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Issue 643 (06 February 2012)


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

Visit the BioNews website at 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.





News Digest




The myth of the genomic revolution

06 February 2012

By Dr Stuart Hogarth and Professor Paul Martin

Dr Stuart Hogarth is a member of the Global Biopolitics Research Group in the Department of Political Economy at King’s College London. Paul Martin is Professor in Science and Technology Studies at the University of Nottingham.

Appeared in BioNews 643
'Building on our inheritance: Genomic technology in healthcare' is the latest in a long line of reports that have sought to assess the potential of genomic medicine and to outline how policy can best support its development.

The report, published by the Department of Health's Human Genomics Strategy Group, is focused on the use of different forms of testing to stratify disease as a means of guiding clinical care. In the longer term the report advocates the routine use of whole genome sequencing as the bedrock for nearly all areas of biomedicine.

There is much to be welcomed in the report. It rightly points to the broad range of tests which are now beginning to find their way into clinical practice and it illustrates how some of these are already benefiting patient care. The report makes important points about the need for a framework for evaluating new tests before they enter routine clinical practice and identifies key areas where translation of basic science into clinically useful technologies and practices might occur.

However, in its enthusiasm for continuing heavy investment in genomics, it may be in danger of overselling what it claims will be 'a revolution in healthcare' (p14). The report describes genomic medicine as a 'major step-change in medical practice', but history suggests that diagnostic innovation is incremental and additive, not revolutionary. There is no reason to suppose that this is about to change. Whilst molecular diagnostics are having a growing impact in medical practice, the scale and pace of change thus far does not suggest a fundamental transformation is underway. The example of testing for the human papilloma virus (HPV) in cervical cancer screening (cited in chapter three) perfectly illustrates that point. In the USA it has not replaced cytology-based screening, it is used as an additional screen or to investigate borderline cytology results (incidentally, HPV testing is presented as a recent advance but it has been a standard of care in the USA for over a decade) (1).

Another instance of overselling in the report's vision statement (chapter one) is a serious overstatement of the current utility of testing for risk of common, complex disease. The truth is that few strongly predictive genetic markers for common complex disease have been found and, for the most part, at the moment we can do no more than tell people that they are at slightly higher than average risk or slightly lower than average risk - information which makes little difference to the kind of disease prevention strategies we should all be following (healthy diet, moderate alcohol intake, regular exercise etc.).

The report's overenthusiasm creates a fundamental tension between the authors' call for more systematic and rigorous evaluation of the evidence supporting the use of new diagnostic tests and their argument for the adoption of routine genome sequencing. The report suggests that once an individual has their genome sequenced, then that data will be used to guide 'every clinical decision' about the person, even if that data has only 'a small relevance' to a given clinical decision (p54). The assumption is that the incremental benefit of using genomic data in a variety of clinical contexts over the course of an individual's life will justify the cost of sequencing. This argument flies in the face of the report's detailed case for a rigorous and robust framework for introducing new diagnostic tests into the NHS. Rather than assuming that we should apply genomic data in any and every clinical situation, what we need are rigorous, well-powered studies which investigate the utility of specific testing applications in particular diseases or clinical contexts. These kinds of trials are expensive and there is little likelihood that the private sector will pay for them, so the onus will fall on government to support those efforts that bring maximum benefit to public health. We have to assume that, as with trials of pharmaceuticals, there will be a high failure rate and that progress will be slow.

There is no doubt that genomics will have a growing impact on healthcare; the scale and pace of that impact remains a matter of conjecture. We can predict with confidence that genome sequencing will continue to become cheaper and faster, but this rapid technological progress should not blind us to the complexity of diagnostic innovation and the challenge of establishing clinical utility for new tests. No matter how cheap genomic data becomes, cost cannot be allowed to trump clinical relevance.


28 August 2012 - by James Brooks 
I'll brook no cynicism, the Olympics was a dazzling display of what makes Britain great. Which is to say: marketing, PR and weapons-grade hype...
15 May 2012 - by Nishat Hyder 
The genetic cause of blonde hair may be different in populations in Europe and Oceania, researchers have found. A single mutation in the TYRP1 gene, which is not associated with blonde hair in Europeans, was found in around one-quarter of Solomon Islanders and is believed to be major determinant for the pigmentation...
12 March 2012 - by Dr Rebecca Hill 
Genome sequencing for all, the abuse of stored genetic data and red tape halting research are just some of the issues the NHS will have to deal with this year, according to Sir John Burn, professor of clinical genetics at the University of Newcastle, chair of the British Society for Human Genetics (BSHG)...
27 February 2012 - by Maria Botcharova 
Is medicine magic? No, of course not. The active ingredients in the medicines we take are simply chemical compounds which interact with our bodies to produce a net effect. And yet, when we take a pill and our headache promptly disappears, it can all feel a bit miraculous to someone who doesn't know the chemical mechanisms...

