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The Fertility Show

Issue 252 (06 April 2004)


Welcome to BioNews by email, published by the Progress Educational Trust, providing you with news, comment and reviews on genetics, assisted conception, embryo/stem cell research and related areas.

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News Digest




Wise words from across the pond?

05 April 2004

By Juliet Tizzard

Director, Progress Educational Trust

Appeared in BioNews 252
The President's Council on Bioethics, chaired by Dr Leon Kass, has published a report into assisted reproductive technologies. Judging from draft recommendations published at the end of 2003 and from previous reports on related issues, supporters of IVF and  embryo research were expecting a long list of bans and warnings. Which is why the relative restraint of the recommendations made in 'Reproduction and responsibility' have caught many by surprise.

In September 2003, a series of working papers were published by the council addressing  'biotechnologies that touch the beginnings of life'. Some of the papers have appeared relatively unaltered as chapters in 'Reproduction and responsibility'. Others have changed dramatically. For instance, most of the recommendations about professional oversight - such as more support for patient decision-making, improving adherence to guidelines or creating minimum standards - went unchanged from the draft to the final report. The council seems to have radically changed its approach, however, in recommendations for legislative control of particular technologies.

In draft form, the legislative proposals suggested prohibitions on a number of routine practices in assisted reproduction such as gamete donation on the grounds that children have the right to no more nor less than two human parents. The draft recommendations also talked of 'respect for early stages of nascent human life', of embryos as 'children to be' and raised the possibility of a ban on the use of human embryos for research. In their final form, the legislative proposals mention none of these issues, instead focusing upon a list of prohibitions not dissimilar from those in place in the UK, including reproductive cloning, the mixing of human and animal gametes and the use of embryos in research beyond 14 days of development. Council member, William Hurlbut, told the Scientist that members could not reach a consensus on the use of human embryos for research, so the final report detailed only those recommendations on which there was unanimity. The fact that a prohibition on embryo research was removed from the final version does not imply endorsement.

Given this silence on embryo research, 'Reproduction and responsibility' has come as a great relief to the pro-research community in the United States, particularly those seeking to prevent a federal ban on embryonic stem cell research. As Pamela Madsen, executive director of the American Infertility Association, says, much of the 'incendiary language' of the draft report has gone, providing some reassurance to practitioners and patients alike.

However, 'Reproduction and responsibility' should not be seen as an endorsement of reproductive medicine. Despite the removal of the embryos as children language, the report is shot through with more subtle disapproval of conception in the laboratory. In an attempt at balance, the opening chapter makes passing reference to the benefits that embryo research can bring to the lives of patients and their babies. But it is promptly eclipsed by an exploration of the council's concerns: 'The existence of the early embryo in the artificial setting of the laboratory... risks isolating and reifying the early stages of human development, thus making it easy to forget their natural place in a continuous, goal-directed, and humanly significant process of human procreation... Treating as 'normal' all the novel things we are learning to do with embryonic human life ex vivo might also desensitize us to still greater departures from the human way of procreating, putting us at risk of weakening, in thought as well as in deed, our regard for the meaning and worth of human procreation.'

This eulogy to natural conception, of which these quotes form just a small part, shows that the President's Council on Bioethics is in no way happy with its unnatural, laboratory-based counterpart. It is understandable that, in the politically charged atmosphere of the embryo research debate in the United States, this report has been seen as a welcome compromise. In the UK and other countries where the stakes aren't as high, we can perhaps be more critical.

Juliet Tizzard is the Founder of BioNews and was formerly Director of the charity that publishes it, the Progress Educational Trust (PET). She is coauthor of Key Issues in Bioethics (buy this book from Amazon UK) and Designer Babies: Where Should We Draw the Line? (buy this book from Amazon UK).



