question

what is the experimental technique for correcting the defective genes responsible for disease development

answer

Gene therapy

question

use of genes as medicines or drugs to treat or prevent human disease by correcting altered genes in patient's bodies to rid them of illness forever

answer

human gene therapy

question

what deficiency is caused by Severe Combined Immune Deficiency (SCID)

answer

Adenosine deaminase (ADA) deficiency

question

disorders that cause severe abnormalities in the immune system by reducing the numbers and/or function of T and B lymphocytes

answer

SCID

question

what happens when the immune system doesn't function properly?

answer

it is difficult or impossible for the body to battle the viruses, bacteria, and fungal infections

question

lymphocytes

answer

specialized white blood cells made in bone marrow and the thymus gland that fight infection

question

the gene on what chromosome is mutated in ADA

answer

chromosome 20

question

what does ADA do?

answer

breaks down a toxic substance called deoxyadenosine.

question

what toxin builds up and destroys infection-fighting immune cells (T&B lymphocytes)

answer

deoxyadenosine

question

3 different approaches to gene therapy

answer

1. replacing missing or mutated genes that cause disease with healthy copies 2. introducing a new gene into the body to help fight a disease 3. changing the regulation of a gene

question

most common approach to gene therapy

answer

replacing missing or mutated genes

question

what country performs 63.7 % of the word's clinical trials in gene therapy

answer

USA USA USA

question

when was the first therapeutic human gene therapy clinical trial approved?

answer

1990

question

what disease is the most common studied in clinical trials of gene therapy

answer

CANCER 64%

question

these diseases are what types of disorders -severe combined immunodeficiency -cystic fibrosis -duchenne muscular dystrophy -familial hypercholesterolemia

answer

inherited single gene (monogenetic disorders)

question

what is mainly afffected by SCID

answer

hematopoietic cells

question

what is mainly affected by cystic fibrosis

answer

airway epithelia

question

what is mainly affected by familial hypercholesterolemia

answer

liver

question

disorders that involve mutation in oncogenes, tumor suppressor genes and DNA repair genes

answer

acquired disorders (cancer)

question

what gene is mutated that causes cystic fibrosis

answer

CTFR gene (chr. 7)

question

therapy that involves transfer of genes to human embryonic cells; creation of transgenic humans

answer

germ-line gene therapy

question

features of germ line gene therapy

answer

gene transfer ti embryonic cells is successfully practiced in animals; this is not primarily for therapeutic purposes, but for creating recombinant proteins *targets germ cells, which allows the inserted gene to be passed to futute generations; NOT practiced in humans for ethical reasons

question

therapy that involves transfer of genes to somatic cells in order to correct or replace the function of affected genes

answer

somatic cell gene therapy

question

features of somatic cell gene therapy

answer

may be introduced to somatic cells at all levels of development *NO impact on future generations as changes to somatic cells are not heritable

question

which type of therapy's main objective is to cure hereditary acquired genetic defects by insertion of normal genes to target cells and to restore the normal functioning if affected cells in the body

answer

objectives of somatic cell gene therapy

question

which type of therapy has no effect on future generations as changes to the ____cells cannot be inherited

answer

somatic gene therapy; somatic

question

1. cells are removed from the body 2. in the lab, a virus is altered so that it cannot reproduce 3. a gene is inserted into the virus 4. the altered virus is mixed with cells from the patient 5. the cells from the patient become genetically altered 6. the altered cells are returned to the body 7. the altered cells produce the desired protein

answer

PROCESS OF GENE THERAPY

question

when is ex vivo therapy possible?

