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Male transsexual gene link found

Australian researchers have identified a significant link between a gene involved in testosterone action and male transsexualism. DNA analysis from 112 male-to-female transsexual volunteers showed they were more likely to have a longer version of the androgen receptor gene. The genetic difference may cause weaker testosterone signals, the team reported in Biological Psychiatry.

However, other genes are also likely to play a part, they stressed.

Increasingly, biological factors are being implicated in gender identity.

There is a social stigma that transsexualism is simply a lifestyle choice, however our findings support a biological basis of how gender identity develops. (Professor Vincent Harley, researcher)

One study has shown that certain brain structures in male-to-female transsexual people are more “female like”.

In the latest study, researchers looked for potential differences in three genes known to be involved in sex development - coding for the androgen receptor, the oestrogen receptor and an enzyme which converts testosterone to oestrogen.

Comparison of the DNA from the male to female transsexual participants with 258 controls showed a significant link with a long version of the androgen receptor gene and transsexualism.

Testosterone

It is known that longer versions of the androgen receptor gene are associated with less efficient testosterone signalling.

This reduced action of the male sex hormone may have an effect on gender development in the womb, the researchers speculated.

“We think that these genetic differences might reduce testosterone action and under masculinise the brain during foetal development,” said researcher Lauren Hare from Prince Henry’s Institute of Medical Research.

Co-author Professor Vincent Harley added: “There is a social stigma that transsexualism is simply a lifestyle choice, however our findings support a biological basis of how gender identity develops.”

Although this is the largest genetic study of transsexualism to date, the researchers now plan to see if the results can be replicated in a larger population.

Terry Reed from the Gender Identity Research and Education Society said she was convinced of a biological basis to transsexualism.

“This study appears to reinforce earlier studies which have indicated that, in some trans people, there may be a genetic trigger to the development of an atypical gender identity.

“However, it may be just one of several routes and, although it seems extremely likely that a biological element will always be present in the aetiology of transsexualism, it’s unlikely that developmental pathways will be the same in all individuals.”

Story from BBC NEWS:http://news.bbc.co.uk/go/pr/fr/-/1/hi/health/7689007.stm

Published: 2008/10/26 13:01:09 GMT

October 26th 2008 Posted to News, Biomedical Ethics, Fall 2008

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Can DNA test ‘discover’ your child’s talents?

Thu, Oct 23, 2008 by Rachel Chan (asiaone)

NEW service touted as Singapore’s first DNA test to predict kids’ talents is barely three months old, but it has already raised some eyebrows. Called Kids Innate Talent Genetic Discovery, it was brought in by local health-marketing services firm DNA Dynasty, whose contracted laboratory is Shanghai Biochip in Pudong, China. It also offers the DNA Diseases Susceptibility Test, which it claims can identify up to 100 diseases that one could potentially inherit genetically. The firm will be officially launched only on Nov 15, but 90 people have already been tested, among whom 20 took the Genetic Discovery Test, said chief executive officer Johnner Tan.

Located at New Bridge Road, DNA Dynasty joins firms in countries such as Iceland, Britain and the United States in offering genetic testing. Dr Y.M Wong, who runs an anti-ageing management practice at Paragon Medical Centre, is a doctor who recommends his patients to DNA Dynasty to complement his treatment. “My patients are put on a stricter programme for disease-prevention if they are discovered to be susceptible to a certain gene,” he said. According to the firm’s flyer, the Genetic Discovery Test can identify up to 33 genetic traits, such as intelligence, emotional quotient (EQ) and entrepreneurship. Some, like businessman Lau, 44, have sent his kids for the Genetic Discovery test to “save money”. He said: “Now I know my one-year-old will be good at business. He has high EQ and leadership skills. “My older child, who’s three, will be good in science and can perform well as an engineer. With this knowledge, I know how to develop their talents without wasting time sending them for different enrichment programmes.” However, Professor Peter Scambler, a human geneticist at the University College of London’s Institute of Child Health, said he was “immediately sceptical” about the test when contacted by my paper yesterday.

