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Issue 641 (23 January 2012)


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




S.H. v Austria denies infertile Europeans human rights

23 January 2012

By Professor Richard Storrow

School of Law, City University of New York, USA

Page URL: Appeared in BioNews 641
Procreative liberty and the right to legal recognition of parent-child relationships continue to be prominent themes in disputes between individual citizens and government over access to assisted reproduction. The judiciary has been largely reluctant to state whether access to reproductive technology is a human right. The European Court of Human Rights (ECtHR) has held that a person's decision to have children with reproductive technology is an aspect of private and family life covered by Article 8 of the European Convention on Human Rights (the Convention) but has defined the scope of the Convention's protection only in very narrow circumstances.

In S.H. v Austria (1), its most recent pronouncement on reproductive technology, the ECtHR declined to define the right any further and held that the individual member states of the Council of Europe should themselves decide whether, how, and when to allow citizens to use reproductive technology. S.H. brings sharply into focus the Court's unwillingness to play a more participatory role in these controversies or to envisage the Convention as having much to say on the question. In effect, the decision signals that assisted reproduction is not an international human right in Europe.

The ECtHR has dealt with questions involving assisted reproduction on four occasions. S.H. was the only case not brought against the United Kingdom. The petitioners in all four cases claimed violations of Article 8, the Convention's guarantee of family and private life. Three cases involved access to procedures, and the fourth dealt with legal parentage in a case of artificial insemination by donor. The first three to come before the ECtHR were headline-grabbers: a couple fighting over the right to use frozen embryos (2), a female-to-male transsexual seeking legal recognition as a father (3), and a prisoner seeking to impregnate his wife via the transport of his sperm beyond the prison walls (4).

In the last of these, the Court struck a hopeful note: '[W]here a particularly important facet of an individual's existence or identity is at stake (such as the choice to become a genetic parent), the margin of appreciation accorded to a state will in general be restricted'. This statement carried little weight, however, in S.H., the only one of the cases involving the more common problem of infertile couples stymied in their efforts to have a family by a legal ban on gamete donation.

Austria prohibits egg donation altogether and sperm donation for IVF because it favours genetic ties in parent-child relationships and wishes to protect women who might be exploited by egg donation. Austria does not object to sperm donation for artificial insemination because it is a well-known and not particularly sophisticated method that can easily be performed at home and would be difficult to prevent. The ECtHR admitted that there is a consensus in Europe to allow gamete donation for IVF, but characterised the consensus as too malleable, too subject to change in response to the 'fast-moving medical and scientific developments' that generated it.

Such a consensus, according to the Court, is not the type that should limit a government's discretion to regulate as it sees fit in this area. Moreover, the Court believed that physicians were not in a particularly good position to avert the unknown consequences to children of 'splitting motherhood'. Finally, it was determined that Austria's regulation was fair and measured because it left open the possibility that Austrians barred from certain procedures at home could have them performed abroad in more permissive countries.

S.H. sends a strong signal that European countries are free to impose whatever restrictions on assisted reproduction they may desire and that they might even be permitted to outlaw assisted reproduction altogether (5). Although no country in Europe bans assisted reproduction, the ECtHR's traditional vindication of the rights of genetic parents in its decisions on children born out of wedlock and in the Dickson case described above, makes it likely that it would approve of a ban on the use of the gametes of third parties in assisted reproduction. This was not precisely the question presented in S.H., which was complicated by the Austrian law's lopsided treatment of egg donation and sperm donation.

Nevertheless, the option to travel abroad for treatment may well embolden the Court to allow governments to discriminate against those needing third-party gametes, as some already do. Reproductive tourism played an important role both in S.H. and in the Court's recent decision that Ireland was not bound to liberalise its restrictions on abortion given the availability of abortion in other member states (6). With reproductive tourism a ready justification for restricting assisted reproduction, the ECtHR and the Convention will for the time being remain poor sources of support for a great many Europeans who would prefer to seek reproductive treatment at home.

Grand Chamber, European Court of Human Rights | 03 November 2011
Grand Chamber, European Court of Human Rights | 04 October 2007
Grand Chamber, European Court of Human Rights | 22 April 1997
Grand Chamber, European Court of Human Rights | 04 December 2007
Grand Chamber, European Court of Human Rights | 03 November 2011
Grand Chamber, European Court of Human Rights | 16 December 2010


07 September 2015 - by Antony Blackburn-Starza 
The European Court of Human Rights has ruled that Italy's prohibition on donating IVF embryos for research is not contrary to a right to private and family life....
07 January 2013 - by Antony Blackburn-Starza 
The Inter-American Court of Human Rights (IACHR) has overturned a prohibition on IVF in Costa Rica saying that it infringed provisions under the American Convention on Human Rights....
19 November 2012 - by Antony Blackburn-Starza 
A Romanian woman has argued, unsuccessfully, that a decision to relocate her stored embryos to another clinic, denying her a choice of a doctor, amounted to a breach of her private and family life with regard to her ability to have a child through IVF using those embryos...
03 September 2012 - by Rosie Beauchamp 
Italy has violated the rights of a couple carrying cystic fibrosis by preventing them from screening embryos using PGD, the European Court of Human Rights (ECtHR) has ruled. The Strasbourg-based court ordered the Italian government to pay the couple 17,500 euros in damages and expenses....

14 November 2011 - by Jessica Ware 
IVF using donated egg or sperm other than from a spouse will remain banned in Austria. This was the final decision made by the Grand Chamber of the European Court of Human Rights (the Court) on 3 November in the closing of the case SH and others v Austria....
10 April 2007 - by Dr Jess Buxton 
The UK woman fighting to use stored frozen embryos against the wishes of her former partner has lost her final appeal. Natallie Evans underwent IVF with Howard Johnston in 2001, before Ms Evans had treatment for ovarian cancer that left her infertile. Mr Johnston later withdrew...
24 April 2006 - by BioNews 
The European Court of Human Rights (ECHR) has ruled that a British man who is serving a life sentence in prison for murder does not have the right to be allowed access to IVF treatment. Thirty-four year old Kirk Dickson alleged that the UK Government had breached his right to...
07 March 2006 - by BioNews 
The European Court of Human Rights (ECHR) has issued its judgment in the case of Evans v the United Kingdom. Natallie Evans, a British woman seeking the right to be able to use her own frozen IVF embryos, asked the court last September to rule whether UK law preventing her...


