facts What is phylogenetics? Phylogenetics is the study of the evolutionary relationships between organisms, based on their genetic material revealed through DNA and RNA sequencing.
facts What is RNA splicing? Splicing occurs during protein synthesis, and involves cutting out and rearranging sections of mRNA.
facts What is RNA sequencing? RNA sequencing is a technique used to identify the sequence of the bases that make up a molecule of RNA.
facts 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.
facts 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.
facts 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.
facts Sequencing technologies: past, present and future The sequencing field is fast changing, with new technologies allowing dramatic drop in the cost of sequencing while improving data quality and accessibility.
facts 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.
facts 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.
facts What are Covid-19 variants and why is genomic surveillance of them important? 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.
facts 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.
facts What is a stem cell? A stem cell is a cell with the unique ability to develop into specialised cell types in the body. In the future they may be used to replace cells and tissues that have been damaged or lost due to disease.
facts What is selective breeding? Selective breeding involves selecting parents that have characteristics of interest in the hope that their offspring inherit those desirable characteristics.
facts What is genome editing? Genome editing is a way of making specific changes to the DNA of a cell or organism. An enzyme cuts the DNA at a specific sequence, and when this is repaired by the cell a change or ‘edit’ is made to the sequence.
facts What is a GMO? GMOs are organisms that have had their characteristics changed through the modification of their DNA.
facts 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.
facts What is a DNA fingerprint? DNA fingerprinting is a method used to identify an individual from a sample of DNA by looking at unique patterns in their DNA.
facts How do you map a genome? Genome mapping is used to identify and record the location of genes and the distances between genes on a chromosome. Genome mapping provided a critical starting point for the Human Genome Project.
facts What is gel electrophoresis? Electrophoresis is a technique commonly used in the lab to separate charged molecules, like DNA, according to size.
facts 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. There are a variety of different helminths from the very large to the microscopic.
facts 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. It was first developed in the 1980s.
facts What happens to DNA sequence when it comes off a sequencing machine? DNA sequencing produces huge amounts of data essentially comprising of lots of short sections of DNA letters. The first step is to check that the sequence is of the highest quality before we start to piece the sections together.
facts How are sequenced genomes stored and shared? After a genome has been sequenced, assembled and annotated it needs to be shared in a format that is easily and freely accessible to all. This can be done via a database called a genome browser.
facts How do you find out the significance of a genome after sequencing? We’ve sequenced the genome, put it back together and identified the genes, but now we need to find out what this genome can tell us and how it compares to other genomes.
facts How do you identify the genes in a genome? After the sections of DNA sequence have been assembled into a complete genome sequence we need to identify where the genes and key features are, but how do we do this?
facts How do you put a genome back together after sequencing? After DNA sequencing is complete, the fragments of DNA that come out of the machine are all jumbled up. Like a jigsaw puzzle we need to take the pieces of the genome and put them back together.
facts What is schistosomiasis? Schistosomiasis is a tropical disease caused by a parasite. The parasite is transmitted through contact with fresh water contaminated with the parasite’s larvae.
facts What is African sleeping sickness? African trypanosomiasis is a parasitic disease transmitted by the tsetse fly. It gets its nickname ‘sleeping sickness’ because symptoms can include a disturbed sleep pattern.
facts How is malaria treated and prevented? Malaria is an entirely preventable and treatable disease if tackled early enough. However, there are growing problems with drug resistance that are posing a threat to the global fight against malaria.
facts What is malaria? Spread by mosquitos, malaria is one of the most common infectious diseases and a global public health challenge.
facts Timeline: History of genomics A timeline depicting the key events in the history of genomics and genetic research alongside those in popular culture. From the discovery of DNA, and the election of Roosevelt, right through to whole genome sequencing and Andy Murray winning Wimbledon for the first time.
facts What is shotgun sequencing? Shotgun sequencing involves randomly breaking up DNA sequences into lots of small pieces and then reassembling the sequence by looking for regions of overlap.
facts What is clone-by-clone sequencing? During clone-by-clone sequencing, a map of each chromosome of the genome is made before the DNA is split up into fragments ready for sequencing.
facts 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. These cells are our sex cells – sperm in males, eggs in females.
