Gene therapy for the unborn

Successful trials raise hopes for end to inherited human disorders

Scientists are on the verge of ridding inherited diseases from future generations with a new technique for swapping genes between unfertilised human eggs before the resulting IVF embryos are implanted into the womb.

The technique has been successfully tested on laboratory monkeys and researchers believe it is now safe enough to apply for clinical trials on the many thousands of women at risk of giving birth to babies with some of the most debilitating inherited disorders.

Such a procedure would break new ground and raise fresh ethical concerns over the direction of IVF research because it would lead to permanent changes to the genetic make-up of children that would be passed on to subsequent generations of the same families.

This form of gene therapy, known as germline gene therapy, alters the DNA of sperm or eggs and is banned in Britain because of fears over its safety as well as the prospect of it leading to the creation of "designer babies". However, a clause in the new Human Fertilisation and Embryology Act, which comes into force on 1 October, could permit a type of germline gene therapy involving mitochondrial DNA – which exists outside the chromosomes – without the need for changes to primary legislation and a parliamentary vote.

Mitochondria, the tiny "power houses" of cells and their DNA, which lies outside the nucleus, is inherited solely down the maternal line. It is estimated that 1 in every 200 babies are born with mitochondrial mutations, some of which can lead to serious, life-long illnesses, such as diseases of muscles and nerves, as well as diabetes and cancer. The study on monkeys involved "renewing" the mitochondria of their eggs by the wholesale transfer of the chromosomes of one of their eggs into the egg of a donor female that had its own chromosomes removed so that only her mitochondrial DNA was left.

The aim was to test the feasibility of taking eggs from women with one of the 150 known mitochondrial DNA disorders and using them to create healthy eggs by transferring their chromosomes into donor eggs with no chromosomes of their own. The resulting egg would have DNA from two females and, when fertilised with a sperm, would result in an embryo which has three genetic parents.

In the latest study, four healthy macaque monkeys have been born using the technique. The scientists involved said yesterday there is no evidence that the procedure is unsafe and that they were planning to apply for ethical approval to conduct clinical trials in humans within a few years.

"In theory, this research has demonstrated it is possible to use this therapy in mothers carrying mitochondrial DNA diseases so that we can prevent those diseases from being passed on to their offspring," said Shoukhrat Mitalipov, of Oregon Health and Science University in Beaverton, Oregon.

"We believe with proper governmental approvals, our work can rapidly be translated into clinical trials for humans, and approved therapies," said Dr Mitalipov, whose study with colleague Masahito Tachibana is published in the journal Nature.

Conventional gene therapy has been tried in humans for 20 years but changing the DNA of mitochrondria would raise new ethical concerns. "This is not a simple form of gene therapy. This type involves replacing genes in the germline which will of course transmit it to the next generation and there are concerns," Dr Mitalipov said.

"We are talking of gene defects that cause terrible diseases. So the only way to prevent these genetic defects is to replace these genes whether we like it or not. We realise it's gene therapy involving the germline."

Professor Peter Braude, a specialist in reproductive medicine at King's College London and director of the Centre for Preimplantation Genetic Diagnosis at Guy's Hospital, said that the study involved a series of technically difficult experiments that were meticulously executed. "For the first time, proof of principle has been demonstrated that transmission of mitochondrial disease might be avoided. It is a first step toward preimplantation correction of the serious medical disorders caused by defective DNA inherited maternally in the mitochondria," Professor Braude said.

"The transfer of the normal genetic material from a mother who has defective mitochondria, to a clean donated oocyte [egg] with normal mitochondria would allow it to be fertilised with her partner's sperm and for them to have a child free of the mitochondrial disease with the genetic material of the couple."

A spokesman for the Human Fertilisation and Embryology Authority said: "If, in the future, safe and effective treatments are then developed to prevent the transmission of mitochondrial disease, Parliament would have to pass secondary legislation to allow that treatment to take place under HFEA licence. Any specific proposals would be closely examined by a Licence Committee to ensure that appropriate safeguards were in place."

Jaycee Lee Dugard walks into police station 18 years after disappearance

A woman who was abducted in 1991 at the age of 11 was waiting to meet her mother on Thursday after walking into a California police station and identifying herself as Jaycee Lee Dugard.

Miss Dugard was abducted near her home in South Lake Tahoe on June 10, 1991 by two people in a gray sedan.

Her parents have spoken to the young woman over the phone and say they are convinced she is the daughter they believed they would never see again.

"I had personally given up hope," her stepfather Carl Probyn told ABC News. "I had just hoped for a recovery [of a body]... I've actually won the lotto."

