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Issue 578 (04 October 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.

Visit the BioNews website at www.bionews.org.uk where you can subscribe for free to receive BioNews by email in one of three formats, and search the archive of more than 6,000 articles.

 

 

CONTENTS

Comment

News Digest

Reviews

 


 

The challenge of genetics and consanguinity for General Practice

04 October 2010

By Dr Rizwan Alidina and Dr Mohamed Walji

Balsall Heath Health Centre, Birmingham

Appeared in BioNews 578
A Dispatches programme on rare genetic conditions and cousin marriage aired a few weeks ago ignited much debate. Many people commenting on the programme were correct to say consanguinity alone isn't the issue.

Other factors, such as marriages within small communities and mutations supported by selection pressure could also influence the high prevalence of such rare mutations. However, the high rate of autosomal recessive disorders in some communities remains an important issue, regardless of its intricate and complex causes. This needs to be addressed, preferably with input from general practitioners.

Although autosomal recessive disorders are caused by inheriting a copy of a faulty gene from each parent, the risk of this occurring is higher in communities where consanguinity is common. The prevalence of consanguinity in some ethnic communities is 50-70 percent over several generations, which - in itself - significantly increases risk.

During pregnancy, fetuses are screened for several factors affecting wellbeing, such as maternal age, social deprivation, rubella and nutrition - particularly folate deficiencies to prevent neural tube defects. Each of these has an associated campaign with opportunities for screening or intervention.

But there are no similar campaigns offered for genetic conditions, apart from sickle cell and Thalassaemia screening. In general, there are few interventions designed to reduce autosomal genetic illness by increasing genetic literacy and improving informed reproductive choice. Besides, ten weeks into a pregnancy is not the time to counsel a future parent about their genetic risk.

Counselling should be undertaken early and in a sensitive and non-judgemental manner by healthcare professionals familiar with the patients, their families and their community.

Silent unaffected carriers have the least support. Affected patients and their families are often seen and counselled by various healthcare professionals, including clinical geneticists. But, for each affected patient, there are a multitude of carriers who often don't have the same support to make informed reproductive choices.

We have to concentrate on these patients in primary care and no one is better positioned to help than the carrier's GP who has an intricate understanding of the family and the dynamics of the patient's community.

Practice genetics registers, such as those for chronic diseases, could be useful for identifying families at risk. This would allow referral of families to the local clinical genetics department where they could be cascade tested to identify other carriers. These carriers can be counselled for genetic risk when appropriate, perhaps pre-martially or pre-conceptually.

The time for action is now. GPs need to improve their genetic literacy so they can get involved in discussing the increase in risk seen in those communities where consanguinity is common. They should become more aware of the risks in their communities and familiarise themselves with resources available to them to tackle them.

Discussions about genetic risk must be done in a non-judgemental and non-political manner to ensure attempts to link this issue with religion, culture and politics does not interfere with the delivery of key, but simple, genetic education and the encouragement of informed reproductive choices among at-risk families and communities.

SOURCES & REFERENCES

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

17 September 2012 - by Professor Sandy Raeburn 
This monograph is desperately needed. Western societies, who often chose consanguineous marriage in the past, have grown to fear it and to denigrate communities where it is commonly practiced...
13 December 2010 - by Seil Collins 
A genetic testing service to identify people with Familial Hypercholesterolaemia (FH) is being rolled out across Wales. The service follows two successful FH testing pilots - one in England and one in Wales...
11 October 2010 - by Sarah Pritchard 
A three-year genetics project has been launched in Birmingham to help tackle the city's high infant mortality rate by raising awareness of inherited genetic disorders...

06 September 2010 - by Anshu Rastogi 
'When Cousins Marry' (Dispatches) was a difficult film to make. It was painful at times but immensely rewarding in the end. The film was commissioned because it highlighted a potentially avoidable cause of serious disabilities in hundreds of British children each year...
31 August 2010 - by Professor Sandy Raeburn 
Why am I criticising a campaign to reduce the incidence of severe autosomal recessive diseases? After all, I spent five years of my 40-year clinical career in medical genetics living in Oman - a Muslim country where over 50 per cent of marriages are consanguineous? Let's dig deeper!...
10 May 2010 - by Victoria Kay 
Charles Darwin's concerns that his children's ill health was due to his cousin marriage were justified, according to a new study. The UK-Spanish study, which analysed four generations of Darwin's family, provides statistical evidence of a link between ill health and the degree of inbreeding in his and his wife's families....


 

Why we shouldn't abolish the HFEA

04 October 2010

By John Parsons and Michael Savvas

John Parsons is an Honorary Consultant Gynaecologist at King’s College Hospital and Michael Sawas is a Consultant Gynaecologist / Person Responsible at the Assisted Conception Unit, King’s College Hospital

Appeared in BioNews 578
The Government is considering dismembering the Human Fertilisation and Embryology Authority (HFEA) and dividing its responsibilities between the Care Quality Commission, a proposed new research regulator and possibly an expanded Health and Social Care Information Centre (1). They admit this will be complicated and plan to effect the changes during the next five years, before the end of the current parliament. We believe that, although the HFEA is not perfect, such changes would be a retrograde step and should be resisted.

