genome sequence (2900 Mbp) is published. It is estimated that the
genome contains between 35,000 and 40,000 genes (2001). Later (2002)
estimates place the number at 30,000 genes.
Due to the extent of genetic knowledge acquired over time, it is
now recognized that the adaptation of genetic code to the
environment is the force behind evolution.

However, these alterations occur gradually over the course of


many generations. Consequently each individual carries around
several potentially deleterious genes, related to their ethnic
background and ancestral environment
According to the NIH, “The Human Genome Project’s goal was
to provide researchers with powerful tools to understand the
genetic factors in human disease, paving the way for new
strategies for their diagnosis, treatment and prevention”

Because genetics enables professionals to identify differences in


genes and their additive effects on patients’ health, medical
treatments can now be tailored to more effectively complement
an individual’s unique genetic code.

A timeline showing the development of genetics from Gregor Mendel’s work on pea plants to the current era of
genomics
Modern knowledge of genetics allows for new types of health care
involving genetic engineering, or the alteration of genetic material.

Because genetic engineers can insert and remove portions of


DNA in organisms using enzymes and advanced technologies,
new types of more efficient plants and animals are being created,
and chemicals such as insulin, human growth hormone, and
interferon are currently being produced for human genes in
bacteria for health care benefits.

https://www.ndsu.edu/pubweb/~mcclean/plsc411/History-of-Genetics-and-Genomics-narrative-and-overheads.pdf
Genomics, Proteomics, and Bioinformatics
are new and expanding fields
• The use of recombinant DNA technology to create genomic
libraries prompted scientists to consider sequencing all the
clones in a library to derive the nucleotide sequence of an
organism’s genome. This sequence information would be used
to identify each gene in the genome and establish its function.

• The Human Genome Project, began in 1990 as an international


effort to sequence the human genome. By 2003, the publicly
funded Human Genome Project and a private, industry-funded
genome project completed sequencing of the gene-containing
portion of the genome.
Genomics, Proteomics, and Bioinformatics
are new and expanding fields

• Genomics (the study of genomes), studies the structure, function, and


evolution of genes and genomes.
• Proteomics, identifies the set of proteins present in a cell under a given set
of conditions, and studies their functions and interactions.
• Bioinformatics, a specialized subfield of information technology was
created to develop hardware and software for processing and storing
nucleotide and protein data.

Geneticists and other biologists now use information in databases containing


nucleic acid sequences, protein sequences, and gene-interaction networks to
answer experimental questions in a matter of minutes instead of months and
years.
Epigenetics -
• Epigenetics (also sometimes called epigenomics) is a field of study focused
on changes in DNA that do not involve alterations to the underlying
sequence.
• The DNA letters and the proteins that interact with DNA can have chemical
modifications that change the degrees to which genes are turned on and off.
• Certain epigenetic modifications may be passed on from parent cell to
daughter cell during cell division or from one generation to the next.
• The collection of all epigenetic changes in a genome is called an
epigenome.

https://www.genome.gov/genetics-glossary/Epigenetics
https://pmc.ncbi.nlm.nih.gov/articles/PMC3941222/
Genome-wide association
• Advances in genome-wide association studies (GWAS) — which have
used microarray technology for SNP genotyping.
• SNP genotyping is the measurement of genetic variations of single
nucleotide polymorphisms between members of a species.
• GWAS test hundreds of thousands of genetic variants across many
genomes to find those statistically associated with a specific trait or disease.
• GWAS results have a range of applications, such as gaining insight into a
phenotype’s underlying biology, estimating its heritability, calculating
genetic correlations, making clinical risk predictions, informing drug
development programmes and inferring potential causal relationships
between risk factors and health outcomes.

