the sleepy English village of Narborough
awoke to news of a horrific crime: A
girl named Lynda Mann had been raped and murdered on a country lane near her home.
The killer left behind few clues, except for semen on the victim’s body and clothes. Despite extensive
investigation, the t
rail of evidence ran cold and the crime went unsolved.
Three years later, the horror
resurfaced when another 15
girl, Dawn Ashworth, was also raped and murdered less than a
mile away from the first crime scene. When tests indicated that the 1983 a
nd 1986 semen samples
could be from the same man, police began to search for a double murderer. After another extensive
investigation, a maintenance worker from a nearby hospital was arrested and charged with both crimes.
Under considerable pressure from p
olice, the worker confessed to the second murder, but denied
committing the first.
In an attempt to pin both murders on the suspect, investigators turned to Alec Jeffreys, a professor at
nearby Leicester University, who had recently developed the first DN
A fingerprint identification
system. Because the DNA sequence of every person unique (except for identical twins), DNA
used to determine with near certainty whether two samples of
netic material are
from the same individual. Jeffrey
DNA from the 1983 and 1986 semen samples. As the
pected, the DNA analysis proved that the same person had co
mitted both crimes. However,
when Jeffreys analyzed the suspec
DNA, it did not match either crime scene sample, proving th
suspect must he innocent. The police quickly released the suspect, making him the first person in legal
history to be exone
ated by DNA evidence.
The detectives were back at square one. In an attempt to
lect more evidence, they asked every young
male from the
rrounding area to donate blood for DNA testing. Although 5,000 men were sampled,
none had DNA that matched the
ence from the crime scenes. The police were once again stymi
The case finally b
roke when a pub
goer described how a
named Cohn Pitchfork had bullied him
submitting blood on Pitchfork’s behalf. The police promptly ar
rested Pitchfork and took a sample
of his blood. Indeed, his DNA matched the samples from the two crime scenes
. Cohn Pitchfork pleaded
guilty to both crimes, closing the first murder case ever to be solved by DNA evidence.
The Narborough murders were the first of many criminal in
vestigations that have relied on DNA
methods for studying
and manipulating genetic material
revolutionized the field of forensics, the scientific analy
sis of evidence for legal investigations. Since
its introduction, DNA fingerprinting has become a standard law enforcement tool and has provided
ial evidence (of both innocence and guilt) in many famous cases, including the O.J. Simpson mur
der trial and the impeachment of President Bill Clinton. As we will see, DNA technology has
applications in many other fields, from cancer research to agricultu
re and even history. Perhaps the
most exciting use of DNA technology in basic research is the Human Genome Project, whose goal
to map the entire human DNA down to the level of its nucleotide sequences.
project is expected to
help us better underst
and and treat many diseases.
several significant roles that DNA technology has assumed in society, including gene cloning
to produce useful products, DNA fingerprinting and forensic sci
ence, human gene therapy for the
treatment of disease, co
isons of genomes from different organisms, and the agricultural production
of genetically modified organisms.
There are also
some of the social, legal, and ethical issues that are
raised by these new technologies.
The use of technology to alter the
genomes of viruses, bacteria, and other cells for medical or
industrial purposes is called genetic engineering.
These days, bacteria
, and animals are
neered to produce
Organisms that have had a foreign gene
inserted into them are called trans
(TRANSferred GENE = TRANS GENIC)
DNA technology is changing the pharmaceutical industry and medicine
DNA technology, and gene cloning in particular, is widely used
to produce medicines and to diagnose
Consider human insulin and human growth hormone
(HGH). In the United
States alone, about 2 million people with diabetes depend on insulin treatment. Before 1982, the main
sources of this
mone were pig and cattle tissues ob
tained from slaughterhouses. Insulin extracted
from these animals is chemi
cally similar, but not identical, to human insulin, and it causes harmful side
effects in some people. Genetic engineering has largely solve
d this problem by developing bacteria that
synthesize and secrete actual human insulin. In 1982,
growth hormone was harder to produce
sulin because the HGH molecule is about twice as big. Because growth hormones from other
animals are not eff
ective in hu
mans HGH was urgently needed. In 1985, molecular biolo
gists made an
artificial gene for HGH by joining a human DNA fragment to a chemically synthesized piece of DNA;
using this gene, they were able to produce HGH in
fore this gene
tically engineered hormone
became available, children with a HGH deficiency had to rely on scarce supplies from human cadavers
or else face dwarfism.
