New genetic clues for rheumatoid arthritis 'cure' By Pallab Ghosh Science correspondent, BBC News 25 December 2013 Last updated at 18:03 Current treatments relieve the symptoms but not for all patients, and there is no cure An international team of researchers has found more than 40 new areas in DNA that increase the risk of rheumatoid arthritis. The work is the largest genetic study ever carried out, involving nearly 30,000 patients. The investigators believe new drugs could be developed to target these areas that could one day provide a cure for the disease. The findings are published in the Journal Nature. The research team compared the DNA of arthritis patients with those without the disease and found 42 'faulty' areas that were linked with the disease. The hope is that drugs can be developed to compensate for these faults. The lead researcher Professor Robert Plenge of Harvard Medical School found that one of these areas produced a weakness that was treated by an existing drug that was developed by trial and error, rather than specifically made to correct the genetic problem. This finding, he says, shows such discoveries could be used to design new drugs. "What this offers in the future is an opportunity to use genetics to discover new medicines for complex diseases like rheumatoid arthritis to treat or even cure the disease," he said. Complex diseases Some have argued identifying genetic weak areas for complex diseases - known as single nucleotide polymorphisms (SNPs) - is not useful. There is little or no evidence, they argue, that "silencing the SNPs" with drugs will relieve any symptoms. But Dr Plenge says the fact that he has found an established drug that treats the symptoms that arise from a particular SNP for rheumatoid arthritis validates this genetic approach. "It offers tremendous potential. This approach could be used to identify drug targets for complex diseases, nut just rheumatoid arthritis, but diabetes, Alzheimer's and coronary heart disease" Fast track The study also found SNPs in the rheumatoid arthritis patients that also occur in patients with types of blood cancer. According to Prof Jane Worthington, director of the centre for genetics in Manchester, this observation suggests that drugs that are being used to treat the cancer could be effective against rheumatoid arthritis and so should be fast tracked into clinical trials. "There are already therapies that have been designed in the cancer field that might open up new opportunities for retargeting drugs," she told BBC News. "It might allow us a straightforward way to add therapies we have to treat patients with rheumatoid arthritis".

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Scientists 'print' new eye cells By Michelle Roberts Health edited18 December 2013 Last updated at 00:54. Many teams are researching different ways to repair the sight-giving cells of the retina Scientists say they have been able to successfully print new eye cells that could be used to treat sight loss. The proof-of-principle work in the journal Biofabrication was carried out using animal cells. The Cambridge University team says it paves the way for grow- your-own therapies for people with damage to the light- sensitive layer of tissue at back of the eye - the retina. More tests are needed before human trials can begin. At the moment the results are preliminary and show that an inkjet printer can be used to print two types of cells from the retina of adult rats―ganglion cells and glial cells. These are the cells that transmit information from the eye to certain parts of the brain, and provide support and protection for neurons. The printed cells remained healthy and retained their ability to survive and grow in culture. Retinal repair Co-authors of the study Prof Keith Martin and Dr Barbara Lorber, from the John van Geest Centre for Brain Repair at the University of Cambridge, said: "The loss of nerve cells in the retina is a feature of many blinding eye diseases. The retina is an exquisitely organised structure where the precise arrangement of cells in relation to one another is critical for effective visual function. The retina sits at the back of the eye "Our study has shown, for the first time, that cells derived from the mature central nervous system, the eye, can be printed using a piezoelectric inkjet printer. Although our results are preliminary and much more work is still required, the aim is to develop this technology for use in retinal repair in the future." They now plan to attempt to print other types of retinal cells, including the light-sensitive photoreceptors - rods and cones. Scientists have already been able to reverse blindness in mice using stem cell transplants. And there is promising work into electronic retina implants implants in patients. Clara Eaglen, of the RNIB, said: "Clearly it's still at a very early stage and further research is needed to develop this technology for use in repairing the retina in humans. "The key to this research, once the technology has moved on, will be how much useful vision is restored. "Even a small bit of sight can make a real difference, for some people it could be the difference between leaving the house on their own or not. "It could help boost people's confidence and in turn their independence." Prof Jim Bainbridge of London's Moorfields Eye Hospital said: "The finding that eye cells can survive the printing process suggests the exciting possibility that this technique could be used in the future to create organised tissues for regeneration of the eye and restoration of sight. "Blindness is commonly caused by degeneration of nerve cells in the eye. In recent years there has been substantial progress towards the development of new treatments involving cell transplantation."

