01051101: Introduction to Biotechnology

Biotechnology in Medical Applications

Asst. Prof. Paiboon Tunsagool

Room: 5215, 2nd floor, AI-5 building
Email: [email protected]
 Introduction to Biotechnology in Medicine 2

Definition

• Medical biotechnology is the use of

living cells, biological molecules, and
cellular processes to develop
technologies and products aimed at
improving human health.

• This field integrates biology,

chemistry, genetics, and engineering
to create medical tools, diagnostics,
therapies, and vaccines.
https://www.pw.live/exams/neet/biotechnology-and-its-applications/
 Introduction to Biotechnology in Medicine 3

Key Areas of Medical Biotechnology

1.Pharmaceutical Development:
▪ Production of therapeutic proteins (e.g., insulin, human growth
hormone).
▪ Development of monoclonal antibodies for diseases like cancer
and autoimmune disorders.
2.Gene Therapy:
▪ Techniques for correcting defective genes responsible for disease.
▪ Use of viral vectors (e.g., adenovirus, lentivirus) for gene delivery.
3.Tissue Engineering and Regenerative Medicine:
▪ Creating artificial organs and tissues for transplantation.
▪ Use of stem cells for regenerating damaged tissues.
4.Vaccines:
▪ Development of recombinant vaccines (e.g., hepatitis B vaccine).
▪ DNA and mRNA vaccines (e.g., COVID-19 vaccines).
5.Diagnostics:
▪ PCR-based tests for infectious diseases and genetic disorders.
▪ CRISPR technology for rapid and accurate disease detection.
 Key Historical Milestones in Medical Biotechnology 4

Discovery of DNA Structure (1953)

•Scientists: James Watson & Francis Crick, with
contributions from Rosalind Franklin and Maurice
Wilkins

•Key Insight: The identification of the double-

helix structure of DNA.

•Impact: Understanding DNA's structure revealed

the mechanism of genetic inheritance and
replication. This breakthrough laid the foundation
for modern genetics, molecular biology, and
biotechnology. It opened the door to
manipulating genes, leading to innovations in
https://www.nature.com/scitable/topicpage/discovery-of-dna-structure-
diagnostics, therapies, and genetic engineering. and-function-watson-397/
 Key Historical Milestones in Medical Biotechnology 5

Recombinant DNA Technology (1970s)

•Key Figures: Paul Berg, Herbert Boyer, and
Stanley Cohen

•Technology: Combining DNA from different

organisms. Scientists can cut and splice genes
using enzymes to create recombinant DNA
molecules.

•Impact: Enabled the production of therapeutic

proteins like insulin and growth hormone in
microorganisms. It revolutionized drug
development, agriculture (GMO crops), and the
treatment of genetic diseases. This technology
https://www.genome.gov/genetics-glossary/Restriction-Enzyme
marks the birth of the biotechnology industry.
 Key Historical Milestones in Medical Biotechnology 6

Human Genome Project (1990-2003)

•Goal: To sequence the entire human genome,

identifying all the genes in human DNA.

•Key Leaders: International collaboration led by

scientists like Francis Collins and Craig Venter.

•Impact: The project mapped over 20,000 human

genes, providing insight into genetic disorders,
cancer, and personalized medicine. This data
enables the development of gene-targeted
therapies, advancing precision medicine and the https://allofus.nih.gov/news-events/announcements/research-roundup-
understanding of complex diseases. human-genome-project-all-us-dna
 Key Techniques in Medical Biotechnology 7

Genetic engineering
Definition: Genetic engineering involves directly
manipulating an organism’s genome using
biotechnology. The process allows the alteration
of genetic material to achieve desired traits or
produce specific proteins.

Applications:
•Production of insulin, growth hormones, and
other therapeutic proteins.
•Development of genetically modified organisms
(GMOs) for research, medicine, and agriculture.
•Gene therapy to correct defective genes
responsible for disease.
https://www.britannica.com/science/genetically-modified-organism
 Key Techniques in Medical Biotechnology 8

Recombinant DNA technology

Definition: This technique involves combining DNA
from two different organisms to produce new genetic
combinations that are useful in science, medicine, and
industry.