02 April 2004 - by BioNews 
President Bush's Council on Bioethics has released wide-ranging recommendations calling for greater regulation of assisted reproductive technology (ART). The report, entitled 'Reproduction and Responsibility: The Regulation of the New Biotechnologies', advises that the American federal government should become more involved in the regulation of fertility clinics. It says the fertility...
16 February 2004 - by BioNews 
News that scientists in South Korea have managed to clone human embryos and to derive stem cells from one of them has unsurprisingly generated much debate about the politics, law and ethics of human cloning. South Korea has already passed a law prohibiting cloning for reproductive purposes; now the scientists...
24 November 2003 - by BioNews 
The President's Council on Bioethics has apparently released several draft documents that recommend 'sweeping changes' to the regulation of assisted reproduction technologies (ARTs) in the US, and 'far-reaching' legislation that would ban some embryo research. The recommendations follow the publication of a report published earlier this year, entitled 'US Public...


Fetal gene therapy on the horizon?

06 April 2004

By Dr Jess Buxton

Appeared in BioNews 252

Doctors may one day be able to use gene therapy to treat fetuses affected by genetic conditions, say UK scientists. Researchers at Imperial College, University College and the Royal Free Hospital, all in London, have successfully used gene therapy to treat unborn mice affected by haemophilia B. Simon Waddington, of Imperial College, presented the team's results at the first annual meeting of the British Society for Gene Therapy, held in Oxford this week. The scientists now plan to assess the safety and ethical issues associated with using the technique in humans, according to a report in the Daily Telegraph newspaper.

People with haemophilia, nearly always boys, bruise easily and bleed for longer if they injure themselves. Haemophilia B is caused by a missing or faulty version of an X chromosome gene, which makes a crucial blood clotting protein called Factor IX. Dr Waddington and colleagues used an adapted version of the human immunodeficiency virus (HIV), altered so that it can no longer cause disease, to deliver a working copy of the Factor IX gene to mouse fetuses with haemophilia B. Waddington said that gene therapy in the womb (in utero) was now advancing to where it could be considered on patients in special circumstances. He cited cases where a genetic disorder is diagnosed during pregnancy, but where the parents do not wish to terminate the pregnancy, for religious or personal reasons. Charles Rodeck, of University College, went further, saying that fetal gene therapy could provide another option for affected families, apart from terminating or continuing with an untreated pregnancy. 'We would like this to be a third option - perhaps the best option' he said.

Professor Charles Coutelle, head of the gene therapy research group at Imperial College, said that it would be years before human fetal gene therapy trials could be considered. But if the approach is shown to be safe and efficient in larger animals, such as sheep, then it could offer hope for new treatments for diseases such as muscular dystrophy and cystic fibrosis. It is thought that fetal gene therapy might be more successful than treating children, since it would be easier to target more of the affected tissue, and there would be less chance of serious immune reactions.

A spokesperson for the Department of Health said that the researchers would need permission from both the Gene Therapy Advisory Committee (GTAC) and the Medicines and Healthcare products Regulatory Agency (MHRA), before carrying out a human fetal gene therapy trial. Charles Coutelle said: 'We would like another five years to make decisions about which diseases and which vector [gene delivery system] to choose, so we can do all the necessary safety tests we and the regulatory bodies think are required'.

A 1998 GTAC report on gene therapy in utero said that this approach did not raise any new ethical issues, compared to other medical treatments carried out in the womb, or the use of gene therapy in other situations. However, GTAC cautioned that existing concerns over the potential for germ-line transmission (the genetic alteration of egg or sperm-producing cells) remain. 'Such concerns would need to be fully answered in the event of any protocols proposing in utero gene therapy being presented to GTAC', the report concluded.

Dr Jess Buxton is Contributing Editor at BioNews and a Trustee at the charity that publishes it, the Progress Educational Trust (PET). She is co-author of The Rough Guide to Genes and Cloning (buy this book from Amazon UK) and Human Fertilisation and Embryology: Reproducing Regulation (buy this book from Amazon UK).

The Daily Telegraph | 30 March 2004
BBC News Online | 30 March 2004


19 October 2015 - by Dr Jane Currie 
Researchers have announced the first clinical trial of stem-cell therapy for fetuses still in the womb, as a treatment for brittle bone disease...