Human insulin produced by bacteria
In 1982, Humulin became the first recombinant drug approved by the
Food and Drug Administration
Recombinant DNA technology means
the DNA of an organism
it more useful to
It is used to produce bacteria
in large vats to get them
to make a
of a particular protein, such as insulin
hormone, clotting proteins for hemophiliacs
hepatitis B vaccine.
DNA technology is also helping medical researchers develop vaccines.
A vaccine is a harmless variant or derivative of a pa
thogen (usually a bacterium or virus) that is
used to prevent an infectious disease.
When a person is inoculated, the vaccine stimulates the immune system to develop lasting d
fenses against the pathogen.
For the many viral diseases for which there is no
effective drug treatment, prevention by va
cination is virtually the only medical way to prevent illness.
One DNA technology vaccine is for the hepatitis B virus.
Hepatitis is a disabling and sometimes fatal liver disease, and the hepatitis B virus may a
cause liver cancer.
Smallpox was once a dreaded human disease, but it was eradicated worldwide in the 1970s by
widespread vaccination with a harmless variant of the smallpox virus.
In fact, the harmless virus could be engineered to carry the genes needed to vaccinate against
several diseases simultaneously.
In the future, one inoculation may prevent a dozen diseases.
From Bacteria that help plants
Transgenic bacteria can also help plants.
For example, bacteria that live in
genes spliced in that let them
protects the roots
Bacteria can be genetically engineered to
degrade a particular substance, for instance,
bacteria have been produced which have the ability to eat oil after an oil spill
. Industry has found
that bacteria can be used as filters to prevent airborne chemicals from being vented into the air.
can also remove sulfur from coal before it is burned and help clean up toxic dumps. Furthermore,
bacteria were given “suicide” genes that cause them to self
destruct when the job is accomplished.
Many major mining companies
a to obtain various metals.
Genetic engineering may enhance
bacteria to extract copper, uranium
Plants can also be genetically engineered to make cotton, corn, soybeans, and potatoes resistant to pests
because their cells now produce an insect toxin.
Plants are also being engineered to
produce human hormones, clotting factors, and antibodies,
their seeds. One type of antibody made by corn can deliver a substance that kills tumor cells, and
another made by soybeans can be used as treatment for genital herpes.
Genetically modified organisms are transforming agriculture
Scientists concerned with
feeding the growing human popula
tion are using DNA technology to
genetically modified (GM) organisms for use
in agriculture. A GM organism (Or GMO)
is one that has
acquired one or more genes by artificial means rather than by traditional breeding me
gene may or may not be from another species.)
To make genetically modified plants, researchers can ma
nipulate the DNA of a single cell and then
grow a plant with a new trait from the engineered cell. Already in commercial use are a number
plants carrying new genes for desirable traits, such as delayed ripening and resis
tance to spoilage and
The most common vector used to introduce new genes into plant cells is a
piece of DNA from
With the help of a
enzyme, the gene for the desired trait
is inserted into a plant cell,
into a plant chromosome. Finally, the re
combinant cell is cultured and grows into
a whole plant. If the newly acquired gene is from another species, the recom
binant organism is
Genetic engineering is rapidly replacing traditional plant
breeding programs, especially in cases where
useful traits are determined by one or only a few genes. For example, the ma
jority of the American
oybean and cotton crops are geneti
cally modified. Many of these GM plants have received bacterial
genes that make the plants resistant to herbicides or pests. Farmers can more easily grow these crops
with far less tillage and reduced use of chemical insec
Genetic engineering also has great potential for improving the nutritional value of crop plants. “Golden
rice,” a trans
genic variety with a few daffodil genes, produces grains con
our body uses to make vitamin A. Thi
s rice could help prevent vitamin A deficiency
among the half of the world’s people who depend on rice as their staple food.
Agricultural researchers are also making transgenic animals. To do this, scientists first remove egg cells
from a female and fertilize them
They then inject a previously cloned gene directly into the
of the fertilized eggs. Some of the cel
ls integrate the foreign DNA into their genomes. The
engineered embryos are then surgically implanted in a surrogate mother. If an embryo develops
successfully, the result is a transgenic animal, containing a gene from a third “parent” that may even be
Techniques have been developed to insert genes into the eggs of animals.
The procedure has been used
to produce larger fish, cows, pigs, rabbits, and sheep. Genetically engineered fishes are now being kept
in ponds that offer no escape to
the wild because there is much concern that they will upset or destroy
The goals of creating a transgenic animal are often the same as the goals of traditional breeding
instance, to make a sheep with better quality wool or a cow t
hat will ma
ture in a shorter time. Scientists
might, for example, identify and clone a gene that causes the development of larger mus
make up most of the meat we eat) in one
ety of cattle and transfer it to other cattle or even to sheep
Transgenic animals also have been engineered to be phar
maceutical “factories” that produce otherwise
gical substance for medical use.