Key Steps:
1. Isolation of the gene of interest.
2. Insertion of the gene into a vector (e.g., plasmid).
3. Transformation of the vector into host cells (e.g.,
bacteria).
4. Expression of the gene to produce the desired
protein.

Applications:
• Production of monoclonal antibodies and vaccines.
• Development of transgenic animals and plants.
• Synthesis of therapeutic proteins like insulin and
erythropoietin.
 Key Techniques in Medical Biotechnology 9

Polymerase Chain Reaction (PCR)

Definition: PCR is a technique used to amplify small segments of DNA, generating millions of copies of a specific
DNA sequence in a short time.
Applications:
Key Steps:
•Diagnostic tests for genetic diseases.
1.Denaturation: Heating the DNA to separate the strands.
•Detection of pathogens (e.g., HIV, COVID-19).
2.Annealing: Binding of primers to each DNA strand.
3.Extension: DNA polymerase extends the DNA strands •Forensic science for DNA fingerprinting.
by adding nucleotides. •Genetic research and sequencing.

https://ars.els-cdn.com/content/image/1-s2.0-S1383576914001275-fx1_lrg.jpg
 Key Techniques in Medical Biotechnology 10

CRISPR-Cas9
Definition: Clustered regularly interspaced palindromic repeats
(CRISPR)/Cas9 is a groundbreaking genome-editing technology that
allows scientists to precisely cut and modify DNA at specific
locations within the genome.

Mechanism:
•The Cas9 enzyme acts as molecular scissors that cut DNA at a
target sequence identified by a guide RNA.
•The DNA is then repaired by the cell’s natural repair mechanisms,
either by adding or deleting segments of DNA.

Applications:
•Development of gene therapies for genetic disorders like cystic
fibrosis and sickle cell anemia.
•Agricultural improvements through the creation of disease-
resistant crops.
https://www.labiotech.eu/in-depth/crispr-cas9-review-gene-editing-tool/
•Research in cancer therapy by editing immune cells to target
tumors.
 Ethical Considerations 11

Genetic Manipulation
1. Human Genome Editing
•Potential for editing human genes, especially germline editing.
•Raises concerns over:
• "Designer babies"
• Social inequality
• Unintended biological consequences
•International community urges caution and regulation.

2. Environmental Impact of GMOs

•Use in agriculture presents risks:
• Biodiversity loss
• Long-term effects on ecosystems
• Environmental risks still debated https://thalassaemia.org.cy/news/biotech-companies-
issue-first-joint-declaration-on-human-gene-editing/

3. Consent and Accessibility

•Advanced treatments may only be accessible to the wealthy.
•Raises fairness and equity issues.
•Who benefits from genetic technologies?
 Ethical Considerations 12

Cloning
1. Reproductive Cloning
•Human cloning raises issues of identity and individuality.
•Ethical concerns about eugenics and exploitation.

2. Animal Cloning
•Used in research, agriculture, and conservation.
•Criticism over animal welfare, cloning-related diseases,
and commercialization.

3. Therapeutic Cloning
•Promising for regenerative medicine (tissues/organs).
•Controversy over the destruction of human embryos https://www.britannica.com/science/cloning

and their moral status.

 Therapeutics 13

Recombinant DNA Technology for Therapeutic Proteins

Recombinant Insulin: Humulin
Humulin, the first human insulin produced using recombinant DNA technology,
was developed by Genentech and Eli Lilly and approved by the FDA in 1982.

Insulin Production Process

1.Gene Isolation: Human insulin gene isolated.
2.Vector Insertion: Gene inserted into a plasmid vector (e.g., E. coli).
3.Transformation: Plasmid introduced into bacterial cells.
4.Expression: Bacteria produce insulin proteins.
5.Purification: Insulin extracted, purified for medical use.

Advantages
•Human Compatibility: Matches human insulin, reducing immune reactions.
•Scalability: Mass production in bioreactors using bacteria/yeast. https://humulin.lilly.com/insulin-options

•Consistency: Controlled production ensures quality.