29 March 2004 - by BioNews 
Gene therapy trials for haemophilia, muscular dystrophy and childhood blindness are to receive £3 million funding, the UK Department of Health has announced. A further £1 million has been set aside for research into the long-term safety of some gene therapy techniques. The funding is part of a £50 million...
18 February 2002 - by BioNews 
Doctors have successfully used gene therapy in the treatment for a type of haemophilia, a condition caused by a defect in one of the genes which controls blood clotting. Sufferers bruise easily, are prone to nosebleeds, and have a risk of internal bleeding. A virus that had been genetically altered...
06 March 2000 - by BioNews 
Two patients in a gene therapy trial for haemophilia, a blood-clotting disorder, have shown a marked improvement in their condition. The US team, from Stanford University School of Medicine and the Children's Hospital of Philadelphia, admit they were surprised by the results, which are published in this month's Nature Genetics...


Vasectomies may be less reversible than thought

31 March 2004

By BioNews

Appeared in BioNews 252

Men considering having a vasectomy, believing the procedure might later be reversible, may want to think even more carefully about their decision. Research presented today in Cheltenham, UK, at the annual meeting of the British Fertility Society, suggests that even if the surgical effect of a vasectomy can be undone, the longer term effects on sperm production may not be so reversible.

Vasectomies work by deliberately obstructing the tube that carries sperm from the testis, thereby preventing sperm, which continues to be produced, from being ejaculated. Researchers from the School of Medicine, Obstetrics and Gynaecology at Queen's University, Belfast, studied men who had vasectomies as a form of contraception after having children ten years ago. Years after the vasectomy, they found the men had a much lower sperm production rate compared to those (fertile) men who hadn't ever had the operation. In addition, the pregnancy success rate using ICSI (intracytoplasmic sperm injection ) - a modified IVF treatment in which a single sperm is injected into an egg to fertilise it - was more than 50 per cent lower for the vasectomised men, although the researchers said that a larger cohort was needed in future studies in order to prove these results.

The Belfast study focused on 21 men who had vasectomies and 39 non-vasectomised men. Sperm was obtained from each of the men by testicular biopsy. The researchers found that those who had a vasectomy had sperm counts at 3.6 million sperm per gram of tissue, compared to 11.2 million sperm per gram in the other men: almost three times lower. They also found that although the samples of the vasectomised men showed normal level of Sertoli cells (cells that help nourish the sperm during development in the testes), the actual number of developing sperm cells was lower than in the other men.

Dr Carmel McVicar, who presented the work, said the research team did not expect to see 'this reduction in sperm count or pregnancy due to previous vasectomy and ongoing studies are attempting to decipher the reasons for it'. She added: 'Men attend our clinic every week wanting to have a second family with a new partner. Men who are considering vasectomy certainly need to think very carefully about the long-term consequences to their future fertility'.

At the same conference, another Belfast-based research team presented findings which lend further weight to the theory that smoking cannabis can be damaging to a man's fertility. THC (tetrahyrocannabinol) - the active chemical ingredient found in cannabis - was found to impede the motility (movement and drive) of sperm and its ability to break through the outer layer of the egg. Sperm samples treated with THC were found to be up to 45 per cent less likely to move in a forwards direction and nearly 30 per cent of the treated sperm failed to produce the enzymes needed to penetrate an egg.

BBC News Online | 31 March 2004
Double whammy for fertility
The Guardian | 31 March 2004
Even if reversed, vasectomy lowers sperm count
Yahoo Daily News | 30 March 2004
BBC News Online | 31 March 2004


22 June 2006 - by Dr Jess Buxton 
BioNews reporting from ESHRE conference, Prague (sponsored by Planer cryoTechnology). By Dr Jess Buxton: Vasectomies can cause chromosomal abnormalities in sperm, say a team based at Chulalongkorn University in Bangkok, Thailand. The researchers, who presented their findings at the annual conference of the European Society of Human Reproduction and Embryology...

16 October 2003 - by BioNews 
Three new studies presented at the annual conference of the American Society of Reproductive Medicine (ASRM) last week suggest that body weight, caffeine and cannabis can all affect a man's sperm. Caffeine 'perks up' sperm, by making it swim faster, while cannabis, despite its initial effect being similar to that...
18 December 2000 - by BioNews 
A team of US researchers has found that naturally-occurring cannabis-like chemicals may control both sperm motility and their ability to fertilise an egg. The scientists, based at the University at Buffalo, State University of New York, say their study raises the possibility that heavy use of marijuana could interfere with...