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To twin or not to twin? That is the (unasked) question

23 January 2012

By Stevienna de Saille

Page URL: Appeared in BioNews 641
A recent spate of articles celebrating the birth of an IVF 'twin' five years after her brother (1, 2, 3, 4) left me perplexed. Why was this news, when embryo freezing has been in use since the mid-1980s? And as the children were not identical by what definition were they twins?

For the first question, I still have no answer. However, thinking about the second brings up a number of issues relating to the reconfiguration of kinship via assisted conception which the articles could have raised, but didn't.

The press called the children 'twins' because, like naturally-occurring fraternal twins, they were produced from the simultaneous fertilisation of two separate eggs. In this sense, twinship is based on the technological mimicry of a natural process.

However, if we consider all the fertilised embryos created from a single cycle of egg retrieval we would logically be talking about more than twins. In this case the two children become quintuplets, as the cycle produced five embryos. And what about two embryos conceived in the same Petri dish, but carried by different women? Where one couple offer their 'spare' embryos to another, would those two children be separated twins? Both scenarios lead us into areas which are deeply uncomfortable.

At the other end of the process, twins may be understood as any two children carried and delivered in a single pregnancy, regardless of the method of conception. Some do use the term 'IVF twins' to distinguish these from naturally-occurring fraternal twins (several of the articles used quotes around 'twin' as well) but this usually describes IVF children born at the same time.

The need for such distinction is interesting and suggests that on some level, IVF twins are indeed understood as different from others – as singletons twinned through gestation and simultaneously as ordinary siblings who just happen to be born together. Indeed, technology means the two children need not even be genetically related. If fertilized embryos from different donors are implanted simultaneously would they still be considered twins? Which are the twins in the Drewitt-Barlow (5, 6) family: Aspen and Orlando, split from the same original embryo, but born four years apart; or Aspen and his sister Saffron, simultaneously gestated but fathered by different men?

Thanks to the legal concept of 'intent' the act of purchasing gametes and/or the services of a gestational surrogate is enough to establish parenthood without requiring adoption. Similarly, it may be that we rely on a tacit concept of 'intent twinship', where children intended to be twins are considered so, and those gestated separately are not. This does, however, beg the question of why embryo splitting is illegal in most countries, when such a procedure – as long as both embryos are implanted at once – would mimic the natural process of twinning as closely as any other permutation discussed above. And still leaves me wondering why a routine IVF birth was considered news whether we call the children 'twins' or not?

BBC News | 04 January 2012
Guardian | 04 January 2012
Mail Online | 05 January 2012
The Sun | 04 January 2012
Guardian | 22 July 2010
Channel 4 | 21 July 2010


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Statins could treat breast cancer gene mutation

23 January 2012

By Ruth Saunders

Page URL: Appeared in BioNews 641

Mutations in a single gene could be used to identify breast cancer tumours that can be tackled with cholesterol-lowering statins, a recent study has found. Scientists identified a link between a cholesterol-building mechanism in the body and disorganised cell growth indicative of cancer.

'The data raises the possibility that we might identify subsets of patients whose tumours may respond to statins', says lead author Dr Carol Prives of Columbia University, USA. 'Of course we can't make any definitive conclusions until we know more'.

The research centres on the p53 gene, which usually suppresses the growth of cancerous cells. However, according to the study published in Cell, its mutated form, found in more than half of human cancer cells, promotes aggressive cancerous growth.

The researchers studied the growth of cancer cells in an artificial three-dimensional culture model that structurally resembled the human breast to investigate how the mutated p53 works.

Cells carrying the mutation grew in a disorganised and invasive manner, but when mutation levels were lowered, the cell cultures grew more normally.

Further studies, led by first author Dr William Freed-Pastor, found that when cells with mutated p53 were treated with cholesterol-lowering statins, they stopped their disorganised and invasive growth, and in some cases the cells died.

Analysis of patients' breast cancer tissue confirmed that a mutation in p53 and elevated cholesterol-building activity tend to go together in human tumours.

Dr Prives emphasised that there is still much more work to be done. 'It is what it is. There are great implications, but nothing clinical yet. Perhaps one could do a clinical trial, and that may support these findings, or it may be more complicated'.

Dr Joanna Owens, from charity Cancer Research UK, cautioned that the 'p53 protein is faulty in many types of cancer, but these faults can have several different effects alongside those studied in this research. These are laboratory findings and, as the researchers themselves point out, there's a long way to go to find out if they apply to patients'.

The Telegraph reports that while two other studies have suggested statins could treat cancer, they were observational and couldn't prove causality or suggest a reason for the apparent reduction in cancer.

'Gene hint' for breast cancer drugs
Press Association | 19 January 2012
Daily Express | 19 January 2012
Cell | 19 January 2012
Daily Telegraph | 19 January 2012
EurekAlert! | 19 January 2012


02 September 2013 - by Dr Victoria Burchell 
A variant of a gene involved in energy storage in muscles may be linked to problems experienced by some users of the cholesterol-lowering drugs statins...
27 February 2012 - by Luciana Strait 
A new genetic mutation linked to a greater risk of developing breast cancer has been shown to interact with the well-known breast cancer-causing gene BRCA1...


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Lifelong intelligence isn't just down to your genes

23 January 2012

By Dr Linda Wijlaars

Page URL: Appeared in BioNews 641

Researchers from Scotland have found around one-quarter of changes in intelligence observed from childhood to old age may be due to our genes. Although the researchers accept the finding is not statistically significant, it is the first to estimate the contribution of genetic variations to cognitive ageing.

'Until now, we have not had an estimate of how much genetic differences affect how intelligence changes across a lifetime', said lead author Professor Ian Deary of the University of Edinburgh's Centre for Cognitive Ageing and Cognitive Epidemiology. 'Genetic factors seem to contribute much to the stability of intelligence differences across the majority of the human lifespan'.

The study, which was published in Nature, followed almost 2,000 people from Aberdeen and the Lothian area, for over 50 years. The participants were asked to complete intelligence tests when they were 11 years old, and again when they were between 65 and 79 years old. Combining the results from these tests with DNA samples taken from the participants in their old age, the scientists conducted a genome-wide association study covering over half a million genetic markers to determine how changes in intelligence over a lifetime could be associated with genetic variation.