He added: "She sounds like she's okay. She had a conversation with my wife and she remembers things. I hope she's been well treated this entire 18 years."

Her mother Terry Probyn and 19-year-old half-sister Shayna were flying from their home in southern California to be reunited with the woman who California authorities say is their long-lost relative.

Although the details of Miss Dugard's re-emergence are not yet clear, it is understood that Phillip Craig Garrido, 58, and Nancy Garrido, 55, are now in custody. Police were also said to be searching a home in Antioch, a suburb of San Francisco.

Mr Garrido, a registered sex offender with a prior conviction for rape, was being held on suspicion of kidnapping, rape, lewd and lascivious acts with a minor, sexual penetration and kidnapping, the San Francisco Chronicle reported.

Nancy Garrido was arrested on suspicion of conspiracy and kidnapping, the newspaper said.

Miss Dugard, who would now be 29, was seized by a man and a woman on the morning of June 10, 1991 as she walked to her school bus stop in her home town of South Lake Tahoe, California.

Mr Probyn heard his stepdaughter scream and saw her being forced into a grey car, but was unable to prevent the kidnapping, which became one of the most notious unsolved crimes in the US.

There were a number of reported sightings of the blonde-haired, blue-eyed girl in nearby towns in the years after her disappearance, but the trace ran cold and her family had resigned themselves to never seeing her again, although the case was never closed.

Rumours surfaced that she had been kidnapped by religious cult members or known child abusers, although police could find no firm leads.

Authorities were due disclose more information about Dugard's remarkable re-emergence – and how she has spent the last 18 years – in a news conference on Thursday afternoon.

But her case is already being compared to that of Natascha Kampusch, the Austrian girl held for more than eight years in a dungeon below the home of her abusive captor. Kampusch only secured her own freedom by escaping from her windowless cell in August 2006, after which her kidnapper Wolfgang Priklopil committed suicide.

Mr Probyn, who was initially a suspect in the case and was forced to take repeated lie detector tests, said that his wife, from whom he is estranged, initially believed the phone call she received from the FBI telling her the news was a hoax.

"To have this happen, where she walks into a police station, is really a miracle to get her back," Mr Probyn said. "And she sounds like she is doing okay. I don't know if she is married. I don't know if a cult took her, or if a couple who didn't have kids took her. I'll find out today all these answers."

Sorry, Brazil's Carnaval Is Not a Free for All, All Out Orgy

It's Carnaval in Rio and I am honestly not that excited about it. I did the whole Rio experience last year with a bunch of blocos, performing in the Children's Parade, and going to two nights at the Sambadrome (one night of the Special Groups, the other the Champion's Parade). My experience at the Sambadrome was amazing, an incredible opportunity, one I felt no need to repeat this year.

The blocos were an interesting cultural experience, but after I had a claustrophobia-induced panic attack at one of them, I wasn't so crazy about them. Though I love dancing, I hate being in the sun and heat in huge groups of people, especially drunk ones. Plus, though the music is great, it's the same short song played over and over and over again and I find it a little tedious after awhile.

I do regret not going to any samba school rehearsals this year though; they're held indoors and are a lot of fun, where people seem more interested in dancing than in getting wasted. Another factor this year has been Eli, who was very sick for most of the week and isn't quite better yet, so I've been taking care of him and helping him take it easy.

It's not that I don't like Carnaval; I'm completely fascinated by it, but this year I prefer to take a step back and watch it from the sidelines. (However, I did have a fantasy that by now I'd have become a blogging celebrity in Rio and a local celebrity would invite me to his/her box seats at the Sambadrome. I have a very vivid imagination.)

But I digress, because the real point of this post is aimed at my gringo readers who haven't yet experienced Rio's Carnaval, as well as the hordes of horny Googlers accessing my blogs in hopes of finding naked pictures of Carnaval queens and videos of sex in the streets of Rio. There's a great deal of mystique and a wealth of misinformation when it comes to Carnaval, so I'd like to clear up a few misconceptions.

I. Nudity & Sex

First of all, nudity is not omnipresent at Carnaval in Rio. Though a number of women in the parade at the Sambadrome wear very little clothing, the rest of the participants wear elaborate, heavy costumes, and those are the dancers and musicians that make up the bulk of the parade. At the street parties (blocos), which are the second great pride of Rio's Carnaval, revelers dress up in costumes or put on silly hats or accessories, but most certainly do not go half naked. You're more likely to find men in drag than women in thongs at the blocos.

