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Issue 583 (08 November 2010)


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




Lesbian mums in dispute: fertility law, child maintenance and what makes a parent

08 November 2010

By Natalie Gamble

Partner at Gamble and Ghevaert LLP (

Appeared in BioNews 583
A lesbian couple who had conceived a child together through donor insemination at a UK clinic recently ended up in the High Court after their relationship broke down. Their dispute involved a ten-year-old child, and the issue was whether the non-birth mother (who the court had already given legal decision-making status as a parent) should be ordered to make financial provision for her child.

The story itself of course isn't that unusual - parents separate and divorce all the time and many end up in court arguing over contact or finances. What makes this case interesting is the family was created through fertility treatment and the partner pursued for maintenance was not the biological mother.

The court had to ask whether the lesbian non-birth mother was legally a 'parent' and - specifically - whether her full hands-on parenting involvement in her child's life was enough to make her financially responsible, even though she was not the biological mother.

The answer seems pretty straightforward from a moral perspective. The non-birth mother had been fully involved in her child's care and upbringing, had regular contact with her child, and had successfully (and not long before) applied to court for joint residence and parental responsibility. The law recognised her as a parent for the purposes of decision making and there was no legal father since the child was conceived with anonymous donor sperm.

The child would have only one parent (the birth mother) and considerably less financial security if the non-birth mother was not financially responsible. As the birth mother's lawyers argued in court, it would be 'grotesque' for the court to decide the non-birth mother should not have to maintain a child she had helped bring into the world and was actively parenting.

The law is not always fair. The rules on financial responsibility say explicitly only a legal 'parent' can be ordered to pay. These rules are more black and white than those on matters of contact and parental decision-making, where the family courts often have discretion to act in the best interests of a child.

The High Court ultimately decided it had no power to make the non-birth mother financially responsible, because she was not a biological parent nor otherwise a parent-by-law (she had not, for example, adopted the child). The courts' powers could be invoked to protect her contact and relationship with her child, but not to hold her financially responsible.

One peculiarity of the case is the non-birth mother would have full legal and financial responsibility if she was a man. Since 1991, the law has made special provision for fathers who conceive with donor sperm. They have the same rights and responsibilities as any other father, provided they are married or undergo fertility treatment with their partner. The law is designed to ensure fathers gain full status and recognition as parents, and to prevent them evading their financial responsibilities.

The same is now true for lesbian partners, but only for children conceived after April 2009. There was much fuss in 2008 when Parliament debated new legal rights for lesbian parents. Certain people said enabling a non-birth mother to be named on a birth certificate made it a statement of fiction not a record of fact, and was just political correctness. Yet this change made non-birth mothers legally and financially responsible for their children.

What this case shows is how important those legal changes are, not just for lesbian parents, but for their children. Birth certificates are not merely a record of biology, but are important documents which record legal parenthood status and responsibility. The changes to the law giving lesbian couples joint parenthood from conception benefit children, because they give them two parents who can be held legally accountable where they would previously have one.

The changes were not, however, retrospective. The children of lesbian couples conceived before April 2009 - like the child in this case - may continue to have a parent without legal status and responsibility, unless the family takes positive action to secure their legal position (which can be done through adoption).

It is a shame for this family that it took so long for the law to recognise not all parents through sperm donation are heterosexual and recent improvements only apply prospectively. Looking forwards, we should celebrate our modern fertility laws and their recognition of diverse modern families. We may be leading the world in allowing two mothers to be named on a birth certificate but, as this case shows, it ensures that children are better protected.



05 November 2012 - by Joseph Jebelli 
A man who donated his sperm to a lesbian couple 13 years ago in a private arrangement has been ordered to pay child support. He has called on the Government to make changes in the law so that private sperm donors are treated fairly....
18 June 2012 - by James Taylor 
As Britain's leading lesbian, gay and bisexual equality charity, Stonewall welcome the decision by the National Institute for Health and Clinical Excellence to update its fertility guidance to recognise recent changes in the law that will affect lesbian and bisexual women. The guidance, out to consultation, explicitly includes same-sex couples as an eligible group for fertility treatment...
09 January 2012 - by Antony Blackburn-Starza 
A Florida court has granted equal parental rights to two lesbian women who created a child using the eggs from one of the women, while the other carried the baby to term. It ruled that egg donors may acquire parental rights to children resulting from their gametes under the Florida and US Constitution....
19 December 2011 - by Ayesha Ahmad 
Lesbian parents in South Australia who conceive through IVF can now both be registered on their child's birth certificate, after a new law passed to recognise female, same-sex couples as the co-parents of babies came into effect....

21 June 2010 - by Dr Vivienne Raper 
The ex-partner of a lesbian cannot be forced to pay child maintenance for the couple's donor-conceived child because they never entered a civil partnership, a High Court judge has ruled...
30 April 2010 - by Louisa Ghevaert 
Birth certificates have been a hot topic in the UK in recent weeks. There has been much controversy, confusion and misunderstanding, aptly shown by Caroline Gammell's article in The Daily Telegraph newspaper and Colin Fernandez's article in the Daily Mail on 19 April incorrectly hailing the advent of the first lesbian couple to both be named as parents on their baby daughter's birth certificate, born 31 March this year. Lesbian couples have not in fact had to wait until the beginning of April...
29 March 2010 - by Ailsa Stevens 
New legislation allowing same-sex couples to become the legal parents of children born following surrogacy will come into force next week. The change to the law means that couples using surrogacy no longer need to be married to be named on their child's birth certificate and is intended to afford unmarried and same-sex couples using any form of assisted reproduction the same rights to legal parenthood. It forms the final stage of the implementation of the UK's Human Fertilisati...


IVF success rates plunge after second attempt, study finds

08 November 2010

By Victoria Kay

Appeared in BioNews 583

Women who have not conceived after two cycles of IVF may face reduced success rates if electing to undergo further cycles, according to a new study. The research is preliminary and many factors which may affect IVF success, such as the age and weight of the women, were not taken into account.

The study looked at 300,000 women across the United States receiving in total half a million IVF cycles over five years and found 48 percent of women had a baby after one or two cycles. However, after three cycles this number had only risen by five percent and after seven cycles stood at just 56 percent. This means that only three percent more women had successfully become pregnant after seven cycles of IVF than had done so after three.

'Don't quit if the first cycle isn't successful', said lead researcher Professor Barbara Luke from Michigan State University: '(But) if you haven't gotten pregnant by the third, the chances are slim to continue'.