The results indicated that 24 percent of the differences in intelligence between childhood at the age of 11 and old age were due to genetic variations, including a variation in the APOE gene that is associated with late-onset Alzheimer's disease. The findings suggested that both genetics and the environment could contribute to an association between intelligence measured in childhood and in later life, explained the researchers.

'The results partly explain why some people's brains age better than others. We are careful to suggest that our estimates do not have conventional statistical significance, but they are nevertheless useful because such estimates have been unavailable to date', said Professor Deary.

Further studies are needed to verify the researchers' interpretation of the results. As highlighted by NHS Choices, the cohort was too small to produce statistically significant findings and the study did not look at specific lifestyle or genetic factors that may account for changes in intelligence over a lifetime.

However, the study is valuable in capturing over half a century of information on cognitive stability and change. The estimates of the genetic and environmental contributions to changes in intelligence across most of the human lifespan could now be used to guide future research.

'It is incredibly positive as it suggests that we can have a real influence on how our brain ages through our lifestyle and other external factors', Professor James Goodwin of Age UK told the Daily Mail. 'The key now is to establish which lifestyle and environmental factors are most important so that we are able to do all we can to maximise our chances of ageing well'.


30 May 2017 - by Annabel Slater 
A study of almost 80,000 people has identified 40 new genes linked to intelligence...
17 February 2014 - by Chee Hoe Low 
A gene associated with thinner grey matter, which contributes to lower intellectual ability, has been identified by scientists...
23 April 2012 - by Helen Brooks 
Two genes that influence brain size, and accordingly intelligence and possibly susceptibility to Alzheimer's disease, have been discovered by scientists...

09 January 2012 - by Sandy Starr 
The Progress Educational Trust's 2011 project Genes, Ancestry and Racial Identity: Does It Matter Where Your Genes Come From?, supported by the Wellcome Trust, sought to debate race and ancestry in the context of genetics and to explore the connection (or lack of connection) between genetics and the concept of 'race'...
15 August 2011 - by Dr Zara Mahmoud 
Educational toys, brainy baby videos and flash cards – do these things help to develop intelligence? Or are the genes that you inherited from your parents the determining factor? The search for an 'intelligence gene' has intrigued scientists for decades. Now, an international team of scientists have added weight to the argument that intelligence does have a genetic basis, but that it comes from multiple genes working together...
27 September 2010 - by Owen Clark 
Children conceived through IVF fertility treatment perform at least as well as their peers, according to a new US study....
19 April 2010 - by Maren Urner 
Children with a rare genetic disorder called Williams syndrome lack normal social fear and appear to have no racial biases, according to German and French researchers. The study is the first to report the absence of racial stereotyping in any human population, according to study co-author Professor Meyer-Lindenberg...


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£5.8m boost for mitochondrial disease research

23 January 2012

By Maria Botcharova

Page URL: Appeared in BioNews 641

An experimental genetic technique to prevent serious diseases from passing between mother and child is to receive £5.8 million funding. The Wellcome Trust is contributing £4.4 million to the new Centre for Mitochondrial Research at Newcastle University.

Currently not permitted for clinical use under UK law, the Government has announced it will seek public opinion on the procedure, and an independent report to be published by the Nuffield Council on Bioethics will consider the underlying ethical issues.

Mitochondria are the parts of a cell that generate its energy, and contain a small number of genes. Just as mutations in chromosomal DNA can be passed through families, errors in mitochondrial DNA can be inherited.

The technique is applied at the point of reproduction. If a mother has faulty mitochondrial genes, the nucleus (containing the chromosomal DNA, and so most of your genes) can be removed from her egg. This is then transferred to a healthy donor egg, which has had its own nucleus removed. This egg is fertilised using IVF just before or after this step.

In the UK, an estimated one in 250 births, and approximately 12,000 adults, are affected by mitochondrial diseases. Symptoms can be very severe, causing heart and liver failure, mental disorders and deterioration of muscle tissue.

'Scientists have made an important and potentially life-saving discovery', Minister for Universities and Science David Willetts says. 'However, as with all developments in cutting-edge science, it is vital that we to listen to the public's views before we consider any change in the law'.

The Government has tasked the Human Fertilisation and Embryology Authority (HFEA) and Sciencewise with carrying out the public consultation, which will begin later this year.

The Nuffield Council on Bioethics has asked for the public and especially those affected directly by the issue to contribute evidence. Dr Geoff Watts, who is chairing the inquiry, explains that these techniques 'involve making genetic changes that will be passed on to all subsequent generations', making it important to consider all the ethical implications.

As there are so few mitochondrial genes that produce proteins (13, compared to around 23,000 from the chromosomal DNA), the technique should have no effect on the characteristics of a child, such as appearance.

Sir Mark Walport, Director of the Wellcome Trust, compared it to changing the battery in a camera, and told the Times: 'Medical procedures that introduce a donor's biological material into the body are… long accepted. If a child with donated mitochondria can be said to have three parents, then the recipient of a heart transplant could be said to have four'.

The HFEA issued a report last year suggesting that further experiments to test safety should be carried out before the technique is made available as a treatment. Professor Doug Turnbull, director of the new centre and one of the scientists who developed the method, says: 'This new funding will enable us to take forward essential experiments'. He hopes to demonstrate that the techniques involved are both safe and effective.

