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Age-related macular degeneration

Age-related macular degeneration is an eye condition which can develop with age, affecting the central area of the retina (the macula) and causing loss of vision, often in both eyes. In dry AMD the cells of the macula are damaged by fatty deposits, while in wet AMD abnormal blood vessels form beneath the macula and damage the cells.

Severe combined immunodeficiency

A very rare genetic disorder causing children to be born without an effective immune system, so they are extremely vulnerable to any form of infection.

 

Trophoblast stem cells

Stem cells which lead to the development of the placenta, not the embryo itself.

Monoclonal antibodies

Antibodies all made from a single clone of specialist cells used in both medical diagnostics and treatments

embryonic stem cells

Embryonic stem cells (ESCs) are undifferentiated, pluripotent cells derived from the inner mass of an early embryo at the blastocyst stage

Sickle cell anaemia

A recessive genetic disorder which affects the structure of the haemoglobin and so the shape of the red blood cells.

 

Sickle cell anaemia

An inherited blood disease in which the red blood cells contain an abnormal type of haemoglobin.

Muscular dystrophy

This is an inherited condition which leads to the progressive weakening and breakdown of muscles. This in turn leads to increasing levels of disability. In its most severe forms it can be fatal.

Markers of disease

Substances or measurable signs which can be used to identify a particular condition or the severity of a condition in an individual.

Red blood cells

Carry oxygen in the blood. They are also known as erythrocytes.

Cystic fibrosis

A genetic disease caused by a defective, recessive gene. It is characterised by the production of thick, sticky mucous in the lungs and pancreas which cause respiratory and digestive problems.

Type 1 diabetes

Develops when the body does not produce the right amount of insulin or, in some cases, does not produce any at all. It must be treated with daily injections of insulin. People affected also need to manage their diet, eat regularly and plan exercise carefully to balance their energy needs with their food and insulin intake.

Anticoagulant

Medicines which reduce the risk of the blood clotting.

DNA sequencing

DNA sequencing is the process of working out the precise sequence of nucleotides within a strand of DNA

Nanoparticles

Very small particles which are less than 10nm in diameter

Heart failure

When the heart fails to pump blood effectively round the body as a result of the weakening or stiffening of the cardiac muscle or as a result of damaged heart valves.

Gene therapy

A new, experimental method of fighting disease by replacing a defective gene with a healthy gene

Gene editing

A relatively new alternative term for genetic engineering, also known as genome editing.

Human genome

The complete sequence of all 20,000-25,000 human genes. That is, which chromosomes they are in and whereabouts the gene appears on that chromosome's piece of DNA.

CRISPR-Cas9

A genome editing tool, based on a bacterial system, which provides a precise, fast and relatively cheap method for manipulating the genome of an organism.

Cholesterol

A lipid which can be measured in the blood. High levels are linked to an increased risk of cardiovascular disease

Bone marrow

Found in the centre of bones, it contains adult stem cells which divide and differentiate to produce red and white blood cells

Antibiotic

Medicine that acts against bacterial infections. Penicillin is an example of an antibiotic.

Nanometre

0.001μm

Pathogen

A micro-organism that causes disease.

Rejection

The process by which the immune system of the body can reject a transplanted organ

Diabetes mellitus

A disease resulting from a lack of insulin production by the pancreas or a loss of the cell response to insulin that causes a loss of control of the glucose balance of the body.

Bacteria

Single-celled organism. Has a cell wall, cell membrane, cytoplasm. Its DNA is loosely-coiled in the cytoplasm and there is no distinct nucleus

Mutation

A change in the arrangement or amount of genetic material in a cell.

Insulin

A hormone produced by the pancreas. It allows cells in the body to take in and store glucose.

Embryo

The name for a group of cells that are developing into a fetus. In humans this is from implantation to the 8th week of development

Tissue

A group of cells in an organism that are specialised to work together to carry out a particular function.

Cancer

A mass of abnormal cells which keep multiplying in an uncontrolled way.

Cell

The basic unit from which all living organisms are built up, consisting of a cell membrane surrounding cytoplasm and a nucleus.

Gene

A short piece of DNA which is responsible for the inheritance of a particular characteristic. It codes for the production of a specific protein. Genes occupy a fixed position, called a locus, on a particular DNA molecule.

hESC

These are pluripotent stem cells which originate from the inner cells of an early (before implantation) human embryo known as the blastocyst.

iPSC

These are induced pluripotent stem cells which are produced from differentiated adult cells.

Tuberculosis

A communicable disease caused by bacteria. It affects millions of people around the world and can be cured by antibiotics, but increasingly the pathogenic bacteria are becoming resistant to the most widely used antibiotics.

 

What is biotechnology?

Biotechnology has been around for centuries as people have used microorganisms to make beer, wine, bread, yoghurts and cheeses. But since the beginning of the 20th century, the nature of biotechnology has changed dramatically.

