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The new frontier for disease cure and prevention is somewhere in our gene, that we have all known for a while. Until not so long ago, high costs and long timings have prevented to exploit the incredible possibilities of genome sequencing.

Now that the wall of costs has been broken, the first mass DNA sequencing workshop could finally begin. This month, researchers at Kaiser Permanente, a volunteer based DNA bank, together with the University of California, began the highly automated, large-scale process of analyzing that DNA, which is being extracted from tens of thousands of saliva samples donated since 2008.

The main goal is to computer cross-analyze the genes of people with diseases like cancer and multiple sclerosis, which will possible lead to pinpoint the genes responsible for the illnesses.

The process will be completed in less than 18 months, a speed that would have seemed preposterous to contemplate a decade ago.

What makes the Kaiser study unique is that members of a single, colossal cohort will have their genomes scanned uniformly, then paired with their medical histories. “It is absolutely the largest study of its kind, and it has enormous statistical power”, said Winifred K. Ross, project manager for the National Institute of Aging.

Experiments like this one underscore how quickly gene-scanning technology is moving from the lab to the home. Last week, officials of the University of California, Berkeley, disclosed that 6,000 incoming freshman and transfer students will be asked to swab their cheeks at home for DNA, to participate in a collective lesson in genetics and a preview of the predicted era when medicine will be tailored to each person’s genetic makeup. Each student who agrees to participate will be able to tap in a security code on a laptop and check whether they carry gene variants that might affect their ability to process lactose, alcohol or folate, a vitamin found in leafy greens.

Brooke Greenberg looks like a toddler, but is actually 17 years old. Born healthy, her parents noticed that something was wrong sometime between her first and second birthday, as she she was not developing and growing like other children.
Seventeen years later, Brook still holds the cognitive level of a baby, is 30 cm high, has all her baby teeth and enjoys been pushed around in her stroller. She hasn’t aged.
Despite the tragedy of a family confronted with a daughter that will never have the chance to become a healthy adult, Brook’s case fascinates  doctors and scientists who where not able to identify her problem until recent studies of her DNA. No answer was found yet, but apparently it has something to do with a defect in the genes that are in charge of the aging process.
Studies of Brooke’s DNA could eventually reveal how to slow the aging process and show the way towards treatments of diseases linked with old age. Or perhaps help us all to live longer.

The first monetary settlement for misuse of DNA sample has been payed after  four years court battle by the Arizona State University.
The beneficiaries of the $700,000 fine are 41 members of the ancient Indian Tribe Havasupai, who have been living in almost complete isolation for centuries in an enchanted corner deep in the Grand Canyon. What brought the two counterparts together was a cry for help from the Havasupai people: the tribe had been struck by an devastating rate of diabetes for years and asked the University to run DNA tests to spot the causes of the epidemic.

It is only years later that one of the few members of the tribe to have attended College, Carletta Tilousi, 39, a member of the tribal council, learned that heir blood samples had been used to study many other things, including mental illness and theories of the tribe’s geographical origins that contradict their traditional stories.

The case raised the question of whether scientists had taken advantage of a vulnerable population, and genetics experts and civil rights advocates say it may also fuel a growing debate over researchers’ responsibility to communicate the range of personal information that can be gleaned from DNA at a time when it is being collected on an ever-greater scale for research and routine medical care.
“I’m not against scientific research,” said Mrs. Tilousi. “I just want it to be done right. They used our blood for all these studies, people got degrees and grants, and they never asked our permission.”

Researchers and institutions that receive federal funds are required to receive “informed consent” from subjects, ensuring that they understand the risks and benefits before they participate. But such protections were designed primarily for research that carried physical risks, like experimental drug trials or surgery. When it comes to mining DNA, the rules — and the risks — are murkier.

Is it necessary, for instance, to ask someone who has donated DNA for research on heart disease if that DNA can be used for Alzheimer’s or addiction research?

Many scientists say no, arguing that the potential benefit from unencumbered biomedical research trumps the value of individual control.

As for any new discipline, the legal system is showing its flaws in terms of proper DNA use regulation.

Professor Sir Alec Jeffreys has become the 22nd person, three of whom have gone on to become Nobel Peace Prize winners, to receive the award.
He will receive the accolade on 14 April during the Edinburgh International Science Festival.
DNA profiling is now a major tool in solving crime, and the standard method of resolving paternity disputes.
The professor’s “eureka” moment came on the morning of 10 September 1984, when he went into his darkroom to develop an X-ray film from an experiment looking at highly variable bits of DNA.