“On an individual basis, it is not possible to identify whether a child would be predisposed to possess certain talents. One must also keep in mind that a gene accounts for only 2 to 3 per cent of the variation in, say, athletic performance,” he said over the phone.

Already in 2004, controversy erupted when an Australian- based biotechnology company developed a DNA test which, it claimed, could identify a child’s sporting potential. Dr Andy Miah, a bioethics lecturer at the University of Paisley in Scotland and the author of Genetically Modified Athletes, told The Times: “By using gene tests for sporting aptitude, children might be dissuaded from sports they enjoy, simply because somebody has decided that they will never be a great performer.” Yet Ms Sally Soo, managing director of DNA Dynasty, remains unfazed. She said: “It’s been proven that Jamaican runners are faster than their counterparts of different nationalities because of their genes.

October 24th 2008 Posted to News, Fall 2008

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Taking a Peek at the Experts’ Genetic Secrets

The DNA Age - October 20, 2008 NYT.com

By AMY HARMON

BOSTON — Is Esther Dyson, the technology venture capitalist who is training to be an astronaut, genetically predisposed to a major heart attack?

Does Steven Pinker, the prominent psychologist and author, have a gene variant that raises his risk of Alzheimer’s, which his grandmother suffered from, to greater than 50 percent?

Did Misha Angrist, an assistant professor at Duke University, inherit a high risk of breast cancer, which he may have passed on to his young daughters?

On Monday, they may learn the answers to these and other questions — and, if all goes according to plan, so will everyone else who cares to visit a public Web site, www.personalgenomes.org. The three are among the first 10 volunteers in the Personal Genome Project, a study at Harvard University Medical School aimed at challenging the conventional wisdom that the secrets of our genes are best kept to ourselves.

The goal of the project, which hopes to expand to 100,000 participants, is to speed medical research by dispensing with the elaborate precautions traditionally taken to protect the privacy of human subjects. The more genetic information can be made open and publicly available, nearly everyone agrees, the faster research will progress.

In exchange for the decoding of their DNA, participants agree to make it available to all — along with photographs, their disease histories, allergies, medications, ethnic backgrounds and a trove of other traits, called phenotypes, from food preferences to television viewing habits.

Including phenotypes, which most other public genetic databases have avoided in deference to privacy concerns, should allow researchers to more easily discover how genes and traits are linked. Because the “PGP 10,” as they call themselves, agreed to forfeit their privacy, any researcher will have a chance to mine the data, rather than just a small group with clearance.

The project is as much a social experiment as a scientific one. “We don’t yet know the consequences of having one’s genome out in the open,” said George M. Church, a human geneticist at Harvard who is the project’s leader and one of its subjects. “But it’s worth exploring.”

A new federal law prohibits health insurers and employers from discriminating against individuals on the basis of their genetic profile. But any one of the PGP 10 could be denied life insurance, long-term care insurance or disability insurance, with no legal penalty. And no law can bar colleagues from raising an annoyed eyebrow at a PGP participant who, say, indulges in a brownie after disclosing on the Internet that she is genetically predisposed to diabetes.

Then there is the matter of potential recrimination — from siblings, parents and children who share half of the participants’ genes and did not necessarily agree to display them in public. Prospective participants are advised to consult with first-degree relatives, but except for identical twins, their consent is not required. Some volunteers are worried about their hurting their teenagers’ dating prospects.

“A potential boyfriend could look at my genome and say, ‘I don’t know if this relationship is meant to be,’ ” said John Halamka, a participant and the chief information officer of Harvard Medical School, who has a 15-year-old daughter. (His daughter, he said, told him that if a suitor did that, “I wouldn’t want them as a boyfriend anyway.”)

Because of the known and unknown risks, Dr. Church required the first 10 participants to demonstrate the equivalent of a master’s degree in genetics. Most are either investors or executives in the biomedical industry, or else teach or write about it, so they may have a financial interest in encouraging people to part with their genetic privacy.

