o A febrile illness with rash or
 AAV (adeno-associated virus): A
viral vector system for gene
delivery.
 Acquired mutations: Gene
changes that arise within
individual cells and accumulate
throughout a person's lifetime;
also called somatic mutations.
 Adenosine deaminase deficiency
(ADA): A severe immunodeficiency
disease that results from a lack of
the enzyme adenosine deaminase.
It usually leads to death within the
first few months of life.
 Adenovirus: A group of DNA
containing viruses which cause
respiratory disease, including one
form of the common cold.
Adenoviruses used in gene
therapy are altered to carry a
specific tumor-fighting gene or can
be used to treat cystic fibrosis and
potentially other diseases.
 Alleles: Variant forms of the same
gene. Different alleles produce
variations in inherited
characteristics such as eye color or
blood type.
 Alphavirus: A genus of viruses of
the family Togaviridae, including
Sindbis Virus and Semliki Forest
Virus, that cause encephalitis or
 Autosome: Any of the non-sex-
arthralgia.
 Alzheimer's disease: A disease that
causes memory loss, personality
changes, dementia and,
ultimately, death. Not all cases are
inherited, but genes have been
found for familial forms of
Alzheimer's disease.
 Amino acid: Any of a class of 20
molecules that combine to form
proteins in living things.
 Amyotrophic lateral sclerosis: An
inherited, fatal degenerative nerve
disorder; also known as Lou
Gehrig's disease.
 Anti-angiogenesis: Prevents the
growth of new blood vessels.
Tumors need their own blood
supply to survive and by halting
the development of new blood
vessels, the tumor's supply of
oxygen and nutrients are cut off,
thus destroying the tumor.
 Antigens: A substance that when
introduced into the body
stimulates the production of an
antibody. Antigens include toxins,
bacteria, foreign blood cells, and
the cells of transplanted organs.
 Apoptosis: Programmed cell
death, the body's normal method
of disposing of damaged,
unwanted, or unneeded cells.
determining chromosomes.
Human cells have 22 pairs of
autosomes.
 B
 Base pairs: The two
complementary, nitrogen-rich
molecules held together by weak
chemical bonds. Two strands of
DNA are held together in the
shape of a double helix by the
bonds between their base pairs.
 Biologics: A classification of
products derived from living
sources, such as humans, animals,
bacteria and viruses. Vaccines,
immune globulin, and anti-toxins
are biologics.
 BRCA1 breast cancer susceptibility
gene: A mutated version of BRCA1
(a gene that normally helps to
restrain cell growth), which
predisposes a person toward
developing breast cancer.
 C
 Carrier: A person who has a
recessive mutated gene, together
with its normal allele. Carriers do
 not usually develop disease but
can pass the mutated gene on to
their children.
 Cell: Small, watery, membrane-
bound compartment filled with
chemicals; the basic subunit of any
living thing.
 Chemical base: An essential
building block. DNA contains four
complementary bases: adenine,
which pairs with thymine, and
cytosine, which pairs with
guanine. In RNA, thymine is
replaced by uracil.
 Chromosomes: Long strings of
genetic material made up of DNA
and accessory proteins. The DNA
contains the approximately 30,000
to 100,000 genes that make up
the human genome.
Chromosomes come in pairs, and
a normal human cell contains 46
chromosomes, 22 pairs of
autosomes and two sex
chromosomes.
 Clinical Translation: Process that
transforms research evidence into
clinical guidelines and policy. The
aim of translation is to provide
useful, useable, and relevant
packages of summarized evidence
to clinicians in a form that suits
their time, cost, and care
standards. Generically, these
evidence-based clinical packages
are called clinical practice
guidelines.
