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What is a genome?

A genome is an organism’s complete set of genetic instructions. Each genome contains all of the information needed to build that organism and allow it to grow and develop.

In the Cell

Career profile: engagement officer

In this career profile, Sam describes their role as a Community Engagement Officer. This is one of a series of career profiles exploring lots of different jobs in genomics.

Careers

What is a cell?

All living things are made of cells. They are the basic building blocks of life. The human body is composed of trillions of cells, all with their own specialised function.

In the Cell

What is a chromosome condition?

A chromosome condition results from a change in the number or structure of chromosomes.

Health and Disease

What is RNA?

RNA is a nucleic acid similar to DNA, but with only a single, helical strand of bases. It plays a key role in turning DNA instructions into functional proteins.

In the Cell

The discovery of DNA: the first building blocks

The discovery of DNA marked a milestone in our understanding of the natural world. In the mid nineteenth century scientists made the initial discoveries uncovering an important chemical in the nucleus of cells.

Methods and Technology

Genomics Lite: Genomic cartography - Navigating with a human cell atlas

Our guest speakers for our April Genomics Lite were Dr. Laure Gambardella and Dr. Chloe Admane, Senior Staff Scientist and Visiting Scientist respectively, at the Wellcome Sanger Institute, exploring the world of stem cells.

In the Cell

Recreate a Face

Discover how DNA can provide clues to recreate the faces of people from the past.

Science in Society

Genomics Lite: Genomic cartography - Generating a human cell atlas

Our guest speakers for our March Genomics Lite were Dr. Elena Winheim and Feri Torabi, Postdoctoral Researcher and a Advanced Research Assistant respectively, at the Wellcome Sanger Institute, exploring how they are working towards generating a map of all the cells in the human body.

In the Cell

What is gene therapy?

Gene therapy is when DNA is introduced into a patient to treat a genetic disease. The new DNA usually contains a functioning gene to modify the effect of a mutated gene that’s causing a disease.

Health and Disease

What is a gene?

Genes are small sections of DNA that code for a functional product, like a protein.

In the Cell

What is genetic counselling?

Genetic counsellors are health professionals who help people faced with the possibility of a genetic disease to make informed decisions about their futures.

Careers

Science For Everyone Primary Resources

Discover primary science activities to help students explore everyday science and highlight a diverse range of scientists.

Careers

My career in genomics: cellular operations

In this film Jade Smith talks about her role as an advanced research assistant working in cellular operations. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: bioinformatics

In this film Tobi Alegbe discusses his PhD in bioinformatics, studying Crohn’s disease. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: genetic counselling

In this film, Sasha Henriques talks about her career as a genetic counsellor. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: cell biology

In this film Lucy Holland describes her role as a higher laboratory scientist apprentice working in a cell biology laboratory. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: data science

In this film Georgia Whitton talks about her job as a senior data scientist working in the genomic surveillance unit. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: conservation genetics

In this film Edel Sheerin describes her role as an advanced research assistant working in the field of conservation genetics. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: career profiles

Explore the diversity of career pathways into genomics through this collection of career profiles

Careers

My career in genomics: compliance manager

In this film, Rachel introduces her role in compliance and her background in law and science. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: management trainee

In this film, Jessica talks about her diverse and varied role as a management trainee. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: product manager

In this film, Joshua describes his role as a product manager. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: scientific communications

In this film, Leonie talks about her career in scientific communications as part of the COSMIC team. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: illustrator and graphic designer

In this film, Laura introduces her creative and varied role creating scientific illustrations, designs and data visualisations. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: learning and development lead

In this film, Sarah discusses her role as a learning and development professional in HR. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: cancer biology

In this film Niki Patel talks about her research looking at the genetics of cancer. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: immune diseases

In this film Gosia Trynka talks about her research looking at the effect of genetic changes on the immune system. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: evolution

In this film Roland Schwarz talks about his research using computers to model and understand evolution. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

My career in genomics: antibiotic resistance

In this film Christine Boinett talks about her research looking at antibiotic resistance in bacteria. This is one of a series of films providing a unique insight into different careers in the field of genomics.

Careers

Life in the Lab: working in DNA sequencing pipeline

This film follows Louise Aigrain, a senior staff scientist, in her life in a DNA sequencing pipeline lab. This is one of a series of films exploring Life in the Lab.

Careers

Life in the Lab: working with human gut microbiota

This film follows PhD Student Hilary Browne in his life in a microbiology lab. This is one of a series of films exploring Life in the Lab.

Careers

Life in the Lab: working in a malaria lab

This film follows Alena Pance, a senior staff scientist, in her life in a malaria lab. This is one of a series of films exploring Life in the Lab.