answer

when it is relatively easy to take the cells from the patients body and propagate them in sufficient #s outside the body

question

-cells are removed from the body -purified or enriched cell populations are obtained -cells are transfected with a vector -transfected cells are selected and returned to the body

answer

EX VIVO

question

-vector is injected directly into the bloodstream or placed directly into the target tissue -adenoviral infection of tracheal epithelial or infection of a tumor mass

answer

IN VIVO

question

Autologous ex vivo gene therapy

answer

-cells are derived from the patients body -involves the isolation of totipotent hematopoietic stem cells -effective in diseases which respond to bone marrow transplantation -transfection of stem cells may lead to a permanent cure

question

Pros and Cons of Autologous ex vivo gene therapy

answer

*uses autologous cells *little chance of immune rejection since cells are taken from and infused back into the same individual *stem cells are present in low abundance, and are difficult to isolate and culture in vitro *minimal number of available promoter-enhancers sequences that can drive long-term expression of various proteins

question

gene therapy: -involves isolating cells that grow well in culture and which can be transfected efficiently, these may originate from animals or humans -after genetic modification, cells are encapsulated in an articficial semi-permeable membrane, allowing for the diffusion of therapeutic protein but bypassing the immune response

answer

NON-AUTOLOGOUS EX VIVO GENE THERAPY

question

cells used for NON-AUTOLOGOUS EX VIVO GENE THERAPY

answer

fibroblasts, keratinocytes, astrocytes, hepatocytes, or myoblasts

question

microencapsulated CYP2B1-transfected cell mediated treatment treats what? and what phase of clinical trials is it?

answer

advanced inoperable pancreatic carcinoma

question

cells used in autologous? non-autologous?

answer

patient's own body; animal or human (not from patient)

question

differences in immune rejection in autologous? non-autologous?

answer

slight chance, high chance

question

availability of autologous? non-autologous?

answer

low abundance- difficult to isolate and culture in vitro? *high abundance

question

ADA deficiency target cells and therapeutic genes

answer

lymphocytes & bone marrow stem cells--> ADA

question

Cystic fibrosis target cells and therapeutic genes

answer

lung epithelial cells; CFTR

question

familial hypercholesterolemia target cells and therapeutic genes

answer

liver cells; LDLR

question

duchenne's muscular dystrophy target cells and therapeutic genes

answer

muscle stem cells; dystrophin

question

hemophilia B target cells and therapeutic genes

answer

liver cells, skin cells; factor 9 gene

question

melanoma target cells and therapeutic genes

answer

tumor-infiltrating lymphocytes; TNF, HLA B7

question

lung cancer target cells and therapeutic genes

answer

lung cancer cells, p53

question

brain tumors target cells and therapeutic genes

answer

brain tumor cells, HSV-tk

question

arthritis target cells and therapeutic genes

answer

joints; Interleukin-1

question

AIDS target cells and therapeutic genes

answer

lymphocytes; HSV-tk

question

way to correct non-specific insertion into the genome

answer

gene augmentation therapy

question

selective reverse mutation by homologous recombination

answer

correction of the target gene by mutation

question

delivery of suicidal genees

answer

direct killing of disease cells

question

delivery of immune-enhancing genes

answer

assisted killing of disease cells by immune system cells

question

regulation of gene expression

answer

targeted inhibition of gene expression

question

2 applications of gene therapy

answer

monogenetic disease and cancer

question

1. harvest of BM 2. ex vivo purification (CDm34+cell) 3. cytokine cocktail+gene induction (replacement of the ADA gene) 4. gene modified CD34+cells 5. intravenous injection

answer

steps involved in ADA gene therapy

question

-replace missing or altered genes -improve immune response -introduce "suicide genes" into cancer cells -delivery of genes into cancer cells -delivery of antisense DNA and ribozymes

answer

gene therapy approaches in cancer

question

ways to improve immune response to cancer

answer

1) delivery of cytokine genes into cancer cells to induce a local inflammatory reaction 2) enhance the recognition and reaction of T lymphocytes towards tumor cells by insertion of T cell receptor genes

question

what is the transport of triphosphorylated ganciclovir between cells helps even non-transfected tumor cells

answer

the bystander effect

question

-retrovirus is engineered to produce and deliver herpes simplex virus thymidine kinase -the kinase phosphorylates the drug ganciclovir, which then incorporates into the DNA of dividing tumor cells and terminates chain elongation

answer

Suicide gene therapy in vivo for brain tumors

question

what type of cells do retroviruses infect, what does that lead to?