31 January 2012 - by Dr Linda Wijlaars 
Genomic medicine will be at the forefront of the NHS, according to a report released last week by the Human Genomics Strategy Group (HGSG). The report highlights the UK's achievements in genomic technology to date and makes six recommendations to ensure future benefit of genomic innovation within the NHS...
09 January 2012 - by Rachel Lloyd 
Personalised healthcare could be one step closer this year, as doctors from the prestigious US Mayo Clinic embark on a project to sequence the full genetic code of thousands of people...
31 October 2011 - by Dr Rebecca Robey 
The NHS must take steps to prepare for a revolution in genetics-based medicine, according to a new report by the independent think tank, the Foundation for Genomics and Public Health (the PHG Foundation). The Foundation says that rapid advances in technology will soon make it possible for individuals to have their entire genome analysed affordably, and this will have a major impact on many aspects of healthcare...
19 September 2011 - by Dr Rebecca Hill 
The first interpretation of a family's health risks using whole genome data has been carried out by US researchers. The team, from the Stanford University School of Medicine, looked at the DNA sequences of both parents and two children in this, the second reported study of a four-person family of genomes...
28 March 2011 - by Seil Collins 
A report published by the PHG Foundation argues there needs to be fairer access to genetics in mainstream medicine. It concludes that the UK's current approach to diffusing specialist genomic knowledge and applications into mainstream medical practice is not effective....


MPs call for more cord blood donations

06 February 2012

By Dr Mary Yarwood

Appeared in BioNews 643

The All Party Parliamentary Group (APPG) on Stem Cell Transplantation last week called for more facilities in the UK to increase the collection and banking of valuable cord blood.

'The UK is lagging behind other countries in its development of public cord blood banking', Labour MP Mark Tami, chair of the APPG, said. 'We hope our report will add new impetus to the Government's national plan for cord blood, and save the lives of 200 or more people each year who currently have no hope at all'.

The report endorses the findings of the UK Stem Cell Strategic Forum (SCSF), which in 2010 made recommendations aimed at increasing the number of stem cell transplants in the UK. It calls on the SCSF to determine the location of 13 cord blood collection hospitals to increase total donations to meet demand for transplants, outlined in its 2010 proposals. The report also stresses the importance of research and training to ensure the collection of blood is done as safely as possible for both the mother and baby.

Cord blood, which contains stem cells, is taken from the umbilical cord and placenta following the birth of a baby and can be used instead of bone marrow in the treatment of blood cancers such as leukaemia. At present, most cord blood is discarded after birth as clinical waste and there are few centres that collect donated blood. A recent nationwide survey found that 85 percent of women would donate cord blood so long as it had no impact on themselves or their baby, showing widespread public support for the aims of the APPG report.

Last year, the UK imported more than 80 percent of cord blood units used for transfusion because there was either no cord blood available or no matching donor. The lack of cord blood donors is especially acute for people from Asian, black, mixed race or other ethnic backgrounds and one of the targets of the report is to increase donations from these groups.

The Department for Health has granted £4 million to the bodies responsible for managing the UK's public cord banks. NHS Blood and Transplant and the Anthony Nolan Trust hope to increase the adult donor register and ensure that cord blood bank reaches 50,000 donation units. This could provide transplants for 85 percent of patients who require a stem cell transplant, but for whom there is currently no donor to match their needs.

The importance of cord blood banking was stressed by Professor Sir Mike Richards, the National Clinical Director for Cancer for the Department for Health. 'The development of cord blood banking has been an area of rapid development and intense international cooperation', he said. 'More than 20,000 cord blood transplants have been reported worldwide and more than 400,000 cord blood units have been stored in over 100 banks. Cord blood is now being used to treat more than 70 life threatening illnesses, and research is showing it also has huge promise for regenerative medicine, including therapies to treat spinal cord conditions and Parkinson's disease'.

Anthony Nolan/All Party Parliamentary Group on Stem Cell Transplantation report | 31 January 2012
Anthony Nolan Press Release | 31 January 2012


17 February 2014 - by Dr Barbara Kramarz 
A leukaemia patient in the UK, previously given up to 18 months to live, is now in remission after transplant of stem cells from two babies' umbilical cords.
06 June 2012 - by Holly Rogers 
Stem cells will be harvested and stored at an umbilical cord donor centre at the Birmingham Women's Hospital, UK, according to a BBC report...
13 February 2012 - by Dr Rebecca Hill 
US researchers have received approval to test whether cord blood stem cells could be used to reverse hearing loss in children...

