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Genes and disease

Genes can have a powerful impact on our health, sometimes directly - through chromosome or single gene disorders - or by influencing our susceptibility to disease.

News

Image for Genetic variant offers protection against TB and leprosy
A study has identified a new genetic variant which affects susceptibility to diseases such as tuberculosis and leprosy. 05/03/10
Image for Genomic research reveals new mutations in kidney cancer
Scientists have identified new mutations behind the most common type of kidney cancer. This could ultimately help in diagnosis and treatment. 07/01/10
Image for Researchers uncover novel genetic markers for diabetes-related traits
New genetic clues to the development of type 2 diabetes will aid studies to understand the biology of disease and the search for treatments. 18/12/09
Image for Lung cancer and melanoma cancer genomes revealed
Research teams led by the Wellcome Trust Sanger Institute have today revealed the first comprehensive analyses of cancer genomes. 16/12/09
Image for Genetic studies reveal new causes of severe obesity in childhood
A Wellcome Trust-funded study is the first to show that the loss of a key segment of DNA can lead to severe childhood obesity. 07/12/09
Image for Powerful genetic studies reveal secrets of inflammatory bowel disease
Two of the largest ever genetic studies of inflammatory bowel diseases have identified genetic regions which increase susceptibility to these conditions. 16/11/09
Image for Testicular tumours may explain why genetic diseases tend to be more common in children of older fathers
A rare form of testicular tumour has provided scientists with new insights into how genetic mutations arise in children. 26/10/09
Image for Largest ever genetic study of Alzheimer's reveals new disease genes
The largest ever genome-wide association study of Alzheimer's has uncovered two genes associated with the disease, which will help develop new treatments. 09/09/09
Image for Study identifies first gene links to most common brain cancer
Genetic variants that increase the risk of developing glioma have been identified by scientists part-funded by the Wellcome Trust. 06/07/09
Image for Study reveals gene link to drug-induced liver damage
A genetic marker that may predict why some individuals suffer liver injury after taking certain medicines is the first finding from the International Serious Adverse Event Consortium. 03/06/09
Image for First genetic links to testicular cancer revealed
The first genetic variants associated with increased risk of testicular cancer have been found in a study part-funded by the Wellcome Trust. 01/06/09
Image for New learning disability genes identified
Nine new genes associated with learning disabilities have been identified in research part-funded by the Wellcome Trust. 24/04/09
Image for New cancer gene identified by Trust-funded research
Mutations in the UTX gene have been found in many different types of cancer - including kidney cancer, multiple melanoma and oesophogeal cancer - according to a study funded by the Wellcome Trust. The finding, from researchers on the Cancer Genome Project, offers a new avenue for research that could lead to new cancer treatments. 30/03/09
Image for Gene variants confer diabetes protection, researchers say
Rare genetic mutations that confer protection against developing type 1 diabetes have been found. Furthermore, the nature of the mutations suggests that the disease may be caused by a common virus. 06/03/09
Image for Genetic finding provides insight into new cause of infertility
A European research collaboration has identified a new genetic cause for primary ovarian insufficiency, a condition that can lead to infertility in women. 26/02/09
Image for Case Control Consortium data reveal new heart disease genes
Data from the Wellcome Trust Case Control Consortium (WTCCC) have helped uncover ten new genes linked with heart disease. 09/02/09
Image for Genetic study shows direct link between vitamin D and MS susceptibility gene
Researchers have found evidence that a direct interaction between vitamin D and a common genetic variant alters the risk of developing multiple sclerosis (MS). 06/02/09
Image for Sixty million people carry heart disease mutation
One in a hundred people carry a genetic mutation almost guaranteed to lead to heart problems, research published today in 'Nature Genetics' shows. According to an international team of 25 scientists from four countries, this mutation is carried by one in 25 people from the Indian subcontinent. 19/01/09
Image for Research exposes genetic link between diabetes and coeliac disease
Research part-funded by the Wellcome Trust has revealed a common genetic origin of type 1 diabetes and coeliac disease. 12/12/08
Image for Rapid screening sorts the cancer drivers from the passengers
Scientists at the Wellcome Trust Sanger Institute have developed a new method to screen thousands of gene mutations for their ability to cause cancer. The system will speed up the hunt for the most important mutations in tumour samples and accelerate the identification of new therapeutic targets. 02/12/08