Recently, researchers have engineered transgenic chickens
that express large amounts of the foreign product
in their eggs. This success suggests that transgenic
chickens may emerge as relatively inexpensive pharmaceutical facto
ries in the near future.
Gene pharming is the use of
transgenic farm animals to produce therapeutic drugs in the
are plans to produce
the treatment of cystic fibrosis, cancer
diseases, and other disorders.
clotting medicine is currently
by a herd of goats.
Animals have been engineered to
hormone in their urine instead
milk. Urine is
only females produce milk,
until maturity, but all animals
Scientists have begun the process of
animals to serve as organ donors for
humans who need a transplant.
ability to transplant kidneys, heart
lung, and other organs. Unfortunately, however, there are
human donors to go round.
ans need transplants
, but only 20,000 patients get them. As many as 4,000 die
for an organ.
You might think that apes, such as the
chimpanzee or the baboon
might be a scientifically suitable species for this purpose. But ape
s are slow breeders and many people
object to using apes for this purpose. In contrast, pigs have been an acceptable meat source, and a
female pig can become pregnant at six months and can have two litters a year, each averaging about ten
arily, the human body rejects transplanted
pig organs. Genetic engineering, however,
pig organs good for transplantation
at less of a rejection risk.
Cloning of Animals
Imagine that an animal has
altered to serve as an
. What would be the best
to get identi
cal copies of
? If cloning of the animal
, you could get
Cloning is a form of asexual re
production (without sex) because
it requires only the
genes of that one animal.
In 1997, scientists at the Raslin
announced that they
cloned sheep called Dolly. In 1998
altered calves were
United States using the same method.
Could GM organisms ha
rm human health or the environment?
As soon as scientists realized the power of DNA technology, they began to worry about potential
dangers. Early concerns focused on the possibility that recombinant DNA technol
ogy might create new
pathogens. What might h
appen, for instance, it cancer cell genes were transferred into bacteria or
To guard against such rogue microbes, scientists de
veloped a set of guidelines that were adopted as
ernment regulations in the United States
and some other countries. One safety measure is a
set of strict laboratory procedures designed to protect researchers from infection by engineered
microbes and to prevent the microbes from acci
dentally leaving the laboratory. In addition, strains of
oorganisms to be used in recombinant DNA experiments are genetically crippled to ensure that
not survive outside the laboratory. Finally, certain obviously dangerous experiments have been
Today, most public concern about possible hazards
ters not on recombinant microbes but on
fied (GM) crop plants. Advocates of a cautious approach fear that some crops carrying
genes from other species might
cause allergies in humans or create super
weeds that are
Today, governments and regulatory agencies throughout the world are grappling with how to facilitate
the use of biotechnology in agriculture, industry, and medicine while ensuring that new products and
procedures are safe. In the United States, a
ll projects are evaluated for potential risks by regulatory
agencies such as the Food and Drug Administra
tion, Environmental Protection Agency, National
Institutes of Health, and Department of Agriculture. These agencies are under increasing pressure from
some consumer groups.
The Human Genome Project
The Human Genome Project was a massive
effort to put all of the genes in human chromosomes
into the proper sequence.
This was just finished in 2003.
Project goals were to identify all the 25,000
genes in human DNA and determine the sequences of the 3
billion amino acids that make up human DNA. This allows scientists
to detect some defective genes
and tailor a treatment plan to the individual
example, there is a genetic diseas
e of the liver that causes it to malfunction and leads to high levels
of blood cholesterol, which makes the patient subject to fatal heart attacks at a young age. The person is
injected with a virus that contains the normal gene. Another example is when fa
t enzymes are coated
with the missing gene to cure cystic fibrosis and then sprayed into patients’ nostrils. Anti
can also be injected directly into cancerous tumors. Perhaps it will be possible also to use gene therapy
to cure hemophilia, dia
betes, Parkinson disease, or AIDS.
and Treatment of Disease
DNA technology is being used increasingly in disease diagnosis. It is used to determine which genes are associated
with genetic diseases.
An individual’s gene expression profile may someday allow physicians to tailor treatments for
many different disorders.