Careers

Life in the Lab: working in a malaria genome modification pipeline

This film follows senior computational biologist Frank Schwach in his life in a malaria lab. This is one of a series of films exploring Life in the Lab.

Careers

Mitosis versus meiosis

Cells divide and reproduce in two ways, mitosis and meiosis. Mitosis results in two identical daughter cells, whereas meiosis results in four sex cells. Below we highlight the key differences and similarities between the two types of cell division.

In the Cell

What is meiosis?

Meiosis is a process where a single cell divides twice to produce four cells containing half the original amount of genetic information.

In the Cell

What is mitosis?

Mitosis is a process where a single cell divides into two identical daughter cells (cell division).

In the Cell

Timeline: History of Genomics

Explore key events in genomics and genetics research alongside those in historical and popular culture.

Science in Society

The Human Genome Project

The Human Genome Project was a large, international project that generated the first sequence of the human genome.

Methods and Technology

What is genome editing?

Genome editing is a way of making specific changes to a cell or organism’s DNA – such as adding, removing or altering the DNA sequence. This can be used to change the cell or organism’s characteristics.

Methods and Technology

What is DNA sequencing?

DNA sequencing is the process of working out the exact order of the four chemical building blocks – called bases – in a section of DNA.

Methods and Technology

What are infectious diseases?

Infectious diseases are caused by microorganisms such as viruses, bacteria, fungi or parasites and can spread between individuals.

Health and Disease

What is genetic testing?

Genetic testing looks for changes and variations in DNA that could put a person at higher risk of a genetic condition.

Health and Disease

What is a genetic condition?

A genetic condition is usually a medical condition or illness, caused by a change in a person’s DNA sequence.

Health and Disease

What is inheritance?

Inheritance is the way that genetic information is passed from a parent to a child.

In the Cell

What is a mutation?

A mutation is a change that occurs in our DNA sequence. This can be caused by normal processes inside the cell or by environmental factors, such as UV light.

In the Cell

How is DNA turned into protein? The Central Dogma of Molecular Biology

The ‘Central Dogma of Molecular Biology’ is a model describing the way information stored in our DNA is converted into a functional product, such as a protein. It was first proposed in 1958 by Francis Crick, who co-discovered the structure of DNA.

In the Cell

What is a chromosome?

Chromosomes are tightly coiled bundles of DNA found in the nucleus of almost every cell in our body.

In the Cell

What is DNA?

DNA is the long molecule that contains your unique genetic code. A bit like a recipe book, it holds the instructions your cells need to make all the proteins in your body.

In the Cell

Extracting DNA from fruit

This hands-on activity allows you to extract the DNA from fruit using household items.

In the Cell

How is genomics being used to tackle neglected tropical diseases?

Neglected tropical diseases are a group of 20 conditions that are most common in tropical regions of the world and mainly affect people already living in poverty.

Health and Disease

Genomics Lite: Genetic alchemy

Our guest speaker for this session was Dr. Nneka Anyanwu, Head of Gene Editing at the Wellcome Sanger Institute, exploring how gene editing is transforming the genome.

Methods and Technology

What is shotgun sequencing?

Shotgun sequencing is a way of assembling a long fragment of DNA (such as a gene, a chromosome or even a whole genome) from shorter sequencing reads. It’s sometimes called whole genome shotgun sequencing.

Methods and Technology

What are BAC libraries?

Bacterial Artificial Chromosome (BAC) libraries are used alongside clone-by-clone sequencing – a way of assembling a long fragment of DNA (such as a gene, a chromosome or even a whole genome) from shorter sequencing reads.

Methods and Technology

What is clone-by-clone sequencing?

Clone-by-clone sequencing is a way of assembling a long fragment of DNA (such as a gene, a chromosome or even a whole genome) from shorter sequencing reads.

Methods and Technology

What was the 454 method of DNA sequencing?

In 2005, 454 Life Sciences launched the first next-generation DNA sequencer – a big leap forward in DNA sequencing technology that made it possible to sequence many samples simultaneously.

Methods and Technology

Small Experimental Mouse Is On The Laboratory Researcher's Hand

Genomic conversations: animals in biomedical research

How do you feel about animals being used in biomedical research? In this conversation page, we’ll explore how animals are used in biomedical research - including some of the benefits and limitations and what the future may hold.

Science in Society

Genomic conversations: whole genome sequencing of babies from birth

How do you feel about sequencing the whole genome at birth? In this conversation page, we’ll explore the use of whole genome sequencing in newborn babies – including some of the benefits, risks and what the future may hold.

Science in Society

Genomic conversations: direct-to-consumer genetic testing

Have you ever wanted to know more about your genetic make-up? In this conversation page, we’ll explore direct-to-consumer genetic testing – including some of the benefits and limitations of these tests and what the future may hold.