facts 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 keys differences and similarities between the two types of cell division.
facts What is mitosis? Mitosis is a process where a single cell divides into two identical daughter cells (cell division).
facts Timeline: Organisms that have had their genomes sequenced To develop techniques for DNA sequencing, scientists began by sequencing the genomes of small, simple organisms. As techniques improved it became possible to sequence the genomes of more complex organisms, such as the human genome. Now, we have a large catalogue of genomes that have been sequenced that we can study and compare.
facts What is inheritance? Inheritance is the process by which genetic information is passed on from parent to child. This is why members of the same family tend to have similar characteristics.
facts 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.
facts 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.
facts What are infectious diseases? Infectious diseases are caused by microorganisms such as viruses, bacteria, fungi or parasites and can spread between individuals.
facts 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 correct the effects of a disease-causing mutation.
facts What is capillary sequencing? By the mid-1990s, when the Human Genome Project was in full swing, scientists were sequencing DNA using capillary sequencers.
facts What is colorectal cancer? Colorectal cancer, also known as bowel cancer, is a complex disease that is influenced by multiple genes and environmental factors.
facts What is Salmonella? Salmonella are a group of bacteria that cause a wide spectrum of diseases. They are able to cause significant morbidity, and in some case, mortality, in both humans and animals.
facts What is achondroplasia? Achondroplasia is a genetic disorder affecting bone development that results in short-limb dwarfism.
facts What is Down's syndrome? Down’s syndrome is a genetic disorder caused by the presence of all or part of an extra copy of chromosome 21.
facts What is HIV? HIV is a virus that attacks the immune system and, if left untreated, causes AIDS.
facts What is tuberculosis? Tuberculosis is a disease caused by a bacterium that mainly affects the lungs to cause a persistent and, occasionally bloody, cough.
facts What are Streptococcal infections? Streptococcal infections are any type of infection caused by the group of bacteria Streptococcus.
facts What are Staphylococcal infections? Staphylococcal infections are a group of infections caused by the bacterium Staphylococcus. Infection causes a range of symptoms, from skin conditions to food poisoning.
facts What is antibiotic resistance? Antibiotic resistance is when bacteria develop the ability to survive exposure to antibiotics designed to kill them or stop their growth.
facts What is genetic testing? Genetic testing is an incredibly useful tool for identifying changes or mutations in DNA that could lead to genetic disease.
facts 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.
facts What is dementia? Dementia is used to describe a general decline in all areas of mental ability. It is caused by brain injury or diseases such as Alzheimer’s.
facts What is Alzheimer's disease? Alzheimer’s is a disease that slowly and progressively destroys the brain. It is also described as a complex disease because it can be influenced by a range of genetic and environmental factors.
facts 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.
facts What is sickle cell anaemia? Sickle cell anaemia is an inherited blood disorder in which red blood cells develop abnormally.
facts What is Huntington's disease? Huntington’s disease is a progressive neurodegenerative disorder that usually develops in middle to late adult life.
facts What is hereditary non-polyposis colorectal cancer? Hereditary non-polyposis colorectal cancer is a rare condition, but it is the commonest inherited syndrome that predisposes sufferers to early-onset colorectal cancer.
facts What is hereditary haemochromatosis? Hereditary haemochromatosis is also known as iron overload disease. It is an inherited disorder in which iron accumulates in the blood because too much is absorbed by the intestines.
facts What are haemophilia A & B? Haemophilia A and B are two disorders characterised by slow and inefficient formation of blood clots leading to prolonged bleeding and spontaneous internal bleeding.
facts What is familial adenomatous polyposis? Familial adenomatous polyposis is an inherited cancer syndrome that predisposes patients to early-onset colorectal cancer, and some other cancers.
facts What is muscular dystrophy? Duchenne and Becker muscular dystrophy are two inherited muscle-wasting diseases caused by mutations in the same gene on the X chromosome.
facts What is a genetic disorder? A genetic disorder is a disease that is caused by a change, or mutation, in an individual’s DNA sequence.
facts What are single gene disorders? Single gene disorders are caused by DNA changes in one particular gene, and often have predictable inheritance patterns.
