The document discusses DNA technology and its applications in genetics, genomics, medical genetics, pharmacogenetics, and gene therapy. It summarizes the goals and findings of the Human Genome Project, including identifying all human genes and better understanding the role of genetics in disease. Personalized medicine is emerging as a result of gaining insights into how genetic and genomic factors influence health and disease.

1. PRESENTED BY – LAVINA BHATNAGAR . MANJOT SINGH, MAMTA BHARADWAJ

2. DNA
Technology
The Human
Genome MOLECULAR Gene
Diversity Therapy
Project GENETICS
The Human
Genome Project

3.  Genetics is the study of genes and their effects.
 Genomics is the study not just of single genes but of the functions and
interactions of many genes in the genome.
 Medical genetics is any application of genetic principles to medical practice. This
includes studies of inheritance, mapping disease genes, diagnosis and
treatment, and genetic counseling.
 Pharmacogenetics is the study of how drugs affect the body with respect to
specific genetic backgrounds. Knowledge of these effects can improve
effectiveness of drugs and minimize side effects on an individual –patient basis.

4. It has emerged as a basic biological sciences for
understanding the endogenous factors in health and disease
and the complex interaction between nature and nurture..

5.  Analysis of the specific sequences that are known and also unknown.
 Identification of mutation that arise the disease.
 Amplifying known DNA sequences.
 Techniques for synthesis of DNA.
 Cloning strategies.

6.  It is the introduction of the gene sequence into a cell.
 Aim is to modifying the cell’s behaviour in a clinically relevant fashion.
 Gene therapy should take its place alongside other forms of medical treatments.

7.  The human genome project Is an attempt to synthesis the research on mapping
and isolating human genes.
 Agencies with a role in co-ordination human genome data include
UNESCO,HUGO ,etc..
 The human genome diversity project Is the part of a work HUGO.
 Its aim is to increasing understanding of human population.
 Differences in distribution between population may often be accounted for by
“FOUNDER EFFECTS”.

8.  The Human Genome Project (HGP) was an international research effort to read
and map all of the genes in the human body, which together are known as the
human genome.
 The HGP, completed in April of 2003, gave scientists the ability, for the first time,
to read the complete genetic blueprint for building a human being (National
Human Genome Research Institute [NHGRI], 2008b).
 As a result of human genome discoveries, it is now known that genetic factors
play a role in nine of the ten leading causes of death in the United States,
including heart disease, cancer, and diabetes.
 Human genome research is also leading to a better understanding of the
interactions between genes and the environment and helping to find better ways
to improve health and prevent disease

9.  The completion of the HGP, by opening new doors for understanding the
underlying causes of rare and common diseases, is leading to a new type of
medicine, called personalized medicine.
 Learning about the influence of genetic and genomic factors on health and
disease is leading towards earlier diagnosis,
Genetic medicine EFFECTIVE AND
as primary care INDIVIDUALISED PREVENTION
INDIVIDUALISED TREATMENT
BETTER RESPONSE TO
 Personalized medicine is TREATMENTS,
transforming healthcare
IMPROVED HEALTH
OUTCOMES

10.  Prenatal diagnosis
 Pre-implantation and preconception diagnosis
 Genetic screening programmes –
selective mass screening for congenital and hereditary diseases among newborns;
biochemical screening - common congenital abnormalities of the fetus . Ultrasound
screening for congenital abnormalities of the fetus.
 Genetic monitoring –
population and high-risk monitoring;
Basic group methods used in genetic monitoring;
Therapy of genetic diseases –

conventional therapy of genetic diseases,
gene therapy of monogenic diseases,
 Personalized Medicine
 Moral, ethical and legal issues in genetic counselling, genetic
 screening, gene therapy and the creation of DNA banks.

11. BIOLOGICAL DETERMINANT OF HEALTH
EFFECT OF GENES ON HEALTH STATUS
HORMONE
BODY
SEX PRODUCTI
TYPE
ON
PREDISPO
AGE SITION TO
DISEASE

12. UNDERWEIGHT OVER WEIGHT
COMPROMISED IMMUNE CVD
FUNCTION DIABETES
RIGHT WEIGHT
RESPIRATORY DISEASE SOME TYPE OF CANCERS
DIGESTIVE DISEASE OSTEOARTHRITIS
OSTEOPOROSIS GALL BLADDER DISEASE

13. SEX/ HORMONES
CHEMICAL MESSAGE TO CELLSTHAT CAUSE CHANGES IN
BODY
TESTOSTERONE
INC METABOLISM,DECREASES RISK OF
FAT DEPOSITION
OESTROGEN
DECREASES RISK OF HEART DISEASE
MAINTAINS BONE DENSITY
REGULETES FAT DEPOSITION

14. BURDEN OF DISEASE WAS HIGHEST
AT MIDDLE ADULTHOOD
MENTAL ILLNESS
DIABETES
CVD
• INCREASES • INCREASES • THE BURDEN OF • HIGH BLOOD
WITH AGE WITH AGE DISEASE WAS PRESSURE/HIGH
• PREDOMINANT • OREDOMINANT GREATER IN LEVEL OF
AT 60YRS AND AT 55 YRS TO 75 BOTH SEXES AT CHOLESTROL
ABOVE YRS EARLY TO • PROPORTION
MIDDLE OF CASES
ADULTHOOD INCREASES
WITH AGE IN
BOTH MALES
AND FEMALES

15. GENETIC PREDISPOSITION
PERSON MAY BE AT GREATER RISK OF ACQUIRING A DISEASE OR A CONDITION IF
THEY HAVE A BIOLOGICAL PARENT WHO HAS HAD THE DISEASE.
EXAMPLES
ALZIMERS DISEASE
IF YOUR PARENT HAS HIGH CVD
CHOLESTROL THEN U HAVE A HIGH
DIABETES TYPE 1 & 2
RISH OF DEVELOPING HIGH LEVEL OF
CHOLESTROL MIGRAINE CERTAIN CANCERS (BREAST
PROSTRATE)