Viagra's side-effects may damage fertility

01 April 2004

By BioNews

Appeared in BioNews 252

Viagra, the 'wonder-drug' promoted for its ability to relieve impotence in men, may have some unwanted side-effects. Research presented today in Cheltenham, UK, at the annual meeting of the British Fertility Society, suggests that men who are taking Viagra when trying to start a family may actually be decreasing their ability to father a child. However, Viagra manufacturers Pfizer deny that the drug causes fertility problems.

Viagra was designed to enable an increase of blood flow to the penis to overcome impotence problems. However, since its release it has increasingly been used 'recreationally', and is also used by fertility clinics in order to aid patients' semen production. Viagra is what is known as a 'phosphodiesterase inhibitor', a type of chemical known to affect sperm function, so the study looked at what effect the drug has on sperm. The researchers discovered that using Viagra speeds up chemical changes within sperm, rendering them infertile by the time they reach an egg. This chemical change, known as the acrosome reaction, normally only occurs when a sperm reaches an egg, and is when sperm release enzymes that break down the outer layer of the egg allowing the sperm head to penetrate it more easily. However, if the acrosome reaction occurs too early, the sperm become ineffective and unable to enter the egg, as they have no digestive enzymes left.

Scientists from the School of Medicine, Obstetrics and Gynaecology at Queen's University, Belfast, took 45 semen samples and split them into two groups. Half of the samples were treated with Viagra, while the other half was used as control. The research team found that while Viagra increased sperm motility, up to 79 per cent more sperm in the Viagra-treated samples had clearly undergone premature acrosome reactions. These findings lead the researchers to say they had 'significant concerns for Viagra use in assisted reproduction'. They added that the findings echo previous studies in mice that showed that the presence of Viagra meant that fewer eggs would be fertilised and fewer resulting embryos developed normally.

Dr Sheena Lewis, a member of the team, said that their 'message is that caution should be taken when using recreational drugs if you are hoping to start a family'. But a representative of the European Society for Sexual Medicine, Dr John Dean, said it was important that the study wasn't reported in an alarmist fashion, adding that sperm is highly sensitive in laboratory conditions. 'Childless couples - and the general population - should be aware that in the five years that Viagra has been around no overall detrimental effect on fertility has been observed', he said.

However, Pfizer says that there has been no evidence of Viagra affecting fertility following its use by 23 million men over six years. 'It's one study and it was in a test tube basically, not in real people', said spokesman David Watts.

Pfizer says Viagra does not decrease fertility
Reuters | 02 April 2004
Report claims viagra could harm fertility
The Scotsman | 01 April 2004
Viagra could reduce men's fertility
New Scientist | 31 March 2004
BBC News Online | 31 March 2004


28 June 2004 - by BioNews 
BioNews reporting from ESHRE conference, Berlin: Using a mobile phone and taking the anti-impotence drug Viagra may both affect a man's fertility, according to a report in the Sunday Times. A study carried out by researchers at the University of Szeged in Hungary found a link between 'heavy use' of...

30 October 2000 - by BioNews 
Ten UK women are reported to be pregnant following treatment with the male impotence drug Viagra, prescribed by their consultant Dr Mohammed Taranissi. But fertility expert Lord Robert Winston has expressed concerns over what he called a 'reprehensible and dangerous' treatment. 'It is extraordinary that he has been allowed to...
15 May 2000 - by BioNews 
A UK woman has become pregnant after taking the anti-impotence drug Viagra during fertility treatment, her doctor announced last week. Dr Mohammed Taranissi, head of the Assisted Reproduction and Gynaecology Centre, London, said his patient had been trying to get pregnant for six years, and had undergone two unsuccessful in...
10 April 2000 - by BioNews 
A team of US researchers has shown that Viagra, the anti-impotence drug, may help some women overcome their fertility problems. Geoffry Sher, of the Sher Institute for Reproductive Medicine, Las Vegas, gave the drug to four women who had failed to become pregnant following at least three in vitro fertilisation...