 Therapeutics 14

Human Growth Hormone (hGH)

Recombinant DNA Technology Overview
1. Production of Human Growth Hormone (hGH)
•Gene Insertion: The human GH1 gene is inserted into bacterial or yeast expression systems
(e.g., E. coli, S. cerevisiae).
•Transformation: Host cells produce and purify hGH, ensuring high-quality, bioactive protein.
•Benefits: Enables consistent, large-scale production, preserving structural integrity and
biological activity.

2. Production Process
•Gene Cloning: GH1 gene cloned into a plasmid vector and introduced into a host.
•Protein Expression: Inducible promoters optimize hGH production.
•Purification: hGH extracted and purified using chromatographic techniques for clinical use.

3. Medical Applications of Recombinant hGH

•Growth Hormone Deficiency (GHD):
• Primary use in children and adults with insufficient natural growth hormone.
https://www.health.harvard.edu/mens-
• Restores normal growth in children, helping achieve near-normal height. health/does-human-growth-hormone-
• In adults, rhGH reduces fat mass, improves muscle mass, and boosts energy levels. slow-the-aging-process
 Therapeutics 15

Monoclonal Antibodies (mAbs)

Definition: Laboratory-produced molecules that mimic the immune system’s
ability to combat pathogens; used therapeutically in various diseases.
Recombinant mAb Production Steps:
1. Antigen Identification: Target antigen (e.g., cancer cell surface protein)
identified for binding.
2. B-cell Fusion (Hybridoma Technology):
• Inject antigen into mice to produce antibodies.
• Fuse B cells with immortal myeloma cells to create hybridomas for
continuous antibody production.
3. Recombinant DNA Technology:
• Clone antibody genes into vectors.
• Introduce into mammalian cells (e.g., CHO cells) for large-scale production.
4. Antibody Humanization: Replace mouse antibody regions with human
sequences to minimize immune rejection, retaining the antigen-binding site. https://www.cancer.gov/about-
5. Production and Purification: cancer/treatment/types/immunotherap
y/monoclonal-antibodies
• Grow recombinant cells in bioreactors.
• Purify mAbs via affinity chromatography.
6. Clinical Use:
• Formulated for therapeutic use in treating diseases such as cancer and
autoimmune conditions.
 Therapeutics 16

Monoclonal Antibodies (mAbs)

Examples of Therapeutic mAbs
1.Rituximab:
• Target: CD20, a protein on the surface of B cells
• Use: Treatment of non-Hodgkin’s lymphoma, chronic lymphocytic
leukemia, and autoimmune diseases (e.g., rheumatoid arthritis).
• Mechanism: Rituximab binds to CD20 on B cells, leading to cell death
through immune-mediated mechanisms.
https://medical.in.th/devblog/%E0%B8%A3%E0%B8%B9%E0%B9%89%E0%B8%88%E0%B8%B1%

2.Trastuzumab (Herceptin): E0%B8%81%E0%B8%81%E0%B8%B1%E0%B8%9A%E0%B8%A2%E0%B8%B2-rituximab-

%E0%B8%A3%E0%B8%B4%E0%B8%97%E0%B8%B9%E0%B8%8B%E0%B8%B4%E0%B9%81%E0%
B8%A1%E0%B8%9A/
• Target: HER2 receptor, a protein that promotes the growth of cancer
cells
• Use: Treatment of HER2-positive breast cancer and gastric cancer.
• Mechanism: Trastuzumab blocks the HER2 receptor, inhibiting the
growth of cancer cells and triggering an immune response that kills
the cancer cells.

https://www.cancerhealth.com/drug/herceptin-trastuzumab
 Therapeutics 17

Humanized and Fully Human Antibodies

Humanized Antibodies

• Initially, antibodies were derived from mouse

models, leading to potential rejection by the
human immune system.

• Humanization: Process of modifying mouse-

derived antibodies to be more similar to human
antibodies to reduce immune reactions.

