For years, scientists have recognized that many of the world's most dangerous diseases have an underlying genetic component. Even your susceptibility to conditions like heart disease and lung cancer, diseases closely tied to lifestyle factors like smoking and lack of exercise, are believed to be heavily influenced by your genetic makeup. Unfortunately, technological limitations have long prevented researchers from gleaning as much useful information as possible from the genetic screenings that search for genes that might underpin these diseases.
But recently, advances in the world of genetics have been coming in greater and greater strides than ever. Here are ten recent genetic discoveries, and the diseases they may one day help to treat. 10) Epilepsy gene LGI2 Everyone knows that DNA is nature's most basic building block, with many species sharing similar, if not identical, versions of the same genes. But it can be easy to forget just how universal it really is. Take epilepsy gene LGI2 for example.
It was actually first discovered inLagotto Romagnolo dogs (better known as the dogs used to track down underground mushrooms known as Truffles), but has implications for better understanding childhood epilepsy. Epilepsy is the most common neurological condition in children. The gene discovery was made by a group of researchers at the University of Helsinki led by Dr. Hannes Lohi, who says it will open up many avenues of research that will provide insight into the mechanisms underlying neurological development in the adolescent brain. 9) BOULE, the world's most universal sexy gene We say "sexy gene. By that, we mean a gene specific to sex. Last year, researchers at Northwestern University Feinberg School of Medicine discovered that the gene BOULE is not only responsible for sperm production, it's actually the first known gene to be required for sperm production in species ranging from insects to mammals.
"This is the first clear evidence that suggests our ability to produce sperm is very ancient, probably originating at the dawn of animal evolution 600 million years ago," said Eugene Xu, who led the study. "Our findings also show that humans, despite how complex we are, across the evolutionary lines all the way to flies, hich are very simple, still have one fundamental element that's shared. " Discovery of the gene's linchpin role in sperm production have countless potential applications in the public health sector, including male contraception, male infertility, and even development of pesticides to fight against disease-carrying parasites. 8) SIGMAR1 mutation causes juvenile ALS Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a devastating neurodegenerative disorder characterized by the loss of motor neurons in the brain and spinal cord.
When the disease begins progressing before the age of 25 — as it did in physicist Stephen Hawking — it is known as juvenile ALS. The genetic underpinnings of ALS are poorly understood, so the discovery of genetic associations always has exciting implications for new areas of research. Just this month, researchers from the Kingdom of Saudi Arabia identified a mutation on the SIGMAR1 gene associated with the development of juvenile ALS. The gene affects a class a proteins the authors suspect is involved in motor neuron function and movement disorders, and is one that the researchers say could soon become a potential therapeutic target. ) MYB-NFIB Fusion gene found in 100% of examined adenoid cystic carcinomas Fusion genes are created when a chromosomal mutation causes two otherwise healthy genes to join together. For many years, it was believed that fusion genes were implicated only in blood and bone marrow cancers like leukemia, but a recent study by researchers at the Sahlgrenska Academy at the University of Gothenburg, Sweden found that the MYB-NFIB fusion gene was found in 100% of adenoid cystic carcinomas — a glandular cancer usually fond in the head, neck, and breasts.
We suggested back in 1986 that the MYB gene might be involved in this form of cancer, but it's only recently that we've had access to the tools needed to prove it," says Goran Stenman, who led the team that made the discovery. He continues: Now that we know what the cancer is down to, we can also develop new and more effective treatments for this often highly malignant and insidious form of cancer... One possibility might be to develop a drug that quite simply turns off this gene. ) Mutation in the PRPS1 gene linked to a progressive hearing loss in males Postlingual nonsyndromic hearing impairment (DFN2 for short) is a rare form of progressive deafness in males. Boys with the disease have been identified in the US, Great Britain, and China, and typically begin losing their hearing between the ages of 5 and 15 and continue to experience hearing loss over the course of their lives. University of Miami Miller School of Medicine researcher Xue Zhong Liu led a team that recently discovered that the PRPS1 gene plays an indispensable role in the development and maintenance of the middle ear.
PRPS1 is an interesting example of a human disease gene in which gain of function or loss of function mutations cause several different and distinct hereditary disorders," said Liu. The fact that PRPS1 is only the second identified gene associated with NFD2 makes it a groundbreaking discovery, but its role in the development of the middle ear makes it even more important. Dr. James F. Battey, director of the National Institute on Deafness and Other Communication Disorders (NIDCD) said: This discovery offers exciting therapeutic implications... ot only does it give scientists a way to develop a targeted treatment for hearing loss in boys with this disorder, it may also open doors to the treatment of other types of deafness, including some forms of acquired hearing loss. 5) The discovery of mutations in MCF2L could lead to therapies for osteoarthritis sufferers Osteoarthritis is a debilitating disease that affects upwards of 40% of people over the age of 70, and an estimated 27 million people in the US alone.