The Role of Recombinant DNA
technology in Biotechnology
Recombinant DNA technology
Intentionally modifying genomes of
Eliminate undesirable phenotypic traits
Combine beneficial traits of two or
Create organisms that synthesize
The Tools of Recombinant DNA
Physical and chemical agents that
Scientists utilize mutagens to
Create changes in microbes’ genomes to
Select for and culture cells with beneficial characteristics
Mutated genes alone can be isolated
The Use of Reverse Transcriptase to
Isolated from retroviruses
Uses RNA template to transcribe molecule
Easier to isolate mRNA molecule for
Allows cloning in prokaryotic cells
Synthetic Nucleic Acids
of DNA and RNA produced in cell
Uses of synthetic nucleic acids
Elucidating the genetic code
Creating genes for specific proteins
Synthesizing DNA and RNA probes to
sequences of nucleotides
Synthesizing antisense nucleic acid
Bacterial enzymes that cut DNA molecules
One enzyme might only cleave T
enzyme only cleaves A
T apart, etc.
We use one enzyme, and see how many
. Then we use the next e
the sequence of DNA in a sample.
Nucleic acid molecules that deliver a gene
Small enough to manipulate in a lab
Survive inside cells
Contain recognizable genetic marker
Ensure genetic express
ion of gene
Include viral genomes, transposons,
A collection of bacterial or phage clones
Each clone in library often contains one gene
Library may contain all genes of a
Library may contain set of DNA
Techniques of Recombinant DNA
: The Polymerase Chain Reaction (PCR)
Large number of identical molecules of
Critical to amplify DNA in variety of
Epidemiologists use to amplify genome
Amplified DNA from
to identify source of spores
Repetitive process consisting of three steps
Can be automated using a ther
Separating DNA Molecules: Gel Electrophoresis
and the Southern Blot
Separates molecules based on electrical charge, size
Allows scientists to isolate DNA of interest
Negatively charged DNA drawn toward
Agarose makes up gel; acts as molecular sieve
Smaller fragments migrate faster and farther
Determine size by comparing distance migrated
Techniques of Recombinant DNA
Separating DNA Molecules: Gel Electrophoresis
and the Southern Blot
DNA transferred from gel to
Probes used to localize DNA sequence of interest
used to detect RNA
Uses of Southern blots
Diagnosis of infectious disease
Demonstrate incidence and prevalence of
cannot be cultured
Consist of molecules of immobilized single
Fluorescently labeled DNA washed over
adhere only at locations where there
Variety of scientific uses of DNA microarrays
Monitoring gene expression
Diagnosis of infection
Identification of organisms in an
Inserting DNA into Cells
Goal of DNA technology is insertion of DNA
gene gun and microinjection
is the genetic alteration of a cell resulting from the direct uptake, incorporation and
expression of exogenous DNA from its surroundings. Transformation occurs naturally in some species
of bacteria, but it can also be caused artificially.
when DNA is transferred from one bacterium to another by a virus (bacteriophage).
is when a bacterium uses its sex pilus to transfer some of its DNA to another bacterium.
Applications of Recombinant DNA
genes on a nucleic acid molecule
Provides useful facts concerning metabolism
characteristics, and relatedness
Until 1970, genes identified by labor
Simpler and universal methods now available
Fluorescent in situ hybridization (FISH)
Used to detect
Most microorganisms have never been grown
Scientists know them only by their
Allowed identification of over 500 species
from human mouths
Determined that methane
problem in rice agriculture
Pharmaceutical and Therapeutic
Creation of synthetic peptides for cloning
Production of safer vaccines
Introduce genes of pathogens into
Injecting humans with plasmid carrying
Humans synthesize pathogen’s proteins
DNA microarrays used to screen individuals
disease caused by mutations
Can also identify pathogen’s DNA in blood
Identifying individuals or organisms by
Missing or defective genes replaced with
Some patients’ immune systems react negatively
Patient specimens can be examined for
gene sequences unique to certain pathogens
Xenotransplants: Animal cells, tissues, or organs introduced
DNA technology is used in courts of law
DNA technology plays an important role in
tific analysis of evidence for
crime scene and other legal in
vestigations. In violent crimes, body fluids or small pieces of tissue may
be left at the crime scene or on the clothes of the victim or assailant
rape has occurred,
ered from the victim’s body. With enough tissue or semen, forensic scientists can determine the
blood type or tissue type using older methods that test for proteins. However, such tests require fresh
samples in relative large amounts. A
cause many people have the same blood or tissue type, this
approach can only exclude a suspect; it cannot provide strong evidence of guilt.
DNA testing, on the other hand, can identify the guilty individual with a high degree of certainty
the DNA sequence of every person is unique (except for identical twins). DNA testing requires
only about 1,000 cells. In a murder case, for example, such analysis can be used to compare DNA
samples from the suspect, the victim, and bloodstains on the suspe
provide a DNA
fingerprint, or specific pattern of bands
DNA fingerprinting can also be used to establish family relationships. A comparison of the DNA of a
mother, her child, and the purported father can conclusively settle a question
of paternity. Sometimes
paternity is of historical interest: DNA fingerprinting provided strong evidence that Thomas Jeffer
or one of his close male relatives fathered at least one child with his slave Sally Hemings.