Following the passage of the Human Fertilisation and Embryology Bill 1990, the HFEA was set up to: license and monitor clinics carrying out IVF and donor insemination, and establishments undertaking human embryo research; maintain a register of licences held by clinics, research establishments and storage centres; and regulate storage of gametes (eggs and sperms) and embryos. The HFEA also has a duty to provide impartial and authoritative information to patients.

The Government argues [1] the licensing function of the HFEA could be moved to the proposed new research regulator and this would weaken the argument for a special fertility sector regulator. Parliament has discussed regulating fertility treatments and embryo research in detail several times since the late 1980s. On each of these occasions, they agreed human embryos have a unique status and their use for treatment and research requires special oversight.

Some say IVF treatment has become so common that its regulation should be normalised. Although public opinion has moved, there are still powerful forces wishing to stop or limit the use of assisted conception. Pope Benedict XVI said in June 2006: 'the human being has the right to be generated, not produced, to come to life, not in virtue of an artificial process, but of a human act in the full sense of the term: the union between a man and a woman'.

There is a real danger important research would be frustrated by people with similar views to Pope Benedict should the responsibility for ethical review move from the supportive environment fostered by the HFEA. We believe researchers who wish to see the HFEA broken up hope the licensing process will reduce under the aegis of a new regulator. Not only is this unlikely but, when these researchers must deal with a broader range of opinions about whether their research should be done, they are likely to regret the loss of a specialist regulator.

The HFEA plays an important role in actively improving standards by, for example, being responsible for several consultations on issues of best practice. Reducing multiple pregnancies by limiting the number of embryos transferred has been, and remains, an important part of its work. Many treatments regulated by the HFEA are funded by patients, not the NHS, and self-funding patients are attracted to clinics with good results. Would the Care Quality Commission take on the important role of ensuring clinics' results are not achieved regardless of the perinatal mortality associated with multiple pregnancy?

The HFEA acts as a focus for interactions between doctors, nurses and scientists. These interactions could take place within the British Fertility Society (BFS), but all the disciplines have vested interests. 'Trade' organisations such as the Royal College of Obstetricians and Gynaecologists, the Royal College of Nursing, the Association of Clinical Embryologists and the BFS do not have the same impartial image enjoyed by the HFEA.

Patients may also be involved and have their interests protected if interactions between these disciplines take place with the regulator. The public has learned to trust the HFEA, which acts as a bulwark between the sensational headlines in the less responsible press and those working in the field. Who would take on that role if the HFEA is abolished?

The HFEA collates results and other data from clinics providing assisted conception services. These data allow patients to compare clinics where they might go for treatment and make decisions based on reliable information. Would the Health and Social Care Information Centre, who will have responsibility for all health and social care data, prepare this information as comprehensively?

The HFEA is not perfect, at times the organisation seems over bureaucratic, but it seems to us that the HFEA plays a valuable role greater than the sum of its statutory obligations. Far better to prune it than uproot it.

SOURCES & REFERENCES
Department of Health | 26 July 2009
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

19 December 2011 - by Sandy Starr 
The Public Bodies Bill - which empowers the UK Government to transfer the functions of the Human Fertilisation and Embryology Authority (HFEA), the country's regulator of fertility treatment and embryo research - has received Royal Assent and has become the Public Bodies Act. This Act represents the realisation in statute of the Coalition Government's longstanding plans for a 'bonfire of the quangos'...
21 February 2011 - by Damian Adams and Dr Marilyn Crawshaw 
By one of those strange coincidences, Australia has just completed its review of donor conception services while the UK is just embarking on one. While many of the areas that they look at are similar, there is much to ponder about their very different ways of approaching it. The Australian Inquiry was conducted at federal level while in the UK the regulatory body, the Human Fertilisation and Embryology Authority (HFEA)is involved...
21 February 2011 - by Chris Chatterton 
The British Fertility Society (BFS), an organisation representing professionals with an interest in reproductive medicine, has announced that it will be sending a questionnaire to all its members concerning the imminent demise of the HFEA (Human Fertilisation and Embryology Authority)....
06 December 2010 - by Ben Jones 
Lord Rees, outgoing President of the Royal Society, has raised concerns over the abolition of the Human Fertilisation and Embryology Authority (HFEA) saying that it may affect the Government's ability to make well informed policy decisions...
18 October 2010 - by Matthew Smart 
Former members of the Human Fertilisation and Embryology Authority (HFEA) have spoken against proposals to axe the UK’s fertility watchdog...