Science in Society

Veterinarian,Holding,Dry,Food,In,Granules,In,Hands,And,Offering

Genomic conversations: genetically editing animals for agriculture

How do you feel about the genetic editing of farm animals, such as chickens, sheep, pigs and cows? In this conversation page, we’ll explore the role of genetic editing in agriculture – and some of the benefits, risks and what the future may hold.

Science in Society

Genomic conversations: animals in conservation and biodiversity research

How do you feel about the use of animals in biodiversity research – such as species conservation, biodiversity monitoring or evolutionary studies? In this conversation page, we’ll explore how animals are used in biodiversity research – including some of the benefits and risks and what the future may hold.

Science in Society

What is Sanger Sequencing?

The Sanger sequencing method enabled scientists to read the genetic code for the first time.

Methods and Technology

Using genomics to understand malaria

Sequencing the genome of the malaria parasite has revealed interesting clues as to how it is able to evade the human immune system for long enough to cause disease.

Health and Disease

Types of genome sequencing

We often refer to genome sequencing as part of the Human Genome Project, which read the entire human genome – but it can be used for whole genomes, right down to very specific areas of DNA.

Methods and Technology

What is the Illumina method of DNA sequencing?

Illumina sequencing launched in 2006, allowing scientists to sequence 1 million bases of DNA in one single run.

Methods and Technology

Genomics Lite: What is a gene?

Our guest speaker for this Genomics Lite is Zachary Ardern a Research Fellow at the Wellcome Sanger Institute, exploring what we still don't know about genes.

In the Cell

Genomics Lite: Exploring genome function

Our guest speaker for this session was Gareth Girling, a technical specialist at the Wellcome Sanger Institute, exploring what we know so far about the human genome.

In the Cell

Genomics Lite: Drug targets to validation

Our guest speakers for this session were Salman Tamaddon-Jahromi and Xiangyu (Jack) Ge, an Advanced Research Assistant and a Statistical Geneticist respectively at Open Targets, exploring the drug development process.

Health and Disease

The evolution of genome editing tools

Genome-editing tools have evolved since the 1980s, enabling scientists to make increasingly precise edits to a genome.

Methods and Technology

How is genomics being used to tackle Guinea worm disease?

The Guinea worm – also known as the little dragon, or Dracunculus medinensis – is a water-transmitted parasite that develops over a year in its host before painfully emerging from the skin.

Health and Disease

How is genomics being used to tackle leishmania?

Leishmaniasis is a neglected tropical disease caused by protozoan parasites called Leishmanias, which are transmitted to humans by the bite of infected sandflies.

Health and Disease

How is genomics being used to tackle schistosomiasis?

Schistosomiasis is a neglected tropical disease caused by a parasitic worm. It’s transmitted through contact with fresh water that has been contaminated with the parasite’s larvae.

Health and Disease

What is a complex disease?

Many common diseases are influenced by a combination of multiple genes and environmental factors. These diseases are referred to as complex diseases.

Health and Disease

What is African sleeping sickness?

African Trypanosomiasis is a parasitic disease transmitted by the tsetse fly. It’s dubbed ‘sleeping sickness’ because symptoms can include a disturbed sleep pattern.

Health and Disease

What are helminths?

Helminths are worm-like parasites that survive by feeding on a living host to gain nourishment and protection, sometimes resulting in illness of the host.

Health and Disease

What is schistosomiasis?

Schistosomiasis is a tropical disease caused by a parasitic worm. It’s transmitted through contact with fresh water that has been contaminated with the parasite’s larvae.

Health and Disease

The dawn of DNA profiling: the ‘eureka’ moment that revolutionised crime solving

In 1984, Alec Jeffreys developed the technique of DNA fingerprinting in his laboratory at the University of Leicester. These techniques have revolutionised the way that the police solve crimes.

Methods and Technology

Using phylogenetics to track disease outbreaks

Phylogenetics is the study of the evolutionary relationships between organisms, based on their genomes - now used to track down disease outbreaks globally.

Health and Disease

Personal genomics: the future of healthcare?

Personal genomics sequences and analyses an individual’s genome, before giving them detailed information about their genomic makeup.

Health and Disease

Leaps forward: lessons learned from the clawed frog

Without the African clawed frog, our understanding of early development would not have progressed to where it is today.

Methods and Technology

Tiny fish, big splash: the story of the zebrafish

The tropical zebrafish (Danio rerio) is a relatively new addition to the suite of model organisms used by researchers to better understand biology.

Methods and Technology

Fruit flies in the laboratory

The fruit fly, or Drosophila melanogaster, has the longest history in genetics and research out of all the model organisms.

Methods and Technology

C elegans: the early worm gets the sequence

Since the emergence of the nematode worm as a model organism in the 1960s, it’s helped to unlock important information and unravel mysteries of biology.

