Month: October 2013

World’s first tissue-engineered trachea implant – success 5 years later

Five years after the world’s first tissue-engineered trachea implant, researchers are declaring the procedure is still a success, with the patient reporting good quality of life and minimal complications, Medical Xpress reported.

The patient, a then-30-year-old mother of two from Colombia, received the implant in 2008 after her own trachea collapsed due to complications from tuberculosis. The implant was created using cells from the trachea of a human donor combined with cartilage cells derived from the patient’s own stem cells and epithelial cells taken from the patient’s trachea.

Ten days after the groundbreaking procedure, the patient was discharged from the hospital. After four months, the transplant appeared to be successful, and the patient did not require any immunosuppressive drugs.

In a study published in The Lancet, researchers report that five years after the initial transplant, the recipient is still doing well and enjoying a normal life. Testing has also revealed that the patient has good lung function and isn’t demonstrating any immunological complications, according to Medical Xpress.

Although scarring on the graft required a stent to be inserted six months after the procedure, the patient is no longer experiencing any symptoms of this minor complication, researchers reported.

“These results confirm what we – and many patients– hoped at the time of the original operation: that tissue engineered transplants are safe and effective in the long term,” said Paolo Macchiarini from the Karolinska Institutet in Stockholm, Sweden, who operated on the patient.

Macchiarini noted that he and his fellow researchers hope to improve upon the procedure in the future to avoid complications like the minor scarring seen in the patient. They also hope to continue with clinical trials in order to further demonstrate that this type of procedure can be integrated into routine practice.

According to MedPage Today, several other successful trachea implants have been completed since 2008, including one on a 2-year-old South Korean girl born without a windpipe and another on a 36-year-old cancer patient.

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FDA reviews 2 promising new drugs for hepatitis C

Doctors may soon have two new drug options for patients with hepatitis C, just as the liver-destroying virus becomes a major public health concern for millions of baby boomers.

The Food and Drug Administration holds a public meeting this week to review two experimental medications from Johnson & Johnson and Gilead Sciences. The new drugs, if approved, could offer a quicker, more effective approach to eliminating hepatitis C, a blood-borne disease blamed for 15,000 deaths in the U.S. this year.

In a review posted online Tuesday, the FDA reported that J&J’s drug simeprevir has a slightly higher cure rate than currently available treatments, though it also caused rashes and sunburn in some patients.

On Thursday the FDA will ask a panel of outside experts whether the drug should carry warnings about rashes and sunburn on its label. The agency is not required to follow the panel’s advice, though it often does.

The meeting comes at a time when federal health officials are urging baby boomers to get tested for the virus, which can go unnoticed for decades before causing symptoms.

Between 3 million and 4 million Americans are infected with hepatitis C, and people born between 1945 and 1965 are five times more likely to have it than people of other age groups, according to the Centers for Disease Control and Prevention.

Many baby boomers contracted the virus by sharing needles or having sex with an infected person in their youth. The disease was also spread by blood transfusions before 1992, when blood banks began testing for the virus.

“If something is not done soon, all these people who were infected in the 60s and 70s are going to start experiencing the long-term consequences of liver disease,” said Gaston Picchio, head of hepatitis drug development for J&J’s Janssen Therapeutics unit.

Most people with hepatitis C do not even know they have the virus until after liver damage has occurred, causing abdominal pain, fatigue, itching and dark urine.

For most of the last 20 years, the standard treatment involved a grueling one-year regimen of pills and injections that caused flu-like symptoms and cured less than half of patients. Many patients failed to complete the full treatment cycle. Others delayed starting treatment at all in the hopes that more effective treatments would come along.

Two drugs approved in 2011 kicked off a new effort to treat the disease. Research shows that adding the two new drugs — Vertex Pharmaceuticals’ Incivek and Merck & Co.’s Victrelis — to the older drug cocktail can boost cure rates to between 65 and 75 percent.

And the drugs the FDA is reviewing this week have the potential to push cure rates even higher.