In an attempt to successfully conceive, couples may incur great expense trying multiple cycles of IVF but there is currently little guidance as to the likelihood of success after the first. The findings indicated the best chance of conceiving is after the first IVF cycle, with 36 percent of women becoming pregnant at the first attempt. The success rate after the second cycle was significantly lower, with only an additional 12 percent of the total number of women in the study becoming pregnant on the second try. From the third cycle onwards the success rate dropped dramatically, with the total number of live births remaining largely unchanged.

The authors hope further investigation into factors that may affect fertility not addressed in the study may clarify success rates and aid both doctors and couples in their decision-making.

The research was presented at the American Society for Reproductive Medicine conference in Denver.

More not always better with in vitro fertilization
Associated Press | 27 October 2010
Time | 28 October 2010


13 June 2011 - by Dr Kimberley Bryon-Dodd 
US researchers have found a link between an ovarian hormone called anti-mullerian hormone (AMH) and IVF success. The findings suggest AMH testing could help clinicians tailor doses of ovary-stimulating drugs to improve women's egg production and likelihood of pregnancy...
16 May 2011 - by Dr Rosie Gilchrist 
A study of over 400,000 IVF treatment cycles in the UK has found a 'strong association' between the number of eggs retrieved prior to a woman undergoing IVF and live birth rate. The findings suggest that chances of a live birth increased with the number of eggs collected up to the number of 15, after which it began to decline....
07 March 2011 - by Leo Perfect 
Researchers from the University of Western Australia have published a study suggesting IVF effectiveness could be improved by undergoing more cycles....
15 November 2010 - by Kyrillos Georgiadis 
UK-based researchers have developed a new screening technique which could double or triple IVF success rates. The new test allows for any chromosomal abnormalities to be detected in embryos before they are implanted into the mother....

11 October 2010 - by Dr Lux Fatimathas 
US researchers have developed a means to predict which human embryos produced through IVF are most likely to result in healthy births. Researchers filmed 242 one-cell embryos and predicted, with more than 93 percent accuracy, those that would survive up to five days. These findings may improve the success rate of IVF....
20 September 2010 - by Harriet Vickers 
Women with poor egg (or oocyte) quality could double their chance of becoming pregnant through IVF if given melatonin, researchers have found. The work was presented at the World Congress of Fertility and Sterility in Munich last week...
20 September 2010 - by Gozde Zorlu 
Higher fertilisation rates have been found in women undergoing IVF in spring, according to new research presented at the World Congress of Fertility and Sterility last week...
13 September 2010 - by Dr Charlotte Maden 
British women are prepared to spend an average of 15,000 in order to conceive, a survey has shown, with one in ten willing to spend over 50,000 on fertility treatment...


IVF increases risk of cerebral palsy, study suggests

08 November 2010

By Dr Rachael Panizzo

Appeared in BioNews 583

A new study suggests factors other than a couple's underlying fertility problems may explain an increased risk of cerebral palsy seen in children born following fertility treatment. Researchers at the University of Aarhus in Denmark who conducted the study emphasised the overall risk of cerebral palsy in children conceived through IVF or ICSI (intracytoplasmic sperm injection) remains very low - approximately 0.57 percent, or one in every 176 babies born.

In a study of more than 90,000 children from the Danish National Birth Cohort, Dr Jin Liang Zhu and colleagues compared rates of cerebral palsy in children conceived naturally, after different lengths of time taken for couples to conceive, with those conceived through IVF/ICSI. The length of time taken to conceive was used as a measure of a couple's fertility - in couples that struggle to conceive within a year, one or both partners may have an underlying fertility problem.

The researchers found the rates of cerebral palsy in children conceived after more than one year of trying and children conceived within two months of trying were not different. Children born through IVF/ICSI, however, had approximately double the risk of cerebral palsy compared with children conceived within two months of trying. This finding was observed even after adjusting for factors such as the mother's age and smoking status, and after adjusting for premature or multiple births, which are known to be more common in IVF pregnancies.

The researchers concluded underlying fertility problems did not account for the increased risk of cerebral palsy associated with IVF/ICSI. Other factors that might be contributing to the increased risk are unclear, but may include the procedure itself, or complications of multiple pregnancy.

Dr Zhu said: 'Our research enabled us to examine whether untreated subfertility, measured by time to pregnancy, might be the reason for the higher risk of cerebral palsy after IVF/ICSI. Our results showed this was not the case because, even for couples that took a year or longer to conceive, there was no statistically significant increased risk'.

'It is important to stress that the risks of cerebral palsy after IVF/ICSI are low. Out of more than 90,000 children in the Danish National Birth Cohort, born between 1997 and 2003, only 165 (0.18 percent) were diagnosed with cerebral palsy. Of the 3,000 children in this cohort born after IVF/ICSI, only 17 (0.57 percent) had cerebral palsy', he said.

Another recent study of over 2.6 million children in Sweden found the risk of cerebral palsy increased in multiple birth pregnancies rather than as a result of IVF itself. The Swedish researchers suggested that the practice of only transferring one embryo back into the mother during the IVF treatment rather than two or more, which has become common in recent years, might account for the reduction in cases of cerebral palsy that has been lately observed.

Cerebral palsy is a rare disease in the UK, affecting approximately two per 1,000 live births in the general population. Although the overall risk is low, given that more than 12,000 children are born through IVF every year in the UK, the issues 'deserve further research', according to Professor Richard Fleming from the Glasgow Centre for Reproductive Medicine, to determine how to reduce the risk of cerebral palsy.

Daily Telegraph | 03 November 2010
BBC News | 03 November 2010
Human Reproduction | 02 November 2010
Medical News Today | 04 November 2010


10 August 2015 - by Dr Nicola Davis 
A Canadian study has found that as many as ten percent of cerebral palsy cases have a genetic cause...
08 May 2012 - by Dr Rebecca Hill 
The increase in birth defects in babies born after assisted conception could be partly due to underlying fertility problems, according to an Australian study...
29 November 2010 - by Kyrillos Georgiadis 
A small study has recently suggested that women who use donated eggs in IVF could be at a higher risk of developing pre-eclampsia, a common but potentially dangerous pregnancy complication....

04 October 2010 - by Ken Hanscombe 
The probability of having a male baby is affected by fertility treatments, Australian scientists have found. The national population-based study is the first to assess the impact of fertility treatments on the ratio of boys to girls born...
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....
26 July 2010 - by Victoria Kay 
Children born following IVF are more likely to develop childhood cancers than children conceived naturally, according to a new study. This risk does, however, appear to be small and may result from specific postnatal factors...