Methods and Technology

Giants in genomics: Robert Waterston

Robert Waterston is an American biologist well known for his work on sequencing the genome of the nematode worm alongside John Sulston. He is also recognised for his part in sequencing the human, mouse and chimpanzee genomes.

Methods and Technology

Giants in genomics: Francis Crick

Francis Crick was the co-discoverer of the double helix structure of DNA. For this fundamental finding Francis, James Watson and Maurice Wilkins were awarded the Nobel Prize for Physiology or Medicine in 1962.

Methods and Technology

Giants in genomics: Francis Collins

Francis Collins led the Human Genome Project from 1993. He was also responsible for discovering the genes mutated in cystic fibrosis and Huntington’s disease.

Methods and Technology

Giants in genomics: Allan Bradley

Allan Bradley was director of the Wellcome Trust Sanger Institute from 2000 to 2010. His appointment as director coincided with the completion of the draft human genome sequence by the Human Genome Project.

Methods and Technology

Giants in genomics: Eric Lander

Eric Lander is the founding director of the Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard. He was one of the leaders of the Human Genome Project and he has developed important tools to investigate disease.

Methods and Technology

Giants in genomics: Fred Sanger

The Sanger Institute takes its name from the double Nobel Prize winner and ‘father of genomics’, Frederick Sanger.

Methods and Technology

Giants in genomics: Maurice Wilkins

Maurice Wilkins shared the Nobel Prize with Francis Crick and James Watson in 1962 for their joint discovery of the structure of DNA. Naturally reticent, Wilkins didn’t initially stand forward to give his own account of the DNA story so few knew of his direct involvement in the project.

Methods and Technology

What is malaria?

A global public health challenge, malaria is one of the most common infectious diseases in the world.

Health and Disease

How is malaria treated and prevented?

Malaria is a disease that is preventable and treatable when tackled early.

Health and Disease

The discovery of DNA: the molecule of life

The discovery of DNA marked a milestone in our understanding of the natural world. In the mid 1900s scientists found important evidence on how DNA links to inheritance.

Methods and Technology

The discovery of DNA: unravelling the double helix

The discovery of DNA marked a milestone in our understanding of the natural world. Understanding DNAs spiral structure was an important step.

Methods and Technology

Giants in genomics: Rosalind Franklin

Rosalind Elsie Franklin was a British biophysicist and X-ray crystallographer whose fundamental research was critical to Watson and Crick’s discovery of the structure of DNA.

Methods and Technology

Unsung heroes in science: Margaret Hamilton

Margaret Hamilton was a computer scientist who spearheaded software engineering whilst working at NASA during the Apollo missions.

Methods and Technology

Giants in genomics: Janet Thornton

Professor Dame Janet Thornton was director of the European Molecular Biology Laboratory’s European Bioinformatics Institute (EMBL-EBI), which shares the Wellcome Genome Campus with the Wellcome Trust Sanger Institute, from 2001 to 2015.

Methods and Technology

Unsung heroes in science: Marie Maynard Daly

Marie Maynard Daly, the first Black woman in the US to receive a PhD in chemistry, worked on nucleic acids, cholesterol links to heart disease and protein synthesis.

Methods and Technology

Unsung heroes in science: Barbara McClintock

Barbara McClintock was a pioneering geneticist who discovered that genes can ‘jump’. This discovery led to her receiving the Nobel Prize in Physiology or Medicine in 1983.

Methods and Technology

Unsung heroes in science: Henrietta Lacks

Although not a scientist, Henrietta Lacks has been instrumental in biological research as her cancer cells became the first successful line of human cells to be grown in the lab. Her story has also prompted many ethical and moral questions about how scientific research is conducted.

Methods and Technology

Model organisms: yeast

Yeast is commonly used to investigate genetics, the biological processes that occur in cells and to work out the connections between genes and the proteins they code for.

Methods and Technology

Post-sequencing: sequence comparisons

How do you find out the significance of a genome after sequencing?

Methods and Technology

Post-sequencing: sequence annotation

How do you identify the genes in a genome?

Methods and Technology

Post-sequencing: putting the sequence back together

How do you put a genome back together after sequencing?

Methods and Technology

Post-sequencing: quality control

What happens to DNA sequence when it comes off a sequencing machine? Step 1 is quality control.

Methods and Technology

Post-sequencing: storing and sharing sequenced genomes

How are sequenced genomes stored and shared?

Methods and Technology

What is RNA sequencing?

RNA sequencing is a technique used to identify the sequence of the bases that make up a molecule of RNA.

Methods and Technology

How do we use CRISPR gene editing to study diseases?

CRISPR-Cas9 is a genome editing tool used to alter specific sequences of DNA in a cell. It has many uses both in research and in helping us understand disease.