Genetic Engineering

One area of biotechnology which everyone has heard of is genetic engineering. We now have genetically modified organisms ranging from bacteria to cows and sheep which produce life saving medicines including vaccines, insulin and blood-clotting factors. Genetically modified bacteria can even make the lung surfactant needed to save the life of a premature baby. Hundreds of thousands of people benefit from the chemicals these very special organisms produce.

This baby girl, born unexpectedly early at 30 weeks, needed synthetic lung surfactant to help her breathe when she was born. It saved her life - and she went home 5 weeks later
(Anthony Short)

Recent developments include CRISPR-Cas9, a genome editing tool which is faster, cheaper and – most importantly – more accurate than our earlier techniques for modifying genes. This makes it easier to change the genome in cells with a mutation preventing them from carrying out their normal function. It also allows us to manipulate the genomes of bacteria more efficiently so they make chemicals we can use in human medicine.

These developments mean we are closer than ever to using gene editing to treat conditions from cancer and diabetes to high cholesterol levels. In 2017 scientists announced that they had treated a boy severely affected by sickle cell anaemia, genetically modifying his bone marrow and replacing it. For 15 months this modified bone marrow has replicated and made healthy red blood cells, allowing the boy to live a normal life without medication. If this continues, scientists will have developed a cure for a genetic condition which affects millions of people worldwide.

Sequencing DNA

The polymerase chain reaction has enabled scientists to make large quantities of DNA from tiny samples. This in turn has made much of the most recent and exciting DNA technology possible. The ability to sequence the human genome, identifying genes and what they do, and DNA fingerprinting and its amazing role in solving crimes all depend for their success on the polymerase chain reaction.

Amazingly, the polymerase chain reaction which underpins modern work on genomics depends on enzymes which originated in extremophiles living in hot springs
(Anthony Short)

The Human Genome Project, which sequenced the whole of the human DNA for the first time, and the follow-up 1000 Genomes Project, have been massive international efforts of biotechnology. The 100,000 Genome Project is an English venture, sequencing 100,000 genomes from NHS patients with rare disease and their families, and patients with cancer. The results of all these projects help us understand the mechanisms of disease at a genetic level. They are also being used to develop personalised medicines which are designed to work effectively with individual genomes. Information from DNA sequencing helps us design very specifically targeted pharmaceutical molecules. These will provide better treatments which could probably be given at lower doses. What is more, these new medicines are likely to have relatively few side effects because they will work with our individual genetic makeup rather than against it.

Sequencing the DNA of the pathogens which cause infectious diseases is also opening up many new possibilities for effective therapies. Bacterial genomes can now be sequenced in under a day. This technology is already being used to identify strains of TB-causing bacteria and ensure the most effective antibiotic is used, as well as for tracking down the sources of hospital-acquired infections in premature babies. In the future, pathogen sequencing may change the way we tackle many infectious diseases.

Overcoming genetic disease

Knowledge of the human genome is also making it easier to test for genetic diseases. Gene probes have been developed to test for known genetic disorders. What’s more, as our understanding of the human genome increases we are finding out more about our genetic tendency to develop diseases like cancer and heart disease. Diagnostic tests for mutations which give rise to conditions ranging from high blood cholesterol levels to cystic fibrosis have been developed, and many more are in the pipeline. This in turn will help us to make lifestyle plans to help us remain healthy – choosing our diets, our exercise levels and our jobs to make sure we avoid situations our genes are not well equipped to cope with.

Gene therapy is another area of medical biotechnology which is still in the early stages of development. The hope is that gene technology such as CRISPR-Cas9 will help scientists develop ways to correct mistakes in the DNA code which lead to genetic diseases such as severe combined immunodeficiency (SCID), Duchenne muscular dystrophy and cystic fibrosis.

Diagnosis and treatments

Medicine also benefits from many sensitive tests which indicate the presence or absence of substances in body fluids. Biotechnological advances in the use of immobilised enzymes and monoclonal antibodies mean these tests have become increasingly rapid and accurate in recent years. A common example is a pregnancy test. It used to take weeks – now it can be done at home on the first day of a missed period and the results are ready in minutes!

Diagnostic test for malaria
(USAID)

Many of the new tests lead to either improved diagnosis, improved treatments – or both. Examples include:

  • a test for a mutation in the CYP2C9 gene which affects how people break down anticoagulants such as warfarin - the test means people can be treated with the appropriate dosage without risk of haemorrhage
  • tests for specific pathogens/infections eg measles, meningococcal diseases, pneumococcal diseases, chlamydia and TB
  • tests for markers of disease which impact on the medicine used for treatment, for example CD4, creatine clearance and tropism assays for people who are HIV positive.