24 September 2010 - by Dr Vivienne Raper 
The UK's fertility regulator is on a Government 'hit list' of quangos facing abolition, according to a letter leaked this week. The letter, dated 26 August, supposedly from Cabinet Office Minister Francis Maude to other ministers lists the Human Fertilisation and Embryology Authority (HFEA) among 177 quangos due to be axed...
06 September 2010 - by Josephine Quintavalle 
The inaugural meeting of CORE in 1994 was entitled, 'Human Reproduction - Who Decides?' and the key speech was by an ex-HFEA (Human Fertilisation and Embryology Authority) committee member, Professor Robert Snowden. Focus was specifically on assisted reproduction and the controversial issue of whether or not human embryos should...
23 August 2010 - by Professor Eric Blyth, Dr Marilyn Crawshaw, Dr Lucy Frith, Dr Caroline Jones and Dr Jennifer Speirs 
The UK government's review of Arm's Length Bodies (ALB) in the National Health Service has indicated that the Human Fertilisation and Embryology Authority (HFEA) has had its day as a free-standing regulatory body...


 

Stem cell doctor struck off by GMC

04 October 2010

By Antony Blackburn-Starza

Appeared in BioNews 578

A doctor has been struck off by the General Medical Council (GMC) for exploiting vulnerable patients by administering 'pointless' and 'unjustified' stem cell treatments.

Dr Robert Trossel, a Dutch-trained doctor registered with the GMC, practised from clinics in London and Rotterdam. At his Rotterdam clinic he saw patients from the UK affected by multiple sclerosis (MS), offering treatments at times costing in excess of £10,000.

Last April, the GMC ruled that Dr Trossel had offered patients treatments using stem cells unfit for human use. It heard how Dr Trossel had entered into a licensing agreement with a firm which later became Advanced Cell Therapeutics (ACT), to provide stem cell treatments. ACT's South African owners were then investigated by the US Food and Drugs Administration (FDA) and Federal Bureau of Investigation for stem cell fraud and are still undergoing extradition proceedings. A BBC Newsnight investigation revealed how cells used by Dr Trossel were acquired by ACT from a US firm which were only intended for use in research and not in humans.

Yesterday's panel considered the issue of misconduct and Dr Trossel's fitness to practice, ruling that he had breached good practice guidelines by exaggerating the benefits of treatment, success rates and had exploited his patients. In the hearings, the GMC was told how despite not having a background in neurology or haematology, nor being an expert in stem cells, Dr Trossel had given patients stem cell injections.

Chairman of the fitness to practice panel, Professor Brian Gomes da Costa, told Dr Trossel that by offering 'unsubstantiated and exaggerated' claims he had 'abused [his] position of trust'. 'Your conduct has unquestionably done lasting harm, if not physically, then mentally and financially, to these patients and also to their families and supporters', he said.

Dr Trossel admitted he been 'too enthusiastic' and said he had stopped offering using stem cell injections upon learning about the nature of the cells used. 'I would like to take the opportunity to say how sorry I am for any distress caused to my patients during this time', he said after the ruling. 'During my career as a doctor, I have always practised with the objective of achieving the very best for my patients'. Although the panel said there was little evidence to suggest the treatments alleviated the symptoms of MS, it ruled Dr Trossel did believe in his claims and had not acted dishonestly.

The cost of the treatments has not been refunded, the GMC heard, with many of the patients having raised money through family or fund-raising events. Dr Trossel now faces the prospect of legal action from his patients seeking compensation. 'We are actively investigating the pursuit of legal proceedings against him to right the wrongs caused to these vulnerable people', said Jill Paterson, a solicitor at law firm Leigh Day & Co.

SOURCES & REFERENCES
BBC Newsnight | 29 September 2010
 
Daily Mail | 30 September 2010
 
MS doctor 'could face legal claims'
Press Association | 29 September 2010
 
BBC News | 29 September 2010
 
The Telegraph | 29 September 2010
 
The Telegraph | 30 September 2010
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

07 January 2013 - by Dr Linda Wijlaars 
Bone fragments were removed from the eyelid of a woman after a facelift that used her own stem cells yielded some unexpected results...
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...
12 September 2011 - by Rosie Beauchamp 
An Australian company has announced it has received regulatory approval from the European Medicines Agency (EMA) to begin phase II trials for its cardiovascular stem cell treatment, Revascor....

19 April 2010 - by Antony Blackburn-Starza 
The UK's General Medical Council (GMC) has ruled that a UK-registered doctor has exploited a number of vulnerable patients who have multiple sclerosis, offering unproven treatments using stem cells not suitable for human use....
15 February 2010 - by Antony Blackburn-Starza 
The UK's General Medical Council (GMC) is hearing evidence of a Dutch clinic that supplied stem cell therapies to British patients alleged to be not 'intended for human use'....
10 January 2010 - by Dr Vivienne Raper 
Scientist and patient groups want more safeguards to prevent clinics in the UK from offering unproven stem cell treatments, according to the Guardian newspaper. The calls come as a Harley Street doctor - Robert Trossel - comes before the General Medical Council (GMC) accused of misconduct, the newspaper reports. According to the Guardian, the upcoming GMC hearing will consider allegations that he offered, and made false claims about, stem cell therapy. Dr Trossel is accused of ...


 

A tall story: genetic factors in height determination

04 October 2010

By Julianna Photopoulos

Appeared in BioNews 578

Scientists have identified hundreds of common gene variants that may be associated with height, according to research published in the journal Nature.