• How it's done: Grafting the antigen-binding sites

(Complementarity Determining Regions: CDRs)
from mouse antibodies onto human antibody
frameworks. https://www.proteogenix.science/scientific-corner/antibody-
production/humanized-antibody-therapeutic-applications/
 Therapeutics 18

Humanized and Fully Human Antibodies

Fully Human Antibodies – XenoMouse Technology

•XenoMouse: A genetically engineered mouse developed

to produce fully human antibodies.
• Mouse immune system replaced by human
immunoglobulin genes, allowing the production of
completely human antibodies.
• Avoids the limitations of traditional mouse
antibodies, lowering the risk of immunogenicity.

•Key Benefits:
• High-affinity, human-compatible antibodies.
• Increased safety and efficacy for long-term
therapeutic use.
https://europepmc.org/article/pmc/pmc7255167
 Therapeutics 19

Humanized and Fully Human Antibodies

Therapeutic Uses of Humanized and Fully Human Antibodies

•Cancer Treatments:
• Used in targeted therapies to attack cancer cells specifically.
• Examples: Trastuzumab (Herceptin) for HER2-positive breast
cancer, Rituximab for non-Hodgkin lymphoma.

•Autoimmune Diseases:
• Modulate immune responses to prevent tissue damage.
• Examples: Adalimumab (Humira) for rheumatoid arthritis,
Tocilizumab for systemic inflammatory diseases.

https://southdelhipharma.com/product/humira-adalimumab/
 Therapeutics 20

Gene Therapy
Overview of Gene Therapy Approaches
Definition: Gene therapy involves the introduction, removal,
or alteration of genetic material within a person's cells to
treat or prevent disease.
Types of Gene Therapy:
• Somatic Gene Therapy: Targets non-reproductive cells,
aiming to treat diseases without affecting future
generations.
• Germline Gene Therapy: Modifies reproductive cells,
potentially affecting offspring (currently not widely
practiced due to ethical concerns).
Mechanisms:
• Gene Addition: Introducing a healthy copy of a gene to
https://old-ib.bioninja.com.au/standard-level/topic-3-genetics/35-
compensate for a nonfunctional gene. genetic-modification-and/gene-therapy.html
• Gene Editing: Techniques like CRISPR-Cas9 to correct
mutations at specific locations in the genome.
• Gene Silencing: Using RNA interference (RNAi) to inhibit the
expression of a disease-causing gene.
 Therapeutics 21

Gene Therapy
Examples of Gene Therapy
•CAR-T Cell Therapy:
• Description: A type of immunotherapy that modifies a
patient’s T cells to express chimeric antigen receptors
(CARs) that target cancer cells.
• Applications: Approved for certain types of leukemia and
lymphomas.
• Mechanism: T cells are collected from the patient,
genetically engineered to express CARs, and then infused
back to target and kill cancer cells.
•SMA Treatment (Zolgensma):
• Description: A gene therapy for spinal muscular atrophy
(SMA), a genetic disorder affecting motor neurons.
• Mechanism: Delivers a functional copy of the SMN1
gene, crucial for motor neuron health.
• Impact: Administered as a one-time infusion, it can https://bookinghealth.com/blog/diagnoses-and-treatment/diagnosis-
significantly improve survival and motor function in and-treatment/603864-car-t-cell-therapy-for-cancer.html

infants with SMA.

 Therapeutics 22

Viral Vectors in Gene Therapy

Definition: Modified viruses delivering genetic material into
cells for therapeutic purposes.
Types of Viral Vectors
1. Adeno-Associated Virus (AAV)
• Characteristics: Non-pathogenic; integrates into the host
genome for stable long-term expression.
• Applications: Treats inherited retinal diseases, hemophilia,
and spinal muscular atrophy.
2. Lentiviral Vectors
• Characteristics: HIV-derived; transduces both dividing and
non-dividing cells; enables stable transgene integration.
• Applications: Gene therapy for blood disorders (e.g., sickle
cell disease) and cancers.
3. Retroviral Vectors
• Characteristics: Integrate into the host genome; target
primarily dividing cells; less efficient in non-dividing cells.
• Applications: Early gene therapy trials for cancers and https://www.researchgate.net/publication/350903437_Current_update_on_SARS-CoV-

genetic disorders. 2_vaccine_development_with_a_special_emphasis_on_gene_therapy_viral_vector_design_and_constructi