Methods and Technology

Model organisms: the nematode worm

While the fruit fly has a long history as a model organism, the nematode worm (Caenorhabditis elegans) has only been used as a model organism since the early 1960s.

Methods and Technology

How do you map a genome?

There are two main ways to map a genome: genetic mapping and physical mapping. They’re used to identify and record the location of genes and the distances between genes on a chromosome.

Methods and Technology

What is genome mapping?

Genome mapping is used to identify and record the location of genes and the distances between genes on a chromosome.

Methods and Technology

What is Genomic Surveillance?

Genomic surveillance involves sequencing the genetic material of pathogens and identifying changes linked to the origins or characteristics of a disease.

Methods and Technology

Function Finders

Discover how DNA sequences code for proteins with different roles and functions.

Methods and Technology

Function Finders: BLAST!

Decode DNA sequences and discover the proteins they code for using online scientific databases.

Methods and Technology

Malaria: the search for a vaccine

After decades of research, the world’s first safe, effective vaccine for malaria began being given to children at high-risk of the disease in 2019.

Health and Disease

Editorial use only Malaria treatment. Doctor showing a mother packets of antimalarial drugs for treatment of her son. These tables contain the drugs artemether and lumefantrine, which are used to treat multi-drug resistant strains of malaria caused by the parasite Plasmodium falciparum. Photographed in Mali.

Malaria: an ongoing battle against drug-resistance

Resistance to antimalarial drugs is one of the biggest problems facing malaria control. Recent studies looking at the genome of the malaria parasite are helping scientists understand how drug resistance evolves – and how we could keep it in check.

Health and Disease

What is tuberculosis?

Tuberculosis is an infectious disease caused by a type of bacteria and mainly affects the lungs.

Health and Disease

What is Salmonella?

Salmonella is a group of bacteria that cause a wide spectrum of diseases in humans and animals

Health and Disease

What are Streptococcal infections?

Streptococcal infections are any type of infection caused by the group of bacteria Streptococcus.

Health and Disease

What are single gene disorders?

Single gene disorders are caused by DNA changes in one particular gene, and often have predictable inheritance patterns.

Health and Disease

Adverse drug reactions

An adverse drug reaction is when a medication is given as instructed but has an unwanted or harmful effect on the patient.

Health and Disease

What is bioinformatics and how do we use it?

Bioinformatics is the science of both storing lots of complex biological data, and of analysing it to find new insights, which we use in many different ways.

Methods and Technology

What is gel electrophoresis?

Electrophoresis is a technique commonly used in the lab to separate charged molecules, like DNA, according to size.

Methods and Technology

What is DNA profiling?

DNA profiling is used to identify an individual from a sample of DNA by looking at unique patterns in the DNA sequence.

Methods and Technology

What DNA is profiling used for?

Looking at unique patterns in different people’s DNA – known as DNA profiling – can help to solve crime and link biological relatives.

Methods and Technology

What is RNA splicing?

Splicing occurs during protein synthesis, and involves cutting out and rearranging sections of mRNA.

In the Cell

What is a telomere?

Telomeres are distinctive structures found at the ends of our chromosomes. They consist of the same short DNA sequence repeated over and over again.

In the Cell

What is HIV?

HIV is a virus that attacks the immune system. If left untreated, it can cause AIDS.

Health and Disease

Are humans still evolving?

For much of nature, natural selection and ‘survival of the fittest’ still play a dominant role; only the strongest can survive in the wild. As little as a few hundred years ago, the same was true for humans.

Living Things

Evolution of the human brain

The human brain is staggeringly complex and the product of millions of years of evolution.

Living Things

Evolution of modern humans

The origin of modern humans is probably one of the most debated issues in evolutionary biology.

Living Things

How is pharmacogenomics being used beyond cancer?

Pharmacogenomics is a form of personalised medicine, where the dose and type of drug given to a person is decided based on their genetic makeup.

Health and Disease

Pharmacogenomics and cancer

Pharmacogenomics is a form of personalised medicine, where the dose and type of drug given to a person is decided based on their genetic makeup.

Health and Disease

Using genomic surveillance to track MRSA 'superbugs'

Infectious diseases can spread quickly in a hospital environment, particularly if the pathogen that causes the disease is resistant to the drugs relied on to fight it. Genomics may be able to help track these resistant pathogens and nip them in the bud before they become widespread.

Health and Disease

What is antibiotic resistance?

A major public health issue, antibiotic resistance is when bacteria develop the ability to survive exposure to antibiotics designed to kill them or stop their growth.

Health and Disease

Science in the time of cholera

Cholera remains a major public health problem in many parts of the world, especially in places with inadequate access to clean water. Genomics research is helping to bring us closer to understanding how we may eliminate it once and for all.

