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An international research team at the University of Edinburg just discovered that an inactive gene in patient’s brain might be the cause of severe mental disorders such as schizophrenia, bipolar disorder and depression.

The results show that gene ABCA13 plays a crucial role in brain health. More specifically, the gene is responsible for the way fat cells are processed inside the brain, a key element on which further research will be focused.

Lead researcher Douglas Blackwood, professor of Psychiatric Genetics at the University of Edinburgh, said ”this is an exciting step forward in our understanding of the underlying causes of some common mental illnesses.

These risk genes could signpost new directions for treatments.”

Dr Ben Pickard, of the University of Strathclyde, stresses that ”this study is the first to identify multiple points of DNA damage within a single gene that are linked with psychiatric illness. It strongly suggests that this gene may regulate an important part of brain function that fails in individuals diagnosed with these devastating disorders.”

Once again, the importance of DNA analysis show how it will be able to spare many the atrocious pain that comes with severe physical and mental conditions. Genetic analysis and targeted prevention and cure is just proving once again to be the key to a healthy future

As human genome sequencing becomes a hotter subject in today’s medical field, IBM just announced it will join the race to provide cheap DNA analysis.

Many specialized labs, companies and universities have been working on the project for years, and IBM seems to be a bit behind in the game, but tech journalists have gone wild over the news: PC World says that IBM will “expand the life span of humans,” while the New York Times’ John Markoff predicts that the company will cut the cost of DNA sequencing to under $100, “making a personal genome cheaper than a ticket to a Broadway play.”

The IBM approach to genome sequencing is based on passing strings of DNA through tiny holes, just a nanometer wide, drilled on semiconducting materials. Since DNA is charged, by applying a voltage they should be able to get the DNA through the holes. During this process the DNA reading should take place, even though IBM hasn’t yet said exactly how.

IBM has taken up quite a challenge since there are tens of companies ahead of it in the low-cost genome sequencing business. In their favor, we have to consider that DNA analysis is becoming more and more about storage and interpretation of a large quantity of data, an art that IBM has mastered. IBM is also painting this as a sort of exploratory project; a scientist there tells PC World that “We’re in a process in which we will have milestones … [over] three years. At the end of three years we will know if it’s feasible or not.”

In three years’ time this sector’s scene will be totally different from now. It is hard to predict who will win the low-cost challenge: at the Personal Genomes meeting in Cold Spring Harbor last month, sequencing pioneer George Church listed 17 competitors in the “ultra low-cost sequencing space”.

Just when you thought the over 70,000 phone apps on the market covered every single entertainment, scientific or news-spreading purpose possible, the need for new applications grows.

Last week, the Massachusetts Institute of Technology hosted a scientific convention focused on a new field: the human-environment mobile-based interactions.

Cell phones, iPods and any other portable computing device are about to become the ultimate low-budget environmental monitoring tool for researchers worldwide.

Dale Joachim, a visiting scientist at MIT’s Media Lab, organized the event, with funding from the National Science Foundation. “How do we rethink human-environment interactions in light of these mobile devices?’’

For instance, Carlos Corrada-Bravo, director of the Computer Science Program at the University of Puerto Rico, programmed his iPod Touch to record birds and frogs in remote areas of Puerto Rico and Hawaii. He modified the consumer device by adding an extra battery and an off-the-shelf microphone. A less than $20 investment allows professor Corrada-Bravo to record the sounds of the forest and study the fauna.

Richard Fletcher, a Media Lab research scientist, envisions instead a cheap low-wattage system incorporating sensors in order to detect soil moisture or pH, wired to data-storage hubs with Bluetooth radios. Field assistants will be able to collect and forward scientific data using just a cell phone.

The era of scientific expeditions with porters carrying heavy machinery deep into the forest may soon come to an end.

As fascinating as the new technological frontiers may seem, the scientific community raised some concerns, such as a potential lack of bandwidth in remote areas, battery supplies, waste of electricity, etc.

Joachim, one of the strongest supporters of this direction, does not dismiss the challenges, but believes they can be overcome. In this new “digital ecology’’ approach, millions of cell phones can interact with powerful servers and provide a never-before-seen flow of data. “Now we have a different beast,’’ Joachim said. “We have a beast with a thousand eyes.’’