Nuffield Council on Bioethics | 19 January 2012
Science News Insider | 19 January 2012
Nature News Blog | 19 January 2012
Government to seek public views on changing the law to find cures for inherited diseases
BIS/DH Press Release | 18 January 2012
Wellcome Trust | 19 January 2012
BBC | 19 January 2012


25 June 2012 - by Dr Virginia Bolton 
Predictably, the publication of the Nuffield Council on Bioethics' report supporting further research into a technique to prevent inheritance of mitochondrial disease prompted a flurry of publicity. Equally predictably, nearly every newspaper - whether broadsheet or tabloid - went for the sensationalist angle and used the 'three-parent IVF' tag in their headline...
18 June 2012 - by Dr Geoff Watts 
The Nuffield Council on Bioethics has published a new report: 'Novel techniques for the prevention of mitochondrial DNA disorders: an ethical review'. Dr Geoff Watts, chair of the working party that wrote it, offers some personal reflections on a few of its key conclusions...
12 June 2012 - by Antony Blackburn-Starza 
The Nuffield Council on Bioethics has published a review of the ethical issues raised by proposed IVF techniques, which aim to prevent the transmission of faulty mtDNA from mother to child. The report concludes the techniques are ethically permissible, provided further research establishes their safety....
28 May 2012 - by Dr Victoria Burchell 
As a promotional tool to advertise the research funded by the Wellcome Trust, this short film aims both to enthuse and to inform. In both respects it's relatively successful, combining clear and engaging explanations of two projects with smart graphics and shots of impressive-looking equipment. Unfortunately, a slow and rather confusing start may discourage some viewers from reaching the main messages, all of which are in the second half...
20 February 2012 - by Victoria Kay 
The UK's fertility watchdog, the Human Fertilisation and Embryology Authority (HFEA), has amassed cash reserves of around £3.4 million from charges to the clinics it licenses, prompting calls for the money to be given back to those seeking IVF treatment....

06 June 2011 - by Dr Marianne Kennedy 
Women at risk of passing on mitochondrial disease to their children could use PGD to give birth to an unaffected child. The scientists at Maastricht University Medical Centre in the Netherlands claim their work has the potential to prevent the transmission of mitochondrial diseases...
19 April 2010 - by Dr Calum MacKellar 
The announcement that scientists at the University of Newcastle have developed a new procedure that could eventually help women with dysfunctional mitochondria (the energy source of the cell), made headline news across the world...
19 April 2010 - by Dr Kristina Mills and Dr Marita Pohlschmidt 
Research at Newcastle University funded by the Muscular Dystrophy Campaign has shown that it might be possible to prevent mitochondrial diseases being passed from mother to child...
15 November 2009 - by Dr Rebecca Robey 
A controversial new technique to improve the quality of eggs from older women undergoing IVF is being developed by Japanese scientists. Because the procedure involves using eggs from two women to create a single viable egg for fertilisation, it has sparked a media furore over the potential creation of what have been inaccurately dubbed 'three-parent embryos'....


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Sex determination possible at five weeks after conception

23 January 2012

By Dr Rebecca Robey

Page URL: Appeared in BioNews 641

A test has been developed to determine the sex of an embryo from only five weeks old.

In the UK current tests can determine sex from 11 weeks after conception and as they are invasive, risk causing miscarriage. The new test, which was developed by scientists at the Kwan Dong University School of Medicine, Seoul, South Korea, relies on a blood sample from the mother and therefore carries no risk to the child.

The first trial, published in the FASEB Journal, used blood samples from 203 mothers between five and 12 weeks pregnant to verify the accuracy of the technique. By using the ratio of two enzymes in the women's blood – DYS14, the product of a gene found on the male-only Y chromosome, and GAPDH, found in both males and females – researchers were able to predict gender with 100 percent accuracy. In total, 99 boys and 104 girls were born.

The researchers say that the test may be useful to women who carry X-linked chromosomal abnormalities, such as the gene for haemophilia, and whose sons are therefore at high risk of having the disease. Dr Hyun Mee Ryu, the lead author, said that she thought the test 'can reduce the need for invasive procedures in pregnant women carrying an X-linked chromosomal abnormality and clarify inconclusive reading by ultrasound'.

The researchers also address the concern that their technique 'might promote the potential for sex selection. Therefore, there should be careful consideration about the use of this analytical tool in clinical situations'.

Indeed, news of the test sparked commentary from those concerned that the technique may be exploited for sex-selective terminations. In an editorial in the Canadian Medical Association Journal, interim editor Dr Rajendra Kale argues that the sex-selective terminations represent 'discrimination against women in its most extreme form'. He says that 'the solution is to postpone the disclosure of medically irrelevant information to women until after about 30 weeks of pregnancy'.

In the United States, a bill was proposed last year to outlaw abortions on the grounds of sex or racial selection. Healthcare professionals who perform or accept funding for such procedures would be prosecuted should the Act be passed by Congress.

Such laws are already in place in countries including India and South Korea where there is concern that the practice has led to an imbalance in the male-to-female ratio of live births. Critics of the proposal, however, argue that these laws are difficult to enforce and have had little impact on the gender ratio of babies born in the countries where they are in place. They also fear that such laws would reduce the availability and access of safe, legal terminations and other family planning services to women of ethnic minorities whose motives would be under greater scrutiny. Critics contend that clinics may even cease services to populations they feel are 'at risk' of such practices.

CLARIFICATION: The UK has UK Genetic Testing Network approval for non-invasive sex determination from seven weeks. This is available to women at high risk of sex-linked genetic diseases.

FASEB Journal | 30 September 2011
'It’s a girl!' - could be a death sentence
Canadian Medical Association Journal | 16 January 2012
Daily Mail | 18 January 2012
Sex selective abortions: No simple solution
CMAJ News | 17 January 2012
Eurekalert | 03 January 2012


01 August 2016 - by Lone Hørlyck 
Australian IVF clinics are calling for parents to be permitted to choose the sex of their third child if they already have two children of the same gender...
08 July 2013 - by Matthew Young 
A report produced by bioethicists from Keele University has concluded that there is no justifiable basis on which to ban IVF sex selection in the UK....
03 September 2012 - by Ayesha Ahmad 
Dr Jeffrey Steinberg, a British IVF specialist who is now director of a pair of private clinics in the USA has claimed that dozens of couples see him every year to select the sex of their babies...
09 July 2012 - by Dr Lux Fatimathas 
US researchers have for the first time sequenced the genome of a fetus using only a blood sample from the mother. It is hoped this new form of non-invasive sampling could allow doctors to screen for a range of genetic diseases prenatally, with minimal risk to the fetus...

