13.12.11 Deciphering Developmental Disorders Study
- ITN - Problem families tackled 13.12.2011
The Deciphering Developmental Disorders (DDD) study aims to use new genomic technologies to improve the diagnosis of developmental disorders in children. It is a collaboration between the NHS clinical genetics services, the Wellcome Trust Sanger Institute and families across the UK. We worked with ITN to promote this study and to encourage interest and awareness of these developmental disorders. [Web page]
13.12.11 The mystery behind the building of muscle
- Medical Express - Jamb and Jamc are essential proteins for the fusion of muscle cells 13.12.2011
Researchers have discovered two proteins that are essential for the fusion of muscle cells to build muscle fibres. Their discovery might help us better understand and treat illnesses such as muscle-wasting disorders and diseases of bone over-growth, in which cellular fusion is an important feature. [Press Release]
30.11.11 From Gene to Function
- Indian Express - Wound-healing genes 'discovered' 06.12.2011
Researchers have identified 68 regions of the genome that affect the size and number of platelets. Platelets are small cells that circulate in the blood and are key to the processes of blood clotting and wound healing. In this genome-wide study, the team used a multidisciplinary approach to successfully identify new genetic variants involved in the formation of platelets and more importantly, defined the function of genes near these variants using a series of biological analyses. [Press Release]
09.11.11 Malaria's Achilles' heel revealed?
- ITN - Malaria vaccination hope 10.11.2011
- CNN live 10.11.2011
- BBC Radio 4 - Today Programme 10.11.2011
- Al Jazeera - Breakthrough hope in fight against malaria 11.11.2011
- Metro - Malaria breakthrough: 'Achilles' heel' discovery raises cure hopes 10.11.2011
- Cosmos Magazine - Malaria's unique infection route revealed 10.11.2011
- BBC Online - Malaria vaccine hope after blood entry route discovered 10.11.2011
- Science - Malaria's Master Key 09.11.2011
- Reuters - Malaria finding points to possible new vaccine 09.11.2011
- AFP - Scientists find big chink in malaria's armour 09.11.2011
- The Guardian - Malaria's weak spot pinpointed in the hunt for an effective vaccine 10.11.2011
- The Independent - The long road to victory over humanity's old enemy malaria 10.11.2011
Researchers have revealed a key discovery in understanding how the most deadly species of malaria parasite, Plasmodium falciparum, invades human red blood cells. Using a technique developed at the Wellcome Trust Sanger Institute, they have found that the parasite relies on a single receptor on the red blood cell's surface to invade, offering an exciting new focus for vaccine development. [press release]
06.11.11 Researchers discover genes involved in colorectal cancer
- Science Daily - Colorectal Cancer: Jumping Gene Named Sleeping Beauty Plays Vital Role in Investigating Cancer Pathway 06.11.2011
A jumping gene with the fairy tale name 'Sleeping Beauty' has helped to unlock vital clues for researchers investigating the genetics of colorectal cancer. Researchers used the Sleeping Beauty transposon system to profile the repertoire of genes that can drive colorectal cancer, identifying many more than previously thought. Around one third of these genes are mutated in human cancer, which provides strong evidence that they are driver mutations in human tumours. [press release]
27.10.11 Different paths to drug resistance in Leishmania
- Medical News Today - Better Understanding Of Parasite That Causes Leishmaniasis 28.10.2011
Researchers have found that the DNA sequence of individual strains of each species populations is almost completely identical. It appears that only a small number of genes may cause different symptoms of infection. They've also found that the parasite's evolutionary development and success may be driven by a genetic abnormality leading to multiple copies of chromosomes and genes (known as copy number variation) that would kill most organisms. These studies increase our understanding of the process of drug resistance in Leishmania. [press release]
12.10.11 Clean correction of a patient's genetic mutation
- BBC News Online - Gene therapy and stem cells unite 13.10.2011
- The Guardian - Skin transformed into liver cells to treat an inherited disease 12.10.2011
- The Telegraph - Genetic liver conditon corrected with stem cells 12.10.2011
- RTE News Online - New stem cell method makes liver cells 13.10.2011
- French Tribune - Stem Cells To Bring Revolution In Medical Science 15.10.2011
- Science - Spell-Checked Stem Cells Show Promise Against Liver Disease 12.10.2011
- Reuters - New stem cell method makes functioning liver cells 12.10.2011