Just how reliable is DNA fingerpr
inting? In most legal cases, the probability of two people having
identical DNA fingerprints is between one chance in 100,000 and one in a billion. For this reason, DNA
fingerprints are now accepted as compelling evidence by legal experts and scientists al
ike. In fact,
DNA analysis on stored forensic samples has provided the evidence needed to solve many “cold cases”
in recent years. DNA fingerprinting has also exonerated many wrongly convicted people, some of
whom were on death row.
DNA Fingerprinting a
nd the Criminal Justice System
Traditional fingerprinting has been used for years to identify criminals and to exonerate those wrongly
accused of crimes. The opportunity now arises to use DNA fingerprinting in the same way. DNA
only a small DNA sample. This sample and calm from blood left at the scene of
a crime, semen from a rape case, even a single hair root!
The DNA is amplified, cut with restriction enzymes, and separated by gel electrophoresis to produce a
unique DNA fragm
ent pattern. The same procedure is done several times with restriction enzymes,
making it nearly impossible for anyone else in the world would have the same set of patterns.
Advocates of DNA fingerprinting claim that identification is beyond a reasonable
Opponents of this technology, however, point out that it is not without its problems. Police or
laboratory negligence can invalidate the evidence. For example, during the O.J. Simpson trial, the
defense claimed that the DNA evidence was inadmiss
ible because it could not be proven that the police
had not planted over Jay's blood at the crime scene. There have also been reported problems with
sloppy laboratory procedures and the credibility of forensic experts. In addition to identifying
s, DNA fingerprinting can be used to establish paternity and maternity, determine nationality
for immigration purposes, and identify victims of a national disaster, such as the terrorist attack of
September 11, 2001.
Considering the usefulness of DNA fing
erprints, perhaps everyone should be required to contribute
blood to create a national DNA fingerprint data bank. Some say however this would constitute an
unreasonable search, which is unconstitutional.
Would you be willing to provide your DNA for a nati
onal DNA data bank? What types of pr
vacy restrictions would you want on your DNA?
If not everyone, do you think that convicted felons at least should be required to provide DNA
for a databank?
Should all defendants have access to DNA fingerprinting (at g
overnment expense) to prove that
they did not do a crime? Should this include those already convicted of crimes who want to r
open their cases using new DNA evidence?
Production of transgenic organisms
Recombinant plants and animals altered
of genes from other organisms
Farmers can kill weeds without killing crops
Scientists have removed gene for salt
inserted into tomato and canola plants
Transgenic plants survive, produce fruit,
salt from soil
Crops sprayed with genetically modified
tolerate mild freezes
Naturally occurring toxin only harmful to insects
Organic farmers used to reduce insect damage to crops
Gene for Bt toxin inserted into various crop plants
s in nutritional value and yield
Tomatoes allowed to ripen on vine and shelf
Gene for enzyme that breaks down pectin suppressed
BGH allows cattle to gain weight more rapidly,
Have meat with lower fat content and produce 10
carotene (vitamin A precursor
Scientists considering transplanting genes
entire metabolic pathways
The Ethics and Safety of Recombinant
humans are of greater value
term effects of transgenic manipulations are
Unforeseen problems arise from every new
technology and procedure
Natural genetic transfer could deliver genes from
transgenic plants and animals into other organisms
Transgenic organisms could trig
ger allergies or
cause harmless organisms to become pathogenic
Studies have not shown any risks
health or environment
Standards imposed on labs involved
Can create biological weapons using
Who should pay?
Genetic privacy rights?
Profits from genetically altered organisms?
Required genetic screening?
Forced correction of “genetic abnormalities”?
Are Genetically Engineered Foods Safe?