Health and Disease

Timeline: Organisms that have had their genomes sequenced

Since DNA sequencing was developed in the 1970s, scientists have used it to learn more about different organisms and their genomes.

Methods and Technology

When was the Human Genome Project completed?

In 2003, two years ahead of schedule, scientists announced that the human genome had been sequenced with an accuracy of 99.99%. It was described as ‘the end of the beginning’.

Methods and Technology

What was the ‘draft sequence’ of the Human Genome Project?

The announcement of the first draft of the human genome on 26 June 2000 was big news – and not without its surprises.

Methods and Technology

Why was there a race to sequence the human genome?

The entry of a private company – Celera Genomics – into the human genome sequencing arena in 1998 galvanised the public effort, leading to a race to sequence the human genome.

Methods and Technology

How did the Human Genome Project make science more accessible?

The Human Genome Project is widely regarded as a model for open access science – making the results freely available to everyone.

Methods and Technology

How did patenting cause conflicts within the Human Genome Project?

Despite the collaborative nature of the Human Genome Project, it was not without its conflicts and disagreements, including some scientists trying to patent sections of the DNA sequence for their own financial gain.

Methods and Technology

The pilot project for the Human Genome Project: sequencing C. elegans

The nematode worm, Caenorhabditis elegans, was the first animal to have its genome fully sequenced. This milestone provided the proof of principle many people needed that the Human Genome Project would be possible.

Methods and Technology

Who was involved in the Human Genome Project?

Worldwide collaboration would be essential to sequence the human genome – and the Human Genome Project brought together scientists from across the world.

Methods and Technology

What was sequencing like before the Human Genome Project?

The Sanger sequencing method, developed in 1977, enabled scientists to read the genetic code for the first time. Over the next two decades, the technology evolved until it was fit for use by the Human Genome Project.

Methods and Technology

How did the Human Genome Project come about?

The Human Genome Project was so big that at the time no one thought it would be possible. But with the support of key scientists and considerable funding, it officially began in 1990.

Methods and Technology

What was the Human Genome Project for?

The Human Genome Project was the largest international collaboration ever undertaken in biology and involved thousands of scientists around the world – including those at the Wellcome Sanger Institute in Cambridge, UK.

Methods and Technology

Genome-wide association studies

Genome-wide association studies compare the genomes of people with and without certain conditions to look for genetic variation that might be responsible.

Methods and Technology

Investigate!

What makes us similar and what makes us different? Carry out your own genetic variation investigation using a selection of household items.

In the Cell

Code Crackers

In this activity, learners discover how genes encode proteins, using a codon wheel and protein profiles.

Methods and Technology

Sequencing Bracelets

In this activity, learners make a bracelet of DNA sequence from organisms including a human, chimpanzee, butterfly, carnivorous plant or flesh-eating bacteria.

In the Cell

Build a Bacteria!

Discover the diversity of bacteria and get creative making your own model bacteria!

Health and Disease

Origami DNA

This hands-on activity allows you to create your own paper model of a DNA double helix.

In the Cell

Model organisms: the zebrafish

Since the 1960s, the zebrafish (Danio rerio) has become increasingly important to scientific research. It has many characteristics that make it a valuable model for studying human genetics and disease.

Methods and Technology

How are stem cells used in research and medicine?

Stem cells can provide valuable information about early human development and why different diseases occur and could lead to new therapies to replace lost or damaged cells.

Methods and Technology

What is a stem cell?

A stem cell has the unique ability to develop into other specialised cell types in the body.

In the Cell

What is gene expression?

Gene expression is the process our cells use to convert the instructions in our DNA into a functional product, such as a protein.

In the Cell

The Human Genome Project: Personal Stories

This film features personal accounts from scientists from the USA and UK who were involved in the Human Genome Project.

Science in Society

Sequencing at speed

This 3D animation gives a simple overview of next generation DNA sequencing, known as massively parallel sequencing.

Methods and Technology

DNA sequencing

This 3D animation shows the basic steps in the method of DNA sequencing that was used during the Human Genome Project.

Methods and Technology

How inbreeding mice led to lifesaving treatments

Humans have been breeding animals for millennia to bring out desirable characteristics. In research, this has led to the mouse model – a valuable tool for studying genetics and disease.

Methods and Technology

Giants in genomics: John Sulston

Sir John Sulston was the founding director of the Sanger Centre (now the Sanger Institute) from 1992 until 2000, when the ‘working draft’ of the human genome sequence was completed.

Methods and Technology

Giants in genomics: Jennifer Doudna

Jennifer Anne Doudna is a biochemist who won the Nobel Prize for her work in developing CRISPR-Cas9 genome editing technology.

Methods and Technology

What is PCR (polymerase chain reaction)?

PCR is a technique used in the lab to make millions of copies of a particular section of DNA.