Image for Trust to coordinate breast cancer studies in international cancer effort
The Wellcome Trust is to coordinate studies of different subtypes of breast cancer, as part of an international collaboration creating a clearer picture of the genomic changes involved in cancer. 19/11/08
Image for Wellcome Trust expands support for genome-wide association studies
The Wellcome Trust is seeking new proposals for its genome-wide association studies in disease initiative, building on the success of the Wellcome Trust Case Control Consortium. 11/11/08
Image for Genetic study provides new insights into molecular basis of language development
Scientists have identified the first gene that is associated with a common childhood language disorder, known as specific language impairment (SLI). The gene - CNTNAP2 - has also been recently implicated in autism, and could represent a crucial genetic link between the two disorders. 05/11/08
Image for Mouse provides new clue to hearing loss
Researchers have identified a mutant mouse that provides new clues to the genetic cause of progressive hearing loss in humans. 04/11/08
Image for Genetic finding implicates innate immune system in major cause of blindness
Scientists have identified one of the genes implicated in age-related macular degeneration, the most common cause of blindness in developed countries. 07/10/08
Image for Large-scale genetic studies provide insight into causes of schizophrenia
New research published has provided fresh insights into the genetics of schizophrenia, particularly highlighting the role of rare copy number variations (CNVs) in causing the disease. The researchers hope the findings will help end some of the stigma surrounding the disease. 31/07/08
Image for Complexity of Crohn's disease revealed
New research has trebled the number of genetic regions known to be implicated in Crohn's, a form of inflammatory bowel disease, to over 30. 29/06/08
Image for Genome-wide scan uncovers genes involved in osteoporosis risk
An international team of researchers has identified two genes that play a key role in the risk of osteoporosis. 13/05/08
Image for Global genetics consortium sets sights on cancer
Researchers from four continents announced the launch of the International Cancer Genome Consortium (ICGC), a major collaboration designed to identify the key genetic mutations involved in up to 50 types of cancer. 29/04/08
Image for Genes and disease
The largest ever study of genetics of common diseases has been launched with £30 million funding from the Wellcome Trust. 20/04/08
Image for New clues to genetics of type 2 diabetes
An international collaboration of scientists from Europe and the US has identified six new genes that play a role in the development of type 2 diabetes. 30/03/08
Image for Patients and pathogens
Understanding how the genetic make-up of both the patient and the pathogen interact may be essential for allowing us to develop more sophisticated treatments and vaccines. 28/03/08
Image for Mitochondrial 'bottleneck' cracked
Scientists have shown for the first time how a particular family of diseases are passed down from mother to child and how this can lead to the severity of the disease differing widely. 27/01/08
Image for Major genetic breakthrough for ankylosing spondylitis brings treatment hope
Research funded by the Wellcome Trust and the Arthritis Research Campaign has identified two genes implicated in the disease ankylosing spondylitis. 21/10/07
Image for 'Lucky thirteen' as new gene discovery offers further hope
An international research team has discovered a gene that, when mutated, causes one of the most common forms of inherited blindness in babies. 11/06/07
Image for Largest ever study of genetics of common diseases published
The Wellcome Trust Case Control Consortium publishes its findings. 11/06/07
Image for Genetic risk factors for type 2 diabetes
Variants in three genes predispose people to type 2 diabetes. 27/04/07
Image for 'Gang of 4' genes drives spread of breast cancer
Studies of human tumour cells implanted in mice show that abnormal activation of four genes drives the spread of breast cancer to the lungs. 11/04/07
Image for Why ApoE4 increases Alzheimer's risk
People with the ApoE4 gene are at higher risk for developing Alzhiemer's disease. 10/04/07
Image for 'Mal' variants discovered
A gene providing protection against infectious diseases such as malaria can also increase the risk of disease. 29/03/07
Image for Circadian rhythm gene linked to bipolar disorder
Disrupt the gene that regulates biological clocks in mice and they become manic, exhibiting behaviours similar to humans with bipolar disorder. 19/03/07
Image for Cancer genes: Drivers unwanted
The Cancer Genome Project has found mutations in 120 kinase genes that appear to 'drive' cancer. 14/03/07
Image for PALB2 gene linked to breast and childhood cancer risk