on_for_vaccination
 Therapeutics 23

CRISPR-Cas9 in Therapeutics
Overview of Gene-Editing Technology
•Definition: CRISPR-Cas9 is a revolutionary gene-editing
technology derived from a bacterial defense mechanism.
•Components:
• CRISPR: Clustered Regularly Interspaced Short
Palindromic Repeats—short sequences of DNA that
store information about past viral infections.
• Cas9: CRISPR-associated protein 9—an enzyme that acts
as molecular scissors to cut DNA at specific locations.
•Mechanism:
• The technology uses a guide RNA (gRNA) to direct the
Cas9 enzyme to a specific sequence of DNA.
• Cas9 makes a double-strand break in the DNA, allowing
for gene modification, insertion, or deletion.
•Advantages:
• High precision and efficiency in targeting genes.
• Potentially lower costs compared to traditional gene- https://labassociates.com/crispr-a-gene-editing-tool

editing methods.
 Therapeutics 24

CRISPR-Cas9 in Therapeutics
Applications in Curing Genetic Disorders
•Gene Therapy:
• CRISPR-Cas9 can correct mutations in genes responsible for
genetic disorders, such as:
• Sickle Cell Disease: Editing the beta-globin gene to
produce healthy hemoglobin.
• Cystic Fibrosis: Targeting the CFTR gene to correct
mutations causing the disease.
•Cancer Treatment:
• Targeting oncogenes and tumor suppressor genes to inhibit
cancer cell growth.
• Engineering immune cells (CAR-T therapy) to recognize and
destroy cancer cells.
•Infectious Diseases:
• Developing treatments for viral infections (e.g., HIV) by
targeting viral DNA integration sites in the host genome. https://pubs.acs.org/doi/10.1021/cen-09441-notw1

•Limitations and Ethical Considerations:

• Off-target effects: Potential unintended edits to the genome.
• Ethical concerns: The implications of germline editing and
long-term effects on the human gene pool.
 Therapeutics 25

RNA-based Therapies
Introduction to RNA-based Therapies
•Definition: Therapeutic approaches utilizing RNA molecules to regulate gene
expression or combat diseases.
•Importance: Key role in treating genetic disorders, viral infections, and cancers.

RNA Interference (RNAi)

•What is RNAi?
• A natural cellular mechanism that silences gene expression.
• Utilizes small interfering RNAs (siRNAs) or microRNAs (miRNAs).
•Mechanism:
• siRNAs bind to complementary mRNA, leading to degradation.
• Inhibits protein translation.
•Applications:
• Potential treatment for viral infections, cancers, and genetic disorders.
• Example: Treating diseases like Huntington’s and certain types of cancer.

https://www.alnylam.com/our-science/the-science-of-rnai
 Therapeutics 26

RNA-based Therapies
Antisense Oligonucleotides (ASOs)
•What are ASOs?
• Short, synthetic strands of
DNA or RNA designed to bind
to specific mRNA sequences.
•Mechanism:
• Bind to target mRNA, blocking
translation or promoting
degradation via RNase H
activity.
•Applications:
• Used to treat genetic
disorders (e.g., spinal
muscular atrophy).
• Example: Nusinersen
(Spinraza) for SMA treatment. https://splisense.com/about-asos/
 Therapeutics 27

RNA-based Therapies
mRNA Vaccines
•What are mRNA Vaccines?
• Vaccines that use synthetic messenger RNA to instruct cells to produce
a protein that triggers an immune response.
•Mechanism:
• mRNA is translated into target antigens (e.g., spike protein of SARS-
CoV-2).
• Induces an adaptive immune response without using live pathogens.
•Applications:
• Rapid development and deployment against infectious diseases.
• Examples: Pfizer-BioNTech and Moderna COVID-19 vaccines.

Advantages of RNA-based Therapies

• Targeted approach to gene regulation.
• Minimal off-target effects compared to traditional therapies.
• Versatility: Applicable to a wide range of diseases.
• Rapid development capabilities, especially for vaccines.
https://naturalsciences.ch/covid19-vaccination-
explained/mrna_vaccines/wie_funktioniert_ein_mrna_impfstoff_
 Diagnostic Biotechnology 28

Importance of Biotechnology in Diagnostics

Importance of Biotechnology in Diagnostics
Biotechnology has revolutionized the field of diagnostics, offering
accurate, fast, and sensitive tools for detecting diseases.