A series of focus groups
conducted by the Food and Drug Administration in 2000 showed that although
most participants believed that genetically engineered foods might offer benefits, they also feared
term health consequences that might be associated with the technolog
y. Some say that
when it comes to human and environmental safety, there should be clear evidence of the absence of
The discovery that a genetically engineered corn called Star Link had inadvertently made it into the food
supply triggered the recal
l of chocolate shells, tortillas, and many other corn
based foodstuffs from
supermarkets. Further, the makers of Star Link were forced to buy back Star Link from farmers and to
compensate food producers at an estimated cost of several hundred million doll
ars. Star Link is a type of
corn that contains
a foreign gene
taken from a common soil bacterium whose insecticidal properties have
long been known. About a dozen varieties of this corn, as well as potatoes and one variety of tomato, have
now been approv
ed for human consumption. These strains contain a gene for an insecticidal protein. The
makers of Star Link decided to use a gene for a related protein. They thought that using this molecule might
slow down the chances of pest resistance to the genetica
lly modified corn. In order to get FDA approval for
use in foods, the makers of Star Link performed the required tasks. Like the other now approved strains, star
Linked was not poisonous to rodents, and its biochemical structure is not similar to those o
f most food
allergens. However, it resisted digestion and longer than the other genetically modified proteins when it was
put in simulated stomach acid and subjected to heat. Because most food allergens are stable like this, star
Linked was not approved
for human consumption.
The scientific community is now trying to devise more tests for allergens because it has not been possible to
determine conclusively whether or not this second protein is an allergen. It is also unclear how resistant to
f protein must be in order to be an allergen, and it is also unclear what degree of sequence
similarity a potential allergen must have two unknown allergy and to raise concern. Therefore, it is not
understood yet where the thresholds are for sensitization
to food allergens and thresholds for the visitation of
a reaction with food allergens.
Other scientists are concerned about the following potential drawbacks to planting this variety of
genetically modified corn: resistance among populations of the targe
t past, exchange of genetic
material between the transgenic crop and related plant species, and crops impact on non
They feel that many more studies are needed before it can be said for certain that genetically modified
corn has no ecologi
Despite controversies, the planting of genetically engineered corn increased in 2001. The USDA
reports that US armors planted genetically engineered corn on 26% of all corn acres, 1% more than in
2000. In all, US farmers planted at least
72 million acres with mostly genetically engineered corn,
soybeans, and cotton. The public wants all of genetically engineered foods to be labeled as such, but
this may not be easy to accomplish because most corn meal is derived from both conventional and
genetically engineered corn. So far, there has been no attempt to sort out one type of food product from
Now that the human genome has been sequenced, researchers are using various means to discover
which sequencing differ
ences among people might forecast the possibility of a future disease. No
doubt, there are benefits to genetic profiling. For example, knowledge of your genes might indicate
your susceptibility to various types of cancer. This information could be used
to develop a prevention
program, including the avoidance of environmental influences associated with the disease. Also, you
would be less inclined to smoke if you knew your genes make it almost inevitable that smoking will
give you lung cancer. Are there
any reasons not to be in favor of genetic profiling?
People, however, worry that insurance companies and employers could use their genetic profile against
them. Perhaps employers will not higher, or insurance companies will not ensure, those who have a
propensity for particular diseases. The federal government and about 25 states have passed laws
prohibiting genetic discrimination by health insurers, and 11 have passed laws prohibiting genetic
discrimination by employers. The legislation states that ge
netic information cannot be released to
anyone without the subject’s permission. Is that such legislation enough to ally are fears of
discrimination? Might an employer not hire you or an insurance company not ensure you simply
because you will not grant
permission to access your genetic profile?
Say that two women are being considered for the same position, and each meets all the basic
requirements for the job. The first denies access to her genetic profile, while the second one grants
permission to l
ook at her genetic profile. Thinking that the first woman might have had something to
hide, employer hires a second one. The possibility that sick days may be needed by the first woman
makes the second woman a more cost
effective choice. People who have
genetic profiles proving they
are likely to be healthy in the future might even use them in order to have an advantage over those who
have profile showing that they are likely to develop serious illnesses in the future. In this way, we
might create a gen
Genetic information is sometimes misunderstood, particularly by laypeople. In the past, for example,
as an effort to combat sickle cell disease, many people were screened for it. Unfortunately, those who
were found to have the sickle tr
ait, and not the actual disease, experienced discrimination at school, or
from employers and insurance carriers. It is possible misunderstanding of the results enough not to do
genetic profiling, or do the potential benefits outweigh the risks?
On the ot
her hand, employers may fear that the government might use genetic information one day to
require them to provide an environment specific to every employee's need, in order to prevent future
illness. Would you approve of this, or should individuals be req
uired to leave an area or job that
exposes them to an environmental influence that could be detrimental to their health?
Some people believe that free access to genetic profiling data is absolutely essential to developing
better preventative care for all.
If researchers can match genetic profiles to the environmental
conditions that bring on illnesses, they could come up with better prevention guidelines for the next
generation. Should genetic profiles and health records become public information under t
circumstances? It would particularly help in the study of complex diseases, such as cardiovascular
dependent diabetes, and juvenile rheumatoid arthritis. Perhaps there would be
some way to protect privacy and still make the in
If present legislation to protect privacy is inadequate, what can be done to truly keep such information
private? Should the information be coded in some way, so that only the medical profession can read it?