J&J’s simeprevir cured 80 percent of patients who had not previously been treated for the disease, according to the FDA’s review. Additionally, the vast majority of patients were able to cut their treatment time in half to 24 weeks, compared with the usual 52 weeks. The New Brunswick, N.J., company is seeking approval to combine the daily pill with the older treatment regimen for patients with the most common form of the virus. J&J developed the drug with Swedish drugmaker Medivir.

On Friday, the same FDA panel will review another hepatitis C drug from Gilead Sciences Inc. that some analysts say will become the first-choice for treating the disease. The pill, known as sofosbuvir, has been shown to cure up to 90 percent of patients after just 12 weeks of therapy, according to one company study. Additionally, analysts believe the drug will eventually be used without interferon, the injectable medication used in the current drug cocktail that causes nausea, diarrhea and other unpleasant side effects.

Gilead is racing against other drugmakers to develop the first all-pill approach to treating hepatitis C, long viewed as the holy grail by drugmakers. Similar efforts are underway from Abbott Laboratories, Bristol-Myers Squibb Co., Vertex Pharmaceuticals and others.

Pharmaceutical industry consulting firm Decision Resources estimates the market for hepatitis C drugs will grow to more than $23 billion by 2018. Sales of the drugs are expected to decline to $17.5 billion by 2021 as more patients are cured of the virus.

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A text message saves life in Sweden

CPR can significantly increase the survival rate for cardiac arrest victims, but finding someone who knows the proper way to do it at a moment’s notice may be difficult.

Now, a new system aims to change that. By using mobile geographic positioning services (GPS), people trained in CPR are alerted via mobile phone and given the location of a suspected cardiac arrest.  It is happening in Sweden, where over 2 million people are trained in the life-saving procedure.

The program is called SMSlifesavers, and it is a unique research project run by Stockholm South General Hospital and Karolinska Institute. The program uses GPS on mobile phones to identify and quickly alert rescuers.

“Lots of people in Sweden, as well as in America I guess, are educated and really skilled in CPR, but the problem is lots of people don’t get to use their skills, and we are trying to figure out a way to contact them… using a text message or SMS, seems like a fairly easy idea,” David Fredman, project manager for SMSlifesavers, who is also a nurse at Stockholm South General Hospital in Sweden told Dr. Manny Alvarez in an interview for FoxNews.com.

When an emergency call is received by the Swedish equivalent of 911, the location of the victim is determined geographically. If a cardiac arrest is suspected, the emergency operator engages a positioning system that locates mobile phone users in the SMSlifesaver network.  If a volunteer is located near the site of the suspected cardiac arrest, the rescuer is alerted through the mobile phone along with ambulance and emergency services.

“We are using GSM technology,” said Fredman. “This is not based on smartphones, so you can use it on any platform, as long as you have a phone … We don’t need your fancy phones, we need your fancy skills.”

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Researchers Link DDT Exposure To Obesity Generations Later

Washington State University researchers have been studying how DDT affects rats. They found that three generations after rats were exposed to the insecticide, more than 50 percent of the females and more than 60 percent were considered obese.

Michael Skinner, who conducted the study, said DDT exposure may be turning off and on gene sequences. That leads to a higher likelihood of obesity, passed from generation to generation.

“What your great-grandmother was exposed to when she was pregnant might actually influence your susceptibility to develop that disease,” Skinner said.

This is known as trans-generational epigenetic inheritance, where gene functions are altered but the DNA is not. Skinner has found these sorts of changes in gene function with other toxicants as well. The list includes bisphenol-A, more commonly known as BPA, dioxins, and fungicides.

Skinner says the findings in this study correlate with the high rates of obesity now – about three generations after most Americans were exposed to the insecticide.

The study did not find increased obesity rates until the third generation. Skinner said a fourth generation of rats also had increased rates of obesity. He said he suspects that once genes have this increased likelihood of obesity, the trait will be passed to subsequent generations.

