Health and disease

Image showing DNA chromatogram graph. Different DNA bases are represented by different coloured peaks on the graph. Underneath the graph is the corresponding DNA base letters associated with the peaks of the graph.

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.

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Picture of a scientist preparing covid samples for sequencing.

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.

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Colourful 3D background of lots of different viruses such as Covid-19 and influenza.

What are infectious diseases?

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

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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.

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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.

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Build a Bacteria!

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

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scientists in the lab wearing, masks, gloves and lab coats

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.

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woman looking at a computer of the map of the world

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.

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promotional graphic displaying genomics lite information

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.

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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.

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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.

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A sandfly (Phlebotomus papatasi) in the process of ingesting a bloodmeal. Sandflies are responsible for the spread of the Leishmania parasite species that cause the disease Leishmaniasis.

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.

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picture of someone writing down some records in a note book.

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.

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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.

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Distributing Zanzira bed nets in Amhara State

How is malaria treated and prevented?

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

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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.

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3d illustration of Uncontrolled cell growth

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.

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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.

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A medical professional preparing a vaccine for a child.

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.

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Pharmacist filling prescription in pharmacy

Personal genomics: the future of healthcare?

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

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Rituximab: Monoclonal Antibody used to Treat Certain Cancers And Autoimmune

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.

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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.

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David Vetter from Texas also had SCID and had to live in a sterile environment for most of his life during the 1970s and 1980s. He was known to the media as ‘the boy in the plastic bubble’ and wore a special ‘spacesuit’ to protect him from infections.

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.

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Methicillin resistant Staphylococcus aureus

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.

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Picture of lots of mosquitos in a pot being held by a scientist wearing gloves

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.

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image of a crowd of people with a tracking system over the top showing if someone is 'infected' or 'healthy' or 'immune'

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.

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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.

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What are Streptococcal infections?

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

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Scientist wear glove holding test tube in sample rack

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.

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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.

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Single gene disorders are caused by DNA changes in one particular gene, picture of a DNA change in one gene

What are single gene disorders?

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

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Image of the Trypanosoma brucei parasite that causes African sleeping sickness.

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.

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What is Alzheimer’s disease?

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

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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.

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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.

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What is Fragile-X syndrome?

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

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What is HIV?

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

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Neuronal,Inclusions,In,Huntington's,Disease,,3d,Illustration.,Inclusions,Are,Composed

What is Huntington’s disease?

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

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Color-enhanced scanning electron micrograph showing Salmonella typhimurium (red) invading cultured human cells.

What is Salmonella?

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

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What is a chromosome condition?

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

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Man holding a pill in one hand and a glass of water in the other

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.

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Elderly female hand using an inhaler while having difficulty breathing

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.

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What is achondroplasia?

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

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Antimicrobial susceptibility testing in petri dish.

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.

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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.

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protein called the cystic fibrosis transmembrane conductance regulator

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.

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What is dementia?

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

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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.

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DNA strand entering and leaving a blue coloured virus.

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.

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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.

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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.

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What is malaria?

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

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Microscope image showing a cross section of muscular dystrophy affected leg muscle, showing extensive replacement of muscle fibres (pink) with adipose cells (white).

What is muscular dystrophy?

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

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Shot of a doctor showing a patient some information on a digital tablet

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.

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Pharmacist,Holding,Medicine,Box,And,Capsule,Pack,In,Pharmacy,Drugstore.

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.

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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.

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What is sickle cell anaemia?

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

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Mycobacterium Tuberculosis Bacteria, the Cause of TB

What is tuberculosis?

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

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