Though nudity is not nearly as widespread at Rio's Carnaval than people think, it is unfortunately one of the most commonly projected images of Carnaval, Rio, and Brazil to the rest of the world. As a result, many foreigners incorrectly link nudity to promiscuity, assuming that Carnaval is some sort of sexual free-for-all, an all out orgy.

But I have bad news for you: it's not.

There is no sex in the Sambadrome parade, there is no sex on the streets during the blocos, and there is no sex in public in general (there are, however, copious amounts of men peeing in public). The only instance of semi-public promiscuity I've heard about is at the Scala club's tacky Carnaval parties, but I'm not sure how bad it really is.

Due to heavy drinking, some people certainly hook up and some make out in public, but it's not much different from meeting someone at a club or a party. The same rules apply - there is no special sex loophole for Carnaval.

Comfortable with Nudity

Many foreigners believe that Brazilian women are sluts and whores. Let's examine why. Juliana Paes, a beloved famous Brazilian novela and film actress, is going to help me demonstrate.

First, there's Rio Carnaval, where women in the Sambadrome parade wear very little clothing and dance sensually down the avenue, sometimes practically naked.

Since Rio's Carnaval celebration is the best known of all Brazilian celebrations in Gringolândia (and probably Latin American ones, at that), this is the image that is projected of Brazilian women to the world.

Many men, as a result, falsely assume that all Brazilian women are scantily-clad, sex-crazed, and provocative beings, incorrectly connecting costumes and dance with sexual habits. Carnaval is a celebration and in the case of Rio's Carnaval, a performance. Dancing in a bikini does not translate to nymphomania.

Next, there's the Brazilian bikini. Though the G-string bikini is no longer in fashion, the teeny weeny bikini bottom is, and when gringos get to the beach in Brazil, their jaws sometimes drop. (Keep in mind, however, that unlike in Europe, going topless in Brazil is NOT acceptable).

Also, there's nudity. Brazilians are more comfortable with nudity than Americans, and you'll see more skin in the media, on TV, and in public more than you would in North America. However, showing skin does not mean a person is necessarily more sexually inclined than others; being more comfortable with it is a cultural trait.

The moral of the story? There are sluts and hos in every country, and you are no more likely to find them in Brazil than you would in England or the US. You may find more prostitutes, since prostitution is legal, but that certainly doesn't mean that all women act like whores. In fact, Brazilian women are generally more reserved about sex that North Americans.

Though Brazilians are comfortable making out with strangers (perhaps another factor gringos assume is part of the nymphomania stereotype), I believe Brazilian women to be less promiscuous than Americans. You'd be hard-pressed to find a typical Brazilian woman primping with her friends before going out saying, "Man, I really have to get laid tonight!"

In the end, that girl in the teeny weeny bikini may actually be a total goody-two shoes.

II. Lifestyle

Some gringos believe that Rio is like Carnaval all year long. Though you can find a few blocos and plenty of samba school rehearsals during the year, Rio is definitely not a perpetual Carnaval. Though the work culture isn't like São Paulo, people work long hours and go about their daily lives without partying daily.

I've noticed a certain something in the air during Carnaval, a skip in people's steps, a definite weight lifted and a feeling of relaxation. Carnaval is different from the rest of the year, a time when people let go and transform into something different. Carnaval is, after all, a social pressure valve, especially in Rio.

Since people assume that Rio is a party city, it attracts some gringos to visit or move here. It didn't for me. I think the nightlife is far better in Buenos Aires and New York, but aside from that, Rio is an incredibly cosmopolitan city with museums, galleries, cafés, restaurants, movie theaters, shows, outdoor activities, and cultural centers. There's a lot more to Rio than its nightlife.

III. Authentic Experience

Some tourists come to see Carnaval in Rio because they think it's the "authentic" Brazilian cultural experience. Though it's internationally one of the most famous manifestations of Brazilian culture, there are so many other celebrations and representations of Brazilian culture. There are Carnaval celebrations in hundreds of other Brazilian cities and a huge wealth of holidays and traditions you can experience year-round.

Also, Rio life during Carnaval is different from Rio life during the rest of the year. Few people work (with the exception of restaurants, hotels, malls, etc), the city slows down, and many Cariocas leave the city, while the tourists pour in. Seeing Rio outside of the Carnaval season is just as authentic, if not more so.

This article was written earlier this year during Carnaval. Rachel Glickhouse, born in 1984, spent two years living in Rio de Janeiro, Brazil after graduating from college in 2007. She now lives in New York with her Brazilian husband. She has also lived in Spain, the Dominican Republic, and Argentina and has traveled through Latin America. You can find more about her in her blog: http://riogringa.typepad.com.