Some of the key biotechnological tools include:

• Polymerase Chain Reaction (PCR)
• Enzyme-Linked Immunosorbent Assay (ELISA)

Benefits of Biotechnological Diagnostics

• Accuracy: Enhanced specificity and sensitivity in detecting diseases.
• Speed: Faster diagnosis, leading to timely treatment.
• Early Detection: Allows identification of diseases at earlier stages.
• Wide Application: Useful for infectious diseases, cancer, genetic
disorders, and more

https://www.creative-biolabs.com/enzyme-linked-immunosorbent-assay-elisa-a-
versatile-tool-for-biomedical-research-and-diagnostics.html
 Diagnostic Biotechnology 29

Polymerase Chain Reaction (PCR)

Working Principle:
• Denaturation (94-98°C): Double-stranded DNA is
heated to separate into single strands.
• Annealing (50-65°C): Primers bind to the target DNA
sequence.
• Extension (72°C): DNA polymerase synthesizes new
DNA strands, starting from the primers.
• Repetition: The process is repeated for 20-40 cycles,
exponentially amplifying the target DNA.

Key Components:
• Template DNA: The DNA sample containing the target sequence.
• Primers: Short DNA sequences that initiate replication. https://byjus.com/question-answer/the-polymerase-chain-reaction-is/

• DNA Polymerase (e.g., Taq polymerase): Enzyme that adds

nucleotides to synthesize new DNA.
• Nucleotides (dNTPs): Building blocks of DNA.
• Buffer solution: Maintains optimal conditions for enzyme activity.
 Diagnostic Biotechnology 30

Polymerase Chain Reaction (PCR)

Medical Diagnostics Application:
▪ Infectious Disease Detection:
• Pathogen Identification: Detects bacteria (e.g.,
Mycobacterium tuberculosis) or viruses (e.g., HIV, SARS-CoV-
2) from patient samples.
• Viral Load Monitoring: Quantifies virus levels in diseases like
HIV or Hepatitis B.
▪ Genetic Testing:
• Inherited Disorders: Detects mutations linked to diseases
such as cystic fibrosis and sickle cell anemia.
• Prenatal Screening: Early detection of chromosomal
abnormalities (e.g., Down syndrome).
▪ Cancer Diagnostics:
• Oncogene Detection: Identifies mutations in genes like
BRCA1/2 for breast cancer risk assessment.
▪ Forensic and Paternity Testing: Amplifies DNA samples for
identification purposes.
https://advances.massgeneral.org/pulmonary/article.aspx?id=1413
 Diagnostic Biotechnology 31

Next-Generation Sequencing (NGS)

Overview:
• NGS is a high-throughput DNA sequencing technology that allows the simultaneous sequencing of
millions of DNA fragments.
• Revolutionized genomic research and clinical diagnostics by providing detailed genetic information
rapidly and cost-effectively.
The generations it is classified into include:
First Generation
• Sanger Sequencing
Second Generation Sequencing
• Pyrosequencing
• Sequencing by Reversible Terminator Chemistry
• Sequencing by Ligation
Third Generation Sequencing
• Single Molecule Fluorescent Sequencing
• Single Molecule Real Time Sequencing
• Semiconductor Sequencing
• Nanopore Sequencing https://www.pacb.com/blog/the-evolution-of-dna-sequencing-tools/

Fourth Generation Sequencing

Aims conducting genomic analysis directly in the cell.
 Diagnostic Biotechnology 32

Next-Generation Sequencing (NGS)

NGS for Genetic Disease Diagnosis:
• Comprehensive Analysis: NGS can identify
single nucleotide variants (SNVs), insertions,
deletions (indels), and copy number
variations (CNVs) associated with genetic
disorders.
• Whole Genome Sequencing (WGS): Provides
a complete genetic blueprint, enabling the
detection of both known and novel mutations
linked to diseases.
• Whole Exome Sequencing (WES): Focuses on
the protein-coding regions (exons), capturing
about 1-2% of the genome where most
disease-causing mutations occur.
• Targeted Gene Panels: Customized to
sequence a specific set of genes related to
particular conditions (e.g., cancer, rare
diseases).