The project has drawn criticism from scientists and bioethicists who caution that even its highly educated volunteers cannot understand the practical and psychological risks of disclosing information long regarded as quintessentially private.

“I’m concerned that this could make it seem easy and cool to put your information out there when there is still a lot of stigma associated with certain genetic traits,” said Kathy Hudson, director of the Genetics and Public Policy Center at Johns Hopkins University. “There will be new uses of this data that people can’t anticipate — and they can’t do anything to get it back.”

For now, the PGP, which is privately funded, is sequencing only the fraction of participants’ genomes thought to have the most influence over disease, behavior and physical traits. But the question of how much value to place on genetic privacy has taken on more urgency as the technology for sequencing an entire human genome accelerated and the price has plummeted to as low as $5,000, so that it may soon be possible for everyone to possess their own genetic readout.

Sequencing a human genome — the six billion letters of genetic code containing the complete inventory of the traits we inherited from our parents — cost over $1 million just two years ago.

The two scientists whose full genomes were sequenced in the name of research both made them public. But they differ on whether the practice should be widely recommended.

“I put mine out there, but I’m 80,” said James D. Watson, the chancellor emeritus of Cold Spring Harbor Laboratory and co-discoverer of the structure of DNA. “Randomly putting up young people’s genomes could cause individual harm, simply because there will be so many mistakes. We don’t know enough yet to interpret them.”

J. Craig Venter, a pioneer in human genome sequencing, said his nonprofit institute planned to sequence several dozen human genomes by the end of next year and to deposit the information in the public domain along with phenotype information in a model similar to that of the PGP. He said he had already heard from thousands of volunteers.

“If they want privacy we tell them to go somewhere else,” Dr. Venter said. “To truly understand humans we need a huge data set of 10,000 complete genomes, and the data needs to be open to everyone for interpretation.”

Besides, promises of privacy may be impossible to keep, given the extraordinary identifying properties of DNA. Over the last three years, more than a half-million people who participated in over 100 publicly financed genetic studies on traits like schizophrenia and drug addiction were promised that their anonymity would be protected. But last month, after a paper in a scientific journal described how an individual’s profile could be identified even when it was aggregated with hundreds of others, the National Institutes of Health abruptly restricted access to the data.

There are some signs that the reflex to protect genetic privacy may be shifting. On the Web site of 23 and Me, a company that markets a $400 minisnapshot of traits from risk of heart disease to ear wax type, some customers use pseudonyms to discuss their results, while others include links with their contact information.

And Sergey Brin, the co-founder of Google, recently revealed on his blog that he learned he has a considerably higher than average risk of developing Parkinson’s disease, which was diagnosed in his mother several years ago. (Mr. Brin is the husband of Anne Wojcicki, a co-founder of 23 and Me.)

“There are costs to keeping things secret,” Mr. Brin said in an interview. “There’s a much better chance that you will learn something useful if you are not trying to hide it.”

Still, it may depend on what “it” is.

As the PGP 10 gathered Sunday at Harvard Medical School in Boston to receive the first batch of their genetic data, many said they were motivated by a desire to demystify genetics, which is often wrongly viewed as determining a person’s fate.

As the hour approached when they would be asked to reveal their data to the world, Dr. Pinker said he was still considering whether he wanted to learn of his Alzheimer’s risk, or if he would ask the researchers to withhold the data from himself and the public. Everyone, Dr. Church said, is given a chance to change their mind about going public up until the last minute, “but we try very hard in our screening process to choose the people who understand that it is better to have it all out there.”