UK molecular scientist presented with prestigious Lasker Award

08 November 2010

By Matthew Smart

Appeared in BioNews 583
The Lasker Foundation has awarded UK scientist, Professor David Weatherall from Oxford University its prestigious Lasker-Koshland Award for Special Achievement in Medical Science. The award is seen as America's equivalent of the Nobel Prize for Science. Professor Weatherall's career spans over 50 years and he is recognised as a leading molecular researcher of blood disorders, and particularly thalassemia.

During his career, he was instrumental in forging links between medicine and basic science, recognising that many disorders have a molecular origin. He also played a key role in setting up long-term research partnerships with communities affected by thalassemia across the world, and his book on blood disorders is regarded as the definitive text in this field.

Thalassemia is an inherited blood disorders where the body makes fewer healthy red blood cells and less haemoglobin than normal. Individuals with this condition can have mild or severe anaemia.

Haemoglobin plays a key part in carrying oxygen from the lungs to the rest of the body, and scientists now know that this consists of four protein chains - two alpha globin and two beta globin. Six genes are needed to make enough of these chains, four for the alpha chain and two for the beta chain.

Thalassemia is divided into two main types, alpha and beta, and these relate to defects in the respective chains. People with alpha-thalassemia can have one or more missing genes, and have moderate or severe anaemia, depending on the number of missing genes. Individuals with beta-thalassemia have one or both genes altered.

When this hypothesis was proposed, scientists were unable to separate the two chains, but Professor Weatherall and his team developed a method to separate them and measure the relative rates of production of each chain. Therefore proving that the disease was caused by an imbalance in the production of each chain.

Professor Weatherall and his colleagues went on to define a number of other blood disorders, and he is also credited with describing the first gene deletion directly linked to human disease, a severe form of thalassemia where infants are stillborn because they were unable to produce the alpha chain of haemoglobin.

Professor Weatherall and his researchers also helped develop prenatal genetic screening for thalassemia, and improved treatments for children with the condition. Blood transfusions were found to control the symptoms of thalassemia, but over time, this leads to a build up of iron in the blood which can lead to heart failure when children reach their mid-teens. He and his team were able to adapt an existing technique which removed the excess iron, known as 'chelation-therapy' so that children could be treated as they slept.

Professor Weatherall has helped improve the lives of people with thalassemia throughout the world and this award is a testament to that work.

The Lancet | 30 October 2010
Lasker Foundation | 02 October 2010


14 September 2015 - by Dr Julia Hill 
The 2015 Lasker Awards are being given to three scientists who made ground-breaking discoveries in cancer and genetics, and to the organisation Doctors without Borders for its work on the Ebola crisis....
25 February 2013 - by Dr Lux Fatimathas 
Eleven scientists have each won £2 million as part of a prize to recognise the achievements of biomedical researchers, launched by entrepreneurs including Facebook's Mark Zuckerberg and Google's Sergey Brin...

13 September 2010 - by Rose Palmer 
A new technology used by Hull IVF unit to prevent clinical mix-ups when sperm and eggs are combined in the laboratory is to be rolled-out for use across the UK, and has been nominated for an award...
24 September 2001 - by BioNews 
Professors Martin Evans and Robert Edwards have both been awarded an Albert Lasker Medical Research Award, often known as the 'American Nobel Prize'. Martin Evans, of Cardiff University, was given the Basic Medical Research prize for his work into gene targeting, or the creation of 'designer mice' and other animals...
02 August 1999 - by BioNews 
Lord Robert Winston is to receive the Royal Society Michael Faraday Award for the furtherance of the public understanding of science. The award has been made in recognition of Winston's wide-ranging effort in communicating reproductive science to a large public audience through his media appearances and his numerous publications. The...


Don't tell Nick Clegg, but researchers find 'gene for liberalism'

08 November 2010

By Harriet Vickers

Appeared in BioNews 583

US researchers have claimed that having a particular gene variant and a sociable time in your teens may mean you are more likely to be politically liberal. In what is claimed to be the first link between a gene and a political viewpoint, four authors from Harvard University and the University of California, San Diego, took a sample of 2,000 people from The National Longitudinal Study of Adolescent Health and asked each participant to name five male and five female friendships made during their time at high school. The number of non-familial individuals they named was used to judge how social they were.

The participants were then asked to describe themselves as 'very conservative, 'conservative', 'middle-of-the-road', 'liberal' or 'very liberal'. The information obtained was compared with whether or not the participants possessed the 7R variant of the DRD4 gene - previously associated with novelty-seeking behaviour. The researchers theorised that the variant might be related to openness - a psychological trait that has been linked with political liberalism.

'People with the novelty-seeking gene variant would be more interested in learning about their friends' points of views', said lead author Professor James Fowler, from the University of California. 'As a consequence, people with this genetic predisposition who have a greater-than-average number of friends would be exposed to a wider variety of social norms and lifestyles, which might make them more liberal than average'.

The authors reported both environmental and genetic factors were decisive. 'It is the crucial interaction of two factors - the genetic predisposition and the environmental condition of having many friends in adolescence - that is associated with being more liberal', they said.

Some commentators have been critical. In his Scientific American blog, John Horgan writes that as yet no scientific claim which links a particular gene to a complex behavioural trait has been upheld. He also points out the timing of the paper - 'just before Election Day'. The findings were published in the Journal of Politics.

The Journal of Politics | 04 October 2010
Scientific American | 29 October 2010
Discovery News | 28 October 2010 | 27 October 2010 | 28 October 2010
Daily Mail | 29 October 2010


21 July 2014 - by Dr Lanay Griessner 
People may actively seek friendship with genetically similar individuals, a controversial study has suggested...
20 December 2010 - by Chris Chatterton 
A long-term study following 1,000 families with children born using IVF between 1994 and 2002 in the UK and US has shown the importance of parenting in the outcome of a child's behaviour...

04 October 2010 - by Chris Chatterton and Rose Palmer 
Last week researchers from Cardiff University published a study in the Lancet, where they claimed to have uncovered evidence of a genetic link to attention deficit hyperactivity disorder (ADHD)...
12 July 2010 - by Rosemary Paxman 
Geneticists claim that female mice can be turned 'lesbian' by a single gene deletion...
10 May 2010 - by Rosemary Paxman 
Our genetic make-up may influence the likelihood of running into debt, UK and US researchers have found, according to the LSE research magazine....
04 May 2010 - by Harriet Vickers 
Scientists have identified a number of genetic mutations that appear to be associated with the number of cigarettes people smoke a day, the chance of taking up smoking, and the ability of being able to quit smoking...
26 April 2010 - by Dr Tom Dickins and Sima Sandhu 
The models emerging from behavioural biology are increasingly sophisticated. They do not undermine the quest for candidate genes, but rather augment our understanding of why those genes might persist in populations and be differentially expressed across circumstances....