The film threw up an unexpected result - every individual in the sample had a different bar code and could be identified with precision.
More than 30 million people worldwide have had a DNA profile.
Sir Alec, however, has said in the past that the practice of retaining DNA taken from innocent people in the UK raises serious issues.
While having no regrets over the development of the DNA profiling, Sir Alec does have strong reservations as to how authorities are using the information, particularly the long term storage of information on the English National DNA Database.
Speaking at a House of Commons home affairs select committee meeting earlier this year, Sir Alec said England and Wales should follow Scotland’s lead, where police only retain the DNA profiles of innocent people under specific circumstances, with those accused of sexual assaults having their profiles held for a maximum of five years.

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

Today’s big news in the DNA research field is the result of professor Renee Reijo Pera’s team at Stanford University: primitive human sperm and eggs and the germ cells that make them have been created from embryonic stem cells.

Media has gone wild over the news, rating it anything in between the ultimate infertility treatment to artificial parent-less child manufacturing.

Most scientists claim that this work is a way of getting closer to understanding what hides behind the miracle of a new human life being created and how genetic mutation and diseases form at their earlier stage.

The research of course aims at creating synthetic sperm and eggs in the laboratory as well, in order to allow men and women who make none to have their own genetic children. But this dream remains at least five years away.

“Our goal is to understand how you make eggs and sperm,” said professor Pera. “We know almost nothing about human reproductive development, and this gives us a new way to investigate it. The hope is some day to help those who are infertile.”

The big question is of course ethical.

Is the offspring of a synthetic cell actually someone’s child? Is it right to invest in these kind of studies in an over-populated world struck by disease and famine? Isn’t infertility Mother nature’s response to a non-suitable genetic layout?

Here at Swiss DNA Bank we believe that such delicate matters are very difficult to judge.

Personally I feel that if the synthetic egg or sperm derives from someone’s tissue, the bond between parent and child will be as legitimate and strong as the one that derives from natural conception. Couples who have no children should have the chance of fulfilling this core human need.

At the same time I understand those who are concerned with how scientific funding is invested. These studies are expensive in terms of money, time and number of experts working on the project.

But I guess that if we dig down to the bottom of the matter, we will eventually stumble into man’s freedom of choice. Choice of being a mother or a father, choice of dedicating one’s life to such studies, choice of seeking a better understanding of genetics and the functioning life itself.

Our DNA storage service has definitely nothing to do with how one ultimately decides to use his own cells. We just provide the freedom to store yourself as a whole.

Luca Boschin

COO Swiss DNA Bank

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”.

After the beloved family dog passes away, after the crying and the pet cemetery in the garden, after looking and sobbing at playtimes pictures hanging on the fridge, new puppy or kitten sooner or later follows its predecessor.

New pet, new smiles, new experiences.

But some people really cant cope with the loss. And here is where technology comes in: dog cloning. Yup: if you believe that Spot, Fifi or Runner were so special no other pet will ever be able to top them, you can actually take a sample of their DNA to a specialized clinic and take them back from dog heaven. Well, not really back, but a animal with the exact same DNA coding will be the exact copy of the mourned one. Also personality-wise? Apparently, but that’s still all to be figured out.

The story of Laneclot Encore is one good example of how far you can go for love.

Edgar and Nina Otto, a Florida couple, had their yellow Labrador retriever, Lancelot, cloned after he died of cancer.

The procedure costed the Otto family US$155,000 and raised lots of eyebrows among not only the general public but also the pet-caring community. “We have gotten some negative feedback from people on the price.” Yet, as Lancelot Encore squirmed in his arms, he added, “But we feel it is worth it.” Said Mr. Otto. Most of the negative comments regard the county’s critical economical situation opposed to getting a new pet for such an amount of money.

Dr. Sara Pizano’s opinion, of Miami-Dade County’s animal services department, focused also on the financial aspect but from another point of view. She said that for the price the Ottos paid for having Lancelot cloned, “we could do spays and neuters for six months.”

The company in charge of the procedure was the Northern California biotech firm BioArts International. BioArts partnered with Dr. Hwang S Woo-Suk, of the South Korea biotech research firm Sooam. An egg containing the late Lancelot’s DNA was placed in a Korean dog to create Lancelot Encore. Once the pup was able to leave his birth mother and go out on his own, he was flown from South Korea to San Francisco before finally making his way to Miami.

South Korea appears to be one of the world’s cloning center. Last August a Seoul-based biotechnology firm said it will open a dog cloning centre capable of cloning eventually up to 1,000 dogs annually early next year.

“We need this new facility to turn dog cloning services into a full-fledged business,” Cho Seong-Ryul, director of RNL Bio, told AFP.

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.