HUMAN GENOME PROJECT

Human Genome Project

UNIVERSITY OF CENTRAL LANCASHIRE

School of Forensic & Investigative Sciences

CAN THE HUMAN GENOME PROJECT LEAD

TO AN EVEN GREATER UNDERSTANDING

OF GENETIC DISEASES/DISORDERS

WITH THE POSSIBILITY TO PREVENT THEM

AND THE PROBLEMS THAT WILL ARISE FROM THIS

This Dissertation is submitted in

Accordance to the requirements for

The BSc Degree in Forensic Science

By

Daniel Robert Brazier

April 2009

Tutor : Dr. Judith Smith

TABLE OF CONTENTS

Abstract4

Chapter 1: Introduction5

Body No cure exists for Parkinson's disease5

Chapter 2: Literature Review11

Background11

Human Genome Project11

Diseases And Disorders25

What the Human Genome Project can do26

Methods of Treatment26

Ethics and Law28

Chapter 3: Methodology30

Cell Culture30

Viral Constructs30

Adenoviral Infection and Glutamate Excitotoxicity30

DJ-1-Null Mice, Colony Maintenance, and Genotyping31

Intrastriatal Viral Injection and Focal Ischemia Induction31

Histological Staining and Infarct Volume Assessment32

Immunohistochemistry33

Statistical Analysis34

Chapter 4: Results and Discussion35

Discussion41

References51

Appendices60

Abstract

The Human Genome Project has shown advancement in the scientific and medical society and has helped to show that there is a way to treat many diseases and disorders, though with the cost of leaving ethical and other problems from doing this.

Keywords: Human Genome Project, Disease, Disorder, Gene Therapy, Ethics

Chapter 1: Introduction

Parkinson's disease is a progressive disorder of the central nervous system affecting over 1 million people in the United States. Clinically, the disease is characterized by a decrease in spontaneous movements, gait difficulty, postural instability, rigidity and tremor. Parkinson's disease is caused by the degeneration of the pigmented neurons in the Substantia Nigra of the brain, resulting in decreased dopamine availability. The Substantia Nigra is made up of cells called neurons or nerve cells which perform the work of the brain.

The major symptoms of the disease were originally described in 1817 by an English physician, Dr. James Parkinson, who called it "Shaking Palsy". Only in the 1960's, however, pathological and biochemical changes in the brain of patients were identified, opening the way to the first effective medication for the disease. Both men and women are affected. The frequency of the disease is considerably higher in the over 50 age group, even though there is an alarming increase of patients of younger age. In consideration of the increased life expectancy in this country and worldwide, an increasing number of people will be victims of Parkinson's disease.

Body No cure exists for Parkinson's disease

Treatment usually centers on medications that provide relief from its symptoms. In prescribing treatment, physicians must assess the severity of the patient's symptoms and match them to an appropriate form of therapy or medication. No two persons respond identically to a particular drug or dosage level, so this process involves a certain amount of experimentation, persistence, and patience. Results may be only partially successful, and even these may demand adjustment as the disease progresses. Physicians often begin by prescribing less powerful drugs, the anticholinergics or amantadine for example, reserving stronger medications like levodopa for later, when the disease's progression necessitates more aggressive treatment.

Levodopa (also called L-dopa), the active anti-Parkinson drug in Sine met and its generic brands, is the single most beneficial drug to relieve symptoms of Parkinson's disease. Levodopa is a short-acting drug that enters the brain and is converted into dopamine, the neurotransmitter that ...