- Fox News - New Stem Cell Method Makes Functioning Liver Cells 12.10.2011
Scientists have cleanly corrected a human gene mutation in a patient's stem cells. The team targeted a gene mutation responsible for both cirrhotic liver disease and lung emphysema. Using cutting-edge methods, they were able to correct the sequence of a patient's genome, remove all exogenous DNA and show that the corrected gene worked normally. The result brings the possibility of patient-specific therapies closer to becoming a reality. [press release]
07.10.11 Scientists identify cause of severe hypoglycaemia
- BBC News Online - Severe hypoglycaemia cause found 07.10.2011
- Toronto Sun - Gene that causes rare form of hypoglycemia identified 09.10.2011
Scientists have identified the cause of a rare, life-threatening form of hypoglycaemia. Their findings have the potential to lead to pharmaceutical treatments for the disorder. [press release]
27.09.11 Researchers uncover gene associated with blood cancers
- Yahoo News - Gene behind chronic blood cancer identified 27.09.2011
A genomic study of chronic blood cancer - a precursor to leukaemia - has discovered gene mutations that could enable diagnosis using only a blood test, avoiding the need for an invasive and painful bone marrow biopsy. [press release]
14.09.11 Researchers develop mouse genetic blueprint
- Science Daily - Researchers Develop Mouse Genetic Blueprint; Mouse Study Drives Forward Understanding of Human Biology 15.09.2011
Researchers have developed a valuable mouse genetic blueprint that will accelerate future research and understanding of human genetics. In creating this unique resource, the biggest catalogue for any vertebrate model organism, the team found an astonishing 56.7 million unique sites of variation (known as SNPs) between the strains, in addition to other more complex differences. [press release]
25.08.11 Third genetic link to osteoarthritis discovered
- Yahoo News - Third gene linked to osteoarthritis identified 26.08.2011
Researchers have revealed a new gene associated with osteoarthritis. This is only the third gene to be identified for this painful and debilitating disease that affects more than 40 per cent of people aged more than 70 years. [press release]
24.08.11 Cholera pandemic's source discovered
- BBC News Online - Cholera pandemic has a single global source 25.08.2011
- BBC Radio 4 - Cholera heartland found in Asia 25.08.2011
Researchers have used next-generation sequencing to trace the source and explain the spread of the latest (seventh) cholera pandemic. They have also highlighted the impact of the acquisition of resistance to antibiotics on shaping outbreaks and show resistance was first acquired around 1982. [press release]
15.08.11 Unique immune system in Atlantic cod
- Nature News - Cod genome reveals unusual immune system 10.08.2011
- Science - Cod Genome Reveals Stunning Gap in Immune System 10.08.2011
- The Guardian - Atlantic cod survive without 'vital' immune genes, say scientists 10.08.2011
An international team of researchers has used high throughput sequencing technology to make a striking discovery that changes fundamental ideas about the evolution of the immune system in vertebrates. The team found that an important component of the immune system is absent in Atlantic cod. [press release]
25.07.11 Elusive gene discovered that makes platelets grey
- Science Daily - Gray Platelet Syndrome: Elusive Gene That Makes Platelets Gray Identified 25.07.2011
Researchers have identified an elusive gene responsible for Grey Platelet Syndrome, an extremely rare blood disorder in which only about 50 known cases have been reported. As a result, it is hoped that future cases will be easier to diagnose with a DNA test. [press release]
01.07.11 New Approach to Link Genome-Wide Association Signals to Biological Function
- Genome Web - Team Finds Ties Between Open Chromatin Regions and Functionally Important GWAS Variants 01.07.2011
- Nature - Open chromatin and hematologic traits 27.07.2011
Researchers have developed a new strategy to improve the outcome of genome-wide association (GWA) studies. GWA studies involve rapidly scanning markers across the genomes of many people. By doing this, scientists can look for the association between certain genetic markers or variants within the population, and a particular trait, including disease. [press release]
15.06.11 A knockout resource for mouse genetics
- Science Daily - A Knockout Resource for Mouse Genetics: Mouse Gene Knockout Resource Will Empower Mammalian Gene Studies for a Generation 16.06.2011
An international consortium of researchers report that they have knocked out almost 40 per cent of the genes in the mouse genome. The completed resource will power studies of gene activity in models of human disease. The results are founded on a novel, efficient production line that is able to target each specific gene in turn. [press release]