Epigenetic effects of stress being slowly uncovered

08 November 2010

By Chris Chatterton

Appeared in BioNews 583

New research suggests that the impact of stress may be passed on from one generation to the next, and that psychiatric illness may have some degree of 'epigenetic heritability'.

Dr Isabelle Mansuy and her team from the University of Zurich in Switzerland discovered that male mice made depressed by early stress and lack of maternal care, appeared to pass this behaviour and anxiety on to their offspring.

The researchers believe that the male mice passed down epigenetic marks on crucial brain genes and on sperm cells. Epigenetics is involved in the regulation of gene activity, controlling which genes are switched on or off, and is achieved via a process of DNA methylation. In theory, before and after fertilisation all epigenetic marks are meant to be removed in the new embryo.

Previous studies, however, have hinted that this is not always the case, and that environmental factors can lead to methylation, which is not cleared and therefore seen in later generations. The researchers claim that their study offers strong evidence of this phenomenon, with Dr Mansuy claiming that 'This provides proof that the changes in DNA methylation are heritable'.

Dr Jonathan Mill from the Institute of Psychiatry in London, however, is more cautious about the implications of the findings. He told the New Scientist that 'more research is needed'. But that: 'It can provide a bridge between what's hard-wired in our DNA and what's modifiable through the environment'.

However, epigenetic marks on genes are reversible, which means that psychiatric illness is not necessarily predetermined and that research into the epigenetics of such conditions may lead to better treatment options in the future.

The findings published in the journal Biological Psychiatry in September were presented at the American Society for Human Genetics annual meeting in Washington DC last week.

Science Daily | 01 September 2010
Biological Psychiatry | 01 September 2010
New Scientist | 03 November 2010


28 April 2014 - by Dr Victoria Burchell 
Stress in early life can alter the production of small sections of the genetic material RNA in the sperm of mice, affecting behaviour not only in the mice themselves but also in their offspring, research suggests...
30 August 2011 - by Ruth Pidsley 
Forget 'you are what you eat'. Rather 'you are what your mother ate'. That is the dramatic message of the BBC's latest episode of Horizon 'The Nine Months That Made You', broadcast on Monday 22 August. The documentary was an account of the Barker Theory that birth weight determines health in later life...
22 August 2011 - by Rosemary Paxman 
In this first episode of a new documentary series, medical correspondent Dr Mark Porter investigated how developmental events in the womb have an astonishing impact on long-term adult health...
04 July 2011 - by Ruth Pidsley 
Scientists have shown that the effects of stress can be passed from one generation to the next via chemical changes to the DNA which turn genes on or off without altering the code itself....
09 May 2011 - by Dr Kimberley Bryon-Dodd 
Women who attended a mind and body course shortly before undergoing IVF demonstrated increased pregnancy rates compared with those that did not, a US study has found. The findings suggest that stress relief may increase the likelihood of becoming pregnant from IVF....

12 March 2010 - by Sally Marlow 
Mental health is a huge global concern, with one in four people experiencing some form of mental health problem at some point in their lives. Psychiatric disorders are sometimes difficult to study, as they are diagnosed on the basis of observed behaviours...
15 February 2010 - by Charlie McDermott 
The International Human Epigenome Consortium (IHEC), launched in Paris last week, plans to map 1,000 reference epigenomes within a decade...
18 January 2010 - by Professor Marcus Pembrey 
Readers will have noticed a couple of news reports and Rosalind John's excellent commentary on this topic in the last few weeks, but I make no apology for returning to the subject so soon. I believe this area of research will spark interest from the media for years to come. This is not because I fear research will necessarily uncover some unsuspected risk to the health of people born after IVF (we can't know until we do the research) but because we are ...
09 November 2009 - by Professor Marilyn Monk 
All cells in the body have the same complement of 25000 genes, yet different cells in different specific tissues - such as nerve, muscle or gut - have different characteristics phenotype. It follows that different subpopulations of genes within cells of differing function must be active or silenced depending on requirements for function in a particular tissue. Obviously, there will be genes concerned with metabolism, growth, and cell division - the so-cal
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....


Gene linked to handedness offers clue for dyslexia

08 November 2010

By Maren Urner

Appeared in BioNews 583

Researchers from the Wellcome Trust Centre for Human Genetics at The University of Oxford have identified a genetic link between handedness and reading difficulties.

The researchers performed a genome-wide association (GWAS) analysis for a quantitative measure of relative hand skill in individuals with dyslexia and identified a region on the PCSK6 gene as the most highly associated marker. Children with dyslexia who have a particular variant of the gene were on average more skilled with their right hand compared to the left than those without the variant. The same result was also found in two additional groups of children with reading difficulties.

Professor Anthony Monaco, lead author of the study, said the results support the idea that 'there is a link between handedness and language-related disorders'. The gene studied, known as PCSK6, has not been linked to handedness before but is known to be involved in other biological functions.

Previously several genes have been linked to dyslexia but the results published by Professor Monaco and his colleagues are the first to provide molecular evidence that the well-known asymmetry between the two brain hemispheres related to handedness and dyslexia are linked. Although handedness is a heritable trait, its genetic basis is not well understood.

PCSK6 is known to influence early embryonic development. The scientists believe its genetic variants might play a role during the initial left-right patterning of the developing embryo which affects brain asymmetry and therefore handedness. Future functional studies of PCSK6 might reveal mechanisms underlying lateralisation within the brain and dyslexia. The findings were published in the journal Human Molecular Genetics.


09 May 2011 - by Rosemary Paxman 
A gene mutation thought to be responsible for the rare hereditary brain disorder Kufs disease has been identified, scientists report. The research was carried out by Dr Melanie Bahlo and her team at the Walter and Eliza Hall Institute's bioinformatics department in Parkville, Australia...
21 February 2011 - by Sujatha Jayakody 
Researchers at the University of Edinburgh have identified a gene that may help explain how language develops in children...