answer

only infect dividing cells so the infect tumor cells but not normal brain issue

question

steps in in vivo gene therapy for brain tumors

answer

1- MRI guided stereotactic implantation of vector producer cells into CNS tumors 2-vector producing cells inside the tumor 3-retroviruses infect tumor cells 4-GCV kills infected cells

question

which of the following is a preferred vector of transfering gene to nerve cells? A) adenoviral vector B)HSV vector and SV40 C) retroviral vector D) vaccine vector E) none

answer

A) adenoviral vector

question

which of the following is a preferred vector of transfering gene to brain tumor cells? A) adenoviral vector B)HSV vector and SV40 C) retroviral vector D) vaccine vector E) none

answer

C) retroviral vector

question

which of the following is not a preferred vector of transfering gene to nerve cells? A) adenoviral vector B)HSV vector and SV40 C) retroviral vector D) vaccine vector E) none

answer

C)

question

which of the following is not a preferred vector of transfering gene to bain tumor cells? A) adenoviral vector B)HSV vector and SV40 C) retroviral vector D) vaccine vector E) none

answer

A

question

what type of vector is most commonly used for gene therapy

answer

virus vectors

question

properties of an ideal viral vector?

answer

high viral titres site-specific integration low toxicity ability to be regulated convenience and reproducibility of production

question

does an ideal viral vector exist?

answer

no

question

what is used when -genes responsible for the pathogenicity of the viral vector are disabled -exploits the natural ability of the virus to infect human cells

answer

viral vectors for gene delivery

question

gene therapy that 1) production of recombinant retrovirus carrying the therapeutic gene in a packaging cell line 2) integration of the therapeutic gene into the genome of human target cells using recombinant vectors

answer

gene therpay with retroviral vectors

question

gene therapy with the following properties: -stable integration of therapeutic genome -minimal risk (non-pathogenic)

answer

Retroviral Vector Gene Therapy

question

retrovirus used commonly, that can incorporate large genes up to 7-7.5Kb

answer

MuLV

question

virus that is non-pathogenic to humans, but can transduce post-miotic cells and tissue, including neurons, retinal, muscle and hematopoietic

answer

lentiviruses

question

current types of viral vectors

answer

retrovirus, adenovirus, adeno-associated virus, HSV

question

what virus is not known to treat any symptoms

answer

adeno-associated viruses

question

what occurs when E1 and E3 deletions happen in vectors

answer

strong inflammatory/ immune responses

question

what virus(es) have stable integration? if so in what situation?

answer

retroviruses- random insertional mutagenesis adenoviruses- in vivo

question

what virus has the largest insertion capacity (35kb)

answer

adenovirus

question

True or false somatic and germ line cells are used for gene therapy. Why?

answer

False, because only somatic cells cannot be passed on to future generations

question

which viral vector is described by the following? -vector most widely used for in vivo gene therapy -can hold up to 35kb -infect a wide variety--> high efficiency -can infect dividing and non-dividing -have high titres -and do not incorporate into the genome

answer

Adenoviral vectors

question

what virus does not infect non-dividing cells? what is one exception?

answer

retroviruses; lentiviruses

question

what do the following have in common? -naked DNA injection -use of liposomes -receptor-mediated endocytosis

answer

Non-viral vectors

question

What virus has a high immune response

answer

adenoviruses

question

2 factors of non-viral vectors

answer

low transfection efficiency and simple large scale production and low host immunogenicity

question

4 examples of recent developments in gene therapy research

answer

-trichromatic vision given to monkeys -gene therapy for inherited blindness -killer T cells to target cancer cells for metastatic melanoma -tumor suppressing genes in lipid based nanoparticles to reduce human lung cancer tumors in mice

question

What are 3 limitations of viral vectors

answer

-small capacity for therapeutic DNa -safety concerns -low transfection efficiency

question

Goals of Gene Therapy Research

answer

-development of injectable vectors -targeting of vectors to specific cell populations -safe and efficient gene transfer into appropriate regions of the genome -regulation of gene expression by either administration of simple small molecule drugs or by the body's own physiological signals -cost effective to manufacture -curing the disease

question

what does allovectin-7 increase

answer

the ability of the immune system to recognize cancer cells and kill them

question

what is the main problem of gene delivery?