Scientists say they have discovered compelling evidence that diamonds exist in the icy mountains of Antarctica. The researchers have identified a type of rock in the permanently frozen region that is known to contain the precious stones. However recovering any Antarctic mineral resources for commercial purposes is currently forbidden. The research is published in the journal Nature Communications. Diamonds are formed from pure carbon under extreme heat and pressure at depths of about 150km in the Earth's crust. Ice under ice Volcanic eruptions bring the valuable crystals to the surface, usually preserved in another type of bluish rock called kimberlite. The presence of kimberlite has been a clue to significant deposits of diamonds in several parts of the world, including Africa, Siberia and Australia. Now researchers have, for the first time, found evidence of kimberlite in Antarctica. The team found three samples on the slopes of Mount Meredith in the northern Prince Charles Mountains. Diamonds are usually transported from deep within the earth in a rock called kimberlite "The fact they are reporting Group One kimberlites is an important one as diamonds are more likely to be found in this style of kimberlite eruption," said Dr Teal Riley, a survey geologist with the British Antarctic Survey. "However even amongst the Group One kimberlites, only 10% or so are economically viable, so it's still a big step to extrapolate this latest finding to any diamond mining activity in Antarctica." Even if diamonds were plentiful in this inhospitable region, there are still some significant legal barriers to their extraction. The Protocol on Environmental Protection to the Antarctic Treaty, added in 1991, explicitly bans any extraction activity relating to mineral resources, except for scientific purposes. However it is up for review in 2041 and could be subject to change. "We do not know what the Treaty Parties' views will be on mining after 2041 or what technologies might exist that could make extraction of Antarctic minerals economically viable," said Dr Kevin Hughes from the Scientific Committee on Antarctic Research. "An additional issue is that nations outside the Protocol are not bound by its provisions, including the ban on mineral resource activities."

The US space agency has ordered a series of emergency spacewalks to carry out repairs on a broken cooling line at the International Space Station. Nasa said the work to replace a faulty pump module would require two astronauts and three spacewalks - the first of which is planned for Saturday. Half of the cooling system automatically shut down last week after detecting abnormal temperatures. Nasa said the situation was potentially serious but not life- threatening. The pump is associated with one of the station's two external cooling loops, Nasa said in a statement. The two external cooling loops circulate ammonia outside the station to keep both internal and external equipment cool. Nasa said the repairs would take priority over the launch of a supply ship from Virginia, which has now been postponed until January. Each spacewalk is scheduled to last six-and-a-half hours and will be broadcast on Nasa TV. Nasa said last week that it suspected a malfunction had affected a flow control valve inside the pump itself. The teams moved certain electrical systems over to the second loop, but the space agency stressed that the crew and the station were in no danger. Some non-critical systems were powered down inside the Harmony node, the Kibo laboratory and the Columbus laboratory whilst engineers worked to figure out what had caused the problem and how to fix it.

The UK’s leading charity for people affected by sickle cell anaemia is the Sickle Cell Society. Their website contains a wide range of useful information, resources and news items about ongoing research and upcoming fundraising events. Other sickle cell diseases A related condition to sickle cell anaemia is beta thalassaemia, which is caused by a similar mutation thought to have first arisen in Asia. It is estimated that there are 1,000 people in the UK living with beta thalassaemia and most cases are found in people of Mediterranean, Middle Eastern and, in particular, South Asian ancestry. Eight out of 10 babies born with beta thalassaemia in the UK have parents of Indian, Pakistani or Bangladeshi ancestry. Read more about beta thalassaemia. Another related condition is haemoglobin C disease which is thought to affect around 1 in every 1,000 of African and Caribbean ancestry. This is a much less serious condition than sickle cell anaemia and usually causes mild anaemia and in some cases, joint pain. Share: Save: Print: Ratings How helpful is this page? Please leave your rating Login or Register Comments Sickle cell anaemia is a genetic (inherited) blood disorder in which red blood cells, which carry oxygen around the body, develop abnormally. Rather than being round and flexible, the sickle red blood cells become shaped like a crescent (or sickle). These abnormal red blood cells can then clog sections of blood vessels leading to episodes of pain which can be severe. These episodes are called a sickle cell crisis (also known as a vaso- occlusive crisis). They can last from a few minutes to several months, though on average most last five to seven days. The abnormal blood cells have a shorter life-span and are not replaced as quickly as normal; this leads to a shortage of red blood cells, called anaemia. Symptoms of anaemia include tiredness and breathlessness; especially after exercise. Read more about the symptoms of sickle cell anaemia. Complications Symptoms of sickle cell anaemia can have a significant impact on quality of life. Potential complications can be life- threatening. They include: stroke – where the supply of blood to the brain becomes blocked acute chest syndrome – where the lungs suddenly lose their ability to breathe in oxygen; often as a result of infection increased vulnerability to infection pulmonary hypertension – where the blood pressure inside the blood vessels that run from the heart to the lungs becomes dangerously high However, following improvements in preventative treatment, many complications associated with sickle cell anaemia can be avoided and most people with the condition live much longer than previously. Read more about the complications of sickle cell anaemia. When to seek urgent medical advice Due to the risk of life-threatening conditions, it is important to look out for any signs or symptoms that the patient's health has suddenly deteriorated. These include: high temperature (fever) of 38C (100.4F) or above severe pain that develops during a sickle cell crisis that cannot be controlled using over-the- counter painkillers, such as paracetamol or ibuprofen breathing difficulties Read more about when to seek urgent medical advice. Treating sickle cell anaemia Treatment helps reduce the severity and frequency of the symptoms of sickle cell anaemia and prevent complications. In some cases a person with sickle cell anaemia may require regular blood transfusions to help reduce the risks of complications. Read more about the treatment of sickle cell anaemia. What causes sickle cell anaemia? Sickle cell anaemia is caused by a genetic mutation that affects normal development of red blood cells. A genetic mutation is when the instructions found inside all living cells become scrambled in some way meaning one or more of the processes of the body do not work in the way they should. The mutation that causes sickle cell anaemia is often referred to as the sickle cell trait. It is estimated that around a quarter of a million people in England have the sickle cell trait; most of whom have African- Caribbean ancestry. Having the sickle cell trait itself will not cause a person to develop sickle cell anaemia. But if two people with the trait conceive a child then there is a one in four chance that child will be born with sickle cell anaemia. Read more about the causes of sickle cell anaemia. Screening Sickle cell anaemia can be diagnosed with a blood test. In England, all pregnant women are offered screening (either a blood test or questionnaire) to find out if they are a carrier. If they are a carrier, the baby's father should be offered a screening blood test. However, all babies born in the UK are tested for sickle cell anaemia as part of the heel-prick newborn screening test performed by the midwife. Anyone from at risk groups having a general anaesthetic should be tested for the sickle cell trait or thalassaemia because a general anaesthetic temporarily lowers the amount of oxygen in the blood, which could be dangerous for someone with the condition.