06 October 2008 - by Alison Cranage 
Researchers at the Wellcome Trust Centre for Human Genetics at Oxford University, UK, have identified a genetic variant that is linked to reading ability. The findings, published in the American Journal of Psychiatry, implicate a gene that could also be involved in dyslexia. Dr Silvia Paracchini, lead...
06 October 2008 - by Dr Jess Buxton 
This week, BioNews includes details of a study that has uncovered a possible genetic influence on reading ability. What exactly have the researchers found, and what does it mean for children with reading difficulties? And is it really the 'dyslexia gene', as it was called in some of the newspaper...
31 October 2005 - by BioNews 
Alterations in a gene involved in 'wiring up' the brain may cause up to 20 per cent of dyslexia cases, say US researchers. The team, based at Yale School of Medicine in Connecticut, say that mutations in the DCDC2 gene could cause the common language disorder. The scientists published their...
07 March 2005 - by BioNews 
UK researchers have identified a gene linked to dyslexia, a disorder thought to affect around three to ten per cent of the population. The team, based at the University of Cardiff, studied 223 people with the disorder. Their results, published in the American Journal of Human Genetics, show that certain...
13 September 1999 - by BioNews 
Scientists have identified the location of a gene for dyslexia, creating the possibility of screening and the early treatment of the disorder. An international team in Norway, Belgium and the US has narrowed the new gene's location to a short stretch of DNA on chromosome 2 by studying a large...


West Kent PCT suspends IVF funding

08 November 2010

By Ken Hanscombe

Appeared in BioNews 583

NHS West Kent PCT has suspended IVF treatments considered non-urgent until April 2011. The measure is aimed at avoiding a projected overspend of approximately £40m on the PCT's budget of £1.013 billion, within the first six months of the coming year.

Marion Dinwoodie, NHS West Kent's Chief Executive said: 'No-one with a compelling clinical need for treatment this year will miss out, but we are asking GPs to consider if referrals for treatment like gender reassignment or IVF can be delayed until next year'.

On the potential impact of the PCT's decision, fertility specialist Dr Michael Rimington commented: 'It will be very worrying because these couples will already have been trying for pregnancy for some time and then plucked up the courage to see their family doctor to consider assessment and referral, and then they will be told that they cannot be referred at this stage'.

As well as the decision to suspend non-urgent IVF treatments, NHS West Kent PCT has also asked GPs to defer referrals for non-urgent surgical procedures in cases of obesity and gender reassignment, and will begin prescribing a cheaper drug for age-related macular degeneration.

Chairman of the British Medical Association's consultative committee, Dr Mark Porter said: 'Our concern is that we are seeing financial matters being more important than clinical matters in the NHS'.

West Kent PCT is not the first to place restrictions on what they consider non-urgent procedures. Recently, NHS Warwickshire announced that no IVF treatments, orthopaedic surgery, and other procedures considered low priority, would go ahead without clearance from management. 'This is not about medical need, this is really about saving money', said Dr Porter.

The Guardian last month reported Nigel Edwards of the NHS Confederation as saying: 'Just shutting a service for a month or two is a one-off saving. I have had a series of discussions with four or five trusts now where they are thinking of a significant reshaping of the system'.

The NHS West Kent PCT's decision is to be reviewed in April 2011.

BBC News | 04 November 2010
Guardian | 17 October 2010


04 April 2011 - by Dr Marianne Kennedy 
Couples struggling to conceive face more disappointment as NHS North Yorkshire and York joins a growing number of trusts restricting access to IVF after it decided to suspend funding for assisted conception services, save for those who demonstrate a 'clinical exception'....
14 March 2011 - by Sujatha Jayakody 
West Cheshire will decide this month whether to become the latest region to suspend NHS-funded IVF treatment. The West Cheshire Health Consortium, which is made up of 38 GP practices, claims it needs to cut IVF to deliver healthcare to its aging population...
07 February 2011 - by Dr Marianne Kennedy 
A couple from Dorset expecting to receive two cycles of IVF on the NHS has spoke out against the trust after being told they could have access to only one....
20 December 2010 - by Kyrillos Georgiadis 
West Sussex NHS trust is the latest NHS trust to suspend funding of fertility treatment as managers try to cut spending by 50 million. Now patients across the county face months of delays for treatment...
13 December 2010 - by Dr Marianne Kennedy 
NHS Medway in Kent, South East England, has joined several other trusts in suspending funding for new referrals for IVF treatment until the new financial year when the decision will be reviewed....

01 November 2010 - by Julianna Photopoulos 
NHS North Yorkshire and York is to suspend IVF procedures in the final quarter of this financial year as part of measures to reduce costs....
06 September 2010 - by Sarah Pritchard 
Data made available under the Freedom of Information Act have revealed that in some areas of the UK, primary care trusts (PCTs) have placed a blanket ban on requests for IVF treatment because of depleted resources...
23 August 2010 - by Gozde Zorlu 
Funding of IVF treatment has been suspended by Warrington Primary Care Trust (PCT) following a review to assess whether the service matched agreed health priorities and offered the best value for money. Warrington is the only PCT in the North West, of which there are 24, to cut the funding of IVF, reports say...
09 August 2010 - by Gozde Zorlu 
Isle of Man couples wishing to undergo IVF will only have funds to complete one cycle of treatment following a review of fertility care, the Manx government has announced...


Doubts raised over US gene patents

08 November 2010

By Dr Nadeem Shaikh

Appeared in BioNews 583

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.

The American Civil Liberties Union and Public Patent Foundation recently organised a lawsuit to challenge a specific patent held by biotechnology company Myriad Genetics. The court ruled in March 2010 that patents on tests for BRCA1 and BRCA2 genes, which are both implicated in increased risk of breast and ovarian cancer in women, were invalid. Myriad's patent allows them to charge $3,000 for the use of their exclusive diagnostic technology. The company has now taken the case to the higher Court of Appeal which is yet to pass judgment. In the meantime, gene patenting in the country continues and the US Patent and Trademark Office has said it will not reject patents for genes whilst litigation is pending.

The US does not permit patents for actual genes but on genetic sequences identified by researchers, on genetic tests for those sequences, and on correlations between sequences and specific diseases like Alzheimer's. The US Patent and Trademark Office has issued 35,000 patents involving around 2,000 human genes. The government has generally supported the rights of researchers and companies to patent their research but the latest move effectively sides DOJ with the plaintiffs in this matter, say lawyers for the American Civil Liberties Union.

In the brief, lawyers from the DOJ stated: 'The chemical structure of native human genes is a product of nature, and it is no less a product of nature when that structure is 'isolated' from its natural environment than are cotton fibres that have been separated from cotton seeds or coal that has been extracted from the earth'.

The US Biotechnology Industry Organisation (BIO) is not pleased. 'If adopted, the Department of Justice's position would undermine US global leadership and investment in the life sciences', said BIO president Jim Greenwood. Hans Sauer, a lawyer working for BIO, explained: 'Gene patents are no different than patents granted to antibiotics extracted from fungus or to adrenaline purified from cow tissue'. He asked how companies are expected to recoup the costs of their research without patent protection, with development costs for a new drug costing on average $1.2 billion.