That could continue to affect obesity rates.

“Two individuals, one with susceptibility [to obesity] and one without, on the same exact diet, with the same exact exercise, the one with susceptibility to develop obesity will develop obesity,” Skinner said.

DDT has been banned in the United States for more than 40 years.

More recently the World Health Organization has approved the insecticide to fight malaria in African countries and India. Skinner worries about the generational affects increased DDT use could have on those countries.

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Eat butter not low-fat spreads, says heart specialist

Aseem Malhotra says saturated fat is not a problem, low-fat products are often full of sugar and statins are over-prescribed

Butter, cheese and even red meat are not as bad for the heart as has been maintained, a cardiologist has said in a leading medical journal, adding that it is time to “bust the myth” of saturated fat.

Aseem Malhotra, interventional cardiology specialist registrar at Croydon University hospital, London, also argues that statins have been over-prescribed because of the government’s obsession with lowering cholesterol in an attempt to reduce heart disease – and that the side-effects outweigh the benefits for millions of people who take them every day.

Trans-fats found in many fast foods, bakery goods and margarine are indeed a problem, Malhotra writes in the British Medical Journal. But saturated fats in milk, cheese and meat are another matter.

The insistence that saturated fat must be removed from our diet has paradoxically, he says, increased the risk of cardiovascular disease. “Recent prospective cohort studies have not supported significant association between saturated fat intake and cardiovascular risk,” he argues. “Instead, saturated fat has been found to be protective.”

He adds that it may depend on what sort of foods the saturated fat comes from. Dairy products contain vitamin D, a lack of which has been linked to increased heart disease, and calcium and phosphorus, which may have blood pressure lowering effects. Eating processed meat has been linked to higher rates of heart disease and diabetes, but not red meat.

Malhotra says people have wrongly embraced low-fat products thinking they are better for their health or will help them lose weight, when many are full of sugar. “Last week I saw one patient in her 40s who had had a heart attack,” he told the Guardian. “She said she had gained about 20kg in the last six months. She had been drinking five low-fat drinks a day.”

He calculated that each 450ml flavoured milk drink contained about 15 teaspoons of sugar, which meant she had consumed 75 teaspoons of sugar each day.

He tells his patients that butter and cheese – though not processed cheese – are better for them than low-fat spreads and that the odd steak will not hurt. Rather than take statins, he said, people with cardiovascular risks should eat a Mediterranean diet, rich in olive oil, fruit, vegetables, fish and nuts. He pointed to a recent study that showed that adopting a Mediterranean diet after a heart attack is three times more effective in preventing further illness than statins.

“In the UK eight million people take statins regularly, up from five million 10 years ago,” he writes. “With 60 million statin prescriptions a year, it is difficult to demonstrate any additional effect of statins on reduced cardiovascular mortality over the effects of the decline in smoking and primary angioplasty [a technique used by doctors to widen the arteries].”

In the original trials carried out by drug firms, only one in 10,000 patients given statins suffered a minor side-effect. But among 150,000 patients in a “real world” study – people who had been routinely given statins by their GP – 20% had side-effects that were so unacceptable to them that they stopped taking the pills, including muscle pains, stomach upsets, sleep and memory disturbance, and erectile dysfunction.

Neither Public Health England nor the British Heart Foundation agreed with Malhotra’s argument. Peter Weissberg, medical director at the British Heart Foundation, said: “Studies on the link between diet and disease frequently produce conflicting results because, unlike drug trials, it’s difficult to undertake a properly controlled, randomised study. However, people with highest cholesterol levels are at highest risk of a heart attack and it’s clear that lowering cholesterol, by whatever means, lowers risk.”

“Cholesterol levels can be influenced by many factors including diet, exercise and drugs, in particular statins. There is clear evidence that patients who have had a heart attack, or who are at high risk of having one, can benefit from taking a statin. But this needs to be combined with other essential measures, such as eating a balanced diet, not smoking and taking regular exercise.”