15 August 2011 - by Rose Palmer 
A simple blood test for pregnant women can accurately predict the sex of a fetus at seven weeks, much earlier than conventional techniques, new research has found. A systematic review and meta-analysis examined the results of 57 earlier studies that included more than 6,500 pregnancies...
28 March 2011 - by Stevienna de Saille 
The use of pre-implantation genetic diagnosis (PGD) for sex selection has proven extremely controversial in the UK, where the procedure is illegal unless medically justified to avoid producing a child with a sex-linked genetic disorder, such as Duchenne muscular dystrophy. One reason often given for the restrictions is the fear that the technology will be used mainly to select male embryos...
21 February 2011 - by Antony Blackburn-Starza 
A Liverpool hospital has said it will investigate allegations that one of its doctors had apparently offered to make arrangements for an undercover reporter posing as a prospective patient to undergo a sex-selection procedure for family balancing abroad...
16 August 1999 - by BioNews 
Doctors in India have been ordered to stop providing sex determination services and participating in selective abortion of female fetuses. The Indian Medical Association has issued a warning that independent investigations will be launched against doctors suspected of participating in such practices and the Medical Council of India has made...


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Gene link to oesophageal cancer

23 January 2012

By Ayesha Jadoon

Page URL: Appeared in BioNews 641

The gene causing a skin disorder which predisposes to oesophageal cancer has been identified.

More than nine out of ten people with tylosis, which causes thickening of the skin on the palms and soles, will develop oesophageal cancer before the age of 65, but until now the reason for this was obscure.

The research, published in the American Journal of Genetics, looked at the genetic sequences of three families with a history of tylosis. Those family members diagnosed with the disease were shown to carry a faulty version of the RHBDF2 gene.

Further experiments indicated that this gene plays an important role in how cells that line the oesophagus, and cells in the skin, respond to injury. When the gene malfunctions it allows the cells to divide and grow uncontrollably, leading to cancer.

Professor David Kelsell of Queen Mary University of London, UK, who led the study, said that the discovery would help scientists and clinicians 'begin to understand which treatments might be effective and also which treatments are unlikely to help'.

Talking to Cancer Research UK, Dr Rebecca Fitzgerald, an expert in oesophageal cancer based at the Cambridge Cancer Centre, who was not involved in the research, commented: 'This study is an excellent example of how careful genetic analysis of families with rare conditions linked to cancer can lead to broader insights into a disease. We've known generally what part of the chromosome is involved in tylosis for some time, but it's taken until now to pin down the exact gene'.

Whether the RHBDF2 gene is involved in other, non-inherited forms of oesophageal forms of cancer is not yet known.

Currently, more than 8,000 people are affected by esophageal cancer a year in the UK, higher than any other European country, and the incidence is increasing. Treatment options are limited and survival rates are low at only eight percent five years after diagnosis. Oesophageal cancer is the sixth leading cause of cancer-related deaths worldwide.

Cancer Research UK | 19 January 2012
Gene role in gullet cancer studied
Press Association | 19 January 2012
EurekAlert! | 19 January 2012
Docklands and East London Advertiser | 19 January 2012
The American Journal of Human Genetics | 19 January 2012


16 January 2012 - by Dr Linda Wijlaars 
A rare gene variant that could increase the risk of prostate cancer has been identified by researchers in the USA. Although the variant accounts for only a small fraction of all prostate cancers, the study found it was more common in men with an inherited form of the cancer and in those who are diagnosed before the age of 55...
15 August 2011 - by Dr Maria Teresa Esposito 
Scientists have discovered a rare genetic fault that raises a woman's risk of developing ovarian cancer six-fold. It has been hailed as the most important discovery in the field in the last ten years, and offers hope for new treatments...
14 March 2011 - by Dr Sarah Spain 
An international collaborative team, including Cancer Research UK scientists from the University of Dundee, has uncovered the genetic cause of a rare type of skin cancer. The condition called Ferguson-Smith disease, is also known as multiple self-healing squamous epithelioma (MSSE)...
02 June 2008 - by Dr Rebecca Robey 
An international team of scientists has found that the genes that help the body break down alcohol also influence a person's risk of developing cancers of the mouth, throat and oesophagus. The study, published in the journal Nature Genetics, looked at six variants of the alcohol dehydrogenase...


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Myriad Genetics acquires patent on another breast cancer-linked gene

23 January 2012

By Ayesha Ahmad

Page URL: Appeared in BioNews 641

Myriad Genetics, a leading US molecular diagnostic company, has been granted exclusive rights to an analysis of the RAD51C gene. Mutations of the gene have been associated with an increased risk for hereditary breast and ovarian cancer and the company now hopes to develop a commercial test for RAD51C.

Mark Capone, president of Myriad, said: 'This intellectual property will enhance our ability to provide patients and health care providers important information on a patient's predisposition to hereditary breast and ovarian cancer'.

RAD51C was identified in 2010 as a susceptible gene for hereditary breast and ovarian cancer by scientists from the German Consortium for Hereditary Breast and Ovarian Cancers, which shares the patent co-exclusively with Myriad in Germany, working in collaboration with other researchers across Germany.

Myriad holds a portfolio of nine molecular diagnostic tests, including the BRACAnalysis. Last year, the US Federal Court of Appeals allowed Myriad to continue to hold patents it has acquired over tests for BRCA1 and BRCA2 gene sequences after the American Civil Liberties Union (ACLU) and Public Patent Foundation (PUBPAT) organised a claim challenging their validity.

The plaintiffs argued that isolating the BRCA1 and BRCA2 genes from the body is not creating something new - a requirement for awarding a patent - and the US Department of Justice at the time also expressed its opposition to the principle that genes should be eligible for patent protection.

Lawyers for Myriad argued the company had created something new, which was distinct from the way it is found in nature. The discovery of gene sequences are then claimed to be the intellectual property of the investigating scientist or company. The plaintiffs have reportedly filed a petition to appeal to the Supreme Court.

It is thought the majority of hereditary breast and ovarian cancers are considered to be the result of mutations in the BRCA1 or BRCA2 genes. Myriad says that studies indicate pre-symptomatic individuals who carry gene mutations are able to lower their risk of developing ovarian cancer by approximately 60 percent through preventative therapies.

But opponents to so-called gene patents argue that high fees can reduce patients' access to diagnostic tests – Myriad charges up to $3,000 for use of its BRCA1 or BRCA2 test – and prevents competitors from producing cheaper alternatives. Myriad denies that access is hindered and says the test is often part-funded by the US Government and is in most cases covered by insurance.

The Supreme Court is due to decide on whether to grant the petition to appeal early this year.