Methods and Technology

Genomic surveillance in action

Genomic surveillance sequences and monitors the genetic material of disease-causing pathogens, such as viruses and bacteria, so we can identify, track and control them. It’s become an essential tool in tackling disease epidemics.

Health and Disease

Timeline: how has the Human Genome Project been used?

What’s happened since the Human Genome Project finished in 2003?

Methods and Technology

Timeline: the past, present and future of sequencing technologies

Since the 1970s, scientists’ ability to sequence a genome has evolved from a laborious, expensive process to one that is quick, accurate and able to reveal important information about biology and medicine.

Methods and Technology

Golden Rice grain compared to white rice grain in screenhouse of Golden Rice plants.

What is genetic engineering?

Genetic engineering refers to the direct manipulation of DNA to alter an organism’s characteristics in a particular way.

Living Things

Is cancer a genetic disease?

Cancer is the most common human genetic disease. The transition from a normal cell to a malignant cancer is driven by changes to a cell’s DNA, also known as mutations.

Health and Disease

What is Fragile-X syndrome?

Fragile X is an inherited condition that may cause mild or moderate degrees of learning or intellectual difficulties.

Health and Disease

What is muscular dystrophy?

Muscular dystrophy refers to a group of inherited genetic conditions characterised by progressive muscle wasting.

Health and Disease

What are haemophilia A & B?

Haemophilia A and B are two conditions characterised by slow or inefficient formation of blood clots, leading to prolonged bleeding and spontaneous internal bleeding.

Health and Disease

What are Staphylococcal infections?

Staphylococcal infections are caused by the bacterium Staphylococcus. Infection symptoms range in severity, from skin conditions like boils to blood infections like sepsis.

Health and Disease

What is a clinical trial?

A clinical trial is a research investigation when a new treatment is first given to humans to establish if it is safe and effective at treating the disease.

Health and Disease

Gene therapy production. Tubes of baculovirus at a unit producing gene therapy treatments. In gene therapy DNA vectors, such as viruses and bacteriophages, are genetically engineered to replace a defective gene with a therapeutic human gene, in order to counteract faulty functioning of defective cells. Baculoviruses are viruses of invertebrates, and are used to produce effective gene therapy vectors.

Applications of gene therapy

Gene therapy has held great potential since its first in-person use in the 1990s. It’s currently used to treat a small number of genetic conditions and is being tested to see if it could be used to treat others.

Health and Disease

Treating the bubble babies: gene therapy in use

Severe combined immunodeficiency (SCID) is a genetic disorder characterised by a reduced number of immune cells. Some children with the condition have been treated using gene therapy.

Health and Disease

What is genetic variation?

Genetic variation is a term used to describe the variation in the DNA sequence in each of our genomes.

In the Cell

From DNA to protein

This 3D animation shows how proteins are made in the cell from the information in the DNA code.

In the Cell

DNA replication

This 3D animation shows you how DNA is copied in a cell. It shows how both strands of the DNA helix are unzipped and copied to produce two identical DNA molecules.

In the Cell

Different types of mutations

Throughout life, our DNA can accumulate changes to its sequence, known as mutations. There are lots of different mutations that can occur in DNA.

In the Cell

What happens in DNA replication?

DNA replication is the process by which DNA makes a copy of itself. This happens during cell division, making sure that each new cell receives the same genetic information as the parent cell.

In the Cell

What is evolution?

In biology, evolution is the change in the characteristics of a species over several generations and relies on the process of natural selection.

Living Things

Giants in genomics: Mike Stratton

Sir Mike Stratton served as the director of the Wellcome Trust Sanger Institute from 2010 to 2023. He also initiated and co-leads the Cancer Genome Project.

Methods and Technology

Giants in genomics: James Watson

James Watson was the co-discoverer of the double helix structure of DNA. For this fundamental finding Francis, James Watson and Maurice Wilkins were awarded the Nobel Prize for Physiology or Medicine in 1962.

Methods and Technology

What is achondroplasia?

Achondroplasia is a genetic condition that affects bone development and results in short-limb restricted growth.

Health and Disease

What is Down’s syndrome?

Down syndrome is a genetic condition caused by the presence of all or part of an extra copy of chromosome 21.

Health and Disease

What is Alzheimer’s disease?

Alzheimer’s disease is a progressive disease that causes damage to a person’s brain.

Health and Disease

What is dementia?

Dementia is used to describe a general decline in all areas of mental ability.

Health and Disease

What is sickle cell anaemia?

Sickle cell anaemia is an inherited blood cell condition in which red blood cells develop atypically.

Health and Disease

What is hereditary non-polyposis colorectal cancer?

Hereditary non-polyposis colorectal cancer is a rare condition, but it’s the most common type of inherited colorectal cancer. It’s typically caused by an inherited condition called Lynch syndrome.