US bioethics Council releases ART recommendations

02 April 2004

By BioNews

Appeared in BioNews 252

President Bush's Council on Bioethics has released wide-ranging recommendations calling for greater regulation of assisted reproductive technology (ART). The report, entitled 'Reproduction and Responsibility: The Regulation of the New Biotechnologies', advises that the American federal government should become more involved in the regulation of fertility clinics. It says the fertility business is rapidly increasing in the US, but at present is largely unregulated.

The recommendations were originally released in draft form in November 2003, and the final wording of the draft version was approved in January 2004, after some amendments. They form part of the Council's continuing project on 'US Biotechnology and Public Policy and the Biotechnologies Touching the Beginnings of Human Life', which began more than a year ago and is looking at a wide range of issues in assisted reproduction 'from consumer protection to research regulation'. The latest recommendations form the final version of the report that will be sent to the President for approval.

In the report, the Council also says that Congress should, for the moment, set aside the divisive issue of human embryo cloning for research and quickly ban other embryo experiments where there is consensus that they are unethical. These include limiting research on human embryos to a maximum of 10 to 14 days after fertilisation, the creation of human-animal chimeras, transferring IVF embryos to the womb for purposes other than reproduction, creating embryos from fetal cells and gestation of human embryos in animals. It also proposes that 'attempts to conceive a child by any means other than the union of egg and sperm' should be prohibited, which would have the effect of banning human reproductive cloning. A statement from five Council members, attached to the report, says 'we believe that this language provides a way for Congress to ban reproductive cloning while agreeing to disagree on the question of cloning for biomedical research'.

The 'Reproduction and Responsibility' report also examines the converging fields of fertility treatment, human genetics and embryo research and says that the Council found an 'ethically unstructured world in which the lines between science, medicine and human experimentation are unclear'. It calls for an input of federal funds to expand data collection from fertility clinics - particularly on the use of genetic tests that can help parents select the sex and other traits of their children. These techniques involve the removal of a cell from an embryo, and the long-term consequences of this, if any, should be studied. It also calls for a long term study to help resolve lingering concerns about the health effects of various assisted reproduction techniques on patients and their offspring.

Dr Leon Kass, chair of the Council, said that it was their hope 'that public spirited members of Congress might see fit to embrace these matters', adding 'with the field moving very rapidly - and no existing oversight, never mind regulatory mechanisms, in place - I think it is urgent we set down some markers on which everyone can agree while continuing to argue about those things that still divide us'. But despite amendments made to the original wording of the report, some people remain sceptical. 'The Council appears to have struck a more balanced tone', said Pamela Madsen from the American Fertility Association, but added 'we will have to watch this very carefully' when it comes to writing legislation. A spokesperson for the American Society for Reproductive Medicine said that it was good that the original report had been altered in response to comments from patient and professional groups and that there is 'much in this report that we can support'. It was also good, they said, that some of the more 'technical' aspects had not yet been included, as even the most carefully worded legislation could be affected in debates and end up as 'bad law'.

CBS News | 31 March 2004
Greater regulation of fertility encouraged
The Washington Post | 02 April 2004
MSNBC | 31 March 2004
U.S. panel calls for test-tube baby study
The Chicago Tribune | 31 March 2004


01 November 2004 - by BioNews 
The UK's Human Fertilisation and Embryology Authority (HFEA) is reported to have said that it wants to begin to monitor the long-term health of children born from IVF and related fertility treatments. In particular, it will focus on the possible effects of ICSI (intra-cytoplasmic sperm injection), a procedure in which...
19 April 2004 - by BioNews 
IVF success rates in American fertility clinics have improved, and the number of women having three or more babies in one pregnancy has decreased over the past ten years, a new study shows. The drop in multiple births following IVF treatment reflects a fall in the average number of embryos...
05 April 2004 - by Juliet Tizzard 
The President's Council on Bioethics, chaired by Dr Leon Kass, has published a report into assisted reproductive technologies. Judging from draft recommendations published at the end of 2003 and from previous reports on related issues, supporters of IVF and embryo research were expecting a long list of bans and warnings...