The US government says it awards patents to promote scientific progress. Without them, it says researchers might not want to pursue research for fear that others would duplicate and sell off their work without compensation. But it has tried to find a balance between granting patent protection and allowing access to genetic research. In October, a committee from the Department of Health and Human Services recommended changing federal law so that those who use genetic sequences patented by others to diagnose patients cannot be sued for patent infringement.


Wall Street Journal | 02 November 2010
New York Times | 02 November 2010
Nature: The Great Beyond | 01 November 2010
ScienceInsider | 01 November 2010
GEN | 01 November 2010
New York Times | 30 October 2010
Nature News | 02 November 2010
New Scientist | 03 November 2010


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...
23 January 2012 - by Ayesha Ahmad 
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....
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....

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....
19 April 2010 - by Harriet Vickers 
Researchers examining gene patents used in diagnostic tests say these can block competition and slow innovation, rather than spur development of new technologies for assessing the risk of genetic diseases...
06 April 2010 - by Dr Vivienne Raper 
A US judge has invalidated a genetic testing company's patents on two breast cancer genes...
15 February 2010 - by Nisha Satkunarajah 
A Californian biotechnology company has obtained the first US patent for developing a method to create stem cells from adult cells....


Singapore fertility clinic faces sperm mix-up probe

08 November 2010

By Nisha Satkunarajah

Appeared in BioNews 583

A private medical centre in Singapore is under investigation after a mix-up during IVF treatment resulted in the birth of a child conceived with the wrong sperm

The discovery was made after the couple involved were told their child's blood group, B, was not a possible outcome of the combination of their own blood types - O and A. A subsequent DNA test showed the baby carried the mother's DNA but not the believed father's.

Dr Cheng Li Chang, the medical director of Thomson Fertility Centre, which operates the clinic where the couple received treatment, said: 'We fully empathise with the couple, and are very sorry and distressed over what has happened'. He added: 'In our 22 years of operation this is the first such incident and we are taking this very seriously'.

The Ministry of Health (MOH) has begun a full investigation into the cause of the problem. Its audits have revealed there are shortcomings in the centre's current processes, including lab personnel handling more than one specimen at a time which may increase the risk of mix-ups. The MOH has instructed the centre to suspend all new assisted reproduction treatment and to stop admitting new patients. Existing patients will have the choice to continue treatment at the centre or transfer to another.

AFP | 03 November 2010
Daily Telegraph | 04 November 2010
Thomson Fertility Centre ordered to stop all new procedures
TODAY Online | 05 November 2010
Thomson Medical suspended from new assisted reproduction activities
Channel NewsAsia | 04 November 2010
Straits Times | 04 November 2010


18 August 2014 - by Antony Blackburn-Starza 
An Italian judge has ordered that two children born following an embryo mix-up at a Rome fertility clinic should reside with the birth mother and not with the twins' biological parents....
26 November 2012 - by Maria Sheppard 
New laws to clarify the legal parentage and status of children born through assisted reproductive technologies have been proposed in Singapore....

20 September 2010 - by Ben Jones 
A Canadian doctor is being sued by two of his patients who discovered their children were not genetically related to the believed donors, reports the Canadian newspaper The Globe and Mail...
13 September 2010 - by Rose Palmer 
A new technology used by Hull IVF unit to prevent clinical mix-ups when sperm and eggs are combined in the laboratory is to be rolled-out for use across the UK, and has been nominated for an award...
04 May 2010 - by Seil Collins 
The number of reported mistakes at IVF centres in England and Wales has doubled over one year, rising from 182 in 2007/08 to 334 in 2008/09. Incidents range from technical failures to serious mix-ups. Cases where embryos have been lost, implanted into the wrong patient, or fertilised with the wrong sperm have all been reported....
14 December 2009 - by Dr Vivienne Raper 
The UK's fertility industry regulator, the Human Fertilisation and Embryology Authority (HFEA), is poised to report back this week on embryo mix-ups at Guys and St Thomas' Hospital in London. According to The Sun and Independent newspapers, a HFEA licence committee was due to meet today to review the findings of an investigation into what went wrong at the hospital and how to prevent a repeat incident. The hospital came under scrutiny after the embryos of three women were destr...


Stem cell researchers cleared of fraud

08 November 2010

By Dr Jay Stone

Appeared in BioNews 583

International journal Nature has found no sign of fraud in a 2009 paper published by Professor Konrad Hochedlinger and colleagues. The allegations came from a group calling itself 'Stem Cell Watch' which has made a series of accusations of fraud against a number of leading stem cell scientists, including Professor Hochedlinger, citing repetition and the manipulation of images among its reasons for concern.

The group, whose membership remains unknown, said: 'We are continuing to point out suspicious results and duplications reported by scientists in the stem-cell field'. Nature News reports the group claims to comprise of biology students who get together to discuss papers come across in their studies. The group claimed the images in Professor Konrad Hochedlinger's paper 'looked weird' and had been subjected to digital enhancement but a subsequent investigation by Nature found no evidence to support such claims. 'The image has been evaluated by professionals and we are satisfied they are original and not unduly manipulated', the publication said in a statement. 

Commenting on the accusation, Professor Hochedlinger, who submitted the originals of the images in question to Nature, said: 'I have never received e-mails like this before and, to be honest, I find it quite upsetting'. The accusations, which were made anonymously, have caused upset in the scientific community and researchers have said such allegations should have been made in an open and transparent manner. 'I find this kind of activity unhelpful and defamatory', said Dr Douglas Melton, co-director of the Harvard Stem Cell Institute in Massachusetts.

Explaining the decision to investigate, Nature said: 'While we wouldn't encourage anonymous accusations, least of all those broadcast indiscriminately, there have been occasions where anonymous whistle-blowing has revealed fraudulent papers, so we will at least consider such accusations'.

Professor Robin Lovell-Badge at the National Institute for Medical Research, London, said he finds the incident worrying. 'Although we don't want fraudulent work to be published', he said, 'this group does not seem to have the skill or knowledge to make a fair assessment'. The International Cellular Medicine Society, which also operates a website also called 'Stem Cell Watch', has no association with the group that made the allegations.

Nature | 29 October 2010
The Great Beyond: Nature | 28 October 2010


28 May 2013 - by Richard Fadok 
A group of anonymous scientists has voiced concerns about a controversial stem cell finding published online in Cell earlier this month, causing the journal to begin an investigation...
09 January 2012 - by Oliver Timmis 
A professor of pathology and a midwife have been arrested in the US, charged with illegally supplying stem cells for unauthorised use. They are suspected of belonging to a team of at least four people who sold untested stem cell 'cures' to cancer patients and people with neurodegenerative diseases...