22 November 2010 - by Dr Karen Devine 
In April 2008, a Los Angeles Times article posed the question: 'Can a child's umbilical cord blood be used to treat his own cerebral palsy?' (1) The article referred to the extraordinary improvement in health of a little boy in the US, Dallas Hextell, who has the motor neurone disease, cerebral palsy...
16 August 2010 - by Dr Helen Busby 
The possibilities presented by the storage or 'banking' of stem cells from umbilical cord blood after birth have attracted considerable public and media interest since the early part of this decade...
16 March 2010 - by Dr Karen Devine 
Back in 2002, I recall a story in Red magazine about a father who had allegedly collected the stem cells from his newborn baby's umbilical cord in the delivering hospital's car park. It said he had been handed the placenta - wrapped in newspaper - by the midwife and told that if he wanted to save the cord blood, it would have to be done outside. You might say that this is rather a strange place to procure such precious cells that have the ability to treat a range of blood cancers and disorder...
25 January 2010 - by Dr Karen Devine 
In last week's BioNews, Mr David Burrowes, MP, commented on his successful introduction of a private member's bill on umbilical cord blood (UCB) donation in the UK Parliament in 2008, and how his continued efforts to raise awareness of the benefits of saving UCB for public use has been favourably met in a recent adjournment debate in the House of Commons....
10 January 2010 - by Dr Karen Devine 
Conservative MP for Enfield, Southgate, David Burrowes, led an adjournment debate in the House of Commons this week on the issue of umbilical cord blood banking and use. Stem cells from the umbilical cord of newborn babies have been successfully used as an alternative to bone marrow in the treatment of many blood disorders such as leukaemia, sickle-cell disease and immuno-deficiencies. Clinical research has also shown that cord blood may be developed to treat diabetes, liver th...


Brain cells made from skin cells, bypassing stem cell phase

06 February 2012

By Cathy Holding

Appeared in BioNews 643

Mouse skin cells have been converted directly into neural precursor cells (NPCs) which go on to form the major cells in the brain.

In the study, published in PNAS, the scientists from Stanford University School of Medicine in the US skipped the stem cell stage normally required during the process. Having induced the skin cells, called fibroblasts, to become NPCs, the Stanford team were able to grow these cells on to become the three distinct types of brain cell.

Direct conversion of cell types has been achieved several times over recent years but the difference here is the successful conversion to NPCs. As NPCs can be grown in the laboratory into large numbers they are potentially useful should they be used in therapy.

Dr Marius Wernig, who led the research, said he was 'thrilled about the prospects for potential medical use of these cells'.

He added that his team had also shown that the cells could be successfully implanted into the mouse brain and produce a missing protein essential for brain cells to transmit electrical impulses: 'This is important because the mouse model we used mimics that of a human genetic brain disease. However, more work needs to be done to generate similar cells from human skin cells and assess their safety and efficacy'.

NPCs have previously been generated from induced pluripotent stem (iPS) cells, but they were generated with low efficiency and could not self-renew or develop into oligodendrocytes, one of the important brain cell types. In addition, iPS cells can cause cancers when transplanted into animals or humans.

'Direct conversion has a number of advantages', said Ernesto Lujan, the first author of the paper. 'It occurs with relatively high efficiency and it generates a fairly homogenous population of cells. In contrast, cells derived from iPS cells must be carefully screened to eliminate any remaining pluripotent cells'.

A separate team at Stanford University reported on a similar study last year (reported in BioNews 616) but the authors of the PNAS study say that the cell conversion on that occasion may have in fact transiently included the pluripotent stem cell state.


29 April 2013 - by Siobhan Chan 
Stem cell therapy has improved memory and learning in brain-damaged mice, according to a study in Nature Biotechnology...
11 June 2012 - by Dr Victoria Burchell 
Skin cells have been transformed into working brain cells thanks to the introduction of a single gene. Previous studies used several genetic factors and chemicals to perform the same feat but scientists in the USA report that just one gene, Sox2, is sufficient...
20 February 2012 - by Dr Caroline Hirst 
Skin cells from volunteers with Down's syndrome have been turned into brain cells in order to provide a new model for researchers to study Alzheimer's disease...