 Clinical Trial: A clinical trial is a
research study in human
volunteers to answer specific
questions about vaccines or new
therapies or new ways of using
known treatments. Clinical trials
(also called medical research and
research studies) are used to
determine whether new drugs or
treatments are both safe and
effective. Carefully conducted
clinical trials are the fastest and
safest way to find treatments that
work in people. Trials are in four
phases: Phase I tests a new drug
or treatment in a small group;
Phase II expands the study to a
larger group of people; Phase III
expands the study to an even
larger group of people; and Phase
IV takes place after the drug or
treatment has been licensed and
marketed.
 Clone: A group of identical genes,
cells, or organisms derived from a
single ancestor.
 Cloning: The process of making
genetically identical copies.
 Cystic fibrosis: An inherited
disease in which a thick mucus
clogs the lungs and blocks the
ducts of the pancreas.
 Cytoplasm: The cellular substance
outside the nucleus in which the
cell's organelles are suspended.
 D
 DNA (deoxyribonucleic acid):
Genes are composed of segments
of DNA, a very long molecule that
carries a cell's genetic information.
DNA consists of two long chains of
nucleotides twisted into a double
helix and joined by hydrogen
bonds between the
complementary bases adenine
and thymine or cytosine and
guanine. The four nucleotides in
DNA contain the bases: adenine
(A), guanine (G), cytosine (C), and
thymine (T). The sequence of
nucleotides determines individual
hereditary characteristics.
 DNA repair genes: certain genes
that are part of a DNA repair
pathway; when altered, they
permit mutations to pile up
throughout the DNA.
 DNA sequencing: Determining the
exact order of the base pairs in a
segment of DNA.
 Dominant allele: A gene that is
expressed, regardless of whether
its counterpart allele on the other
chromosome is dominant or
 recessive. Autosomal dominant
disorders are produced by a single
mutated dominant allele, even
though its corresponding allele is
normal.
 Duchenne muscular dystrophy: A
form of muscular dystrophy that is
characterized by decreasing
muscle mass and progressive loss
of muscle function in male
children. This disorder is caused by
a mutation in a specific gene
within the X chromosome that
provides instructions for the
formation of the dystrophin
protein. Females can be carriers
but generally do not experience
the symptoms of the condition.
 E
 Enzyme: A protein that facilitates
a specific chemical reaction.
 Ex vivo Gene Therapy : Patient
cells are harvested and cultivated
in the laboratory and incubated
with vectors carrying a corrective
or therapeutic gene. Cells with the
new genetic information are then
harvested and transplanted back
into the patient from whom they
were derived.
 F
 Familial cancer: Cancer, or a
predisposition toward cancer, that
runs in families.
 Fanconi anemia: A genetic disease
that causes cells in the bone
marrow to die.
 Functional gene tests: Biochemical
assays for a specific protein, which
indicates that a specific gene is not
merely present but active.
 G
 Gaucher's disease: A genetic
disease that affects fat
metabolism.
 Gene: A segment of DNA found on
a chromosome that codes for a
particular protein. Humans have
approximately 20,000 to 25,000
genes contains the code for a
specific product, typically, a
protein such as an enzyme.
 Gene deletion: The total loss or
absence of a gene.
 Gene doping: The non-therapeutic
use of cells, genes, genetic
elements, or of the modulation of
gene expression, having the
capacity to improve athletic
performance.
 Gene expression: The process by
which a gene's coded information
is translated into the structures
present and operating in the cell
(either proteins or RNAs).
 Gene mapping: Determining the
relative positions of genes on a
chromosome and the distance
between them.
 Gene markers: Landmarks for a
target gene, either detectable
traits that are inherited along with
the gene, or distinctive segments
of DNA.
 Gene testing: Examining a sample
of blood or other body fluid or
tissue for biochemical,
chromosomal, or genetic markers
that indicate the presence or
absence of genetic disease.
 Gene Therapy: Treatment that
consists of introducing into a
patient a normal copy of one or
more defective genes responsible
for the patient’s disease. When a
gene is damaged, the blueprint for
the construction of the protein it
codes for is imperfect: the
resulting protein is therefore
abnormal. The goal of gene
therapy is to cure a genetic
disease by repairing the damaged
gene responsible for the disease.