Should people be responsible
for keeping the only copy of their profiles, which would be coded so that
even they cannot read it? Or, do you believe that anyone should have access to anyone's profile, for
Should people be encouraged or even required to have their DN
A analyzed so that they can d
velop programs to possibly prevent future illness?
Should employers be encouraged or required to provide an environment suitable to a person's
genetic profile? Or should the individual ovoid a work environment that could brin
g on an il
How come we balance individual rights with the public health benefits of matching genetic pr
files to detrimental environments?
Potent chemicals derived from exotic animals are yielding a range of
One creature you don't want to stumble upon it in a dark forest is a hungry vampire bat. The 3 inch
long, pointy eared night stalker has an anti
clotting substance and its saliva that allows it to dine on an
unending flow of its victim’s blood
. There is, however, one group of people that may come to see the
vampire bats as lifesavers. They are stroke patients to desperately need improved clot
that prevent brain damage and paralysis by restoring blood flow to stroke ravaged tissu
That's the idea behind a new drug that 15 US hospitals will soon begin testing. It's a synthetic copy of
an enzyme bats secrete when they salivate over freshly bitten gray. Stroke experts are already buzzing
because early studies in mice suggests pa
tients may be able to safely receive the bat spit up to nine
hours after they've had a stroke. The only clot
busting drug now on the market must be given within
Bats are not the only scary animals that may someday contribute to the world's e
cabinet. Scientists are studying everything from Gila monsters to scorpions to copperhead snakes. The
toxins these creatures use to kill their prey or ward off foes hold seemingly boundless potential to treat
human diseases ranging from
diabetes to brain cancer. Refined through millions of years of evolution,
these substances found in animal saliva, then um, and, in some internal organs homed in on targets such
as nerve cells better than most chemical combination's scientists concoct.
they circulate in
the body for hours on end.
Still, turning Mother Nature’s toxins into life
saving drugs can be harder than killing a Python with a
pebble. First, researchers must isolate, analyze, and synthesize specific compounds in such a w
they can be tolerated by humans and mass produced. The risk of failure is so high that many
pharmaceutical companies shun poison derived experimental drugs until they are well past the
developmental stage. That leaves scientists dependent upon sc
arce venture capital and public funding.
Scientists are also racing against a biological clock. Species identified to date may represent just 1/10
of the biological diversity on earth. And potentially therapeutic creatures are vanishing at
rates. Although the vampire bat is not endangered, 13 other bat species are. The natural
world is the largest pharmaceutical factory we have, and a lot of potential benefit is being lost.
Drugs like the synthesized
at spit can earn attractive returns.
An anticoagulant derived from leach
saliva pulled in an estimated $38 million last year. And a hypertension drug derived from the venom of
the South American viper drew more than $1 billion in annual sales before the compounds became
available in generi
c form in the mid
Many animal poisons have the ability to hit specific bull’s
eyes in the body. One species of snail, for
example, injects its prey with a poison that paralyzes nerve cells. The tiny Ecuadorian Poison Dart
Frog secretes a skin tox
in that keeps predators at bay. Both substances block pain signals to the brain
and have led to experimental pain medications that could be as potent as morphine but with no risk of
addiction. The poison in puffer fish has also been found to ease the pai
n of heroin withdrawal and
For sheer horror, nothing matches staining of the 8 inch giant yellow Israel scorpion. It packs
neurotoxins that can cause excruciating pain. Yet at least one of the hundreds of proteins involved in
that process also h
as the ability to seek out and find to a receptor that is abnormally expressed on the
surface of brain tumor cells but not on normal selves.
Last year, to cancer centers began testing a copy of the protein that was developed from this toxin. The
researchers compared the synthesized protein with a radioactive isotope and injected it into the brains
of clinical trial patients suffering from a cancer called glioma. In the brain, they believe, the drug
travels straight to the tumors and kills them wi
thout damaging nearby healthy cells. It's like a guided
Exotic animals and their secretions don't necessarily have to be lethal to help humans. One
pharmaceutical company hopes to obtain food and drug administration approval for a diabetes drug
derived from a hormone that
monsters secrete while munching on mice, bird eggs, and other
favorite foods. This substance mimics the human hormone that regulates insulin, which in turn
controls blood sugar. But unlike the human molecule, which is qu
ickly degraded by enzymes in the
body, the lizard version sticks around for hours. And it helps the body regenerate insulin making cells.