Health and Disease

What is hereditary haemochromatosis?

Hereditary haemochromatosis is an inherited condition in which iron accumulates in the blood, often because too much iron is absorbed from food during digestion.

Health and Disease

Colorectal cancer,medical anatomical illustration.3d illustration

What is colorectal cancer?

Colorectal cancer, also known as bowel cancer, is a complex condition that’s influenced by multiple genes and environmental factors.

Health and Disease

The UK National DNA Database

The UK National DNA Database holds DNA profiles and samples from across the UK to help police forces investigate crime.

Science in Society

Timeline: the Human Genome Project

The Human Genome Project, which began officially in 1990, was the largest international collaboration ever undertaken in biology and involved thousands of scientists.

Methods and Technology

What is pharmacogenomics?

Pharmacogenomics is a form of personalised medicine, where the dose and type of drug given to a person is decided based on their genetic makeup.

Health and Disease

What is personalised medicine?

Personalised medicine looks at a person’s individual genes, environment and lifestyle to guide decisions about their healthcare and the prevention, diagnosis and treatment of specific conditions.

Health and Disease

What are model organisms?

Model organisms are non-human species that are used in research to help us understand specific areas of biology.

Methods and Technology

What is Covid-19?

Coronavirus disease 2019, often called Covid, or Covid-19, is a new viral disease which caused a global pandemic from the end of 2019 into the 2020s.

Health and Disease

What are dominant and recessive alleles?

Different versions of a gene are called alleles. Alleles are described as either dominant or recessive depending on their associated traits.

In the Cell

Covid-19 variants and genomic surveillance

Covid variants arise when mutations in SARS-CoV-2 virus affect how infectious or deadly it is. Genomic surveillance helps track new variants and their impact.

Health and Disease

What is CRISPR-Cas9?

CRISPR-Cas9 is a genome editing tool that is creating a buzz in the science world. It is faster, cheaper and more accurate than previous techniques of editing DNA and has a wide range of potential applications.

Methods and Technology

What is Huntington’s disease?

Huntington’s disease is a progressive neurodegenerative disorder that usually develops in middle to late adult life.

Health and Disease

3d Rendering Of Small Molecule Drug Binding To Cell Surface

How are drugs designed and developed?

Drug development is the process that takes us from an idea in the lab through extensive testing to a final product that can be used to treat people with specific conditions.

Health and Disease

What is selective breeding?

Selective breeding involves selecting individuals of a species that have characteristics of interest in the hope that their offspring inherit those desirable characteristics.

Living Things

What is familial adenomatous polyposis?

Familial adenomatous polyposis is an inherited genetic condition that makes people more likely to develop early-onset colorectal cancer and some other cancer types.

Health and Disease

Model organisms: the clawed frog

Much of our current knowledge about the early development of vertebrates comes from studies using the African clawed frog (Xenopus laevis) and Western clawed frog (Xenopus tropicalis).

Methods and Technology

What is next generation sequencing?

Next generation sequencing dramatically cut the time and cost needed to sequence a genome.

Methods and Technology

What is PacBio SMRT sequencing?

A type of third generation sequencing, Single-Molecule Sequencing in Real Time (SMRT) made it possible to sequence the DNA from single cells for the first time.

Methods and Technology

What is Oxford Nanopore Technology (ONT) sequencing?

Oxford Nanopore Technology developed third generation sequencers that are portable, able to sequence DNA in remote locations and produce ultra-long reads.

Methods and Technology

What is third generation sequencing?

A fundamentally different way to sequence DNA, third generation sequencing brought a cheaper, faster and more sophisticated approach to genomics.

Methods and Technology

What is capillary sequencing?

An evolution of Sanger sequencing, capillary sequencing made it possible to sequence the human genome.

Methods and Technology

What is phylogenetics?

Phylogenetics is the study of the evolutionary relationships between organisms, based on their genetic material revealed through DNA and RNA sequencing.

Living Things

What is a GMO?

‘GMO’ stands for ‘genetically modified organism’ – an organism that has had their characteristics changed through the modification of their DNA.

Living Things

Types of genome edits

Genome editing is used to change the characteristics of a cell or organism, by making specific changes to its DNA.

Methods and Technology

What is cystic fibrosis?

Cystic fibrosis is a relatively common genetic condition in which the lungs and digestive system become clogged with thick, sticky mucus.

Health and Disease

Model organisms: the fruit fly

The fruit fly (Drosophila melanogaster) has been used in research for more than 100 years, revealing important information about genetics and development.

Methods and Technology

Model organisms: the mouse

The mouse shares many similarities with humans in terms of anatomy, physiology and genetics, making it a useful model organism.

Methods and Technology