Alison Tedstone, director of diet and obesity at Public Health England, said: “PHE recommends that no more than 11% of person’s average energy intake should come from saturated fats, as there is evidence to show increased levels of saturated fats can raise blood cholesterol levels, in turn raising the risk of cardiovascular disease.

“The government’s advice is based on a wealth of evidence. The BMJ article is based on opinion rather than a complete review of the research.

“Evidence specifically linking sugar to cardiovascular disease is limited; however, on average the population needs to reduce its sugar intake. Eating more calories than we need, irrespective of whether they come from sugar or fat, over time leads to weight gain. Being overweight or obese increases the risk of heart disease, stroke, and type 2 diabetes.”

But Malhotra got support from those who think sugar is a leading cause of obesity and heart disease. Robert Lustig, paediatric endocrinologist at the University of San Francisco and author of Fat Chance: The Bitter Truth about Sugar, said: “Food should confer wellness, not illness. Real food does just that, including saturated fat. But when saturated fat got mixed up with the high sugar added to processed food in the second half of the 20th century, it got a bad name. Which is worse, saturated fat or added sugar? The American Heart Association has weighed in – the sugar many times over. Plus added sugar causes all of the diseases associated with metabolic syndrome.

Instead of lowering serum cholesterol with statins, which is dubious at best, how about serving up some real food?”

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Every child should get free vitamins to stave off rickets

Every child in the country should be given free vitamins by the NHS in order to stave off the return of rickets, the Chief Medical Officer for England has said.

Experts said the changes should be introduced because too many children were being denied vital nutrients by poor diets, while getting too little sunshine because they spend too much time indoors on computers and gaming consoles.

In other cases, parents have become so worried about skin cancer that they smother children in too much sunscreen when they do go outside, inadvertently increasing their risk of rickets, which is caused by vitamin D deficiency, doctors said.

The bone-deforming disease – which was rife in the Victorian era – had been virtually wiped out, but has returned and risen five-fold in the past 15 years, figures show.

Prof Dame Sally Davies, has asked the National Institute for Health and Care Excellence (Nice) to examine whether to introduce free vitamins for all under-fives, but she said she believed it would be cost-effective, and was now necessary to reverse the “appalling” return of the disease.

As well as causing brittle bones, bow legs and other deformities, deficiencies of vitamin D can be fatal, causing a type of heart failure.

Estimates suggest that 40 per cent of children have levels of the vitamin below recommended thresholds, because of a combination of poor diets and lack of exposure to sunshine.

Currently, parents are advised that under-fives should have daily vitamin drops, but they are only given free to deprived families as part of Healthy Start programs.

NICE will examine whether all children between six months and the age of five should receive the vitamins A, C and D via drops or tablets.

Prof Davies said: “We know that many children, not just in vulnerable groups have vitamin deficiencies. We are seeing again rickets.. it is appalling.”

She said a scheme in Birmingham to offer free vitamin D supplements to all children has halved the number of cases of rickets and other vitamin D deficiency problems in the area.

Between 1998 and 2011, the number of cases of rickets admitted to hospital each year increased more than five-fold, from 147 to 762, official figures show.

Doctors said the disease had returned because today’s children spend far more time indoors on their computers than previous generations, instead of playing outside with friends, often eating poorer diets.

Messages to protect children from skin cancer meant some parents were smothering on too much sunscreen, so that their offspring did not absorb enough vitamin D.

Dr Sarah Jarvis, a GP in inner city London, said she has seen increasing cases in recent years: “Children just don’t spend as much time outside as they did in the past, and parents who have taken note of messages to protect children against skin cancer are sometimes too extreme with the sunscreen, so that children don’t get any exposure.”

Doctors said children were less likely to be given cod liver oil, a good source of vitamin D, which was often given to previous generations, and sometimes rejected the types of food such as oily fish which contain it.