On September 11th, 1984 Alec Jeffreys, now Professor Sir Alec Jeffreys, discovered something called “genetic fingerprinting” in a laboratory in the Department of Genetics at the University of Leicester. His discovery was to become the turning point for forensic DNA analysis, paternity tests and DNA cloning.

Professor Jeffreys and his team were working on DNA patters, overwhelmed by the number of variables present even between mother and son or identical twins. “This is too complicated”, thought Jeffreys, but then came came what he calls his “eureka” moment and realized that every DNA strain contains not only the information the organism has inherited from parents, but also its unique “fingerprint” trace which repeats itself in its every single cell. What initially appeared to be a random and confusing bulk of unlinked information information, was actually the individual’s distinctive feature.

This accidental discovery opened up a new area for science, making DNA analysis crucial for criminal investigation, paternity tests and diversity analysis also among non-human species. The first real legal case involving DNA fingerprints analysis came in March 1985. A family of UK citizens originally from Ghana was accused of child swapping because the youngest one flew back to Great Britain after a trip to their hometown on a damaged passport. Blood typing analysis concluded that the boy was part of the family but couldn’t be determined if he was the son or a nephew with no residence rights. This is where Professor Alec Jeffreys got involved and scientifically proved he was a full member of the family.

Another headline-making investigation, successfully concluded thanks to Professor’s Jeffreys work, was the identification of the remains of the Nazi criminal Josef Mengele. After the Second World War he fled from the Allies and escaped to South America, where he lived for the rest of his life without ever being caught. In 1996 the German government, keen to close the case, asked professor Jeffreys together with professor Erika Hagelberg, an expert in extracting DNA from bones, to analyze the remains of Wolfgang Gerhard, a man of German origins buried in the cemetery of a small Brazilian town. The man, who drowned some years earlier in a swimming accident, was proven with a 99.94% certainty to be Mengele.

To celebrate the 25th anniversary of the discovery, the University of Leicester has organized various events and conferences to stretch once more the importance of Professor’s Jeffreys work. To read more about this, visit http://www2.le.ac.uk/departments/genetics/jeffreys/

Sixteen years after the discovery of  the APOE4 gene, who’s mutation is the focus of Alzheimer’s research and treatment, two more genes have been pinpointed as implicated in the disease’s development.

Alzheimer’s disease - a degenerative disease, which slowly and progressively destroys brain cells. It is named after Aloïs Alzheimer, a German neurologist, who in 1907 first described the symptoms as well as the neuropathological features of Alzheimer’s disease such as plaques and tangles in the brain .

A UK team discovered that mutations in the CLU and PICALM genes, both known to have protective roles in the brain, increase by 20% the chance of developing Alzheimer’s. They basically turn from protectors into enemies of the brain’s health, even though the studies are still at an initial stage and the links between the genes and the disease are not quite clear yet.

Philippe Amouyel, an epidemiologist at the University of Lille in France and an author of one of the studies, says “that they may be involved in the elimination of the major component of amyloid plaques.” Buildup of these plaques is a major cause of Alzheimer’s.

The results of the study have been associated with the research on another genetic marker of the brain, responsible for the clearance of amyloid plaques. According to Julie Williams, professor of neuropsychological genetics at Cardiff University in Wales, this combination of discoveries forms an important breakthrough in the current impetus to discover the causes of Alzheimer’s disease”.

Today Alzheimer’s figures are increasing world-wide. According to the American 2009 Alzheimer’s report, in the US alone 5.5 million people suffer from this disease, growing at the speed of one new diagnosis every 70 seconds. Alzheimer recently became the 6th cause of death, surpassing diabetes.

In Europe, the estimated number of affected people, according to the Alzheimer Europe web site, is 7.3 million. These figures sets important challenges for all European health care systems, since the oldest old is one of the fastest growing sectors of European societies.

As for any other disease, an early diagnosis is the best way to treat and learn how to live with Alzheimer’s.