EIGHT WAYS OF GENERATING ELECTRIC CURRENT.MANOMITE TECHNOLOGY. A WORLD of increasing energy demands and diminishing resources must necessarily seek novel sources of power. Renewable energy has been a perennially popular topic of conversation in recent years, but the idea far predates all talk of “peak oil”: For example, both wind and solar power are centuries-old ideas. US Patent number US389124, “Solar Cell” dates from 1888, while wind energy is older still: In Europe, windmills have been used to grind grain for much of the last millennium. (However, a windmill was first used to produce electricity relatively recently, in the year 1887 in Glasgow.) Alternatives to fossil fuels and other nonrenewable resources continue to be developed today. Here are 8 of them. Though many involve considerable startup costs and are not really implementable on a large scale, they nonetheless represent exciting new directions of thought. Let’s optimistically hope that they’ll help steer energy production towards a more sustainable future (through cool engineering). 1. Ocean waves This is a story about a buoy and a girl. That’s a horrible pun, but really, it is: Electrical engineer Annette von Jouanne is attempting to harness the power of the sea via a carefully built buoy. The idea is remarkably simple: Anchor a copper wire. Put a magnet around it. Move the magnet up and down (in this case, that’s the job left to the waves). This induces an electric current in the wire, as many will remember from high school physics lab. Inspired by the heaving of the water while surfing off the coast of Hawaii, von Jouanne made the idea bigger and put it in the sea in an attempt to utilize the constantly present kinetic energy of ocean waves. It turns out that the idea works: A buoy she tested in her lab with a simulated average wave produced three kilowatts of power, or enough to power two houses, which provided impetus for further tests. Her first prototypes worked poorly, but, as she says, breakthroughs are almost always born of failures, and the trajectory of her work is optimistic: Over the years, her designs have improved, and she has subsequently seen an increase in both governmental science funding and the interest of clean-energy companies. Von Jouanne remains a leading figure in the rapidly developing field of wave energy research and works in the hope that her buoys will one day help bring clean renewable power to the public. 2. Trash The idea is utopian: a machine that turns trash into energy. In this case, a little bit of utopia has withstood real-world field tests, albeit in a less than utopian locale: The US Army used two refuse-powered generators to power its operations near Baghdad, Iraq. This helped alleviate several problems for the army in hostile conditions, because it meant a reduced need for fuel convoys and garbage runs, both of which were easy targets of attack. This is how the army came to run partly on its own shredded paperwork and food scraps. The system works roughly like this: Dry trash like cardboard and Styrofoam is compressed into pellets and heated until it becomes a synthetic gas somewhat like propane. Meanwhile, food scraps and liquids are fermented into ethanol. The syn-gas and the ethanol are combined to power the generator. The generator does need some external energy as well, but it uses about 5% of the diesel that such a generator would normally require, while the base produces just 1/30th of the trash it ordinarily would. The exploits of the US Army have demonstrated the viability of garbage power, so perhaps it’s time to put our trash to use in a less martial context. 3. Soccer Imagine using the energy generated by a game of soccer to power your reading lamp. That’s exactly the idea behind the Soccket, a soccer ball that stores the kinetic energy generated by its use in play as electrical power. Jessica Matthews, a Harvard undergraduate with roots in Nigeria, wanted to find a way to use soccer, the world’s most popular game, to improve the lives of people in developing countries. The Soccket, which can produce 3 hours of LED light with 30 minutes of play, is the result. Matthews says she hopes her invention can supplant the use of kerosene, recalling visits to Nigeria during which the toxic lamp fuel made it hard for her to breathe. Though limitations of the project are evident — the Soccket’s relatively high cost, the small scale on which it produces power — the idea of creating power out of play is an elegant one. 4. Bicycles Turn your crank, turn on a light? Bike-powered generators can generate a fair bit of power.