14.06.11 Many migraines may have a common genetic basis
- The Irish Times - Why can migraines run in families? 05.07.2011
- Fox News - Scientists Uncover 3 Genes Tied to Migraines 13.06.2011
- Boston Herald - Are migraines inherited? 12.06.2011
A study into the genetic basis of many common forms of migraine has identified three variants that suggest that most forms of migraine have a shared genetic foundation, regardless of how they manifest in the people who have them. [press release]
12.06.11 We are all mutants
- Fox News - X-Men in Us: We Are All Mutants, Scientists Discover 13.06.2011
- The Daily Mail - Why we are all X-men: Scientists discover 60 new genetic mutations in EVERY person 14.06.2011
- BBC Radio 4 - Parents 'pass on fewer mutations' 13.06.2011
Researchers measure directly the numbers of mutations in two families, using whole genome sequences from the 1000 Genomes Project. The results also reveal that human genomes, like all genomes, are changed by the forces of mutation: our DNA is altered by differences in its code from that of our parents. [press release]
08.06.11 Bone cancer, from lab to clinic
- Science News Line - Bone Cancer, from the Lab to the Clinic 08.06.2011
This study into osteosarcoma - cancer of the bone - will use advances in genomic research and analysis to identify new genes that give rise to the condition and to create personalised blood tests for children and young adults with the condition. It is hoped that the results of this new study will help doctors improve treatment of this difficult disease through better diagnosis and monitoring of this bone cancer. [press release]
03.06.11 New strain of MRSA discovered
- The Telegraph - New MRSA strain found in British cows' milk 03.06.2011
- The Guardian - New strain of MRSA superbug may have spread from cattle to humans 03.06.2011
- The Irish Times - New strain of MRSA superbug discovered in Dublin hospitals 03.06.2011
- BBC News Online - MRSA: New strain of superbug found in cows 03.06.2011
- The Washington Post - Scientists announce discovery of new strain of MRSA 03.06.2011
- The Daily Mail - New form of MRSA found in cows' milk and human flesh wounds 03.06.2011
- Los Angeles Times - New strain of antibiotic-resistant staph appears in cows 03.06.2011
- Fox News - Scientists Find New MRSA Superbug in Cows, Humans 03.06.2011
- New Scientist - New MRSA superbug discovered in cows' milk 03.06.2011
Scientists identify a new strain of methicillin-resistant Staphylococcus aureus (MRSA) which occurs both in human and dairy cow populations. The new strain's genetic makeup differs greatly from previous strains, which means that the 'gold standard' molecular tests currently used to identify MRSA - a polymerase chain reaction technique (PCR) and slide agglutination testing - do not detect this new strain. [press release]
19.05.11 'Master Switch' Gene for Obesity and Diabetes Discovered
- ABC News - Scientists Discover Gene That Controls Obesity 17.05.2011
- Reuters - Scientists find "master switch" gene for obesity 16.05.2011
- Fox News - Scientists Find 'Master Switch' Gene for Obesity 16.05.2011
- The Daily Mail - We've found the gene that makes you fat, claim scientists studying obesity 16.05.2011
Researchers find a gene linked to type 2 diabetes and cholesterol levels is in fact a 'master regulator' gene, which controls the behaviour of other genes found within fat tissues in the body. This study highlights the regulatory gene as a possible target for future treatments to fight metabolic diseases such as obesity, heart disease and diabetes. [press release]
27.03.11 - The gene processes that drive acute myeloid leukaemia
- BBC News Online - Acute myeloid leukaemia genes' role discovered 27.03.11
- Discover Magazine - Discovered: Genetic Misfires That Lead to Acute Myeloid Leukemia 27.03.11
- Genetic Engineering and Biotechnology News - Researchers Find Npm1 Gene Mutations Alone Are Unlikely to Cause AML 28.03.11
Researchers describe how the most common gene mutation found in acute myeloid leukaemia starts the process of cancer development and how it can cooperate with a well-defined group of other mutations to cause full-blown leukaemia. By charting the route towards cancer, the study identifies processes that might serve as targets for new treatments to halt the cancer's development in its tracks and even reverse it. [press release]
10.03.11 Diabetes drug boosts survival rate for melioidosis patients
- Health Canal - Diabetes drug boosts survival rate for melioidosis patients 11.03.11
- Virtual Medical Centre - Diabetes drug improves survival from the life-threatening infectious disease, melioidosis 03.03.11