Ten years from now every new-born will know wether he’ll suffer from diabetes in his teens or a heart condition in his fifties. Not from a pediatric psychic, that is not in sight yet, but from the analysis of the genetic code of the baby. The costs of DNA mapping have already sensibly diminished, but they will drop to less than $1000 in the near future, making this a standard after-birth procedure. The human Genome Project, the first human genome sequencing ever published was completed in 2001 at a cost of $4 billion. Two years ago scientists James Watson and Craig Venter had their genomes mapped with about $1m, and Dr. Stephen Quake, a Stanford engineer, recently decoded is own with less than $50,000 and just a three-member staff. Dr Jay Flately from Illumina, an American company specialized in personalized medicine development by applying innovative genetic technologies, stated in an interview with The Times that most kids will have this simple procedure done within 2019. It will be enough to collect a drop of blood with a heel-prick blood test, similar to the one that is already used to screen for inherited diseases such as cystic fibrosis. “The limitations are sociological; when and where people think it can be applied, the concerns people have about misinformation and the background ethics questions. I think those are actually going to be the limits that push it out to a ten-year timeframe” he said. This procedure will in fact raise eyebrows on privacy concerns: what if an insurance company manages to get its hands on your own sequenced genome and prices your health insurance accordingly? But, as Dr. Flatley added “people have to recognize that this horse is out of the barn, and that your genome probably can’t be protected, because everywhere you go you leave your genome behind.” A used coffee mug or a fallen out hair are enough to track a person’s DNA anyway. This is why it will be very important for proper legislation to be passed. The benefits will be so great that will most likely wipe out the initial concerns. Knowing which kind of cancer or cariovascular problems could affect us, is crucial to early prevention and drugs and dietary advice.

It took Christopher Columbus 36 days to reach America. Now you fly to New York in about 8 hours. The first commercial computer, the UNIVAC I costed about $1,550,000 and weighed 13 tons. How much did you spend for your laptop?

Tech devices have been getting smaller, faster and cheaper. We all noticed that. This development is becoming reality in the DNA research field as well, as Dr. Stephen Quake, a Stanford engineer, has recently proven the world.

He recently decoded is own genome sequence with less than $50,000 and just a three-member staff thanks to his Heliscope Single Molecule Sequencer. This innovative machine can sequence a human genome in four weeks with a small technical staff. Companies and labs who have been providing this service relied on hundreds of machines and large staff to get the job done. The most recently sequenced human genome before Dr. Quake’s costed about $250,000 to be decoded, and his machine brings the cost to less than a fifth of that. Not to mention that it is much faster. He said the much-discussed goal of the $1,000 genome could be attained in two or three years. That is the cost at which genome sequencing could start to become a standard part of medical practice. Once again, we are watching modern technology became obsolete live.

We are driving fast down the road of routine full genome sequencing. This will lead to a better understanding of our personal disease risk-factors and prevention.

“You have to have a strong stomach when you look at your own genome,” Dr. Quake said. Looking at his own, he discovered a variant associated with heard disease. Luckily he inherited only from one parent, which leaves him with another healthy gene copy.

The cost of the device is “about $1 million, depending on how hard you bargain,” Dr. Quake said. Funny enough it is about the same as the UNIVAC I. Will genome sequencing devices become part of household first-aid kits in a decade time?

The genome of the HIV virus, responsible for AIDS and AIDS-related infections, has been entirely decoded by a team of researchers at the University of North Carolina lead by professor Kevin Weeks. This is a huge step forward towards understanding how this deadly virus attacks the human body and, consequently, how it can be cured.

Prior to this scientific achievement retroviral drugs, the only known cure to HIV’s symptoms, not to the disease itself, where shaped to attack only few decoded parts of the virus’ genome. HIV, like many other viruses, is composed of a single stranded RNA, some sort of single-stranded DNA molecule. While DNA contains fixed and sequenced genetic information, the RNA is able to fold into complicated patterns. This makes the molecule much more difficult to analyze.

The next step in HIV RNA research will be to change its sequence in order to understand how this affects the virus and discover its weak sides.
“We are also beginning to understand tricks the genome uses to help the virus escape detection by the human host”, said Weeks.

This will help in starting antiretroviral treatment (ART) as early as possible in HIV positive people. A recent study conducted by professor Matthias Egger of the University of Berne in sub-Saharan Africa has shown that mortality rates of people starting HIV treatment are not much different than those of the general population if treatment is started before the immune system has been severely damaged.

According to the latest UNAIDS report on the global AIDS epidemic, released in July 2008, there have been significant gains in preventing new HIV infections worldwide, especially in heavily-plagued countries. But if HIV infections have globally dropped from 3 to 2.7 million, the rates of infections are rising in countries such as China, Indonesia, Kenya, Mozambique, Papua New Guinea, the Russian Federation, Ukraine, and Vietnam.
Some so-called first-world countries are experiencing a rise in infection as well, such as Germany, the United Kingdom and Australia.