The best source of vitamin D, which is essential for keeping bones and teeth healthy, is sun on the skin but it also occurs in some foods, such as oily fish and eggs, and is added to some items such as fat spreads and breakfast cereals.

Vitamin A, found in dairy, fortified fat spreads, carrots, sweet potatoes, swede, mangoes and dark green vegetables such as spinach, cabbage and broccoli is essential for strengthening the immune system, vision and maintaining healthy skin. Vitamin C, which boosts the immune system and helps the body absorb iron, can be found in many fruits and some vegetables.

Dr Tim Cheetham, a consultant pediatrician at Royal Victoria Infirmary in Newcastle, said: “There are combinations of reasons – diet and also ethnic background play a part, because dark skin absorbs less vitamin D, but certainly reduced exposure to sunlight is one of the reasons why we are seeing increasing cases.”

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Warning over daily aspirin use

Telling people to take a daily aspirin to ward off heart disease may do them more harm than good, experts have claimed.

Thousands of patients at high risk of heart disease and stroke take an aspirin each day because studies have suggested it can lower the risk of the conditions by up to 10 per cent, while some evidence suggests it can also protect against cancer.

But daily use of the drug is also known in some cases to cause complications such as internal bleeding and haemorrhagic stroke – a stroke caused by a burst blood vessel rather than a blockage.

Experts from Warwick University reviewed existing evidence and found that there were various reported benefits of taking aspirin each day, including a 10 per cent drop in heart attacks and stroke, and a 15 per cent drop in heart disease.

These reductions alone could result in between 33 and 46 fewer deaths per 100,000 people taking the treatment, they reported in a paper published by the National Institute for Health Research.

Some studies suggested it could prevent 34 deaths from coloretal cancer per 100,000 patients.

But daily use of the drug was also linked to a 37 per cent increase in gastrointestinal bleeding and a 32-38 per cent higher risk of haemorrhagic stroke, leading to 68-117 and 8-10 more deaths per 100,000 patients respectively.

Aileen Clarke, Professor of Public Health Research at Warwick University, said: “There is an incredibly fine balance between the possible benefits and the risks of the intervention.

“We need to be extremely careful about over-promoting aspirin intervention without having first fully understood these negative sideeffects.”

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London uses van with X-ray machine to find tuberculosis

London may be famed for its historic sites, double-decker buses and West End shows, but it now has a more dubious distinction: It has become the tuberculosis capital of Western Europe.

In response, health officials are taking to the streets in an effort to stop the spread of the infectious lung disease, with a high-tech white van equipped with an X-ray machine that drives around London offering free check-ups. Similar vans were once commonly used in Europe and the US in the 1950s but most disappeared about two decades later when TB rates dropped. But in recent years, the disease has surged in the UK.

Last year, London had more TB cases than the Netherlands, Belgium, Greece and Norway combined. It also had more TB than African countries including Eritrea and Gambia.

“We kind of took our eye off the ball and now TB has become a big problem again,” said Dr. Alistair Story, who runs the mobile TB van for University College London Hospitals. He said the vast majority of TB in the UK is among the homeless, drug users and prisoners because they live in cramped, close conditions, which makes them susceptible to infections. Despite the belief that TB is being imported into the UK by recent immigrants, Dr Story said their rates of infection are low.

“It’s certainly not the case that we could have closed the borders and avoided the problem,” he said, pointing out that other European countries with high levels of immigration, including France and Germany, have not had similar spikes of TB. Last year, London had about 3,500 TB cases.

Tuberculosis is a highly infectious bacterial disease often spread by coughing or sneezing and kills more than 1 million people worldwide every year. It most often attacks the lungs and is highly treatable. More than 95 per cent of TB deaths occur in developing countries and experts are increasingly concerned about the rise of drug-resistant strains, which require more toxic drugs to treat.

London’s Dh2.8 million (UK pound 460,000) TB van has an X-ray machine whose scans can be instantly read by a radiographer. On average, the van picks up about one new TB case per week and screens about 10,000 people a year. If an X-ray looks worrying, staffers call a hospital to arrange confirmatory tests. The entire process of getting an X-ray and its results takes about 90 seconds.