Scientists show that a drug used to treat diabetes halves the mortality rate of melioidosis, a deadly infectious disease found in Southeast Asia and Northern Australia. The results lay the foundation for the development of new, related drugs, which could use similar mechanisms to treat melioidosis and other infectious diseases in the future, [press release]
08.03.11 Towards a novel non-invasive prenatal diagnostic test for Down syndrome
- NHS Choices - New blood test for Down's syndrome? 07.03.11
- Daily Mail - Blood test for pregnant women reveals if unborn baby has Down's syndrome 07.03.11
- The Telegraph - Blood test developed to check for Down's syndrome in pregnant women's children 07.03.11
- The Mirror - Blood test for Down's syndrome could spare mum's risky invasive examinations 06.03.11
Researchers describe experiments proposing a new non-invasive prenatal diagnostic test for the presence of a third chromosome 21 that is characteristic of Down syndrome. Although the authors suggest a large-scale study is needed, the results suggest the test is accurate and reliable. [press release]
06.03.11 Research doubles number of known genetic markers for coronary heart disease
- USA Today - Scientists link 13 new gene regions to heart disease risk 07.03.11
- Daily Mail - Found at last, the rogue genes behind heart disease 07.03.11
- The Independent - Genetic breakthrough may pave way to new heart and stroke tests 07.03.11
Researchers in two international studies discover 17 new genetic variants linked with increased heart disease risk. The research more than doubles the known firm genetic links to coronary heart disease providing new targets and hope of developing drugs to treat this condition. [press release]
06.02.11 Research links 29 genome regions with common form of inflammatory bowel disease
- The Press Association - 'Genetic links' to bowel condition 07.02.11
An international team of researchers identifies new links between 29 regions of the genome and ulcerative colitis - a common form of inflammatory bowel disease (IBD). The new findings increase the total number of genome regions known to be associated with inflammatory bowel disease to 99. The results point to several biological processes, including the way that our bodies maintain the lining of the intestinal wall, which are likely to play an important role in the development of ulcerative colitis. [press release]
27.01.11 Staying one strep ahead
- New York Times - Pneumonia DNA morphs to dodge vaccines 28.01.11
- Wired News Blog - Genetic History of Pneumonia-Causing Superbug Unraveled 28.01.11
- BBC News - Frisky bacteria war on drugs revealed 29.01.11
- GenomeWeb - Sanger Institute Sequences 240 Pneumococcal Isolates to Track Evolution of Drug Resistance 03.02.11
Research uses DNA sequencing to provide the first detailed genetic picture of an evolutionary war between Streptococcus pneumoniae bacteria and the vaccines and antibiotics used against it over recent decades. By looking at the genomes of 240 samples, the team precisely describe the recent evolution and success of a drug-resistant lineage of the bacteria. The technique could improve infection control measures against bacterial diseases in the future. [press release]
19.01.11 Research provides new kidney cancer clues
- BBC News - Kidney cancer linked to mutated gene 19.01.11
- Cancer Research UK - Study identifies common gene fault in kidney cancer 20.01.11
- Daily Health Report - Genetic Mutation Found in Kidney Cancer Patients 19.01.11
- NHS Choices - Genetic clue to kidney cancer 20.01.11
- Medical News Today - Kidney Cancer: Same Gene Mutation In One Third Of Common Cases 20.01.11
Researchers have identified a gene that is mutated in one in three patients with the most common form of renal cancer. The identification of a frequently mutated gene will provide new insights into the biology of the disease. This biological knowledge will be critical in the continued effort to improve treatment for renal cancer. The gene - called PBRM1 - is the most prevalent to be identified in renal cancer for 20 years. [press release]
06.01.11 Punctuated evolution in cancer genomes
- New York Times - Cancer Can Develop in Catastrophic Burst 10.01.11
- The Scientist - Normal today, cancer tomorrow 06.01.11
- Cambridge News - Chromosome explosions cause some cancers 06.01.11
- Daily Mail - Why some cancers seems to develop in an instant - cells can explode wreaking havoc in DNA 07.01.11
Researchers have found that in one in forty cancer cases, chromosomes explode in a single event, creating hundreds of fragments and many mutations. The new process is particularly common in bone cancers. Although the cause of the shattered chromosomes is not known, the team suggest possible mechanisms to be studied. [press release]