Historically speaking, the complicated nature of the condition has made it especially difficult for researchers to identify what are believed to be a number of interrelated genetic causes; despite the prevalence of osteoarthritis, only two genetic links had ever been made. But by collaborating with The 1000 Genomes Project, an international team of scientists led by researchers at The Sanger Institute was able to conduct a massive genetic screen (eventually involving over 50,000 people) to identify a third genetic link: MCF2L.
Alan Silman, the Medical Director of Arthritis Research UK, said: Osteoarthritis is a complicated disease with many genetic causes. However, it has proved very difficult to discover the genes involved and help us to identify potential areas of treatment. We are delighted that investigators at the Sanger Institute have been able to identify a new gene connected with this painful condition and offer new lines of research for possible treatments.
We are also excited that employing the technique of using the 1000 Genomes Project data to investigate genetic associations in far greater depth could reveal even greater insights into this debilitating disease. 4) A large scale multiple sclerosis (MS) gene study doubles the number of genes known to play a role in the disease Research published this month in the journal Nature uncovered 29 new genes that underlie the development of MS, an inflammatory disease that leads to communication issues between nerve cells in the brain and spinal cord.
The impressive genetic study drew on resources from twenty-three research groups from 15 countries; according to the researchers, their findingsdouble the number of genes implicated in the onset and progression of MS. "We now know just how complex multiple sclerosis is," said geneticist Jonathan Haines, director of Vanderbilt University's Center for Human Genetic Research (CHGR) and one of the project's head researchers. These new genes give us many new clues as to what is happening in MS and will guide our research efforts for years to come. " 3) RGS17 could be used to identify patients who would benefit from more aggressive lung cancer screening Despite the fact that smoking certainly contributes to the development of lung cancer, the fact remains that a significant genetic component makes lung cancer the leading cause of cancer related disease and death.
Now Cancer Biologists at the University of Cincinnati showed that identifying the gene RGS17 in patients with a history of lung cancer could help improve courses of treatment for the disease. "Understanding how the RGS17 gene impacts cancer development could change clinical diagnosis and treatment as radically as discovery of the breast cancer genes (BRCA1 and BRCA2) did," explains Marshal Anderson, who led the study and has headed up the multi-institutional Genetic Epidemiology of Lung Cancer Consortium (GELCC) since 1997. A proven genetic test could help us identify people at risk before the disease progresses. " 2) Massive genetic screen uncovers 5 new genes that increase the risk of developing Alzheimer's Disease Cardiff University's Julie Williams recently led the world's largest-ever genetic investigation of Alzheimer's, screening around 20,000 people with the disease and 40,000 unaffected individuals to identify five new Alzheimer's-linked genes, doubling the total number of genes known to increase the risk of developing Alzheimer's.
The results of the investigation, which were published in an April issue of Nature Genetics (no subscription required) are helping researchers identify promising new avenues of research. Williams said: "What's exciting is the genes we now know of - the five new ones, plus those previously identified – are clustering in patterns. " She continues: This study, plus our previous studies, means that we are beginning to piece together the pieces of the jigsaw and gain new understanding.
We still have a long way to go – but the jigsaw is beginning to come together. If we were able to remove the detrimental effects of these genes through treatments, we hope we can help reduce the proportion of people developing Alzheimer's in the long-term. 1) International team identifies 13 new gene sites associated with heart disease The World Health Organization estimates that heart diseases claim upwards of 17 million lives a year, making them the world's deadliest class of diseases.
Just like lung cancer, while environmental factors like smoking and drinking certainly put people at higher risk of developing cardiovascular diseases, there is believed to be a strong genetic component to them as well. In March of this year, an international team of scientists published the results of a study that analyzed the genetic profiles of over 80,000 people, making it the largest screen for heart-disease related genes ever conducted (around ten times larger, to be exact). The study confirmed 10 of 12 previously reported heart-disease-related genes, and identified 13 new ones.
Interestingly, many of the newly identified genes have no known relation to previously identified cardiovascular risk factors like cholesterol or hypertension, which suggests that there are promising therapeutic mechanisms yet to be discovered. "The lack of apparent association with the risk factors we know so well is the source of a lot of excitement concerning these results," explains Dr. Sekar Kathiresan, the director of Preventive Cardiology at Massachusetts General Hospital and one of the study's lead authors. "If these variants do not act through known mechanisms, how do they confer risk for heart disease?