On a recent weekday morning, a steady trickle of patients streamed into the van after getting a ticket for a free X-ray from a nearby homeless shelter. To convince homeless people to get tested, the van relies on former TB patients including Horace Reid. In 2009, Reid got tested on the van after he and several friends ran to catch a bus.

“I didn’t know anything was wrong until I missed the bus and couldn’t breathe,” he said. “(The doctors) told me I had TB and that I could die,” he said. Reid, 58, eventually recovered and now tries to convince skeptics to get an X-ray.

Dr. Norman Edelman, senior medical adviser at the American Lung Foundation, said the van is a practical attempt to curb TB.

“The people most likely to get TB are the hardest to find, so it’s good to go out looking for them,” he said.

Danny Hastie, 20, said despite getting sick numerous times last year, he didn’t bother seeing a doctor. Hastie was recently in prison and has been living on the streets for more than a year.

“I heard about this van and thought I would give it a go,” he said. “It’s (scary) at first because you’re thinking, ‘oh, I might have a chest infection,’ but when they say that you’re clear, it puts your mind at rest.”

British experts said the van was a good way of finding cases of TB among the homeless but said wider screening tests were needed to tackle the problem.

Dr. Ajit Lalvani, chair of infectious diseases at Imperial College London, said 70 per cent of people with latent TB who arrive in Britain are missed. They aren’t currently infectious, but Lalvani said the TB bacteria could sicken them in the future and cause them to infect others. Catching these patients would require a more expensive blood or skin test that isn’t commonly used.

“There is a vast reservoir of TB that comes into this country silently,” he said. “The mobile van is providing a great service, but until we test more widely, we will never get rid of TB in the UK.”

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Apps help patients with diabetes monitor their disease

Diabetics have a good deal of facts to maintain track of when it comes to their wellbeing. The good news is, there are a couple apps out there to support them take care of it all.

Glooko

Individuals can hook up this application to a exclusive cable in order to download their glucose readings to their mobile phone, allowing for them to keep an eye on their degrees on-the-go. Nevertheless the instrument is nevertheless awaiting acceptance from the U.S. Meals and Drug Administration for use as an over-the-counter remedy for diabetic issues management, patients can nevertheless obtain the application for free of charge and buy the accompanying cable for $39.ninety five.

GoMeals

Diabetics can make healthier, additional knowledgeable foodstuff choices with the assist of the GoMeals application. The totally free application is preloaded with dietary details from eating places and grocery suppliers and also contains a cafe locator so customers can uncover healthful solutions nearby. People can also employ the app’s glucose tracker to make absolutely sure they are undertaking a superior work retaining their degrees.

Carb Counting with Lenny

This kid-helpful app aids diabetic children master how to count carbs and regulate their health issues. The totally free resource is just one of numerous resources readily available for young ones on Lenny-Diabetes.com.

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Over 1000 Human Genomes Sequenced In Record Breaking Project

A multinational team of scientists reports that they have successfully sequenced 1,092 human genomes from individuals across the globe.

Their new study is the first to break the “1,000 genomes barrier.”

The researchers say the feat is a collegial effort to equip biologists and physicians with information that can be used to understand the normal range of human genetic variants so a patient’s diseased genome can be interpreted in a broader context.

“The DNA donors in the study were not known to have any diseases, so the study gives us the genomic background we need for understanding which genetic variations are ‘within the normal range,’” said Aravinda Chakravarti, Ph.D., professor of medicine and pediatrics and a member of the Institute of Genetic Medicine at the Johns Hopkins School of Medicine in a prepared statement. “With this tool, scientists now have a standard with which they can compare the genome of someone with diabetes, for example.”

Chakravarti said this feat will increase opportunities for understanding a patient’s disease and creating targeted, individualized treatment.