05 December 2011 - by George Frodsham 
Two separate studies have successfully transplanted neurons into the brains of mice. The transplanted neurons are able to send and receive electrical impulses, and can be used to compensate for faulty brain cells, restoring normal function. Both studies sourced the transplanted neurons from embryos – mouse embryos in one case, human embryonic stem cells were used in the other...
28 November 2011 - by Dr Marianne Kennedy 
On 18 November, Richard Grosjean became the first patient to receive a pioneering stem cell treatment in the upper part of the spinal cord. His procedure is part of an ongoing US-based clinical trial aimed at assessing the safety of injecting neural stem cells taken from eight-week-old fetuses into the spinal cords of patients with amyotrophic lateral sclerosis (ALS)...
18 July 2011 - by Dr Lux Fatimathas 
US researchers have successfully converted human skin cells directly into brain nerve cells, skipping an intermediate stem cell stage. The new technique has the potential to aid research into neurodegenerative disorders of the brain, such as Parkinson's and Alzheimer's....
08 February 2010 - by Sarah Pritchard 
A research team at Stanford University School of Medicine has for the first time successfully transformed mouse skin cells directly into neurons. They achieved this by infecting the skin cells with a genetically modified virus that inserts three different genes into the cells' DNA...
14 April 2008 - by Evelyn Harvey 
Nerve tissue derived from stem cells made from reprogrammed skin developed into normal brain tissue and relieved symptoms of Parkinson's disease in rats, in a study published in the journal Proceedings of the National Academy of Sciences of the USA (PNAS) last week. Scientists at the Whitehead...


Gene survey: Do you want to know your future diseases?

06 February 2012

By Suzanne Elvidge

Appeared in BioNews 643

The idea of whole genome sequencing is becoming ever more popular, but it could mean you end up with more information than you bargained for; from your resistance to certain drugs to your risk of developing a range of diseases. But would you want to know? The Wellcome Trust Sanger Institute ethics team has launched a survey to find out what people really do (and don't) want to know about their genomes.

Traditionally, researchers have studied anonymised samples, sequencing 20,000 or more gene in just a few weeks. While a given study might focus on cancer, the team may find genes linked with future risk of heart disease, a propensity to develop Alzheimer's disease, or even a piece of information about ancestry or paternity. Until now these 'incidental' or 'secondary' findings have not been fed back to the volunteers taking part.

This online survey will give the general public the opportunity to change the way this information is handled in the future.

'We need to understand what people want from whole genome testing', says Dr Anna Middleton, ethics researcher from the Wellcome Trust Sanger Institute. 'Policy is being written worldwide on what researchers should share from genome studies and yet much of this is based on anecdote and intuition'.

However, the questionnaire is not only to establish what participants want - it will also help understand the scientists' opinions. Dr Middleton explains some are concerned that asking the researchers to look for additional conditions will 'compromise or even cripple' the original research aims.

The launch of the survey follows a report from the Human Genomics Strategy Group, an independent cross-government advisory body, which aims to help UK patients benefit from genomic technology.

Professor Anneke Lucassen, consultant in clinical genetics at the University of Southampton, said: '[This] raises all sorts of ethical issues about what genetic results you share with people. Very soon this technology will be used in the NHS and we urgently need research that tells us what people want to know'.

The genomics and ethics (or 'genomethics') survey comprises ten short films, takes about 20 minutes to complete and doesn't need any prior knowledge of genetics. It is hoped that this will be one of the largest studies of its kind, and the results will help create policies for future genome studies.

Channel 4 | 31 January 2012
Genomes Unzipped | 31 January 2012
Genomethics | 31 January 2012
Pharma Times | 31 January 2012
BBC | 01 February 2012
Wellcome Trust blog | 01 February 2012
Sanger press release | 31 January 2012
Swan UK | 31 January 2012


29 September 2014 - by BioNews 
Young people are surprisingly well-informed about the basics of genetics and thoughtful about the kind of information they'd like to receive from genome studies, results from a international survey suggest...
07 April 2014 - by Rebecca Carr 
The American College of Medical Genetics and Genomics (ACMG) has updated its position on the return of results from genome sequencing to allow patients to opt out from receiving incidental information....
20 February 2012 - by Ayesha Jadoon 
With clear and concise information, the 'Genes and Life' DVD serves its purpose as an introduction to the field of genetics. However, it quickly became quite repetitive and lacked the entertainment value that would have taken it beyond merely an educational DVD...
13 February 2012 - by Dr Zara Mahmoud 
A sixth of men have a genetic variant which could increase their risk of heart disease by up to 56 percent, according to a recent study...