Medpage Today | 30 December 2011
Myriad Genetics Press Release | 18 January 2012
Myriad Genetics gets rights to cancer-linked gene
CBS News | 18 January 2012
Zacks | 18 January 2012


05 November 2012 - by Antony Blackburn-Starza 
A group of academics has accused Myriad Genetics, the US biotech company that holds patents over the BRCA1 and BRCA2 genetic tests for increased risk of breast cancer, of keeping secret clinical data obtained from the tests by saying the information is commercially sensitive...
01 October 2012 - by Ruth Saunders 
The American Civil Liberties Union has asked the US Supreme Court to reconsider its decision to uphold the patent held by Myriad Genetics on two human genes associated with hereditary breast and ovarian cancers...
20 August 2012 - by Dr Sarah Spain 
In the latest instalment of a highly contested case, the US Federal Circuit Court of Appeals in Washington DC upheld Myriad Genetics' right to patent two genes, BRCA1 and BRCA2,which are associated with the risk of breast and ovarian cancer....
02 April 2012 - by Dr Sarah Spain 
The US Supreme Court has ordered that the two gene patents held by Myriad Genetics be sent back to the US Court of Appeals for the Federal Circuit, to be re-examined...
26 March 2012 - by Sarah Pritchard 
A genetic test could be used to spare breast cancer patients from having to undergo postoperative chemotherapy...

19 December 2011 - by Nishat Hyder 
A patent for a diagnostic test is currently under consideration by the US Supreme Court. The eventual decision may have profound implications for the burgeoning 'personalised medicine' industry which often relies on DNA tests to guide physicians in choosing tailored therapies for patients...
14 November 2011 - by Martin Turner 
In what appears to be the end of a long running legal saga, a ruling by the UK's Supreme Court has found in favour of a patent for a gene and the protein sequence it encodes. Lawyers say that the ruling will make it easier to patent discoveries which do not have a clear demonstrated application, a result that will largely please the private bioscience industry but may alarm many who believe that human genes should not be patentable....
22 August 2011 - by Nishat Hyder 
The NHS may be at risk of being sued over patent infringement, says a new report published by the Human Genetics Commission (HGC), the UK Government's genetics advisory body...
08 November 2010 - by Dr Nadeem Shaikh 
The US Department of Justice (DOJ) has weighed in on the complex issue of gene patenting against the principle that genes should be eligible for patent protection, reversing the government's position on the matter and causing consternation for many biotechnology companies. This week it issued a legal brief as a 'friend of the court' joining a lawsuit challenging the rights of companies to patent genetic technologies....
14 June 2010 - by MacKenna Roberts 
The Australian Federal Court in Sydney is considering groundbreaking legal action of whether private companies can obtain patents on human genes....


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Two RNA studies give clues to neurodegeneration

23 January 2012

By Dr Zara Mahmoud

Page URL: Appeared in BioNews 641

Two independent studies have suggested new targets for treating neurodegenerative diseases.

Errors in a process known as splicing, where the sections of a gene that don't code for the final protein product are cut out of a 'raw' copy of DNA (known as pre-mRNA), is known to produce dysfunctional proteins. These are associated with a number of neurodegenerative diseases, including Huntington's disease.

The first study, led by Dr Susan Ackerman of the Howard Hughes Medical Institute, USA, looked at RNA sequences which are essential to this splicing process - U-snRNAs. Using mice, the team focused on U2 snRNA, which is present in multiple copies in the nucleus and highly conserved in mammals.

'These copies are identical, or nearly identical, so conventional wisdom suggested they were redundant', says Dr Ackerman. 'For the first time, we show that a mutation in one copy can lead to disease'.

This mutation, in a single copy of a U2 snRNA called Rnu2-8, was sufficient to cause mis-splicing, leading to a build-up of abnormal proteins in the cell, loss of muscle co-ordination and neuronal degeneration.

Furthermore, the group noted that more mutant U2 snRNAs were found in the cerebellum, the part of the brain responsible for balance and co-ordination, indicating that their expression, previously thought to be universal, may vary depending on cell type.

Dr Ackerman says the next step is to see if the same effects are seen in humans, but that this 'opens up a whole new way of studying these RNAs'.

A second study looked at a repetitive sequence in the RNA, known as a triplet repeat. This is a series of three RNA 'letters' – in this case CAG – which, when repeated more times than normal is associated with a variety of neurological disorders. This extended triplet repeat enables the pre-mRNA to associate with a protein, a combination that causes defective splicing of the pre-mRNA.

A small molecule that binds to the RNA structure created by this repeat sequence RNA was found to improve splicing. As lead author Professor Matthew Disney of the Scripps Research Institute, USA, explains: 'For a long time previously it was thought that only the protein translated from this type of RNA was toxic. Our discovery... demonstrates that the RNA is toxic [as well]'.

He continues: 'It also opens up new avenues for therapeutic development because we have clearly demonstrated that small molecules can reverse this type of defect'.


03 August 2015 - by Dr Victoria Burchell 
A genome-wide study of over 4000 people with Huntington's disease has identified the location several new gene variants that influence the onset of disease symptoms...
01 July 2013 - by Simon Hazelwood-Smith 
Scientists have for the first time been able to switch on and off the effects of a genetic disease, myotonic dystrophy, in human muscle tissue...
25 June 2012 - by Holly Rogers 
A single dose of an 'antisense' drug has been shown to slow, or even partially reverse, Huntington's disease in animal studies, according to a study published in Neuron....
15 May 2012 - by Dr Lux Fatimathas 
Scientists have discovered the enzyme in our cells which corrects the most frequently occurring mistake in DNA as cells divide...

05 December 2011 - by George Frodsham 
Two separate studies have successfully transplanted neurons into the brains of mice. The transplanted neurons are able to send and receive electrical impulses, and can be used to compensate for faulty brain cells, restoring normal function. Both studies sourced the transplanted neurons from embryos – mouse embryos in one case, human embryonic stem cells were used in the other...
26 September 2011 - by George Frodsham 
Researchers have identified a strong link between a genetic fault and two common neurological disorders. Two independent studies have found that the mutation is common in patients with amyotrophic lateral sclerosis (ALS) and patients with frontotemporal dementia (FTD), particularly if the disease is familial...
07 March 2011 - by Alison Cranage 
Scientists at Northwestern University, Chicago have transformed stem cells into a key type of brain cell that dies early in Alzheimer's disease. Their findings will allow scientists to study what causes the cells to die in Alzheimer's, potentially paving the way for new treatments....
05 July 2010 - by Dr Jay Stone 
Two papers published in the Lancet have suggested that the number of people in the UK suffering with Huntington’s disease (HD) may be double original figures and that patients are failing to be diagnosed due to the stigma attached to the illness...