Women who inherit one damaged copy of the PALB2 gene have double the risk of developing breast cancer, and children who inherit two damaged copies have a newly identified serious disorder linked to childhood tumours. 19/02/07
Image for New genetic clue to cause of Alzheimer's disease
Variations in a gene known as SORL1 may be a factor in the development of late onset Alzheimer's disease, an international team of researchers has discovered. 16/02/07
Image for Hair-pulling disorder caused by faulty gene in some families
Researchers have found gene mutations that cause trichotillomania, a psychiatric disorder that triggers people to compulsively pull their hair. 27/09/06
Image for Gene offers new lead in cleft lip and palate research
The SUMO1 gene, when underexpressed, can cause cleft lip and palate, one of the world's most common birth defects. 21/09/06
Image for Genetic birth defects a serious global problem
A global survey of serious genetic conditions has reported that almost eight million children worldwide are born with a serious genetic defect each year. 08/02/06
Image for Alzheimer's found to be mostly genetic
Largest twin study ever undertaken confirms highest estimates of genetic risk. 06/02/06
Image for Autism: serotonin susceptibility
The nature of the genetic influence on autism is unclear. Now, a possible susceptibility gene links the condition to the brain's serotonin pathways. 05/01/06
Image for Chromosome engineering: extra help
Geneticists have managed to transplant most of human chromosome 21 into mice to produce an animal model of Down's syndrome. 23/09/05
Image for Gene variant increases risk of age-related macular degeneration
Three studies find a genetic link to the leading cause of blindness among the over 60s. 15/03/05
Image for Susceptibility gene may influence risk of HIV infection
People with more copies of a gene that helps to fight HIV may be less likely to become infected with the virus or to develop AIDS. 06/01/05
Image for Alzheimer's: Who wants genetic testing?
US study finds significant interest in APOE4 testing among adult children of individuals affected by Alzheimer's. 30/07/04
Image for SUMO-4 gene linked to type 1 diabetes
A natural mutation of a gene that helps regulate the reactivity of the immune system is found to be a major contributor to type 1 diabetes. 12/07/04
Image for AKT2 gene and insulin resistance
Mutation in the pathway from the insulin receptor leads to insulin resistance and diabetes in some people. 28/05/04
Image for CHEK2 gene increases risk of breast cancer
Inheriting the wrong version of a gene called CHEK2 doubles a woman's risk of developing breast cancer, Cancer Research UK scientists have confirmed. 17/05/04
Image for Faulty DNA replication linked to neurological diseases
An unusual three-stranded DNA structure that forms during replication may underlie neurological diseases such as Friedreich's ataxia. 10/04/04
Image for Gene variants may increase susceptibility to type 2 diabetes
International research teams find variants in the HNF4A gene that may predispose people to type 2 diabetes, the most common form of the disease. 11/03/04
Image for ALOX5AP gene linked to increased risk of heart attack and stroke
Icelandic researchers identify two variants of the ALOX5AP gene that may increase the risk of heart attack and stroke. 10/02/04
Image for Lean mouse resists diabetes
No obesity or diabetes for a mouse engineered to be immune to a high-fat diet. 02/09/03
Image for Aurora2 may be cancer 'susceptibility' gene
A common variant of the Aurora2 gene may increase susceptibility to cancer development – one of the first examples of a 'low penetrance' tumour susceptibility gene in humans. 24/07/03
Image for Asthma susceptibility gene discovered
Oxford researchers find gene which predisposes people to asthma and atopy. 19/05/03
Image for SOX2 and babies without eyes
Mutations in a gene called SOX2 may be the cause of a devastating condition that leads to babies being born without eyes. 05/05/03
Image for Genetic variation in 'molecular brake' for immune system increases risk of three serious common diseases
Variation in the CTLA-4 gene are associated with increased risk of developing type 1 diabetes, Graves disease and autoimmune hypothyroidism. 30/03/03
Image for Genetic mutations involved in heart failure
Researchers have discovered how a single genetic mutation triggers heart failure by disrupting the flow of calcium in heart muscle cells. 20/03/03
Image for Gene variants claimed to be involved in asthma susceptibility
Variants of a gene called ADAM33 may be involved in susceptibility to asthma. 13/08/02
Image for Genetic contribution to asthma severity?
Variants of a gene encoding the protein interleukin 12B may associated with severity of disease in children who have asthma. 02/08/02
Image for Melanoma and the BRAF gene
The Cancer Genome Project has identified a major genetic change involved in 70 per cent of cases of malignant melanoma. 09/06/02
About 6000 known single gene disorders affect humans.
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