An international study involving 183,727 individuals from the US, Canada, Europe and Australia, linked 180 different locations in their DNA to height development. These areas are associated with gene  affecting skeletal growth, bone density, as well as obesity.

Dr Joel Hirschhorn from Harvard Medical School, lead author of the study, said: 'This paper is the biggest step forward to date in understanding which of the genetic variants that differ between people account for our differences in height'.

Co-author, Dr Mike Weedon from Peninsula Medical School in Exeter, UK added: 'We have found clues to how genes related to growth are being regulated by nearby genetic variants as well as identifying new candidates that may play a role in growth'.

Scientists used genome -wide association studies, which are designed to scan millions of sites on large numbers of genomes to identify areas containing common variations that may be associated with a characteristic or disease.

Many of the gene variants were near genes already known to be associated with skeletal growth syndromes. Other areas found had no known relation to height, suggesting new targets for studying the biology of height.

About 80 percent of variation in height is determined by genetic factors, but the differences between tall and short people are not caused by single, simple differences between genes. The newly identified variants account for only about 10 percent of the variation in people's height.

Study author Professor Timothy Frayling from the University of Exeter, UK, said: 'Genome-wide association studies are very powerful tools, but even so, we are still some way short of understanding the full details of how differences in our genomes influence common human traits such as height'.

'Complex traits such as height are proving even more complex than we had first thought. We will need even more powerful tools and different approaches if we are to understand fully the differences between individuals'.

The research is a scientific collaboration between more than 200 institutions around the world that form the GIANT (Genetic Investigation of Anthropometric Traits) Consortium.

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

07 June 2010 - by Dr Iain Brassington 
To what extent is it permissible for people to choose for or against certain desired characteristics in their future children? There's a range of ways in which we might do this - for example, we might attempt to insert or delete a particular gene into or from a gamete prior to conception, or we might choose embryo C from the petri-dish over embryos A, B and D...


 

ADHD genetics is a complex issue, say experts

04 October 2010

By Chris Chatterton and Rose Palmer

Appeared in BioNews 578

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), and suggested that this proved that the condition was 'not purely a social construct'.

ADHD is described as a neurodevelopmental disorder, characterised by hyperactivity (an unusually or agitated state of mind) and difficulty in paying or sustaining attention, which is estimated to affect at least two per cent of children.

The researchers conducted a genome-wide association study (GWAS) and compared the DNA of 366 children with ADHD with a control group of 1156 individuals.

They were particularly interested in looking for CNVs (copy number variants), which are rare chromosomal deletions and duplications, because these have previously been linked to other disorders such as schizophrenia and autism.

They identified 57 large rare CNVs amongst the 366 children with ADHD and 78 amongst the 1156 individuals in the control group, which showed that these CNVs were significantly more common in individuals with ADHD.

The study also found that the rate was high amongst those individuals with intellectual disability, but that the level was also significant in those with no such disability.

These findings offer clues to the probable genetic underpinnings of ADHD, but the current study is not able to give scientists any definitive answers as to their exact role in the disorder and should be greeted with interest, but not as indicative of causation.

Unfortunately, this research was reported by many media sources as proving that ADHD was fundamentally a 'genetic condition'.

This sparked a much wider debate as to the origins of ADHD, and the extent to which the condition is a result of nature or nurture, and whether parents should be blamed for their child's behaviour.

Experts on both sides of the debate greeted the press coverage and original paper with excitement.

Professor Anita Thapar, an expert in child and adolescent psychiatry, said: 'This is really exciting because it gives us the first direct genetic link to ADHD'. She added: 'Now we can say with confidence that ADHD is a genetic disease and that the brains of children with this condition develop differently to those of other children.

'We hope that these findings will help overcome the stigma associated with ADHD. Too often, people dismiss ADHD as being down to bad parenting or poor diet.'

However, other experts remain unconvinced. Dr Tim Kendall, a consultant psychiatrist and expert on ADHD, said labelling the disorder as biological could encourage physicians to treat the disorder with a biological answer.

'I am saying it's a mixture of genetic and environmental factors, and the important thing is that we don't end up thinking this is a biological problem which is only subject to biological treatments like Ritalin'.

Oliver James, the psychologist and author, also attacked the researchers for putting 'massive spin' on their findings, pointing out that only 57 of the 366 children with ADHD in the study had the gene variant supposed to cause the disorder.

The challenge for scientists in the future is to untangle the interaction between genes and the environment in order to develop more effective treatments for the disorder.

SOURCES & REFERENCES
The Telegraph | 30 September 2010
 
BBC News | 30 September 2010
 
New Scientist | 30 September 2010
 
The Lancet | 30 September 2010
 
BBC | 30 September 2010
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

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...
03 May 2011 - by Dr Tamara Hirsch 
Korean scientists have uncovered another gene, GIT1, linked to Attention Deficit Hyperactivity Disorder (ADHD). The study published in Nature Medicine lends further support to a genetic basis for this behavioural condition, which is sometimes attributed to poor parenting....
14 February 2011 - by Dr Lux Fatimathas 
US researchers have found a correlation between levels of the brain chemical neuropeptide Y (NPY) and an individual's emotional wellbeing. Mutations in the NPY gene, leading to decreased levels of the molecule, correlated with a decreased ability to deal with stressful situations and an increased susceptibility to depression....
24 January 2011 - by Victoria Kay 
Our choice of friends may be influenced by our genes, a controversial new study claims....
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...