https://microbenotes.com/next-generation-sequencing-ngs/
 Diagnostic Biotechnology 33

Next-Generation Sequencing (NGS)

Clinical Applications:
• Monogenic Disorders: Diagnosing
diseases caused by mutations in a single
gene (e.g., cystic fibrosis, sickle cell
anemia).
• Multifactorial Conditions: Identifying
genetic predispositions for diseases like
diabetes, cardiovascular disorders, and
cancer.
• Prenatal and Newborn Screening:
Detecting inherited disorders early,
improving treatment outcomes.
Advantages:
• High throughput: Simultaneous analysis
of thousands of genes.
• Reduced time and cost compared to
traditional sequencing methods.
• Increased diagnostic yield for complex
and rare genetic disorders.
https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2022.802719/full
 Diagnostic Biotechnology 34

Proteomics in Diagnostics
Introduction to Proteomics:
• Definition: Study of the full set of
proteins expressed by a genome, tissue,
or organism.

• Relevance: Proteins are the functional

molecules in cells; changes in protein
expression and modification can
indicate disease.

Advantages of Proteomic Diagnostics:

• Sensitivity: Detects minute changes in
protein expression.
• Specificity: Identifies disease-specific
proteins, improving diagnostic accuracy.
• Comprehensive: Provides a holistic view
of the molecular changes in diseases.
https://en.wikipedia.org/wiki/Proteome
 Diagnostic Biotechnology 35

Proteomics in Diagnostics
Role of Proteomics in Diagnostics:

• Biomarker Discovery: Identifies

protein biomarkers associated with
diseases like cancer, cardiovascular
diseases, and infectious diseases.

• Early Detection: Allows for earlier

diagnosis by detecting disease-
specific proteins before clinical
symptoms appear.

• Disease Stratification: Helps

differentiate between subtypes of
diseases for personalized medicine
(e.g., cancer subtypes).

https://www.nautilus.bio/blog/applications-of-proteomics-biomarker-discovery/
https://www.mdpi.com/2227-7382/10/3/26
 Diagnostic Biotechnology 36

Proteomics in Diagnostics
Techniques in Proteomics:

• Mass Spectrometry (MS):

Key technology for identifying and
quantifying proteins.

• 2D Gel Electrophoresis:
Used for separating proteins based
on size and charge.

• Protein Microarrays:
Allows for high-throughput protein
interaction studies and biomarker
identification.

https://www.researchgate.net/publication/46257013_Proteomics_of_Embryonic_Implantation
/figures?lo=1&utm_source=google&utm_medium=organic
 Diagnostic Biotechnology 37

Proteomics in Diagnostics
Applications in Medical Diagnostics:

• Cancer: Identification of proteins

involved in tumor development and
progression (e.g., PSA for prostate
cancer).

• Infectious Diseases: Proteomic

profiling of pathogens and host
response (e.g., HIV, tuberculosis).

• Cardiovascular Diseases: Discovery

of cardiac biomarkers (e.g., troponins
for heart attack diagnosis).

https://www.silantes.com/types-of-proteomics/
 Diagnostic Biotechnology 38

Metabolomics in Diagnostics
Overview
• Metabolomics: Study of small
molecules (metabolites) in biological
samples such as blood, urine, or
tissues.
• Offers a snapshot of physiological
status, reflecting both genetic and https://humanmetabolome.com/ap/techinfo/

environmental influences.