08 March 2004 - by BioNews 
Adding to the plethora of recent news related to embryonic stem (ES) cell research in the US, President George W Bush is being criticised for the reshuffle of the Council on Bioethics that took place last week. In the reshuffle, Elizabeth Blackburn, a professor of cell biology at the University...
01 March 2004 - by BioNews 
President George W Bush has 're-shuffled' the council that advises him on cloning and other issues in biomedical research. At the end of last week, two members were dismissed from the US President's Council on Bioethics and replaced by three new members. Elizabeth Blackburn, from the University of California at...
19 January 2004 - by BioNews 
The US President's Council on Bioethics has approved the wording of its latest draft version of its recommendations on assisted reproductive technologies. The recommendations were originally released in draft form in November 2003 and form part of the Council's continuing project on 'US Biotechnology and Public Policy and the Biotechnologies...
24 November 2003 - by BioNews 
The President's Council on Bioethics has apparently released several draft documents that recommend 'sweeping changes' to the regulation of assisted reproduction technologies (ARTs) in the US, and 'far-reaching' legislation that would ban some embryo research. The recommendations follow the publication of a report published earlier this year, entitled 'US Public...
18 February 2002 - by BioNews 
A meeting of President Bush's Council on Bioethics ended in division last week. The council members are said to be 'deeply divided over the moral status of the human embryo' and have 'given up hope' that a consensus on the ethics of human cloning can be reached. Leon Kass, a...


Of rats, mice and men

05 April 2004

By BioNews

Appeared in BioNews 252

The Norway brown rat joins humans and mice as the third mammal to have its entire genetic code unveiled. An international group of scientists has published the draft genome sequence of Rattus norvegicus, in the journal Nature. For years, medical researchers have used the rat in laboratory studies to understand disease and develop new treatments, so its entire DNA sequence should prove invaluable. And comparing the rat genome to the human and mouse genomes will allow scientists to work out which DNA sequences are unique to rodents, and which are shared by all mammals. 'This is an investment that is destined to yield major pay-offs in the fight against human disease', said Elias Zerhouni, director of the US National Institutes of Health (NIH).

The work was carried out by the Rat Genome Sequencing Project Consortium (RGSPC), made up of 220 researchers based at private and public institutions in six different countries. As well as the rat genome itself, which consists of 2.75 billion base-pairs (chemical 'letters') of DNA, the RGSPC publication also includes a detailed comparison of the rat, mouse and human genomes. It reveals that humans and rodents last shared a common ancestor around 80 million years ago, with rats and mice parting company 12-24 million years ago. Around ten per cent of the rat's genes are shared by mice, but absent from humans, suggesting they are 'rodent-specific'. Rats also have several genes not shared by either humans or mice, most of which are involved in detecting smells and dealing with poisons.

The rat genome contains an estimated 25,000 different genes, 90 per cent of which have human counterparts. Professor John Mullins, a geneticist at Edinburgh University said of the publication: 'This is really exciting news for research into heart disease, stroke and high blood pressure', adding that the 'sequencing of the rat genome will help us to identify genes that are important to these illnesses'. Researchers looking at diabetes, psychiatric disorders and cancer will also benefit from a detailed knowledge of rat genes. Several other mammal genomes are in the pipeline - for example, a draft version of the chimp genome was unveiled at the end of last year, with a detailed analysis to be published shortly.

The cow, rhesus macaque monkey, opossum and boxer dog genomes are also nearing completion; these should shed further light on human genes. 'Comparing the human genome with those of other organisms is the most powerful tool available to understand the complex genomic components involved in human health and disease', said Francis Collins, director of the US National Human Genome Research Institute.

Breakthrough on rat genome gives hope of new cancer drugs
The Independent | 01 April 2004
Rat genome unveiled
Nature News | 01 April 2004
Rats join genome club
San Francisco Chronicle | 01 April 2004
BBC News Online | 01 April 2004


11 October 2004 - by BioNews 
The cow joins the rat, mouse, dog, chimp and humans as the latest animal to have its draft genetic code unveiled. Scientists hope that the achievement will help agricultural researchers improve the health of cattle, as well as the quality of beef and dairy products. The data, which has been...