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....
22 March 2010 - by Dr Charlotte Maden 
New research into diagnostic genetic tests for autism spectrum disorders (ASDs) has revealed the effectiveness of a new test that is currently not used in the first line of diagnosis. The findings were published online last week in the journal Paediatrics....
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...


 

Researchers uncover genetic clues to migraine

04 October 2010

By Dr Lux Fatimathas

Appeared in BioNews 578

International researchers have identified a genetic mutation found in some migraine sufferers, which may be responsible for increased pain sensitivity in the brain and a higher likelihood of a migraine being triggered. The finding could allow new treatments to be developed that target the pain associated with migraines.

'It is a once in a generation find that could one day lead to treatments that could prevent migraines', said Dr Zameel Cader, consultant neurologist at the Medical Research Council Functional Genomics Unit at the University of Oxford, who was involved in the study. 'It could potentially lead to a treatment for pain in general. That could impact everybody'.

The researchers screened the DNA of 110 individuals known to experience migraines, and their families. A mutation was found in the TRESK gene, which regulates the sensitivity of a subset of pain nerves in the brain. This mutations resulted in defective TRESK, which caused an increase in the sensitivity of these pain nerves. The authors of the study suggest the findings may explain why members of the same family suffer from migraines, which are believed can be hereditary.

'What we've found is that migraines seem to depend on how excitable our nerves are in specific parts of the brain', said Dr Cader. 'Finding the key player which controls this excitability will give us a real opportunity to find a new way to fight migraines and improve the quality of life for those suffering'.

Migraines can last up to three days and often result in increased sensitivity to sound, touch and light. Approximately 18 percent of women and eight percent of men in the UK suffer from migraines - a condition the World Health Organisation considers among the leading global causes of disability. The study was published in the journal Nature Medicine.

SOURCES & REFERENCES
Nature Medicine | 26 September 2010
 
BBC News | 27 September 2010
 
The Telegraph | 26 October 2010
 
Scientists find migraine link gene
Press Association | 27 September 2010
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

28 June 2013 - by Dr Amina Aitsi-Selmi 
Five genetic regions not previously associated with migraine have been linked to the condition, according to an international group of researchers...
07 May 2013 - by Cristy Gelling 
Genetic mutations that cause an inherited sleep disorder also appear to be linked to migraine, scientists have found...
14 January 2013 - by Dr Lux Fatimathas 
Scientists find those with epilepsy who have a strong family history of the disorder are also more likely to have migraines...
20 June 2011 - by Chris Chatterton 
Scientists have carried out a large genome-wide association study (GWAS) looking into SNPs (single nucleotide polymorphisms) potentially associated with migraine and have discovered three new genes that may be associated with the condition...

04 August 2008 - by Stuart Scott 
A gene variant previously thought to increase the risk of migraine in women has been shown, in fact, to have a mildly protective effect, according to a new study published in the journal Neurology. However, the study also shows that if women go on to develop migraines...
25 October 1999 - by BioNews 
The pharmaceutical giant Glaxo Wellcome announced that it is is close to identifying the human genes that make some people more susceptible to three common illnesses - migraine, adult-onset diabetes and psoriasis. A new approach to gene sequencing called single nucleotide polymorphism (SNP) mapping located the predisposition genes far quicker than...


 

Study reveals 'gender bias' in IVF treatment

04 October 2010

By Ken Hanscombe

Appeared in BioNews 578

The probability of having a male baby is affected by fertility treatments, Australian scientists have found. Up to 4.6 percent more boys were born with some treatments and up to 2.8 percent more girls with others. The national population-based study is the first to assess the impact of fertility treatments on the ratio of boys to girls born.

Ms Jishan Dean, co-author of the study from the School of Women's and Children's Health, University of New South Wales said in a press release: 'The results from this study demonstrate that a particular assisted reproductive technology (ART) procedure or treatment course can alter the probability of having a male baby from the natural sex ratio at birth'.

The team looked at 13,368 Australian and New Zealand babies born to 13,165 women between 2002 and 2006 following fertility treatment using single embryo transfer. They found that IVF caused 53.0 percent of live births to be boys, 2.5 percent more than the long-term Australian average.

Implanting embryos four days after fertilisation (blastocyst stage) also increased the probability of having a male baby to 54.1 percent, but implanting after two or three days (cleavage stage) reduced this to 49.9 percent. Half of all births following ICSI (intracytoplasmic sperm injection) were girls.

The imbalance was even greater when these techniques were used in combination. IVF and blastocyst-stage embryo transfer increased the probability of having a male baby to 56.1 percent; ICSI and cleavage-stage transfer decreased the probability to 47.7 percent.

