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Table of Contents
Pharmacogenetics ........................................................................................................................... 2

Pharmacogenomics ......................................................................................................................... 2

Difference and relation between Genetics and Genomics .............................................................. 2

Mechanism of genetic disorder ....................................................................................................... 3

Genetic disease................................................................................................................................ 4

Ashthma ...................................................................................................................................... 4

Symptoms ............................................................................................................................... 4

Treatment ................................................................................................................................ 4

Medications ............................................................................................................................. 5

Wilson disease ................................................................................................................................ 6

Symptoms ................................................................................................................................... 6

Treatment .................................................................................................................................... 7

Medications ................................................................................................................................. 8

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Pharmacogenetics

Pharmacogenetics has been defined as the study of variability in drug response due to heredity
More recently, with the fashion for adding the suffix omics’ to areas of research.

Pharmacogenomics

pharmacogenomics has been introduced. While the former term is largely used in relation to
genes determining drug metabolism, the latter is a broader based term that encompasses all genes
in the genome that may determine drug response.

Difference and relation between Genetics and Genomics

Genetics Genomics

Description The study of genes, genetic Genomics is an

variation, and heredity in living interdisciplinary field of science
organisms focusing on genomes. A
genome is a complete set of
DNA within a single cell of an
organism.

Study Study of genes Study of genomes

Studies Gene refers to the specific Genome refers to the entire

sequence of DNA on a single genetic information across all
chromosome that encodes a the chromosomal pairs of the
specific product organism

Definition (WHO) Genetics is the study of Genomics is defined as the

heredity. study of genes and their
functions, and related
techniques.

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Field Biology Molecular biology, a subset of
biology

Organisms studies Bacteria, plants, animals, and Bacteria, plants, animals, and
humans. humans.

Purpose Genes and their roles in The structure, function,

inheritance evolution, and mapping of
genomes. The study of genes,
their functions, and related
techniques, such as applications
of recombinant DNA, DNA
sequencing methods, and
bioinformatics to sequence,
assemble, and analyze the
function and structure of
genomes.

Mechanism of genetic disorder

A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away
from the normal sequence. Genetic disorders can be caused by a mutation in one gene
(monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a
combination of gene mutations and environmental factors, or by damage to chromosomes
(changes in the number or structure of entire chromosomes, the structures that carry genes).

Genetic disorders typically involve the inheritance of a particular mutated disease-causing gene,
such as sickle cell disease, cystic fibrosis, and Tay-Sachs disease. The mutated gene is passed
down through a family, and each generation of children can inherit the gene that causes the
disease. Rarely, one of these monogenic diseases can occur spontaneously in a child when
his/her parents do not have the disease gene, or there is no history of the disease in the family.
This can result from a new mutation occurring in the egg or sperm that gave rise to that child.

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Genetic disease

Ashthma
Asthma is a disease that affects the breathing passages of the lungs (bronchioles). Asthma is
caused by chronic (ongoing, long-term) inflammation of these passages. This makes the
breathing tubes, or airways, of the person with asthma highly sensitive to various "triggers."

Symptoms

Current guidelines for the care of people with asthma include classifying the severity of asthma
symptoms, as follows:

 Mild intermittent: This includes attacks no more than twice a week and nighttime attacks
no more than twice a month. Attacks last no more than a few hours to days. Severity of
attacks varies, but there are no symptoms between attacks.
 Mild persistent: This includes attacks more than twice a week, but not every day, and
nighttime symptoms more than twice a month. Attacks are sometimes severe enough to
interrupt regular activities.
 Moderate persistent: This includes daily attacks and nighttime symptoms more than once
a week. More severe attacks occur at least twice a week and may last for days. Attacks
require daily use of quick-relief (rescue) medication and changes in daily activities.
 Severe persistent: This includes frequent severe attacks, continual daytime symptoms,
and frequent nighttime symptoms. Symptoms require limits on daily activities.

Just because a person has mild or moderate asthma does not mean that he or she cannot have a
severe attack. The severity of asthma can change over time, either for better or for worse.

Treatment
If you or a loved one has asthma, you should know about the most effective asthma treatments
for short-term relief and long-term control. Understanding asthma treatments will enable you to
work with your asthma doctor to confidently manage your asthma symptoms daily. When you do
have an asthma attack or asthma symptoms, it's important to know when to call your doctor or
asthma specialist to prevent an asthma emergency. Be sure to read all the in-depth articles that

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link to topics within each of the following sections. By doing so, you will gain new insight into
asthma and how it's treated.