Only about 1,300 of the 20,000 human genes have been so far linked to a particular trait, PGP researchers said. Thus, even if Dr. Pinker chooses to remove from public view the chunk of DNA currently associated with Alzheimer’s risk, he is not necessarily protecting himself from future associations scientists may make about genetic data that may now seem innocuous enough to put on the Web. Dr. Halamka, a PGP volunteer who found out Sunday afternoon that he has a gene variant that has been associated with childhood blindness, said he had no qualms about putting that, and all of his other information, online. Since he is not blind, and neither is his 15-year-old daughter, the project’s researchers told him it seemed likely that something in his genetic makeup was compensating for the defect.

Still, he asked whether it was associated with multiple sclerosis, which his father has. “My daughter,” Dr. Halamka said, “will be asking questions.”

What happens to the PGP, Dr. Church said, may serve as a litmus test for the fears of sharing genetic data, in an era when everyone’s inborn imperfections are becoming more identifiable. If this group is tracked “like major league baseball players, everyone will want to be like them,” he said. “If it runs into social hassles and financial hassles, then no one will.”

The volunteers will be given more information as the data is analyzed, and they may be asked to answer questions that might help researchers. But the only requirement is that they notify the project if they suffer any adverse effects from their participation.

Dr. Church said that information, too, will be made public.

October 20th 2008 Posted to DNA Test & Personalized Medicine, US, Health & Insurance & Privacy, Fall 2008

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Intelligence Squared US - debate on Universal Healthcare

Universal Healthcare Debate (12 Videos)

The motion: “Universal health coverage should be the federal government’s responsibility”

Moderator: John Donvan

Speaking for the motion: Art Kellermann, Paul Krugman and Michael Rachlis

Speaking against the motion: Michael F. Cannon, Sally C. Pipes and John Stossel

Mission Statement:

The goal of IQ2 US is to raise the level of public discourse on our most challenging issues. To provide a new forum for intelligent discussion, grounded in facts and informed by reasoned analysis. To transcend the toxically emotional and the reflexively ideological. To encourage recognition that the opposing side has intellectually respectable views. To engage the live audience as active participants who will ask questions and decide which speakers have carried the day by voting on the motions both before and after the debate.

http://www.youtube.com/view_play_list?p=E427240F927D6696

October 18th 2008 Posted to US, Biomedical Ethics, Health & Insurance & Privacy, Fall 2008

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Election 2008 Health Care in the Next Administration

The future of health care in the United States — access, cost, and quality — is a critical issue in the 2008 presidential election. On September 12, senior health policy advisors — David Cutler of Harvard University for Democrat Barack Obama and Gail Wilensky of Project HOPE for Republican John McCain — discussed their candidates’ positions on health care reform in a symposium cosponsored by the Journal and the Harvard School of Public Health. The debate was moderated by Arnold Epstein, of the Journal and the Department of Health Policy and Management at HSPH, and featured questions from a distinguished panel of experts: Karen Davis of the Commonwealth Fund, Jon Kingsdale of the Commonwealth Health Insurance Connector Authority, and Thomas Lee of Partners HealthCare and the Journal.

From: http://www.nejm.org/perspective/health-care-reform-video/

October 06th 2008 Posted to News, US, Health & Insurance & Privacy, Fall 2008

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Nobel de médecine : deux Français récompensés pour leurs travaux sur le sida

LEMONDE.FR avec AFP | 06.10.08

Le prix Nobel de médecine 2008 a récompensé les travaux des chercheurs français Françoise Barré-Sinoussi et Luc Montagnier sur le sida et ceux de l’Allemand Harald zur Hausen sur le cancer de l’utérus, a annoncé, lundi 6 octobre, à Stockholm, le comité Nobel. Les deux chercheurs français ont découvert le virus immunodéficitaire VIH et cette “découverte a été essentielle à la compréhension actuelle de la biologie de cette maladie et à son traitement antirétroviral”, selon les attendus du comité. M^me Barré-Sinoussi, née en 1947, professeur en virologie à l’Institut Pasteur, et M. Montagnier, né en 1932, professeur de virologie à l’Université de Paris, ont réussi dès 1984 à isoler le nouveau rétrovirus humain, aujourd’hui connu sous le nom de VIH, responsable du sida. “L’importance de leurs travaux doit être considérée dans le contexte de l’épidémie omniprésente dans le monde et qui affecte près de 1 % de la population”, note encore le comité Nobel. “Le succès de la thérapie rétrovirale a permis d’augmenter l’espérance de vie des personnes affectées par le VIH, espérance aujourd’hui semblable à celle des personnes saines.”