Cloning

Cloning – making genetically identical copies of an organism – is not new biotechnology. Gardeners and farmers have been cloning plants for centuries. The new developments which have caused much controversy involve the cloning of mammals, from sheep to pigs to humans. The technology holds out many exciting possibilities for producing herds of genetically modified animals making useful medicines in their milk. There is also the very real possibility of producing new tissues for transplantation which would not cause any rejection problems – because they would be cloned from the patient themselves. But there are some real concerns about the ethics of this work and society is still deciding what is the right way to go.

Stem cell research

More controversial developments in biotechnology involve research into the use of stem cells. Embryonic stem cells are taken from the ball of cells which makes up the early human embryo. They have the potential to grow and develop into new tissues or organs to replace others which are worn out or diseased. The use of human embryos means that it is also, for some people, very controversial.

Another alternative is the use of stem cells taken from adults. They cannot form as many tissues as embryonic stem cells and are harder to find and grow, but there are fewer ethical issues about using them. This area of biotechnology is still at a very early stage but the potential for medical advances is enormous.

Trials using both iPSC (induced pluripotent stem cells) and hESC (human embryonic stem cells) are taking place in countries around the world, looking at potential cures for diseases ranging from sickle cell anaemia and wet and dry age-related macular degeneration, to forms of muscular dystrophy, severe heart failure and type 1 diabetes.

Scientists have even managed to create artificial mice embryos using two different types of stem cells – embryonic stem cells and the extra-embryonic trophoblast stem cells which form the placenta - within an artificial 3-D scaffolding. They grew the embryos for 14 days. The next challenge is the production of artificial human embryos, which may be used for research into why some early embryos fail to implant or result in early miscarriage.

Embryonic stem cells – hopefully the source of many potential treatments for the future
(Eleanor Robinson)

Nanotechnology

Nanotechnology involves particles or objects which are 1-100 nanometres in size (1 nm = 10-9 m). Nanoparticles have huge potential - the combination of nanoparticles with biological molecules is proving a very powerful technology in medicine, in agriculture and in food technology.

In medicine, nanotechnology is finding many uses in diagnostics – for example, gold nanoparticle tags can be attached to probes to identify sequences of DNA. They can be used to deliver drugs to target cells extremely efficiently and accurately. This reduces side effects and medicine wastage – and the nanoparticles are harmless to the body. There are also exciting developments using nanoparticles in tissue engineering, using them as scaffolding to encourage the growth of new tissues.

In agriculture potential uses for nanotechnology include increasing the uptake of minerals or water from the soil by plants, diagnosing plant diseases, providing protection from pests and delivering medicines or vaccines to farm animals. And in the food industry, applications of nanotechnology ranging from flavour enhancement and food preservation to tests for contamination are being investigated and trialled right now.

Exam style questions

1. Which of the following processes is NOT an example of biotechnology?
cheese making
genetic engineering
polymerase chain reaction
the Haber process
cheese making
(The correct answer is:
'the Haber process')
genetic engineering
(The correct answer is:
'the Haber process')
polymerase chain reaction
(The correct answer is:
'the Haber process')
the Haber process
null
(The correct answer is:
'the Haber process')
2. What is the polymerase chain reaction?
a method of making proteins in the laboratory
a method of amplifying DNA, making large quantities from tiny samples rapidly
a method of sequencing the DNA to identify genes
a method of developing new medicines
a method of making proteins in the laboratory
(The correct answer is:
'a method of amplifying DNA, making large quantities from tiny samples rapidly')
a method of amplifying DNA, making large quantities from tiny samples rapidly
a method of sequencing the DNA to identify genes
(The correct answer is:
'a method of amplifying DNA, making large quantities from tiny samples rapidly')
a method of developing new medicines
(The correct answer is:
'a method of amplifying DNA, making large quantities from tiny samples rapidly')
null
(The correct answer is:
'a method of amplifying DNA, making large quantities from tiny samples rapidly')

3. Cloning is the production of genetically identical copies of an organism, what are some possible uses of this technology?

There are many exciting uses for cloning technology. One promising use is producing new tissues for transplantation; this would not cause any rejection problems, as the tissue would be cloned from the patients themselves.

4. Gene therapy is a type of biotechnology with the potential to allow patients to overcome genetic disease. What are some examples of genetic diseases?

Severe combined immunodeficiency (SCID), Duchenne muscular dystrophy, cystic fibrosis.

5. What size are nano-particles used in nanotechnology?
1 nm = 10-9 m
1 nm = 10-8 m
1 nm = 10-3 m
1 nm = 10-6 m
1 nm = 10-9 m
1 nm = 10-8 m
(The correct answer is:
'1 nm = 10-9 m')
1 nm = 10-3 m
(The correct answer is:
'1 nm = 10-9 m')
1 nm = 10-6 m
(The correct answer is:
'1 nm = 10-9 m')
null
(The correct answer is:
'1 nm = 10-9 m')