Haemophilia A and B are two disorders characterised by slow and inefficient formation of blood clots leading to prolonged bleeding and spontaneous internal bleeding.
A genetic disorder is a disease that is caused by a change, or mutation, in an individual’s DNA sequence.
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.
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.
Baker’s yeast, or Saccharomyces cerevisiae as it is also known, is among the best-studied experimental organisms.
Producing a new drug is an expensive and time-consuming process that is subject to extensive regulation.
There are lots of different mutations that can occur in our DNA.
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.
Gene expression is the process by which the instructions in our DNA are converted into a functional product, such as a protein.
Chromosomes are bundles of tightly coiled DNA located within the nucleus of almost every cell in our body. Humans have 23 pairs of chromosomes.
DNA replication is the process by which DNA makes a copy of itself during cell division.
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.
The Human Genome Project, which began officially in 1990, was the largest international collaboration ever undertaken in biology and involved thousands of scientists.
The fruit fly (Drosophila melanogaster) is one of the most well understood of all the model organisms.
Illumina sequencing has been used to sequence many genomes and has enabled the comparison of DNA sequences to improve understanding of health and disease.
In 2005, 454 Life Sciences launched the first next-generation DNA sequencer – a big leap forward in DNA sequencing technology.
Genome sequencing can mean sequencing an organism's entire genome or just focusing on sequencing very specific areas of DNA.
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).
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.
Different versions of a gene are called alleles. Alleles are described as either dominant or recessive depending on their associated traits.
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.
The DNA code contains instructions needed to make the proteins and molecules essential for our growth, development and health.
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.
Pharmacogenomics is the tailoring of drug treatments to people’s genetic makeup, a form of ‘personalised medicine’.
The National DNA Database (NDNAD) holds the DNA profiles and samples from a select number of UK individuals.
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.
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.
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.
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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