The international group of researchers sampled individuals from 14 different populations and sequenced their full genomes. The sample was based on their ancient migratory history and their genetic relationship to the other populations studied.

Within each population, healthy, unrelated donors were randomly chosen for blood draws. The samples were first transformed into cell lines that can be stored and grown indefinitely so that they will always be available for future studies.

The first human genome to be sequenced made clear that as much as 98.5 percent of human genetic material does not encode proteins as previously thought.

Scientists now know the role of some of the non-protein-coding regions, and that there is reason to suspect that at least some of it plays a role in various disease susceptibility and prevalence.

“The 1000 Genomes Project started at the beginning, with the whole genome and with no bias in the search for disease-related variants toward protein-coding genes,” Chakravarti said. “Regulatory sequences and sequences we still don’t understand were also catalogued, so this information widens the areas of the genome we can search when looking for disease-causing variants.”

The genetic variations the researchers found in the populations analyzed were categorized by how frequently they appeared in the individuals tested. The variants seen in more than five percent of the samples were classified as common. Samples below that were considered of low-frequency, or rare.

The 14 populations sampled included groups from Europe, Africa, East Asia and America. Most of the common variants had already been identified in previous studies and their frequencies varies little between ancestry groups.

The researchers found that among rare variants, the healthy people in their study possessed as many as 130 to 400 protein-altering variants, and 10 to 20 variants that destroy the function of the proteins they encode.

In the healthy people, they also found two to five variants that damage protein function, and one or two variants associated with cancer.

Chakravarti said that several factors allow people to survive with so many errors in our genome, including one that genes occur in pairs, but our bodies require one normal copy to work.

Another error is that a “redundant” gene elsewhere in the genome can sometimes compensate for a specific deficiency. Also, some deleterious genes are only turned on in response to certain environmental cues that a particular individual may never encounter.

“We are all walking natural experiments; some of our genes are switched off, some are active, whilst others are overactive,” said Professor Gil McVean of Oxford University, the lead author for the study. “Our research has found that each apparently healthy person carries hundreds of rare variants of genes that have a significant impact on how genes work, and a handful (from two to five) of rare changes that have been identified as contributing to disease in other people.”

The study was designed so that researchers have access to living cells from all the individuals whose genomes have been sequenced. Scientists can now study how differences in the biology of these cells correlate with genetic differences.

“There are variations that jump out from the data as looking ‘a bit bad for you’, for example mutations in regions that regulate genes are likely to be ‘bad news’ — possibly doing something dramatic to how cells behave,” said Dr Richard Durbin from the Wellcome Trust Sanger Institute, co-chair of the 1000 Genomes Project. “Using our data you can now look to see if natural selection has been getting rid of such mutations — giving you a clue as to how harmful these variants might be.”

The team’s work is already being used to screen for cancer genome mutations that might identify therapeutic pathways. It is also being used to interpret the genomes of children with developmental disorders.

“Our research shows that you can take localism much further: for example, even just within the UK, Orkney islanders will have different variations from mainlanders, and will be different again from those from other nearby islands,” McVean added. “In the future we would like to reach the scale of having a grid of individuals giving us a different genome every couple of square kilometers but there is a long way to go before we can make this a reality.”

Sir Mark Walport, Director of the Wellcome Trust remarked that it is remarkable we have gone from completion of the first human genome sequence in 2003, to sequencing more than 1,000 in less than a decade.

“This study is an important contribution to our understanding of human genetic variation in health and disease and the DNA sequences are freely available for analysis and use by researchers,” Walport said.

The next phase of the project will include as many as 3,000 individuals, according to Dr. Fuli Yu, assistant professor in the Baylor College of Medicine Human Genome Sequencing Center.

“The impact of this project will be huge,” said Yu. “Here we have information on nearly 1,100 people, including their rare and common single nucleotide polymorphisms (SNPs) along with insertions and deletions of the genetic material and large structural variations in the DNA itself.”

The researchers reported their findings in the journal Nature.

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