26 October 2009 - by Antony Blackburn-Starza 
A South Korean court has convicted disgraced stem cell scientist, Hwang Woo-Suk, of embezzling funds and purchasing human eggs for research, after a trial lasting over three years. Hwang was given a two-year sentence suspended for three years by the Seoul Central District Court last week...
01 September 2009 - by Nishat Hyder 
Disgraced scientist, Hwang Woo-suk found last Monday that he faces a possible four year jail term for alleged embezzlement, and the violation of Korean bioethics law....
04 August 2008 - by Antony Blackburn-Starza 
The South Korean Health Ministry has rejected a licence application to carry out stem cell research made by the company owned by disgraced stem cell scientist, Hwang Woo-Suk, citing 'ethical problems'. The Suam Biotech Research Foundation had requested approval last December to resume its research on human...


Event Review: Making Babies in the 21st Century - The Rise of Reproductive Technologies

08 November 2010

By Ruth Saunders and Zeynep Gürtin-Broadbent

Ruth is a BioNews volunteer. Zeynep is at the Centre for Family Research, University of Cambridge

Appeared in BioNews 583

Making Babies in the 21st Century: The Rise of Reproductive Technologies

Organised by the University of Cambridge's Centre for Gender Studies and the Guardian newspaper

Hall 2, Kings Place, 90 York Way, London N1 9AG, UK

Tuesday 2 November 2010

'Making Babies in the 21st Century: The Rise of Reproductive Technologies', organised by the University of Cambridge's Centre for Gender Studies and the Guardian newspaper, Tuesday 2 November 2010

Review by Zeynep Gürtin-Broadbent

Academics, clinicians, representatives from patient groups and other interested people came together last week to discuss the rise of reproductive technologies. The event was the first of three 'public dialogues', organised by the Cambridge University Centre for Gender Studies in association with the Guardian newspaper. The aim of this series, supported by Cambridge University Press, is to aid conversation between experts and the general public on issues of gender and 21st century biomedical advances.

The evening began with four experts answering questions posed to them by Dr Jude Browne, Director of the University of Cambridge Centre for Gender Studies. First to speak was Professor Carl Djerassi, inventor of the modern day contraceptive pill and a prolific author of what he calls 'science-in-fiction'. He painted a picture of a future in which fertile women would freeze their eggs in youth and undergo voluntary sterilisation to avoid unintended pregnancy.

Such a future would, he argued, enable women to extend their fertility and guarantee each child would be 'wanted'. Simultaneously, this would allow couples to enjoy sex without concerns about unintended pregnancy. Professor Djerassi also screened an excerpt from his play 'Taboos' to illustrate the complex impact of reproductive technologies on society, particularly when morals clash among family members.

Professor Susan Golombok from the Centre for Family Research in Cambridge said Assisted Reproductive Technologies (ARTs) have generated new family forms, including same-sex, donor-conceived and surrogacy families. They have, she said, also made it possible for a child to have up to five parents: the genetic mother and father, the gestational mother, and two social parents.

Professor Golombok argued these new family forms have challenged and changed beliefs about what matters most in parenting and child development. She concluded the quality of family relationships is most important in determining children's wellbeing, not any element of family structure like number of parents, their gender and sexual orientation or genetic relatedness.

Professor Marcia Inhorn, a medical anthropologist from Yale University, highlighted some of the bioethical and moral dilemmas raised by the globalisation of reproductive technologies. She focused on how assisted reproduction has been received in the Middle East, particularly the differences between what Sunni and Shi'ite Muslim clerics believe should be permissible.

Professor Inhorn turned her attention to the growth of 'reproductive tourism' and the challenges posed by global inequalities in access to reproductive health services. She concluded her talk by drawing links between the availability of safe and effective conception and access to abortion and infertility services. Her presentation ended with the question 'Is having a baby a global reproductive right?' and she challenged us to think what can be done to reduce inequalities.

Baroness Onora O'Neill, a philosopher and cross-bench peer, argued there was no 'human right' to reproduce, although there may be a 'positive right' to access reproductive services. 'Negative rights', such as the right not to be forced to marry or reproduce, should also have a place in discussions since they are the most seriously violated worldwide.

She said reproduction is not just about individuals, but has population-level and social consequences. A grown-up debate should see the global consequences of reproductive choices enabled by new technological advances, such as PGD for sex selection.

Once the panel had spoken, the discussion was opened to the floor by Dr Browne and the experts received an impressive selection of comments. While some questioned the extent to which reproductive technologies would gather mass appeal in the manner predicted by Professor Djerassi, others questioned the balance of positives and negatives as we enter an age of technological procreation.

Audience-member Wendy Savage, distinguished gynaecologist and champion of women's rights in childbirth and fertility, spoke of the misery caused by reproductive technologies to those who remained unsuccessful and childless. She asked whether society may regret opening this Pandora's box.

The evening was a thoroughly thought-provoking: a tour-de-force of empirical evidence, ethical debate, and most importantly enthusiastic engagement, on an emotive topic with serious and complex implications for how we think about families, relatedness and gender.

Review by Ruth Saunders

The event began with an introduction to ARTs before the panel discussion began. Carl Djerassi, Emeritus Professor at the University of Stanford, was the first panel member to speak. Professor Djerassi said ICSI (intracytoplasmic sperm injection) and his invention, the contraceptive pill, were among the foremost developments in ART.

Professor Djerassi demonstrated the relational and ethical dilemmas that can arise from the use of ARTs through a short clip of his science-in-fiction play 'Taboos'. Taboos tells the story of a lesbian woman who donates her embryos to her sister in exchange for her brother-in-law's sperm. Professor Djerassi also discussed freezing eggs as a potentially popular choice for young, career women in the future.

Next to speak was Susan Golombok, Professor of Family Research and Director of the Centre for Family Research at the University of Cambridge. Professor Golombok discussed her research, which focuses on the social, emotional and identity development of children born into gay and lesbian families, to single mothers or to families assisted by ARTs like surrogacy.

Professor Golombok discussed the risk that parents who undergo IVF and ICSI are more likely to be overprotective of their resulting children and project unrealistic expectations onto them. She also mentioned concerns about the effects of secrecy on the relationship between the parent and the child, and the child's feelings on discovering they were donor conceived.

Professor Golombok concluded from her research that children genetically unrelated to one parent or conceived with ARTs were well-adjusted and had a good relationship with parents. Although only a small minority of parents choose to tell the child they were donor conceived, Professor Golombok found children told at a younger age dealt with the news better.

Marcia Inhorn, Professor of Anthropology and International Affairs at Yale University, talked about her research in the Middle East on the social impact of infertility and ARTs, including the increased use of ARTs in countries such as Egypt, Iran, India and Lebanon.