It involves introducing a normal
copy of the gene into cells
containing the damaged version.
The cells then can produce the
normal protein.
 Genetic Engineering: A way of
directly manipulating genetic
 material in a cell or organism to
produce desired traits.
 Genetics: The scientific study of
heredity: how particular qualities
or traits are transmitted from
parents to offspring.
 Genome: The sum of all the
genetic material in the
chromosomes of a particular
organism.
 Genome maps: Charts that
indicate the ordered arrangement
of the genes or other DNA
markers within the chromosomes.
 Genomics: The study of all of the
nucleotide sequences, including
structural genes, regulatory
sequences, and non-coding DNA
segments, in the chromosome of
an organism.
 Genotype: The actual genes
carried by an individual.
 Germ cells: The reproductive cells
of the body, either egg or sperm
cells.
 Germline therapy: A gene is
inserted into the DNA of the
germline cells (egg or sperm) so
that the offspring of the patient
will have the inserted gene.
 H
 Hematopoietic stem cell: An
unspecialized precursor cell that
will develop into a mature blood
cell.
 Hemophilia: A hereditary bleeding
disorder caused by the lack of
certain clotting factors in the
blood.
 Hereditary mutation: A gene
change in the body's reproductive
cells (egg or sperm) that becomes
incorporated in the DNA of every
cell in the body; also called
germline mutation.
 Herpes viruses: Viruses which can
affect the skin and central nervous
system, includes Herpes simplex,
Herpes zoster, and
Cytomegalovirus.
 Human genome: The full
collection of genes needed to
produce a human being.
 Huntington's disease: An adult-
onset disease characterized by
progressive mental and physical
deterioration; it is caused by an
inherited dominant gene
mutation.
 I
 Immunodeficiency: A state in
which the immune system's ability
to fight infectious disease is
compromised or entirely absent.
Most cases of immunodeficiency
are acquired ("secondary") but
some people are born with defects
in the immune system, or primary
immunodeficiency.
 Immunotherapy: Stimulates or
restores the ability of the immune
system to fight infection and
disease. Research hopes to
harness immune mechanisms
against tumor cells, by using the
patient's own immune system or
the transfer of antibodies or T-
cells from an outside source.
 In vivo Gene Therapy: A vector
carrying the therapeutic gene(s) is
directly administered to the
affected tissue.
 Inborn errors of metabolism:
Inherited diseases resulting from
alterations in genes that code for
enzymes.
 L
 Lentivirus: Viruses of the
Retroviridae family, characterized
by a long incubation period. HIV,
SIV, and FIV are all examples of
lentiviruses.
 Leukemia: Cancer that begins in
developing blood cells in the bone
marrow.
 Li-Fraumeni syndrome: A family
predisposition to multiple cancers,
caused by a mutation in the p53
tumor-suppressor gene.
 Lymphocytes: Small white blood
cells that plays a large role in
defending the body against
disease. Lymphocytes are
responsible for immune
responses. There are two main
types of lymphocytes: B cells and T
cells. The B cells make antibodies
that attack bacteria and toxins
while the T cells attack body cells
themselves when they have been
taken over by viruses or have
become cancerous. Lymphocytes
secrete products (lymphokines)
that modulate the functional
activities of many other types of
cells and are often present at sites
of chronic inflammation.
 M
 Melanoma: A cancer that begins in
skin cells called melanocytes and
spreads to internal organs.
 Molecule: A group of atoms
arranged to interact in a particular
way; one molecule of any
substance is the smallest physical
unit of that particular substance
 Multifactorial disorder: A
genetically linked disorder that is
not purely the result of heredity;
they are the result of multiple
gene mutations and
environmental factors. Examples:
cancer, diabetes, heart disease.
 Mutation: Change in the number,
arrangement, or molecular
sequence of a gene. As a result,
the gene no longer makes a
normal copy of the protein that it
encodes.