answer

how to get the new or replacement genes into the desired tissues

question

What phase of gene therapy clinical trials tests safety and efficacy in small # of humans

answer

phase #1 (59.6%)

question

are the following disorders caused by one singular gene or by multiple genes? -cancer, heart disease, high BP, Alzheimer's. arthritis, and diabetes

answer

combined effect in various genes

question

what substance was used to study gene therapy agent in the treatment of cancer

answer

allovectin-7

question

what is allovectin-7 used for?

answer

plasmid/lipid complex containing the DNA sequences encoding HLA-B7 and B2 microglobulin (part of MHC I)

question

are single or multiple genes the best candidate for gene therapy

answer

single genes

question

what factors keep gene therapy from becoming an effective treatment?

answer

-insertion mutagenesis -immune response -problems with viral vectors -affects reproductive cells -short lived nature of gene therapy -multigene disorders

question

what causes difficulty in delivering large sections of DNA to the correct site on the comparatively large human genome

answer

insertion mutagenesis

question

what causes toxicity, immune and inflammatory responses, gene control and targeting issues, reversion of the virus to its original form

answer

problems with viral vectors

question

what type of disorders are hard to treat effectively using gene therapy

answer

multigenetic or multifactorial disorders

question

nucleic acid that stores genetic blueprints, there are 3 billion nucleotide base pairs in the human genome

answer

DNA

question

sequence of DNA on the chromosome which codes for protein

answer

gene

question

different forms of genes

answer

allele

question

inherited instructions carried within an organism's genetic code

answer

genotype

question

ethical issues surround gene therapy

answer

-somatic gene therapy vs. germ line -who will have access to the highly expensive therapies -should it only be used for medical purposes (i.e. genetic modification of hair follicles or increased muscle mass)

question

is gene therapy safe?

answer

NO

question

an organisms observable characteristics or traits, such as its morphology, development, biochemical, or physiological properties or behaviors

answer

phenotype

question

a common variation in the DNA sequence among individuals, often responsible for individual characteristics

answer

DNA polymorphism

question

entire set of chromosomes in an organism, encompassing all of the genetic material in the cell >99% identical between individuals

answer

genome

question

what ApoE allele is 7% frequency, what phenotype?

answer

ApoE2; protection

question

what ApoE allele has a 79% frequency, what phenotype?

answer

ApoE3; neutral

question

what ApoE allele has a 14% frequency, what phenotype

answer

ApoE4; risk

question

what is a single-letter nucleotide change in DNA

answer

SNP

question

in what % of the population do SNPs occurs

answer

1%

question

true or false, SNPs are considered

answer

false

question

what involves the influence of genetic variation on drug response in patients by correlating gene expression or SNPs with a drug's efficacy and toxicity?

answer

pharmacogenetics

question

what does pharmacogenetics aim to do?

answer

development of rational means to optimize drug therapy, with respect to patients genotype to inc. efficacy w/ min. adverse affects

question

4 features of pharmacogenomics

answer

*apply genomics to solve problems in drug treatments *study of genetic variation among individuals in response to drugs -whole genome application -basis for personalized medicine

question

difference between pharmacogenomics vs. pharmacogenetics in terms of gene(s) interaction with drug

answer

genomics-whole genome application genetics- a single gene

question

difference between pharmacogenomics vs. pharmacogenetics in terms of DNA vs RNA

answer

genomics- uses both genetics- only DNA

question

difference between pharmacogenomics vs. pharmacogenetics in terms of drug affects

answer

genomics- studies genome wide role of variation in drug response --> how genetic variability affects response genetics- drug metabolism

question

application of pharmacogenomics in cancer

answer

used to identify which patients are more likely to respond to certain drugs. i.e. Herceptin/HER2

question

application of pharmacogenomics in cardiovascular disease

answer

response to drugs inlcuding warfarin

question

application of pharmacogenomics in enzyme deficiency

answer

glucose-6-phosphate dehydrogenase in primaquine-sensitive blood cells

question

application of pharmacogenomics in drug metabolism

answer

cytochrome P450 (CYP) genes and TPMT

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