Ms Dean called for more research into the underlying causes of the gender imbalance. Professor Philip Steer, editor-in-chief of the British Journal of Obstetrics and Gynaecology (BJOG), which published the research, agreed. He said: 'It is important that we don't allow such imbalances to occur unintentionally, simply because we have neglected to study the factors that influence the secondary sex ratio (SSR) in the increasing proportion of the population who use ART'.

Dr Allan Pacey, from the University of Sheffield, said: 'Patients should certainly not consider using this as a method of trying to have a boy or girl, since the procedure used needs to be selected to try and maximise the chance of pregnancy'.

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

08 November 2010 - by Dr Rachael Panizzo 
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 remains very low - approximately 0.57 percent, or one in every 176 babies born....
01 November 2010 - by Dr Tamara Hirsch 
A woman's chances of conceiving may be influenced by her blood group, according to recent preliminary research findings in the US. This is the first time a link between fertility and a blood group has been identified....

07 June 2010 - by Dr Iain Brassington 
To what extent is it permissible for people to choose for or against certain desired characteristics in their future children? There's a range of ways in which we might do this - for example, we might attempt to insert or delete a particular gene into or from a gamete prior to conception, or we might choose embryo C from the petri-dish over embryos A, B and D...
15 March 2010 - by Nishat Hyder 
The Australian federal five-year moratorium on the use of gender selection technology in IVF (in vitro fertilisation) treatment for so-called 'social' reasons ends this year, reopening this controversial debate. The Australian health watchdog, the National Health and Medical Research Council (NHMRC), confirmed that that it will be conducting a review of this issue, beginning within the next few months, after the completion of its ongoing review of the Research Involving Human E...
01 March 2010 - by Dr Gabrielle Samuel 
Can you identify yourself? How? By your name, sex, religion, by what you do, or the relationships you form? These are the types of unenviable and arguably unanswerable questions the Wellcome Trust asks in its current Exhibition 8 Rooms, 9 Lives. The exhibition does not set out to answer questions about identity (and with good reason). However, wandering through the myriad of rooms the exhibition displays, through a series of individual life stories, brings to life at least some of the
07 April 2005 - by Alan E Masterton 
As a father who has fought to use gender selection, we of course always knew that what we sought for our family was the right thing for our particular circumstances. We never tried to suggest our moral standards were right for everyone. We certainly never tried to impose our moral...


 

Stem cells used to restore woman's shattered leg

04 October 2010

By Louise Mallon

Appeared in BioNews 578

A pioneering technique that uses stem cells to rebuild damaged tissue and generate new bone growth has been used by surgeons to treat a woman's broken legs.

Surgeons applied the patient's own stem cells in a gel mixture around the fractures during orthopaedic surgery to aid post-operative recovery. Stem cells were also used in a leg lengthening procedure. While it is not the first time stem cells have been used in orthopaedic surgery, it is believed to be the first time they have been used in leg lengthening procedures.

Diane Stuttard suffered two broken legs after being hit by a car while walking home in 2001 and was told by doctors that her left leg would need to be amputated.

She contacted Mr Anan Shetty, an orthopaedic surgeon reported to have used stem cells in his treatments, and underwent surgery at the private Alexandra Hospital in Chatham in Kent where doctors operated on her fractured tibia and fibula.

They extracted stem cells from bone marrow taken from her pelvis, which were mixed with a gel to help keep the cells in place. The surgeons reported new bone forming around the fracture within a few days. Surgeons also lengthened her leg by cutting the bone and slowly extending each end. A mixture of stem cells was injected around the cut and the leg was extended using an orthopaedic scaffold.

Both Mr Shetty and Diane are optimistic about her chances of making a good recovery. Diane told Sky News: 'I was advised to have the leg amputated by the surgeon in Leeds, but thankfully I said I wanted to wait until I had exhausted all avenues. I'm glad I did because this stem cell technique has come up and now it's my chance to get it right.

'It would be absolutely amazing to walk down the street without crutches and get back to some form of normality'.

The doctors and patient will have to wait 18 months before they can be sure the leg has healed.


SOURCES & REFERENCES
Sky News | 30 September 2010
 
The Telegraph | 30 September 2010
 

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Study finds gene linked to male infertility

04 October 2010

By Owen Clark

Appeared in BioNews 578

A study has shown that mutations in the NR5A1 gene may be responsible for many unexplained cases of male infertility.

The research team, led by scientists from the Pasteur Institute in Paris and Institute of Child Health in London, screened a group of 315 men who were unable to produce sperm, for mutations in the gene NR5A1.

The gene encodes for a protein that has a critical role in the development of the reproductive organs and in reproduction, and has previously been linked to problems with sexual development in both men and women.

The researchers found that seven of the effected individuals had mutations in this gene, while no mutations were found in a control group of 729 men who had normal sperm production.

Four of these men were also found to have altered levels of sex hormones, and another had testicular abnormalities, suggesting a link between the mutations and the problems with sperm production.