Medications
Quick Relief-

Brand Name(s) Generic Name

None (formerly Alupent) Metaproterenol
Epinephrine Mist®, Adrenaclick®, Adrenalin®, Epinephrine
Adrenalin Chloride®, S2®, EpiPen Jr® 2-Pak,
Twinject®, Epipen® 2-Pak, Auvi-Q

Ventolin® HFA, Proventil® HFA, Proair® HFA, Albuterol

VoSpire ER®, ProAir® RespiClick

Xopenex®, Xopenex® HFA, Xopenex® Concentrate Levalbuterol

Long term control

Brand Name(s) Generic Name

Accolate Zafirlukast
Advair Diskus®, Advair® HFA, AirDuo Fluticasone and Salmeterol
RespiClick®
Aerospan HFA® Flunisolide
Alvesco® Ciclesonide
Asmanex® Twisthaler, Asmanex® HFA Mometasone

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Wilson disease

Wilson’s disease, also known as hepatolenticular degeneration and progressive lenticular

degeneration, is a rare genetic disorder that causes copper poisoning in the body. It affects about
1 in 30,000 people worldwide.

In a healthy body, the liver filters out excess copper and releases it through urine. With Wilson’s
disease, the liver cannot remove the extra copper properly. The extra copper then builds up in
organs such as the brain, liver, and eyes.

Early diagnosis is crucial for stopping the progression of Wilson’s disease. Treatment may
involve taking medication or getting a liver transplant. Delaying or not receiving treatment can
cause liver failure, brain damage, or other life-threatening conditions.

Talk to your doctor if your family has a history of Wilson’s disease. Many people with this
condition live normal, healthy lives.

Symptoms
The signs and symptoms of Wilson’s disease vary widely, depending on which organ is affected.
They can be mistaken for other diseases or conditions. Wilson’s disease can only be detected by
a doctor and through diagnostic testing.

Liver-related

The following symptoms may indicate copper accumulation in the liver:

 weakness
 feeling tired
 weight loss
 nausea
 vomiting
 loss of appetite
 itching
 jaundice, or yellowing of the skin

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Many of these symptoms, such as jaundice and edema, are the same for other conditions like
liver and kidney failure. Your doctor will conduct multiple tests before confirming a diagnosis of
Wilson’s disease.

Neurological

Copper accumulation in the brain can cause symptoms such as:

 memory, speech, or vision impairment

 abnormal walking
 migraines
 drooling
 insomnia
 clumsiness with hands
 personality changes
 changes in mood
 depression
 problems in school

In the advanced stages, these symptoms may include muscle spasms, seizures, and muscle pain
during movement.

Treatment
The mainstay of therapy for Wilson disease is pharmacologic treatment with chelating agents
such as D-penicillamine and trientine. Other agents include sodium dimercaptosuccinate,
dimercaptosuccinic acid, zinc, and tetrathiomolybdate.. Zinc salts act as inductors of
methallothioneins, which favor a negative copper balance and a reduction of free plasmatic
copper.

The use of surgical decompression or transjugular intrahepatic shunting (TIPS) in the treatment
of portal hypertension is reserved for individuals with recurrent or uncontrolled variceal bleeding
that is unresponsive to standard conservative measures.

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After the initiation of therapy with a chelating agent, the patient needs to be aware of potential
adverse effects of the agents with which he or she is being treated. For instance, some of the
concerning adverse effects are those commonly associated with penicillamine use. In addition, a
patient must also be aware of the potential to develop worsening of some symptoms when
chelation is started; in particular, patients with neurologic signs and symptoms can see worsening
of these with chelation, and, in some instances, therapy needs to be reduced or stopped.
Laboratory tests in patients started on penicillamine should include hematology and biochemical
monitoring, as well as urinalysis.

With clinical progression, acute liver failure, or worsening hepatic function, the patient must be
evaluated at a center with expertise in Wilson disease and the capability to perform liver
transplantation.

Orthotopic liver transplantation is curative treatment for Wilson disease. Also see Liver
Transplantation.

Medications

If you take medications for Wilson's disease, treatment is lifelong. Medications include:

 Penicillamine (Cuprimine, Depen). A chelating agent, penicillamine can cause serious

side effects, including skin and kidney problems, bone marrow suppression, and
worsening of neurological symptoms. Penicillamine should be used cautiously if you
have a penicillin allergy. It also keeps vitamin B-6 (pyridoxine) from working, so you'll
need to take a supplement in small doses.
 Trientine (Syprine). Trientine works much like penicillamine but tends to cause fewer
side effects. Still, neurological symptoms can worsen when taking trientine.
 Zinc acetate (Galzin). This medication prevents your body from absorbing copper from
the food you eat. It is typically used as maintenance therapy to prevent copper from
building up again after treatment with penicillamine or trientine.

Zinc acetate might be used as primary therapy if you can't take penicillamine or trientine. Zinc
acetate can cause stomach upset.