12 December 2003 - by BioNews 
US scientists have unveiled the entire genetic code of our closest animal relative, the chimpanzee. Teams at the Massachusetts Institute of Technology in Boston and the Washington University School of Medicine took less than a year to churn through the three billion DNA base-pairs (chemical letters) that make up the...
22 April 2003 - by BioNews 
The final version of the entire human genome sequence was unveiled last week by the International Human Genome Sequencing Consortium, more than two years ahead of schedule. Since the 'rough draft' was published in February 2001, researchers have been proof-reading the sequence, and filling in most of the gaps. A...
07 May 2002 - by BioNews 
A team of international scientists have announced that it has sequenced the mouse genome. The results of the publicly-funded project will be of benefit to scientists studying the human genome as, to quote one of the scientists involved, Dr Tim Hubbard of the UK's Sanger Centre, the mouse is 'a...
05 February 2001 - by BioNews 
US company Celera Genomics is to share a $58m (£40m) grant with the Baylor College of Medicine, Texas, to read the entire DNA sequence of the rat. Data from the rat genome project, which is being funded by the US National Institutes of Health (NIH), will be released weekly into...


Gene clue in autism research

05 April 2004

By BioNews

Appeared in BioNews 252

Variations in a gene involved in energy production could be linked to autism, US researchers say. A team based at the Mount Sinai School of Medicine in New York studied 720 people from 411 families, who all have either autism, or the related condition autistic disorder. They found that variations in a gene that makes a protein involved in producing the cell's 'fuel' molecule, ATP (adenosine triphosphate), appeared to double the risk of autism. While previous studies have linked rare genetic mutations to autism in individual families, this is the first to identify a genetic susceptibility that affects a broad population, the study authors say. Their findings, published in the American Journal of Psychiatry, suggest that disruption to the brain cells' fuel supply could stop them from working normally.

Autism is a lifelong developmental disability that typically appears during the first three years of life. The disorder affects social and language skills, and the way in which a child relates to people, objects and events. Autism often runs in families, suggesting that it has a genetic basis, although it is thought that the combined effects of at least 5-10 different genes are involved. The gene variants identified in the latest study appear to increase the risk of developing autism by 2-5 times, although the authors stress that further work is needed to confirm the link. 'It looks like they might have something... but it's a bit too soon to say definitively', commented Susan Santangelo, of Harvard University.

The gene, called SLC25A12, makes a protein called the mitochondrial aspartate/glutamate carrier, which is involved in the production of ATP. Genetic mutations that affect the rate of ATP-production could disrupt the supply of the large amounts of energy required by the brain, which in turn could trigger the symptoms of autism, the authors speculate. Inheriting these gene variants is not in itself enough to cause the disorder, although they do appear to double a person's risk. Lead author Joseph Buxbaum says that 'it is an accumulation of genetic factors that cause the disease', adding 'our current challenge is to find more of these genes'.

BBC News Online | 31 March 2004
Gene linked with higher autism risk | 02 April 2004
ScienceDaily | 01 April 2004
Scientists identify a first gene for autism
The Times | 01 April 2004


25 October 2009 - by Dr Rebecca Robey 
US scientists have identified a genetic trait that is strongly associated with autism. The genetic change does not involve a mutation within the DNA sequence of a gene but instead involves an alteration in the physical structure of the DNA which affects the way a gene is turned on and off. The researchers hope that the new findings will lead to novel ways to diagnose and treat autism....
26 March 2007 - by Dr Jess Buxton 
Many cases of autism could be linked to spontaneous genetic changes that result in large chunks of missing DNA, according to a new US study. The research, published early online in Science, shows that so-called 'copy number variants' could be an important factor in the appearance...
26 February 2007 - by Dr Laura Bell 
Recent research published online in the journal Nature Genetics has revealed new genetic variations which may contribute to autism. Autism, along with related conditions such as Asperger syndrome, is characterised by a range of severity and symptoms. The conditions are therefore collectively known as autistic spectrum...
04 May 2006 - by Dr Jess Buxton 
Mice bred to lack a crucial brain gene show many of the characteristics of autism, say US scientists based at the University of Texas. The team created a 'knockout' mouse that is missing a gene called Pten, specifically in areas of the brain associated with learning...
29 July 2005 - by BioNews 
In two separate studies, scientists working at Vanderbilt University in Tennessee, US have shown that a faulty gene involved in controlling levels of the brain chemical serotonin is linked to an increased risk of autism. The first study, published in the American Journal of Human Genetics, shows that many different...