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 N
 Newborn screening: Examining
blood samples from a newborn
infant to detect disease-related
abnormalities or deficiencies in
gene products.
 Nucleotide: A subunit of DNA or
RNA, consisting of one chemical
base plus a phosphate molecule
and a sugar molecule.
 Nucleus: The cell structure that
houses the chromosomes.
 O
 Oncogenes: Genes that normally
play a role in the growth of cells
but, when overexpressed or
mutated, can foster the growth of
cancer.
 P
 p53: a transcription factor
encoded by the TP53 gene. p53 is
important in multicellular
organisms, where it regulates the
cell cycle and thus functions as a
tumor suppressor that is involved
in preventing cancer.
 Parkinson's Disease: A
degenerative disorder of the
central nervous system that often
impairs the sufferer's motor skills
and speech.
 PCR: Polymerase chain reaction
(PCR) is a key technique in
molecular genetics that permits
the analysis of any short sequence
of DNA (or RNA) without having to
clone it. PCR is used to reproduce
(amplify) selected sections of DNA.
PCR is highly efficient so that
untold numbers of copies can be
made of the DNA. .
 Phenotype: The observable traits
or characteristics of an organism,
for example hair color, weight, or
the presence or absence of a
disease. Phenotypic traits are not
necessarily genetic.
 Plasmid: A circular, double-
stranded unit of DNA that
replicates within a cell
independently of the
chromosomal DNA.
 Poxviruses: Viruses associated
with diseases that produced poxs
in the skin. The smallpox virus
remains as the most notable
member of the Poxviridae family.
 Preclinical Trial: Refers to the
testing of experimental drugs in
the test tube or in animals - the
testing that occurs before trials in
humans may be carried out.
 Probe: A specific sequence of
single-stranded DNA, typically
labeled with a radioactive atom,
which is designed to bind to, and
thereby single out, a particular
segment of DNA.
 Promoter: A site on DNA to which
the enzyme RNA polymerase can
bind and initiate the transcription
of DNA into RNA.
 Prophylactic surgery: Surgery to
remove tissue that is in danger of
becoming cancerous, before
cancer has the chance to develop.
Surgery to remove the breasts of
women at high risk of developing
breast cancer is known as
prophylactic mastectomy.
 Protein product: The protein
molecule assembled under the
direction of a gene.
 Protein: A large, complex molecule
composed of amino acids. The
sequence of the amino acids and
thus the function of the protein is
determined by the sequence of
the base pairs in the gene that
encodes it. Proteins are essential
to the structure, function, and
regulation of the body. Examples
are hormones, enzymes, and
antibodies.
 R
 Recessive allele: A gene that is
expressed only when its
counterpart allele on the matching
chromosome is also recessive (not
dominant). Autosomal recessive
disorders develop in persons who
receive two copies of the mutant
gene, one from each parent who is
a carrier.
 Recombinant DNA: A novel DNA
sequence formed by the joining,
usually in vitro, of two non-
homologous DNA molecules.
 Recombination: A phenomenon
that sometimes occurs during the
formation of sperm and egg cells
(meiosis); a pair of chromosomes
(one from the mother and the
other from the father) break and
trade segments with one another.
 Reproductive cells: Egg and sperm
cells. Each mature reproductive
cell carries a single set of 23
chromosomes.
 Restriction enzymes: Enzymes that
can cut strands of DNA at specific
base sequences.
 Retinoblastoma: An eye cancer
caused by the loss of a pair of
tumor-suppressor genes; the
inherited form typically appears in
childhood, since one gene is
missing from the time of birth.
 Retrovirus: A type of virus that
contains RNA as its genetic
material. The RNA of the virus is
translated into DNA, which inserts
itself into an infected cell's own
DNA. Retroviruses can cause many
diseases, including some cancers
and AIDS.
 RNA (ribonucleic acid): A molecule
that is chemically similar to DNA
and carries the same code. The
several classes of RNA molecules
play important roles in protein
synthesis and other cell activities.