Teen's ignorance was fatal

A YOUNG P-plater drove his car with the engine turned off and keys out of the ignition because he thought it would save petrol.
It instead resulted in his death and one of his passengers losing half her face, a coroner has found.

The bizarre act caused the steering wheel to lock and resulted in the vehicle ploughing into a garbage truck, killing the 18-year-old instantly and severely injuring his three passengers.

The driver, whose name has been suppressed by the Coroners Court, had had his licence for only one month before his death.

Coroner Rod Chandler released his findings yesterday into the crash which occurred last December on the Channel Highway at Margate.

Mr Chandler has described the act as "ignorant" and urged lawmakers to ensure young drivers not only gained the skills they needed to drive on the road but also general vehicle knowledge.

"In my opinion the removal of the key from the Nissan's ignition was the principal factor causative of this crash because it disengaged the engine thereby effectively disabling the vehicle and preventing the driver from steering it on a safe course," Mr Chandler said in his findings.

"Quite clearly it is an extremely dangerous act to remove a key from a vehicle's ignition whilst it is still in motion.

"I am satisfied that it occurred in this instance not because the deceased was being foolhardy or irresponsible but rather because of his ignorance of its effect upon his capacity to manage the vehicle.

"His tragic death should serve as a reminder to all parents, driving instructors and others involved in driver training of the need to incorporate in learner driver education advice upon fundamental motor vehicle mechanics including direction upon the danger of driving when a vehicle's engine has been disengaged."

Mr Chandler said one of the passengers stated the driver had previously turned off the engine and removed the key -- causing the vehicle to roll, also known as "coasting".

"The deceased's mother also comments that her son was frequently `worried about petrol', and that it would be unsurprising to her if he had removed the key from the ignition in an effort to conserve fuel," he said.

Mr Chandler said speed and the fact the male driver of the Volvo truck had some minor traces of marijuana in his blood had nothing to do with the accident.

"I find that this crash occurred as a consequence of the deceased deliberately removing the key from the ignition while his car was still in motion," he said.

"As a consequence, the engine disengaged and the steering wheel locked as soon as an attempt was made to steer the vehicle.

"In the result it was unable to be diverted from its set course so that it moved from its northbound lane into the opposite lane and into the direct path of the Volvo truck."

The crash happened last December when the teen was driving towards Hobart on the Channel Highway with a group planning to travel to Launceston.

As the Nissan was approaching a left-hand curve it suddenly crossed to the opposite side of the roadway and into the path of the truck travelling towards Margate.

The driver of the truck braked heavily and tried to swerve but was unable to avoid a collision with the Nissan.

Would you remarry?

HONEY BACON, Kim Geale and Wendy Kennedy talk about how they feel about remarrying.

Honey Bacon, widow of former Premier Jim Bacon, says she has not ruled out re-marrying but thinks it's unlikely she would ever meet the perfect man again.

"I never thought I'd get married the first time," the 56-year-old says.

"I never thought that I wanted to -- or needed to -- get married.

"It wasn't until I met Jim that I realised I wanted to do it because I wanted to shout it from the rooftops."

Honey, who was married to Jim for 10 years before he succumbed to lung cancer, says she still loves her husband and can't imagine marrying someone else.

"I don't know whether I would ever feel that need again, but I'm sure it does happen to people," she says of re-marrying.

"It's about meeting the right person that you absolutely trust 100 per cent and want to share your life with.

"The chance of me meeting somebody is fairly remote... I wouldn't expect it. I am still in love with my husband."

Heart FM breakfast radio host Kim Geale is about to remarry fiance Andrew Napier after her 20-year-marriage to her first husband ended 12 months ago.

"My theory is just go for it," says Geale, who plans to wed in Hobart next January.

"Whether you get married or not the commitment is still there -- but if you get married you get the party to celebrate the attraction."

Geale, 42, says when her first relationship broke down she never imagined she would remarry, especially not so soon.

"I wondered how I'd ever meet anyone," says Geale, who has a 15-year-old son.

"I'm too old to go clubbing; I'm too young to hang out at parents without partners meetings and I didn't want to be the token single woman who got invited to barbecues because there was a guy there who was also single."

Her fiance, a school teacher, has been married before and has a 10-year-old daughter.

Hobart personality Wendy Kennedy says she would re-marry if she met the right man.

"If you'd asked me a few years ago I would have said that I didn't want to get married again," says the 48-year-old singleton who has a 19-year-old son.

"But now, because I've been single for quite a while, I actually quite like the concept of getting married again.

"I don't like the chances of it happening because I'm such a homebody and don't go out much.

"But I think as you get to middle age and mellow out you realise that it would be quite nice to have someone around."