facts What is a chromosome disorder? A chromosome disorder results from a change in the number or structure of chromosomes.
facts What is Fragile-X syndrome? Fragile X is a common inherited syndrome that causes intellectual disability. It affects one in every 2,000 males and one in every 6,000-8,000 females.
facts What are model organisms? A model organism is a species that has been widely studied, usually because it is easy to maintain and breed in a laboratory setting and has particular experimental advantages.
facts What is genetic engineering? Genetic engineering refers to the direct manipulation of DNA to alter an organism’s characteristics (phenotype) in a particular way.
facts 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.
facts How are drugs designed and developed? Producing a new drug is an expensive and time-consuming process that is subject to extensive regulation.
facts Why use the mouse in research? Humans and mice share many common genetic features and by examining the physiology, anatomy and metabolism of a mouse, scientists can gain a valuable insight into how humans function.
facts Why use yeast in research? Baker’s yeast, or Saccharomyces cerevisiae as it is also known, is among the best-studied experimental organisms.
facts Why use the frog in research? Much of our current knowledge about the mechanisms of early development in vertebrates comes from studies using the African clawed frog (Xenopus laevis) and Western clawed frog (Xenopus tropicalis).
facts Why use the fly in research? The fruit fly (Drosophila melanogaster) is one of the most well understood of all the model organisms.
facts What is the Illumina method of DNA sequencing? Illumina sequencing has been used to sequence many genomes and has enabled the comparison of DNA sequences to improve understanding of health and disease.
facts What is 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.
facts Types of genome sequencing Genome sequencing can mean sequencing an organism's entire genome or just focusing on sequencing very specific areas of DNA.
facts What types of mutation are there? There are lots of different mutations that can occur in our DNA.
facts What is a mutation? A mutation is a change that occurs in our DNA sequence, either due to mistakes when the DNA is copied or as the result of environmental factors such as UV light and cigarette smoke.
facts What is gene expression? Gene expression is the process by which the instructions in our DNA are converted into a functional product, such as a protein.
facts What is genetic variation? Genetic variation is a term used to describe the variation in the DNA sequence in each of our genomes. Genetic variation is what makes us all unique, whether in terms of hair colour, skin colour or even the shape of our faces.
facts What is a gene? Genes are small sections of DNA within the genome that code for proteins. They contain the instructions for our individual characteristics – like eye and hair colour.
facts What is a chromosome? Chromosomes are bundles of tightly coiled DNA located within the nucleus of almost every cell in our body. Humans have 23 pairs of chromosomes.
facts What is DNA replication? DNA replication is the process by which DNA makes a copy of itself during cell division.
facts What is the 'Central Dogma'? The ‘Central Dogma’ is the process by which the instructions in DNA are converted into a functional product. It was first proposed in 1958 by Francis Crick, discoverer of the structure of DNA.
facts What is a cell? Cells are the basic building blocks of living things. The human body is composed of trillions of cells, all with their own specialised function.
facts 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.
facts 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.
facts What is pharmacogenomics? Pharmacogenomics is the tailoring of drug treatments to people’s genetic makeup, a form of ‘personalised medicine’.
facts What are BAC libraries? During the Human Genome Project, researchers had to find a way to reduce the entire human genome into chunks, as it was too large to be sequenced in one go. To do this they created a store of DNA fragments called a BAC library.
facts What is a clinical trial? A clinical trial is a research investigation when a new treatment is first given to humans, with or without a disease, to establish if the drug is safe and effective at treating the disease.
facts What is the UK National DNA Database? The National DNA Database (NDNAD) holds the DNA profiles and samples from a select number of UK individuals.
facts Where did DNA sequencing begin? DNA sequencing is the process of determining the order of bases in a length of DNA. Its development has helped to dramatically advance our understanding of genetics.
facts Why use the zebrafish in research? 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.
facts Why use the worm in research? 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.
facts What does DNA do? The DNA code contains instructions needed to make the proteins and molecules essential for our growth, development and health.
facts What is DNA? DNA or deoxyribonucleic acid is a long molecule that contains our unique genetic code. Like a recipe book it holds the instructions for making all the proteins in our bodies.
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