The study, published in the American Journal of Human Genetics, represents an important step in the search for genes that may be responsible for male infertility, which accounts for 30 to 50 percent of the fertility problems faced by couples trying to conceive.

The authors told the BBC: 'Approximately four percent of men with otherwise unexplained failure to produce sperm carry mutations in the NR5A1 gene'.

To date only a small number of genes have been linked to male infertility, with the majority of sperm production problems having no obvious cause.

Dr Allan Pacey, a fertility expert from Sheffield University said: 'Although this gene defect affects only a small number of men, we need more studies like this so we can fill in the gaps in our knowledge and possibly one day build a robust diagnostic test for male fertility based on genetics'.

SOURCES & REFERENCES
American Journal of Human Genetics | 30 September 2010
 
BBC News | 30 September 2010
 

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Caffeine may help with IVF treatment side effects

04 October 2010

By Matthew Smart

Appeared in BioNews 578

Researchers have found a molecule that they believe plays a key role in ovarian hyperstimulation syndrome (OHSS) - a potentially life-threatening condition that can arise from IVF treatment.

OHSS affects between five to 10 percent of women undergoing IVF treatment and can cause bloating, diarrhoea and nausea, or lead to more severe problems such as blood clots, kidney damage and respiratory failure.

The scientists from Middlesex University in association with Bart's Hospital in London analysed fluid surrounding human eggs and found that levels of adenosine, a common molecule in the body, were high in some people.

The lead researcher on the study, Professor Ray Iles from Middlesex University, said: 'Although adenosine has been detected in follicular fluid before, we were surprised at the extremely high levels detected in this study'.

The molecule is known to cause blood vessels to become leaky, allowing fluid to escape into the tissues. Experts believe that the drugs used in IVF treatment increase the levels of adenosine, and that the ensuing leakage may be the cause of OHSS.

Other studies have shown that people metabolise adenosine at different rates, and that this is strongly linked to genetic makeup, which may explain why only some women undergoing IVF treatment have OHSS.

Individuals who clear adenosine more slowly are therefore likely to have higher levels, and to also experience more severe symptoms.

If scientists can find a way to block adenosine they may be able to reduce the effects of the condition. Fortunately, a candidate already exists in the form of caffeine.

'It may be that a cup of strong coffee with every IVF cycle could reduce the chances of OHSS. Caffeine competes with adenosine for the same receptors, effectively blocking adenosine's action, and it could therefore potentially treat the cause of this condition', said Professor Iles.

Studies are now being carried out to see whether caffeine is able to reduce the effects of OHSS. This research is published in the journal Metabolism.

SOURCES & REFERENCES
Coffee hope for IVF complication
UK Press Association | 01 October 2010
 
The Telegraph | 01 October 2010
 
Metabolism | 01 October 2010
 

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Professor Robert Edwards awarded Nobel Prize for pioneering work in IVF

04 October 2010

By Antony Blackburn-Starza

Appeared in BioNews 578

British scientist Professor Robert Edwards, 85, has been awarded the 2010 Nobel Prize in medicine for his ground-breaking in vitro fertilisation (IVF) work.

Professor Edwards' pioneering work began in the 1950s and cumulated in success in July 1978 when Louise Brown, the first 'test-tube' baby, was born in the UK. Working with Patrick Steptoe, who died in 1988, he successfully adapted a technique previously used in animals to safely remove eggs from the ovaries, fertilise them outside the human body and implant them into the womb. Since the birth of Louise Brown, more than four million babies worldwide have been born through IVF.

The Karolinska Institutet, responsible for selecting the Nobel Laureates in Physiology or Medicine, said Professor Edwards' contributions represented a 'milestone in the development of modern medicine'. In a statement it said: '[Professor Edwards'] achievements have made it possible to treat infertility, a medical condition afflicting a large proportion of humanity including more than 10 percent of all couples worldwide'.

Professor Edwards' work laid the foundations for further developments in fertility treatment, including techniques such as intracytoplasmic sperm injection (ICSI) and preimplantation genetic diagnosis (PGD).

Speaking on behalf of Professor Edwards and his family, his wife, Ruth, said: 'The family are thrilled and delighted that Professor Edwards has been awarded the Nobel Prize for medicine for the development of IVF.

'The success of this research has touched the lives of millions of people worldwide'.

Martin Johnson, Professor of Reproductive Sciences at the University of Cambridge, also welcomed the news. 'I am absolutely delighted. This is long overdue', he said. 'Bob's work has always been controversial, but he has never shrunk from confronting that controversy. He was a real visionary and always ahead of his time on so many issues - not just IVF - also on PGD in the 1960s, stem cells in the 1970s, and the whole process of thinking ethically.

'He is also an amazing human being - warm and generous', he said.

Mike McNamee, chief executive of Bourn Hall, the world's first assisted conception clinic co-founded by Professor Edwards in 1980, said: 'Bob Edwards is one of our greatest scientists. His inspirational work in the early 1960s led to a breakthrough that has enhanced the lives of millions of people worldwide'.