It suggests there are new mechanisms we don't yet understand. " Scientists have for the first time discovered sixteen new sections of the genetic code that relate to lung health -- opening up the possibility for better prevention as well as treatment for lung diseases. An international consortium of 175 scientists from 126 centres in Europe, the USA and Australia identified genetic variants associated with the health of the human lung. Their discovery sheds new light on the molecular basis of lung diseases like Chronic Obstructive Pulmonary Disease (COPD).
It is the first time that these sixteen common genetic variants have been definitely linked with lung function. Researchers say the new pathways discovered could be targeted by drugs. The study was led by Professor Martin Tobin from the University of Leicester, and Professor Ian Hall from The University of Nottingham and Dr Stephanie London from the U. S. National Institute of Environmental Health Sciences. The pioneering research involved a genetic study of 2. 5 million genetic variants in each of 48,201 people across the world.
A smaller number of the most promising variants were then studied in a further 46,411 individuals. The research, part-funded by the UK Medical Research Council (MRC) and the Wellcome Trust, is published today in Nature Genetics. The recent discoveries build on research published by the same authors last year, bringing the total number of genetic variants associated with lung function to twenty six. The same authors also showed, in research published in the American Journal of Respiratory and Critical Care Medicine in June 2011, that variants which predict lung function also predict the disease, COPD.
Professor Martin Tobin, Professor of Genetic Epidemiology and Public Health & MRC Senior Clinical Fellow at the University of Leicester, said: "COPD - a progressive disease that makes it hard for people to breathe - affects around 1 in 10 adults above the age of 40 and is fourth most common cause of death worldwide. "Smoking is the most important risk for developing COPD. Smokers are not all equally likely to develop COPD and differences in susceptibility occur due to the genetic variants people carry. For the first time we understand what so many of these genetic variants are, including the underlying mechanisms that they point to.
We now need to prioritise research to better understand these disease mechanisms and inform improved patient care. "These discoveries could provide the key to new therapies for lung diseases such as COPD. It is too early to say whether this information would be of use as a screening test to predict the development of COPD. Stopping smoking is the best way to prevent COPD. Scientists have identified a genetic mutation in one of the 23,000 human genes that can double the risk of a stroke, which kills more than six million people worldwide each year and is the second top cause of death in developed countries.
A study of thousands of stroke patients in Britain and Germany found a link between the most common type of stroke – a blocked blood vessel leading to the brain – and a genetic variation in a gene known as HDAC9. Although strokes are known to run in families, this is one of the first studies to identify a precise DNA variant in the human genetic code that doubles a person's risk of developing a blocked artery supplying vital oxygen to the brain.
The HDAC9 gene was already known to be involved in the formation of muscle tissue and the development of the heart, but the latest research suggests it is also implicated in a particular kind of illness called large-artery ischaemic stroke. Scientists said the DNA variation occurs on about 10 per cent of the chromosomes carrying the HDAC9 gene. People who inherit two copies of the variant, one from their mother and one from their father, face twice the risk of developing this type of stroke than people with no copies of the gene variant, they said.
The study, published in Nature Genetics and funded by the Wellcome Trust charity, used a relatively new scientific technique of genome-wide association studies to compare the DNA of some 10,000 stroke patients with the DNA of 40,000 people who have not had a stroke. Stroke, or cerebrovascular disease, is among the three most common causes of death and is a main cause of chronic disability and paralysis, especially in the elderly. Ischaemic stroke, caused by a blocked artery to the brain, can be caused by several different kinds of disease, the most common being a narrowing of blood vessels in the neck or head.
About 80 per cent of strokes are ischaemic and one of the most common causes is a blockage in the large cerebral or carotid arteries. Studies on identical twins and members of families with a history of stroke have established a clear genetic component but until now the nature of the precise mutations involved has eluded medical scientists. The hope is that by knowing the genetic faults that increase stroke risks, researchers can design better drugs. "Our study shows that the different subtypes of stroke could involve quite different genetic mechanisms.
This is really fascinating, and if it holds up more generally will move us closer to personalised medicine," Professor Peter Donnelly, of the University of Oxford, said. Peter Coleman, deputy director of research at the Stroke Association, which partly funded the study, said: "Over a third of strokes are caused by a blockage in one of the large blood vessels supplying blood to the brain. Findings from this ground-breaking study appear to show a genetic link which may affect a person's risk of large-vessel stroke" He said the research could lead to new methods of screening and prevention for large vessel stroke.