Human chromosomes 13 and 19 decoded

05 April 2004

By BioNews

Appeared in BioNews 252

Scientists have published the complete DNA sequences of chromosomes 19 and 13, bringing the total number of fully decoded human chromosomes to nine. A team lead by researchers at the Stanford Human Genome Center in Paolo Alto, US, carried out the chromosome 19 project, while scientists at the Wellcome Trust Sanger Centre in Hinxton, UK, lead the chromosome 13 work. Both groups published their findings in the journal Nature. The results show that chromosome 19, packed with nearly 1,500 genes, is the most gene-dense chromosome analysed in detail so far. In contrast, chromosome 13 appears to have one of the lowest gene densities, with an estimated 633 genes along its length.

An international consortium unveiled the final version of the entire human genome on 14 April 2003. They found that it is made up of 2.9 billion base-pairs (chemical 'letters') of DNA, and contains an estimated 25-30,000 different genes. Researchers have since been looking at each of its 24 different chromosomes in detail, to identify the 'coding' stretches of DNA that make up these genes. They have also been filling gaps - stretches of DNA sequence that could not easily be determined - and double-checking for any errors. As well as chromosomes 19 and 13, scientists have also published complete, fully-analysed sequences for chromosomes 22, 21, 20, 14, 7, 6 and the Y chromosome.

Chromosome 13, which harbours the breast cancer gene BRCA2, as well as genes involved in retinoblastoma (inherited eye cancer) and schizophrenia, is made up of around 96 million DNA base-pairs. Of its 633 genes, 231 had already been identified. 'Having this sort of information out there is going to make life so much easier for a lot of people', said Andrew Dunham, who lead the chromosome 13 project. Dunham also said that some of the 'barren' gene-poor areas of chromosome 13 contain DNA sequences important for gene control.

Chromosome 19, known to carry genes involved in diabetes, hereditary high cholesterol levels and myotonic muscular dystrophy, is made up of around 56 million DNA base-pairs. It contains an estimated 1461 genes, including 141 that were previously unknown. Although nearly 100 chromosome 19 genes have already been linked to inherited traits or diseases, the full chromosome sequence should speed up the search for at least another 20 genes involved in inherited disorders.

New chromosome mapping offers major step forward
Reuters | 31 March 2004
Sequencing of 2 chromosomes completed
MSNBC | 31 March 2004
Two more human chromosomes are completed
Genome News Network | 31 March 2004


11 April 2005 - by BioNews 
US researchers have unveiled the 'gold-standard' versions of the DNA sequence of human chromosomes two and four. Together, these two bundles of genetic material make up five per cent of the entire human genome. The analysis of chromosome four has revealed the largest 'gene deserts' identified so far - vast stretches...
17 September 2004 - by BioNews 
US researchers have unveiled a complete 'gold-standard' version of the DNA sequence of human chromosome five. Consisting of 181 million base-pairs (chemical 'letters') of DNA, chromosome five is the largest human chromosome analysed in detail to date. However, despite its size it contains relatively few genes - just 923 - compared to...



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Moving the Boundaries of Human Reproduction

Public Conference
8 December 2017

Speakers include

Professor Azim Surani

Professor Magdalena Zernicka-Goetz

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Allan Pacey

Dr Sue Avery

Professor Richard Anderson

Dr Elizabeth Garner

Dr Jacques Cohen

Dr Anna Smajdor

Dr Andy Greenfield

Vivienne Parry

Dr Helen O'Neill

Dr César Palacios-González

Philippa Taylor

Fiona Fox

Sarah Norcross


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