Personalized medicine are medicine which are made according to different genetic makeup of an individual

1. Personalized Medicine
Name: Nawab Khatoon
Presented to: Mam Hina

2. Personalized Medicine

3. Lets see a short video clip
• http://bioinformaticsonline.com/videolist/watch/4003/personalised-
medicine-animation

4. What does Personalized Medicine Means?

5. “Personalized medicine is the use of diagnostic and screening methods to
better manage the individual patient’s disease or predisposition toward a
disease….
“Personalized medicine combines patients genomic information with their
family history, Lifestyle and environmental factors to make better prediction
about their risk for disease or response to prescription drugs and tailor
treatments for improved health”
Personalized Medicine:
Definition
Personalized Medicine

7. Standard Biochemical
Pathway
GCCCACCTC
CGGGTGGAG
GCCCACCUC
DNA (genome)
RNA (transcript)
protein
(e.g., enzyme)
metabolites

8. A New Biomarker Toolbox:
Shift to Personalized Care
Human Genome Sequence
(Genomics)
Polymorphisms ~ 10,000,000
Gene Expression Profiles
(Transcriptomics)
Microarrays of ~ 25,000 gene transcripts
Proteome
(Proteomics)
Protein arrays of specific protein products ~
100,000
Metabolome
(Metabolomics)
Small molecule metabolites ~ 5000
A New Biomarker Toolbox: Shift to Personalized Care

9. DNA Microarry

10. Example: Gene Expression
Profiling
Example: Gene Expression
Profiling

11. DNA cleaved in fragments
Fragments fixed on beads
(excess)
PCR amplification in emulsion
(1 bead/droplet)
Transfer to multi-well (pL) slide
(1 bead/well)
Addition of smaller beads covered
with enzymes involved in
sequencing

12. Elongation of fragments
Sequential injection of nucleotides
If the nucleotide is incorporated,
generation of light detected by a
camera

13. Outcome A Outcome B
Patient A Patient B
Cardiovascular Insult or Therapy
Gene chips “Biosignatures”
Concept of “Biosignature”

14. Standard of Care
(A or B)
“Omics”-guided
A or B
Outcome
Random Selection
A or B
Outcome
Health and Economic Outcomes
The Path to Personalized
Medicine
A B
The Path to Personalized Medicine

15. • Polymorphism – an area of DNA sequence that varies from person
to person
• “Single nucleotide polymorphism” (SNP) – a polymorphism in
which a single base in the DNA differs from the usual base at that
position
• “Copy number variant” (CNV) – a polymorphism in which the
number of repeats of a DNA sequence at a location varies from
person to person
• “Indel” – a polymorphism in which a DNA sequence is either
present (insertion) or absent (deletion) at a location, varying from
person to person
Genomics – DefinitionsGenomics – Definitions

16. Types of Polymorphisms
GCCCGCCTC
CGGGCGGAG
GCCCACCTCCTC
CGGGTGGAGGAG
GCC CTC
CGG GAG
Single Nucleotide Polymorphism (SNP)
Copy Number Variant (CNV)
“Indel” Polymorphism
GCCCACCTC
CGGGTGGAG

18. Example of patient treated by Personalized
Medicine
• Story of Cleb Nolan suffering from Cystic Fibrosis disease
• Completely recovered by Personalized Medicine

19. Where is Personalized Medicine Helping
most?
• Melanoma: 73%
• Thyroid: 51%
• Colorectal: 51%
• Lung and pancreatic: 41%
• Breast: 32%
• Other diseases too

20. Future of personalized Medicine
• According to Abrahams,
“ At some point, and I don’t know whether that will be 10 to 15 years
from now, we will reach that tipping point where all medicines are
linked to diagnostics, and we will move out of the one size fits all
paradigm,” he says
“One day, Patients will say, “I'm not an average patient. I am who I am.
You need to understand who I am before you prescribe whatever
treatment you plan to prescribe”, he says. "When that day comes, we’ll
no longer have to talk about personalized medicine”

21. ThankYou! 