Dr Luca Gianaroli, chairman of the European Society of Human Reproduction and Embryology (ESHRE), of which Professor Edwards is a founding member and its first chairman in 1985, said: 'Without Bob there would be no ESHRE and no Human Reproduction [the journal], and all of us working in reproductive medicine would be the poorer for that'.

Born in Yorkshire in 1925, Professor Edwards was driven by a motivation to help infertile couples conceive. 'The most important thing in life is having a child', he once said. 'Nothing is more special than a child'.

Professor Edwards was awarded the Albert Lasker Clinical Medical Research Award in 2001 by the Lasker Foundation for his work in IVF.

 

 


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Film Review: The Switch / The Back-Up Plan

04 October 2010

By Ruth Saunders

Progress Educational Trust volunteer

Appeared in BioNews 578

The Switch

Directed by Josh Gordon and Will Speck

Based on the story by Jeffrey Eugenides

ASIN: B003ZDNHKO

Buy this film on DVD from Amazon UK or Amazon USA

'The Switch', directed by Josh Gordon and Will Speck


The Back-Up Plan

Directed by Alan Poul

ASIN: B0033AGJ2W

Buy this film on DVD from Amazon UK or Amazon USA

'The Back-Up Plan', directed by Alan Poul


The Switch and The Back-Up Plan are films about donor insemination and the single woman. Two New York women opt to use a donor's sperm after their dreams of settling down with 'Mr Right' and starting a family don't go to plan. Both films treat the topic of fertility treatment as rom-com territory rather than the makings of a gritty drama.

The Back-Up Plan is a predictable and clichéd rom-com with laugh-out-loud moments, including a hilarious scene where Zoe (Jennifer Lopez)'s pet dog eats her pregnancy test. Zoe is in her late thirties and desperate for a child, but hasn't met the right man. Instead, she arranges for donor insemination through a fertility clinic.

On the day she is inseminated, she meets the charming Stan (Alex O'Loughlin), the type of man she'd like to settle down with. Zoe struggles whether to reveal her pregnancy to him, but eventually confesses. Despite the initial shock, Stan decides to stick around and raise Zoe's donor-conceived children. But the stress of pregnancy and planning the rest of their lives threatens to destroy the newly-formed romance.

Unfortunately, the chemistry between Lopez and O'Loughlin is unconvincing and the plot far too outlandish to reflect the realities of fertility treatment and pregnancy. The film is rife with stereotypical, overacted and perhaps patronising pregnancy gaffs, including Zoe's mood swings and inability to fit into her pre-pregnancy clothes. These 'problems' make the conflict and romance somewhat contrived and shallow.

Like Zoe in The Back-Up Plan, the heroine of The Switch is also unmarried and desperate for a child. Forty-year-old Kassie (Jennifer Aniston) decides to get pregnant by self-insemination, but later discovers the dashing donor she chose may not be the father.

Her best friend Wally (Jason Bateman) is a neurotic and pessimistic character, whose only happiness in life is the time he spends with Kassie, whom he has strong feelings for. Wally is downhearted when Kassie rejects his offer of being the sperm donor and announces she has found the perfect donor, the handsome and athletic Roland (Patrick Wilson).

The plot twists when Kassie's friend throws her an 'insemination party' and Wally drunkenly replaces Roland's 'offering' with his own before blacking out. The film skips forward seven years when Kassie returns to New York with her six-year-old son Sebastian (Thomas Robinson) in tow. Sebastian and Wally share many traits and form a strong bond, leading Wally to believe Sebastian is his biological son. Wally breaks the news to Kassie, hoping she will forgive him and allow him to have a relationship with his son.

The film starts slowly, but picks up when Sebastian (a brilliant performance from Robinson) is introduced. Although Aniston and Wilson deliver fairly generic performances, there are funny, touching and believable moments between Bateman and Robinson, as the two bond as misfits from different generations. There are also comedic performances from Jeff Goldblum and Juliette Lewis, playing Kassie and Wally's friends.

These strong performances aren't enough to make up for an awkward plot. The Switch covers too many bases and fails to get to grips with the implications of using a known sperm donor. Instead, the donor (Roland) and male lead (Wally) are cast as romantic rivals. Both The Switch and The Back-Up Plan involve a romantic lead/father figure to 'complete' an idealistic family arrangement.

In both films, fertility treatment is glossed over and glamorised. Kassie and Zoe are wealthy New Yorkers with successful careers and financial freedom. Financing artificial insemination is not considered an issue, despite this being the most important and commonest problem for those considering it.

Kassie and Zoe are successful on their first insemination attempt, but the real pregnancy rate after donor insemination is very low per menstrual cycle. About two-thirds of women are not successful until after six cycles of treatment. The lengthy relational and emotional burden of artificial insemination is also overlooked. Are they useful to the person considering and struggling with fertility treatment? Absolutely not. But as an idealistic and empty pick-me-up, they're both spot on.


Buy The Switch on DVD from Amazon UK or Amazon USA, and buy The Back-Up Plan on DVD from Amazon UK or Amazon USA.

SOURCES & REFERENCES

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