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Book Review: Humanity 2.0 - What It Means to be Human Past, Present and Future

23 January 2012

By Dr Kimberley Bryon-Dodd

Page URL: Appeared in BioNews 641

Humanity 2.0: What It Means to be Human Past, Present and Future

By Professor Steve Fuller

Published by Palgrave Macmillan

ISBN-10: 0230233430, ISBN-13: 978-0230233430

Buy this book from Amazon UK

'Humanity 2.0: What It Means to be Human Past, Present and Future' by Professor Steve Fuller

What does it mean to be human in an increasingly technology-driven world? This is the question that Steve Fuller, a philosopher turned sociology professor, discusses in his latest book, Humanity 2.0.

I found this to be a difficult book to read, even as a scientist some of Professor Fuller's arguments went over my head, and I often felt he was trying to sell his own ideas, rather than discuss the future of humanity. Nevertheless, he did cover a number of the theological, sociological and biological concepts that have given rise to the changing nature of humanity.

He argues that we are moving away from 'humanity 1.0', which he described during a recent teleconference as a 'taken for granted normative starting point of what it is to be a human being', towards an alternative humanity: transhuman existence. This is based more on the technological than the biological. Scientific advances are enabling what once was purely science-fiction to become reality (take cybernetic limbs for example). We are spending increasingly more time interacting with computers than directly with other humans. How then will our ethics and laws alter to cope with these kinds of changes, and what impact will it have on our humanity?

Professor Fuller takes us on a historical journey discussing what it means to be human, and how what we believe makes us uniquely human will shape our futures. Theories in biological science, such as evolution, have challenged the way we see the world - moving from an intelligent design view of our existence to one in which we are shaped by the world around us.

At least in Professor Fuller's opinion, this is a bad thing: 'I believe that Darwinism poses a much greater threat than Christianity or Islam to the future of humanity as a normatively salient category…'

What then defines the boundaries that make us human? Race and religion? Or the distance between us and other animals, such as our superior intelligence and rationality? Professor Fuller says that the way we view our humanity will ultimately shape our humanity 2.0 existence.

In one 'transhuman' existence he sees us trying to preserve our consciousness by uploading it on to microchips or abandoning our carbon based bodies entirely for more durable silicon ones. This future would come with a need to change the way we define what is human and the way we regard society, as we blur the boundaries between what we regard as life and death.

Although this all sounds very science-fiction, performance enhancing drugs such as Ritalin are abused and elite athletes are always looking for new ways to enhance their abilities. Perhaps it is not too difficult to imagine that if the technology became available it would become desirable to enhance humanity - to live longer, with better memory or more durable limbs. Would the human race embrace these changes and would there be a divide between these enhanced transhumans and the original unmodified versions?

The second future that Professor Fuller proposes is one in which our value system becomes more in sync with that of animals. In this case, our morals shift so that instead of valuing human life over any other form of life, we value all life equally. Think of an eco-harmonic existence where we become one with nature.

Professor Fuller discusses how we are already enhancing the human condition and how this is being reflected in science policy, as the Converging Technologies Agenda – where all scientific fields are working together to bring about various innovations to improve quality of life. This would relieve the stress on the welfare state by allowing humans to live healthier, longer lives, and ultimately retire later. The importance of this is reflected in the amount of funding that biomedical science receives compared to the other scientific fields.

The final part of the book concerns our altered humanity 2.0 outlook on life and science. Professor Fuller argues that neo-Darwinism is holding us back from making scientific advances. Instead we need to try and understand the universe from the intelligent design view-point, rather than an evolutionary one. When we think about the world in this way he believes we will make the scientific advances necessary for humanity 2.0.

He also says that in order to progress we need to change our theology to understand evil and 'suffer smart' in the 21st century. This means that although we can't avoid suffering, we should try and cause pain to the smallest number of people as possible. He adds that our moral viewpoints on what counts as suffering will change as we become increasingly transhuman.

While the book itself makes for challenging reading, it does discuss a number of different topics surrounding our progression to transhuman, and leads you to draw your own conclusions about what humanity 2.0 actually is.

As someone with only a basic understanding of sociology (I studied it at A-level, which is now a number of years ago) there is quite a lot of ground to cover to make sense of the arguments that Professor Fuller presents. He ultimately argues for intelligent design, saying that because we have the ability to enhance ourselves and control evolution we can distance ourselves even more from all other animals and move closer to God. He continues that, because we can understand the world around us, there must have been a creator of it. It feels like a big purpose of this book is to convince the reader of intelligent design rather than just discuss the possibility of transhumanism.

In addition to reading this book, I listened to a recent teleconference given by Professor Fuller. Most of the conference was spent discussing humanity 1.0 versus humanity 2.0 and how our values will change in a 2.0 existence. One particularly intriguing question was whether individuals or communities would have to change in order to become humanity 2.0. Professor Fuller suggested that the distinction between what is the two will break down, especially in a cyber future.

For me, although I can imagine a number of medical and technological advancements improving the quality of human life in the not too distant future, a cyborg-style silicon based existence still feels very much science-fiction for now.

Buy Humanity 2.0: What It Means to be Human Past, Present and Future from Amazon UK.



31 May 2016 - by Kriss Fearon 
'Produce' is an intriguing and believable portrayal of how parents might act when faced with the chance to decide what genes to give to their future child...
08 December 2014 - by Dr Ross Cloney 
Wouldn't it be great to take charge of your evolution?...
06 October 2014 - by James Storm 
Russell Blackford's venture into heated human enhancement rhetoric feels very much like being plunged into the world of Andrew Niccol's 1997 film, Gattaca...
19 November 2012 - by George Frodsham 
Genetic mutations in thousands of genes that govern our intelligence are contributing to a 'dumbing down' of humanity, as claimed in a controversial new theory...