https://www.nature.com/articles/s43586-021-00056-9
a | Data can be collected from study cohorts or
available genetic and phenotypic information can
be used from biobanks or repositories.
Confounders need to be carefully considered and
recruitment strategies must not introduce biases
such as collider bias. b | Genotypic data can be
collected using microarrays to capture common
variants, or next-generation sequencing methods
for whole-genome sequencing (WGS) or whole-
exome sequencing (WES). c | Quality control
includes steps at the wet-laboratory stage, such as
genotype calling and DNA switches, and dry-
laboratory stages on called genotypes, such as
deletion of bad single-nucleotide polymorphisms
(SNPs) and individuals, detection of population
strata in the sample and calculation of principle
components. Figure depicts clustering of individuals
according to genetic substrata. d | Genotypic data
can be phased, and untyped genotypes imputed
using information from matched reference
populations from repositories such as 1000
Genomes Project or TopMed. In this example,
genotypes of SNP1 and SNP3 are imputed based
on the directly assayed genotypes of other
SNPs. e | Genetic association tests are run for each
genetic variant, using an appropriate model (for
example, additive, non-additive, linear or logistic
regression). Confounders are corrected for,
including population strata, and multiple testing
needs to be controlled. Output is inspected for
unusual patterns and summary statistics are
generated. f | Results from multiple smaller cohorts
are combined using standardized statistical
pipelines. g | Results can be replicated using
internal replication or external replication in an
independent cohort. For external replication, the
independent cohort must be ancestrally matched
and not share individuals or family members with
the discovery cohort. h | In silico analysis of
genome-wide association studies (GWAS), using
information from external resources. This can
include in silico fine-mapping, SNP to gene
mapping, gene to function mapping, pathway
analysis, genetic correlation analysis, Mendelian
randomization and polygenic risk prediction. After
GWAS, functional hypotheses can be tested using
experimental techniques such as CRISPR or
https://www.nature.com/articles/s43586-021-00056-9 massively parallel reporter assays, or results can
be validated in a human trait/disease model.
Reprogramming Cells
• The most exciting advances have been in the area of cellular
reprogramming with defined transcription factors.
• Cell reprograming use a step-by-process to change the identity of cells by
returning adult cells to a stem cell-like state, then differentiating them into a
different cell type. Stem cells can become almost any kind of cell in the
body.
• In 2006 Yamanaka and colleagues showed that transient expression of four
transcription factors could reprogramme somatic cells to a pluripotent
embryonic stem (ES) cell-like state.
• Before this discovery, it was evident that the nuclei of differentiated cells
could be reprogrammed when transferred into an oocyte, but the nature of
the reprogramming factors was a mystery.
• The discovery that a few key transcription factors are sufficient to
reprogramme the vertebrate genome has profoundly affected many fields of
biomedical research and the quest for regenerative medicine.

https://iscrm.uw.edu/what-is-cell-
reprogramming/#:~:text=What%20is%20Cell%20Reprogramming%3F,of%20cell%20in%20the%20body.
Model
Organisms

Model genetic
organisms: used
for the study of
basic biological
processes.

https://biology.uiowa.edu/model-organisms
Model Organisms

https://www.researchgate.net/publication/264146124_Model_Systems_in_Radiation_Biology_Implication_for_Preclinical_Study_of_Radiotherapy
Genetics & Society
• As a society, we are grappling with a host of
sensitive genetics-related issues:
• concerns about prenatal testing
• genetic discrimination
• ownership of genes
• access to and safety of gene therapy
• genetic privacy
Mandatory genetic testing as part of premarital
screening for Emiratis from January 2025

• The Ministry of Health and Prevention (MoHAP) in the United Arab Emirates (UAE)
has announced that mandatory genetic testing will be introduced as part of the
premarital screening programme for all Emiratis planning to marry, starting in January
2025.
• The decision, approved by the Emirates Genome Council, aims to safeguard the
health of future generations and ensure long-term wellness for Emirati families.
• The testing will cover 570 genes associated with over 840 medical conditions, helping
couples assess their risk of having children with genetic diseases. The initiative is
part of the National Genome Strategy, which aims to create an integrated national
genetic database to identify genetic diseases among Emiratis and facilitate early
medical intervention.
• “This preventive measure safeguards community members from hereditary diseases
and allows couples to undergo genetic testing to determine if they carry shared
genetic mutations that could be passed on to their offspring, potentially causing
preventable genetic diseases. Common genetic mutations among couples can lead to
conditions such as vision and hearing loss, blood clotting disorders, developmental
delays, organ failure, hormonal imbalances, and severe seizures,” she explained.

https://www.wam.ae/en/article/b625ku2-genetic-testing-mandatory-for-premarital
END OF LECTURE 1

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