Professor Inhorn discussed the bioethical and moral issues raised by the globalisation of ARTs, including the implications of fertility tourism and global inequalities. She found there were significant levels of cross-border reproductive care within the European Union, mostly due to the evasion of a country's laws.

There are also significant global inequalities in ART provision, Professor Inhorn said. Only 48 of the 191 member states of the World Health Organisation offer ART. Less than one percent of the projected need for ART is being met in larger countries such as China, India, Pakistan and Indonesia, and less than 15 percent in the United States. Perhaps more shocking are the reported cost inequalities, ranging from $12,400 for IVF in the United States to $1,360 in Iran.

Finally Baroness Onora O'Neill, Professor of Philosophy at the University of Cambridge, criticised the notion of the right to have a child, saying there is no convincing legal and ethical evidence of this. She argued a rights discourse does not take the resulting child's needs seriously as a person with their own needs, wishes and desires. Instead of viewing a child as a right, it should be regarded as a gift.

Although a thought-provoking and insightful evening, I was slightly disappointed that the event was advertised as covering more issues than it did. The speakers engaged little with the gender-specific issues surrounding the rapid development of ARTs or the ethical issues that could be raised by future ARTs, such as uterine transplant.

University of Cambridge Centre for Gender Studies | 02 November 2010
Guardian | 05 November 2010


12 November 2012 - by Cait McDonagh 
Reading the back cover blurb, I was looking forward to an eye-opening adventure, discovering the ways in which societies have long been fascinated with creating a child by unconventional means. The book also promised to show how this might be possible in the future and I wasn’t disappointed...
15 November 2010 - by Zeynep Gürtin-Broadbent 
The Progress Educational Trust's conference next week will tackle the subject of Cross-border Reproductive Care (CBRC), with a range of UK experts coming together to present the evidence and argue over the ethical conundrums. Although the contested term 'reproductive tourism' has firmly entered public vernacular through the popular media, as yet little is known about this rapidly growing phenomenon...


Radio Review: Frontiers - Cancer Treatment

08 November 2010

By Professor Sandy Raeburn

Professor Emeritus, University of Nottingham

Appeared in BioNews 583

Frontiers: Cancer Treatment

BBC Radio 4, Wednesday 3 November 2010

'Frontiers: Cancer Treatment', BBC Radio 4, Wednesday 17 March 2010

About 15 years ago, I formed the view we should be less ambitious about improving 'Public Understanding of Science' because we should not expect the public to understand genetic principles in detail. Better, I thought, to give a grounding in core science skills. Then people could build on this basic knowledge while coming to terms with what had happened if they were diagnosed with cancer or inherited disease, or gave birth to a baby with a congenital abnormality.

The BBC 'Frontiers' programmes on Radio Four are excellent examples of informing the wider public. Topics covered in the last 18 months have ranged from synthetic biology to graphene and from stem cells to future vaccines. This week's programme, the first in a new series, tackled a new approach to the management of disseminated malignant melanoma. As many recent radio and TV programmes have done, the encouraging results were attributed to knowledge gained from sequencing the human genome.

The programme concentrated on PLX4032, a new treatment for metastatic melanoma. This synthetic agent was designed using a different strategy from the selective cell killing approaches of conventional chemotherapies. PLX4032 development was an excellent example of logical thought and clear insights, founded on accurate, reproducible observations. Frontiers explained how this was done.

About eight years ago, a UK team discovered that a gene, BRAF, was mutated in tumour tissue of about 70% of melanomas and in lesser proportions of other cancers. The melanoma finding was soon confirmed; it transpired that the BRAF gene was mutated in as many as 81% of melanomas.

The previous best treatment for disseminated melanoma was dacarbazine, a powerful cell-toxic drug, which prolongs survival in up to 20% of affected people. Being toxic to all growing cells, dacarbazine leads to the whole gamut of dangerous side effects. In contrast, PLX4032 has fewer side effects because it targets the BRAF changes in melanoma cells not present in normal ones. Early trials indicate patients who benefited from PLX4032 showed a response within a week.

Professor Mike Stratton, joint head of the Cancer Genome Project, explained how BRAF mutations led to unrestrained growth of melanoma cells. These mutations duped tumour cells into keeping on growing; the BRAF gene function was stuck in the 'on' position. PLX4032 targeted only cells with that mutation, causing cell death in BRAF positive ones. We heard from a patient whose intrathoracic melanoma was 7cm in diameter; the tumour shrank within a few weeks. We also heard that PLX4032 is effective when administered orally.

There are limitations, of course. There are many examples of drug resistance in cancer therapy and one problem is the possibility that clones of melanoma cells without the BRAF mutation might develop during PLX4032 treatment. The vacuum created by the demise of BRAF positive cells might therefore enhance growth of resistant ones. Despite this caveat, however, the researchers were unanimous this was a 'foot in the door' towards effective cancer treatment; one clinical researcher felt we were 'halfway there'.

Frontiers included musings on whether this was a 'penicillin moment': a drug as effective as the first use of penicillin against staphylococcal infection in 1941. I hoped not because that treatment ran out after five days and the patient relapsed. One researcher felt it was more an 'AZT moment': that drug slowed the progression of HIV disease by inhibition of HIV virus replication. PLX4032 is analogous to AZT because it slows disease progression by inhibiting replication of BRAF positive melanoma cells.

I think we need to pass to members of the public a sense of proportion about the human genome. They should know treatments will only be successful when therapy is targeted to abnormal cells and when a gene's action causes progress of a disease. We have about 27,000 genes and within each there is the possibility of hundreds of pathogenic mutations. I'd like to call this excellent Frontiers programme a 'PLX4032 moment' - when the public received balanced, accurate genetic information.

BBC Radio 4 | 08 November 2010


05 September 2011 - by Dr Maria Teresa Esposito 
A virus that damages tumours while sparing normal healthy tissue has passed a preliminary test. JX-594, an engineered version of smallpox virus, prevented or reduced further tumour growth in 13 of 23 patients four to ten weeks after they were treated...
08 August 2011 - by Dr Kimberley Bryon-Dodd 
The NHS is 'unprepared' to deal with personalised medicine in the clinic, according to Sir John Bell - the UK Government's chief genetics advisor - during an interview with the Times. His comments come as a four-year-old girl last week became Britain's first person to have a rare genetic disease identified through DNA sequencing...
13 December 2010 - by Professor Sandy Raeburn 
This Frontiers programme challenged three genetic dogmas. The presenter quoted a recent Observer headline on epigenetics: 'Why everything we were told about evolution was wrong!'...



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