Advantages
• Comprehensive: Captures real-time
physiological changes.
• Non-Invasive: Can be performed
using blood or urine samples.
• Precision: Facilitates individualized
diagnosis and treatment. https://www.researchgate.net/publication/321045124_Next-generation_metabolomics_in_lung_cancer_diagnosis_treatment_and_precision_medicine_Mini_review/figures?lo=1
 Diagnostic Biotechnology 39

Metabolomics in Diagnostics
Key Techniques:
Mass Spectrometry (MS)
• Measures
molecular mass
of metabolites.
• Provides high
sensitivity for
detecting a wide
range of
metabolites.
Nuclear Magnetic
Resonance (NMR)
Spectroscopy
• Provides
structural
information.
• Non-destructive
but less sensitive https://www.nature.com/articles/s41592-021-01197-1

than MS.
 Diagnostic Biotechnology 40

Metabolomics in Diagnostics
Applications in Diagnostics:
Early Disease Detection:
• Identifies biomarkers of diseases
(e.g., cancer, diabetes,
cardiovascular diseases).
Personalized Medicine:
• Tailors treatment based on
individual metabolic profiles.
Monitoring Disease Progression:
• Tracks changes in metabolite levels
to assess treatment efficacy.
Metabolic Disorders:
• Diagnoses inherited metabolic
disorders (e.g., phenylketonuria).

https://www.metabolon.com/why-metabolomics/your-guide-chapter-4-importance-metabolomics-insights/
 Future Trends 41

Artificial Intelligence in Biotechnology

Drug Discovery
• AI-Powered Drug Design: Accelerates
the identification of new drug
candidates by predicting how
molecules will interact with biological
targets.
• Predicting Drug Efficacy and Safety: AI
models analyze large datasets to
predict the potential efficacy and side
effects of drug compounds.
• Repurposing Existing Drugs: Machine
learning algorithms identify new
therapeutic uses for already-approved https://www.vlinkinfo.com/blog/role-of-ai-in-drug-discovery-and-healthcare/

drugs.
 Future Trends 42

Artificial Intelligence in Biotechnology

Patient Care
• Personalized Treatment Plans: AI-
driven systems analyze patient data to
recommend tailored treatments based
on genetic makeup, medical history,
and lifestyle.
• Predictive Diagnostics: AI can detect
diseases at earlier stages by analyzing
medical images, genetic data, and
symptoms.
• AI-Powered Virtual Assistants: Assist
healthcare providers and patients with
real-time monitoring and
recommendations for managing
chronic diseases. https://www.cmu.edu/news/stories/archives/2023/august/revolutionizing-health-care-harnessing-artificial-intelligence-for-better-patient-care
 Future Trends 43

Artificial Intelligence in Biotechnology

Clinical Trials
• Optimizing Trial Design: AI helps to
design clinical trials by predicting
outcomes and identifying ideal
patient populations.

• Patient Recruitment and

Retention: AI tools analyze patient
data to identify the most suitable
candidates for clinical trials,
improving recruitment efficiency.

• Data Analysis and Monitoring:

AI streamlines the processing of
clinical trial data, identifying
patterns and adverse events in
real-time. https://medium.com/@Clinion/ai-in-clinical-trials-f55c294fc326
Reference 44

Medical Biotechnology
Bernard R. Glick (Editor), Cheryl L.
Patten (Editor), Terry L. Delovitch
(Editor)

ISBN: 978-1-683-67347-7
December 2013 | ASM Press
 Final examination (5%) 45
CLO2: Discuss biotechnology issues related to daily life and the future
Group Assignment: Applications of Medical Biotechnology in Daily Life and the Future
Task: In groups of 6-7, discuss how medical biotechnology impacts daily life and how it might shape the
future of healthcare. Your discussion should cover both current applications and future potential, with
real-life examples.

Instructions (15 minutes for preparation):

1. Identify at least one current applications of medical biotechnology that relate to daily life:
Diagnostics (e.g., PCR testing, NGS for genetic disease screening), Therapeutic development (e.g., recombinant
proteins, vaccines)
2. Explore future trends in medical biotechnology. How could innovations like gene therapy, CRISPR, or synthetic
biology transform healthcare in the coming decades?
3. Consider ethical, social, and economic implications of these technologies. Discuss potential challenges or
benefits, including accessibility, cost, and patient outcomes.
4. Present your findings in a group presentation, using a mix of slides, visuals, and clear explanations in 5 minutes.

Evaluation Criteria:
Relevance & accuracy of content (1%) Clarity & structure of the presentation (2%)
•Group participation & teamwork (1%) Engagement with ethical, social, and future implications (1%)