This can take us to new levels of blood sugar control.
Despite the promise of animal
based drugs, the path from the
rain forest to the FDA is rough with
pitfalls. For many companies, the biggest challenge has been figuring out how to develop and produce
chemical copies of naturally occurring substances. A professor at the University of Southern California
School of m
edicine in has been developing a cancer drug based on the venom of the Southern
copperhead snake. With a shoestring budget from public grants, he managed to coax mammalian cells
to make copies of the venom protein. But it will be at least a year before a
drug is ready for human
Emerging technologies should help speed the discovery and development of exotic drugs.
Computerized screening systems, for example, allow researchers to test experimental compounds
against thousands of potential disease
targets simultaneously. That's important because science has
barely scratched the surface of nature’s therapeutic potential. There are 10 million organisms out there
waging chemical warfare against each other; the abundance of possible drugs
The problem is that many of these potential remedies are disappearing before they are even spotted.
Half of the world's plants and animals live in tropical forests, and most of these species are still
unknown. At the current rate of forest
destruction, two thirds of land dwelling plant and animal species
will be extinct by the end of this century.
The urgency of preserving nature's bounty is not lost on patients like Duane Rualo. The 24
accounting student at Cal State Long Beach wa
s diagnosed with glioma in late 2001 and told he
probably would not live long enough to make it to his fall 2003 graduation. After surgery and several
shots of scorpion venom, his latest brain scan came up clear of cancer. His doctors can't say yet how
mportant the scorpion has been to his recovery. But these days, Rualo pauses when he comes across a
scorpion exhibit at a zoo. “I stop and think:’ Wow, they may have saved my life’”, he says. And who
knows what other life
saving drugs may be lurking beyo
nd the scorpions layer, the
burrow, and the bats caves?
New Cures on the Horizon
Now that we know the sequence of the bases in the DNA of all the human chromosomes, biologists all
over the world believe this knowledge will result in rapid
medical advances for ourselves and our
First prediction: Many new medicines tailored to the individual will be available.
Most drugs are proteins or small chemicals that are able to interact with proteins. Today's drugs were
in a hit or miss fashion, but now researchers will be able to take a more systematic
approach to finding effective medicines. In a recent search for a menace and that makes wounds heal,
researchers cultured skin cells with 14 proteins that can cause skin
cells to grow. Only one of these
proteins actually made skin cells grow and did nothing else. They expect this protein to become an
effective drug for conditions such as venous ulcers, which are skin lesions that affect many thousands
of people in the Un
ited States. Tests leading to effective medicines can be carried out with many more
proteins that scientists will discover by examining the human genome.
Many drugs potentially have unwanted side effects. Why do some people and not others have won or
re of the side effects? Most likely, this is because people have different genetic profiles. It is
expected that a physician will be able to match patients to drugs that are safe or them on the basis of
their genetic profiles.
One study found that vario
us combinations of mutations can lead to the development of asthma. A
, called albuterol, is effective and safe for patients with certain combinations of
mutations and not others. This example and others showed that many diseases are m
that only a genetic profile is able to detect mutations are causing an individual to have a disease and
how it should be properly treated.
Second prediction: A longer and healthier life will be yours.
embryonic gene therapy may beco
me routine once we discovered the genes that contribute to a
longer and healthier lives. We know that the presence of three radicals causes cellular molecules to
become unstable and cells to die. Certain genes are believed to code for antioxidant enzymes
detoxify free radicals. It could be that human beings with particular forms of these genes have more
efficient antioxidant enzymes, and therefore live longer. If so, researchers will no doubt be able to
locate these genes and also others that promo
te a longer, healthier life. Perhaps certain genetic profiles
allow some people to live far beyond the normal lifespan. Researchers may be able to find which
genes allow individuals to live a long time and to make them available to the general public. T
many more people would live longer and healthier lives.
Third prediction: You will be able to design your children.
Genome sequence data will be used to identify many more mutant genes that cause genetic disorders
than are presently known. In the
future, it may be possible to cure genetic disorders before the child is
born by adding a normal gene to any egg that carries a mutant gene. Or an artificial chromosome,
constructed to carry a large number of corrective genes, could automatically be place
d in eggs. In vitro
fertilization would have to be utilized in order to take advantage of such measures for current genetic
disorders before conception.
Genome sequence data can also be used to identify genes for traits such as height, intelligence, or
ehavioral characteristics. A couple could decide on their own which genes may wish to use to
enhance a child's phenotype. In other words, the sequencing of the human genome may bring about a
genetically just society, in which all types of genes would be
accessible to all parents.