Le 20 mai 1983, dans un article publié dans la revue américaine Science, une équipe de médecins et de chercheurs de l’Institut Pasteur de Paris, dirigée par le professeur Luc Montagnier, avait décrit un nouveau virus, différent des virus connus jusque là et suspecté d’être responsable du syndrome d’immunodéficience acquise (sida). Isolé à partir d’un patient séropositif, ce virus a été baptisé LAV pour virus associé à la lymphadénopathie, par allusion au gonflement des ganglions (adénopathie), signe avant-coureur de la maladie. Il a ensuite été rebaptisé VIH. M. zur Hausen, 72 ans, qui travaille à l’Université de Düsseldorf en Allemagne, a quant à lui trouvé la cause du cancer de l’utérus, le “virus du papillome humain” ou papilloma virus (VPH), deuxième type de cancer le plus répandu chez les femmes. “Contrairement aux idées qui prévalaient dans les années 1970, Harald zur Hausen a posé comme postulat le rôle du virus du papillome humain dans le cancer de l’utérus”, a indiqué le communiqué.

Harald zur Hausen recevra la moitié du prix de 10 millions de couronnes suédoises (1,02 million d’euros) et les deux autres lauréats français se partageront la seconde moitié. L’année dernière, les Américains Mario Capecchi et Oliver Smithies et le Britannique Martin Evans avaient été récompensés pour leurs découvertes sur le ciblage de gène, base de la biomédecine du XXI^e siècle qui a permis des applications multiples dans le domaine thérapeutique telles que les cancers, Alzheimer ou Parkinson. Le prix Nobel de physique sera décerné mardi et celui de chimie mercredi. Suivront le Nobel de littérature jeudi, celui de la paix vendredi. Lundi prochain, celui de l’économie clôturera la saison des Nobel. Les lauréats du Nobel de médecine recevront leur prix le 10 décembre des mains du roi de Suède.

Polémique sur l’attribution du Nobel de médecine Willy Rozenbaum, président du Conseil national du sida, a jugé, lundi 6 octobre, “un peu dommage” que le Nobel de médecine, attribué à Françoise Barré-Sinoussi et Luc Montagnier pour leurs travaux sur le sida, n’associe pas les autres équipes “qui ont largement participé à cette découverte”.

“On retire une pièce du puzzle et il ne se passe rien”, a souligné le Pr Rozenbaum, qui a lui-même joué un rôle déterminant dans la mobilisation des virologues autour de ce virus. “C’était un travail d’équipe et là on ne récompense que les gens de Pasteur, c’est toujours un peu dommage”, a-t-il regretté, soulignant que “c’est un peu l’aspect négatif du Prix Nobel”. Au sein d’autres équipes françaises et américaines, il a notamment cité le nom de l’Américain Robert Gallo, qui avait confirmé l’isolation du virus en 1984. “Je pense que c’est bien que Françoise Barré-Sinoussi soit associée à ce prix, parce qu’on pouvait craindre qu’il ne soit remis qu’à des têtes d’affiche.C’est déjà une chose positive” , a-t-il cependant ajouté.

(avec AFP)

October 06th 2008 Posted to News, Europe, Fall 2008

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The Doctors Who Are Redefining Life and Death

By William Saletan

Sunday, October 5, 2008

www.washingtonpost.com

Think being the next president would be a brutal job? Imagine being a transplant surgeon. You can’t tell the parents of a dying kid when to pull the plug, but you have to be there, ready, the minute he expires. You have to wait until he’s dead, but not so long that his organs become useless. You can give him drugs to keep his organs healthy, but you mustn’t technically revive him. And you can’t remove and restart his heart until it’s been declared kaput.