 S
 Sarcoma: A type of cancer that
starts in bone or muscle.
 Serious Adverse Event: Any
untoward medical occurrence in
human drug trials that at any dose
results in: death, is life-
threatening; requires inpatient
hospitalization or prolongation of
existing hospitalization, results in
persistent or significant
disability/incapacity, or is a
congenital anomaly/birth defect.
 Serotype: A group of closely
related microorganisms
distinguished by a characteristic
set of antigens.
 Sex chromosomes: The
chromosomes that determine the
sex of an organism. Human
females have two X chromosomes;
males have one X and one Y.
 Sickle-cell anemia: An inherited,
potentially lethal disease in which
a defect in hemoglobin, the
oxygen-carrying pigment in the
blood, causes distortion (sickling)
and loss of red blood cells,
producing damage to organs
throughout the body.
 Somatic cells: All body cells except
the reproductive cells.
 Somatic Therapy: Involves the
manipulation of gene expression
in cells that will be corrective to
the patient but not inherited by
the next generation. Somatic cells
include all the non-reproductive
cells in the human body.
 Stem cell: A progenitor blood cell
made in the bone marrow that can
give rise to all the cells of the
blood and immune system,
including red blood cells, white
cells to fight infection, and
platelets for clotting.
 Suicide gene: A strategy for
making cancer cells more
vulnerable to chemotherapy. One
approach has been to link parts of
genes expressed in cancer cells to
other genes for enzymes not
found in mammals that can
convert a harmless substance into
one that is toxic to the tumor.
 T
 Tay-Sachs disease: An inherited
disease of infancy characterized by
profound mental retardation and
early death; it is caused by a
recessive gene mutation.
 Transcription: The process of
copying information from DNA
into new strands of messenger
RNA (mRNA). The mRNA then
carries this information to the
cytoplasm, where it serves as the
blueprint for the manufacture of a
specific protein.
 Translation: The process of turning
instructions from mRNA, base by
base, into chains of amino acids
that then fold into proteins. This
process takes place in the
cytoplasm, on structures called
ribosomes.
 Tropism: Refers to host tropism
that is a process of tropism that
determines which cells can
become infected by any given
pathogen. Various factors
determine the ability of a
pathogen to infect a particular
cell. Viruses, for example, must
bind to specific cell surface
receptors to enter a cell. If a cell
does not express these receptors
then the virus cannot normally
infect it.
 Tumor-suppressor genes: Genes
that normally restrain cell growth
but, when missing or inactivated
by mutation, allow cells to grow
uncontrolled. P53 is a tumor
suppressor gene.
 V
 Vaccinia virus: Virus is closely
related to the virus that causes
cowpox. It is in the pox family of
viruses, which also includes
smallpox. Vaccinia is so mild that it
is typically asymptomatic in
healthy individuals, but may
causes a mild rash and fever, with
an extremely low rate of fatality.
 Vectors: Gene therapy delivery
vehicles, or carriers, that
encapsulate therapeutic genes for
delivery to cells. These include
both genetically disabled viruses
such as adenovirus and nonviral
vectors such as liposomes.
 Viruses: Tiny organisms, smaller
than bacteria, consisting of a
protein coat and some nucleic
acid. They only reproduce inside
living cells and can cause disease.
 W
 Wilms' tumor: A kidney cancer
(tumor) that occurs in children,
usually before age five.
 X
 X chromosome: A sex
chromosome, normal females
carry two X chromosomes.
 X-SCID: Severe combined
immunodeficiency disease is a
combined deficiency of the
immune system's two major
weapons, antibodies and T cells,
are genetically missing or disabled.
SCID is rare, the chances of a child
being born with SCID are about
one in 500,000 births. X-linked
SCID, the most common type, is a
genetic flaw damages molecules
that allow T cells and B cells to
receive signals from crucial growth
factors.
 Y
 Y chromosome: A sex
chromosome, normal males carry
one Y and one X chromosome.