22 August 2011 - by Daniel Malynn 
Rise of the Planet of the Apes is this summer's big blockbuster and is directed by Rupert Wyatt. The film is a prequel to the other Planet of the Apes films and charts how the apes came to revolt. The basic storyline is thus; Dr Will Rodman (James Franco) is testing a gene therapy called ALZ-112 on chimps to find a cure for degenerative diseases like Alzheimer's...
28 March 2011 - by Professor John Galloway 
Immanuel Kant's 'Out of the crooked timber of humanity no straight thing was ever made' is probably my favourite saying. And where better to start reviewing this book? After all, what is 'eugenics', in whatever guise, but an attempt to straighten out the human race?...
21 February 2011 - by Dr Marianne Kennedy 
'There's a bar at a nightclub and a girl is deciding whether to take some guy she's met home with her. She's not intent on asking does he dance well or does he have a good sense of humour… no, no, no. She takes a little bit of his hair and she runs out the door, down the street to the local genome shop… she hands over the hair with her credit card and comes back in 15 minutes. She opens up the envelope and she says, 'Wow, he's got a genetic quotient of 99'. She goes back to the bar and says ...
14 February 2011 - by Dr Rachael Panizzo 
The creation of human life through artificial means is often portrayed as an inherently dangerous and unnatural process, where the product of any such attempt is assumed to be somehow inferior and lacking in humanity. This is a recurrent idea that looms over contemporary debate surrounding many scientific advances and technologies in biology, from reproductive cloning to embryonic stem cell (ESC) research, IVF and human genetics....
12 January 2010 - by Dr Iain Brassington 
Quite understandably, eugenics got a bad name during the 20th century; and, in many people's minds, it is still associated with programmes of mass forced sterilisation and industrial killing. On the other hand, the project of 'improving' humanity - which is what eugenics is really about - doesn't have to demand these measures...


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Book Review: Precious Babies - the author responds

23 January 2012

By Kate Brian

Page URL: Appeared in BioNews 641

Precious Babies: Pregnancy, Birth and Parenting after Infertility

By Kate Brian

Published by Piatkus Books

ISBN-10: 0749954019, ISBN-13: 978-0749954017

Buy this book from Amazon UK

'Precious Babies: Pregnancy, Birth and Parenting after Infertility' by Kate Brian

I was delighted that Rachel Pepa's review of my book Precious Babies (published in BioNews 640: Precious Babies - a donor conceived person's view) concluded that it had much to recommend it as a guide to having children after fertility problems as that's exactly what the book is intended to be. I wasn't surprised that she didn't feel it addressed her issues as a donor conceived adult because the book is not about donor conception or adults.

Precious Babies is a book for those who are pregnant or new parents after fertility problems. I appreciate that donor conceived adults don't like being referred to as 'babies', but the use of the word in the title is not 'patronising'. I use it because the book is about babies and young children.

Rachel Pepa says I was 'clearly keen to present a positive picture of life after donor conception' in my chapter on donor families. I wasn't keen to present any particular picture but rather to learn from interviews I carried out with parents, academics and leading figures in the field. This chapter is not about the rights and wrongs of using donor gametes from the perspective of a donor conceived adult; it is about pregnancy, birth and the early years from a parent's viewpoint.

The chapter includes the testimony of a father who describes with great candour his difficulty coming to terms with using donor sperm and details the ongoing issues it causes. A mother explains the fears she faced in pregnancy after using a donor egg and her worries about the lack of a genetic link weakening the maternal bond in early childhood. Many of the issues my interviewees raised had not been aired so openly before and I was keen to relay them honestly and present a clear picture of how parents feel.

The reviewer suggests that I have been disingenuous by referencing positive findings on donor families from the work of Professor Susan Golombok at Cambridge University who has carried out a substantial body of research in this area. Suggesting that Professor Golombok's findings are flawed, she points to a single American study which found that some donor conceived people had 'very bad' attitudes towards their conception. These findings are not surprising as the study recruited participants through an internet support group for adults conceived through sperm donation. The majority had only been told about their conception as adults and they had little or no knowledge of their donor.

Although Precious Babies focuses the early years, my final chapter is a postscript looking forward to the teenage years and beyond, including a snapshot view from a handful of teenagers and young adults whose parents had fertility problems. I was interested to learn whether they felt any stigma about their parents' infertility or the use of assisted conception and whether they felt this had left any mark on them. I'd originally intended to include the views of at least one donor conceived teenager or adult in this section, but had concluded that the issues were completely different and would distract from the question I was trying to address.

I can appreciate that for a donor conceived person the impact of the use of donor gametes may be central to any discussion about infertility, but just hundreds of the 3.5 million people experiencing fertility problems in the UK at any given time will use donor gametes to conceive. There are clearly issues around donor conception that Rachel Pepa would like to be able to discuss in a wider forum, but I would argue that a book for parents about pregnancy and the early years is not the place to look for coverage of the specific views and needs of donor conceived adults.

Read Rachel Pepa's review from a donor conceived person's point of view, and Jenny Dunlop's review from a counsellor's point of view, of Precious Babies: Pregnancy, Birth and Parenting after Infertility.

Buy Precious Babies: Pregnancy, Birth and Parenting after Infertility from Amazon UK.



23 March 2015 - by Professor Susan Golombok 
The spat between Dolce & Gabbana and Elton John – apart from raising the somewhat baffling question of what exactly are 'chemical' babies? – highlights the more pertinent question of what are the consequences of IVF, surrogacy and other forms of assisted reproduction for parents and children...

16 January 2012 - by Jenny Dunlop 
Kate Brian's book, a combination of personal stories and expert advice, fills a gap for many people who have conceived through fertility treatment, but realise that the physical and emotional impact continues well after the treatment has ended...
16 January 2012 - by Rachel Pepa 
As an informal guide to having children after fertility problems, Precious Babies has much to recommend it. There is, however, an omission which, as a donor conceived (DC) person, I found particularly troublesome - the book is entirely devoid of DC voices...
14 November 2011 - by Susan Kane 
I have no doubt that Elizabeth Marquardt's report reflects the feelings of the donor-conceived people that she studied. However, since true scientific study of donor-conceived people is not currently possible, her claims must be qualified....
07 November 2011 - by Elizabeth Marquardt 
In today's debates about the family a new phrase can often be heard: 'intentional parenthood'. The term appears to have originated in the 1990s to resolve disputed surrogacy or lesbian parenting family law cases...


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