Pick up a recent issue of the New England Journal of Medicine, and you’ll see the far edge of this tortured world. In the journal, doctors at Children’s Hospital in Denver describe how they removed hearts from infants 75 seconds after they stopped. The infants were declared dead of heart failure, even as their hearts, in new bodies, resumed ticking.

Is this wrong? We like to think that moral lines are fixed and clear: My heart is mine, not yours, and you can’t have it till I’m dead. But in medicine, lines move. “Dead” means irreversibly stopped, and stoppages are increasingly reversible. And when life support ends, says one bioethicist, “not using viable organs wastes precious life-saving resources” and “costs the lives of other babies.” Failure to take body parts looks like lethal negligence.

How can we get more organs? By redefining death. First we coined “brain death,” which let us take organs from people on ventilators. Then we proposed organ retrieval even if non-conscious brain functions persisted. Now we have “donation after cardiac death,” the rule applied in Denver, which permits harvesting based on heart, rather than brain, stoppage.

But stoppage is complicated. There’s no “moment” of death. Some transplant surgeons wait five minutes after the last heartbeat; others wait two. The Denver team waited 75 seconds, reasoning that no heart is known to have self-restarted after 60 seconds. Why push the envelope? Because every second counts. Mark Boucek, the doctor who led the Denver team, says that waiting even 75 seconds makes organs less useful.

So how can death be declared based on irreversible heart stoppage when the plan is to restart that heart in a new body? Boucek offers two answers. First, even if the heart resumes pumping in a new body, it couldn’t have done so in the old one. (That used to be true, but today, hearts can be restarted by external stimulation well after two or even five minutes.) Second, Boucek says the heart is dead because the baby’s parents have decided not to permit resuscitation. In other words, each family decides when its loved one is dead. In a commentary attached to the Denver report, another ethicist proposes extending this idea — letting each family decide not just whether to resuscitate but also at what point organs can be harvested. Brain death? Cardiac death? Persistent vegetative state? Death is whatever you say it is.

Robert Truog, an ethicist who supports the Denver protocol, says this redefinition of death has gone too far. Let’s accept that we’re taking organs from living people and causing death in the process, he argues. This is ethical as long as the patient has “devastating neurologic injury” and has provided, through advance directive or a surrogate, informed consent to be terminated this way. We already let surrogates authorize removal of life support, he notes. Why not treat donations similarly? Traditional safeguards, such as the separation of the transplant team from the patient’s medical team, will prevent abuse. And the public will accept the new policy since surveys suggest we’re not hung up on whether the donor is dead.

But down that road lies even greater uncertainty. How devastating does the injury have to be? If death is vulnerable to redefinition, isn’t “devastating” even more so? The same can be asked of “futility,” the standard used by the Denver team to select donors. Is it safe to base lethal decisions on the ebb and flow of public opinion, particularly when the same surveys show confusion about death standards? And can termination decisions really be insulated from pressure to donate? Even if each family makes its own choice, aren’t we loosening standards for termination precisely to get more organs?

Modern medicine has brought us tremendous power. Boundaries such as death, heart stoppage and ownership of organs have guided our moral thinking because they seemed fixed in nature. Now we’ve unmoored them. I’m a registered donor because I believe in the gift of life and think that the job of providing organs falls to each of us. So does the job of deciding when we can rightly take them.

human@slate.com

William Saletan is Slate’s national correspondent.

October 05th 2008 Posted to Euthanasia, US, Biomedical Ethics, Fall 2008

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Male transsexual gene link found

Can DNA test ‘discover’ your child’s talents?

Taking a Peek at the Experts’ Genetic Secrets

Intelligence Squared US - debate on Universal Healthcare

Election 2008 Health Care in the Next Administration

Nobel de médecine : deux Français récompensés pour leurs travaux sur le sida

The Doctors Who Are Redefining Life and Death

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