31 October 2011 - by Jessica Ware 
Google has joined forces with Californian start-up company, DNAnexus, to maintain a public DNA database online. The move follows an announcement by the US National Institutes of Health (NIH) that it may have to withdraw funding from the current public database, the Sequence Read Archive (SRA), due to funding cuts....
26 September 2011 - by Professor Anneke Lucassen and Alison Hall 
Suppose you have just had a genetic test for a condition that you suspect runs in your family. Aside from the possible implications for your own health, could – or should – your results be used to help to interpret tests done on other members of your family?...
19 September 2011 - by Dr Rebecca Hill 
The first interpretation of a family's health risks using whole genome data has been carried out by US researchers. The team, from the Stanford University School of Medicine, looked at the DNA sequences of both parents and two children in this, the second reported study of a four-person family of genomes...
01 June 2010 - by Dr Lux Fatimathas 
The DNA of up to four million newborn babies is being stored in UK hospitals without proper parental consent....
24 May 2010 - by Dr Philippa Brice 
The 2008 'House of Lords Science and Technology Committee Report' on Genomic Medicine failed to adequately reflect the realities of genomics and health, according to a new report released on 18th May 2010...


Australian IVF doctor sued for £7m after child born with genetic disorder

06 February 2012

By Ayesha Jadoon

Appeared in BioNews 643

An IVF doctor in Australia who was involved in the conception of a child affected by a genetic disorder is being sued for 'wrongful birth'.

Keeden Waller was born following IVF in 2000 but four days afterwards had a stroke which caused permanent brain damage resulting in him being unable to walk, talk or feed himself.

Keeden's parents, Debbie and Lawrence Waller, are suing Dr Christopher James for around 10 million Australian dollars for negligence, reports the Sunday Morning Herald. The couple allege they had told Dr James about the condition, which Keeden inherited from his father, yet he failed to inform them there was a 50 percent chance that their child could be affected too.

The New South Wales Supreme Court heard how Dr James gave the Wallers the telephone number for a genetic counsellor but did not himself seek out information on the risk. The number was for the main switchboard of the hospital where the counsellor was based and went unanswered when called. The Wallers did not call back and Dr James did not mention the genetics counsellor again during the course of treatment.

'We love Keeden now that he's here, but if we had the right information and the right options we wouldn't have gone ahead with the birth, not in the way we did', Mrs Waller told the Sydney Morning Herald. 'Had things been done right, Keeden would never have been here. He would never have to go through the suffering he goes through - seizures and all'.

But lawyers for Dr James told the court it was not the responsibility of IVF doctors to advise on the risks of passing a rare genetic disorder to any resulting children.

The Wallers are seeking compensation for mental distress and the cost of caring for Keeden. 'Neither parent has been able to work much. They've had to modify their home - the financial impact of something like this is huge', said the Wallers' lawyer.

Antithrombin deficiency is a blood clotting disorder. Although strokes can be caused by blood clots limiting or cutting off the supply of blood to a region of the brain, lawyers defending Dr James told the court there is little evidence of an increased risk of strokes in children with antithrombin deficiency.

'There are millions of children around the world who suffer from this disorder, but the incidence of stroke is extremely rare, particularly in neonates', said Dr James's barrister, Jeremy Kirk SC during the trial.

'It's relatively clear that the stroke would have happened anyway... [the blood condition] was, at most, a minor factor'.

This is the second time the Wallers have sought compensation. In 2006 they unsuccessfully claimed damages for 'wrongful life' on Keeden's behalf for loss of opportunity and earnings against Mrs Waller's two obstetricians and the IVF clinic.

Mail Online | 02 February 2012
Sydney Morning Herald | 01 February 2012
Sydney Morning Herald | 02 February 2012
Sydney Morning Herald | 01 February 2012


30 November 2015 - by Antony Blackburn-Starza 
A woman is suing a fertility clinic in Australia for failing to detect that she was a carrier of a genetic mutation during pre-pregnancy testing, after her sons were later born with an inherited condition....
27 January 2014 - by Antony Blackburn-Starza 
The Outer House of the Court of Session in Scotland has allowed a claim for compensation brought by a man whose sperm may have been damaged by a failure of a storage vessel to proceed to a full trial....
13 May 2013 - by Cait McDonagh 
The parents of a child born with a rare blood clotting disorder have lost their legal battle against an IVF doctor for wrongful birth after he failed to warn them of the risks of passing on the hereditary condition...
12 November 2012 - by Nishat Hyder 
The parents of a child with serious disabilities caused by an inherited rare genetic condition who died shortly after birth are suing St George's Hospital, London for failing to test for and identify the condition before birth....

28 November 2011 - by Jessica Ware 
A man is suing a US fertility clinic in negligence for 'mental and economic injuries' after alleging it used his 'stolen' sperm to impregnate his girlfriend without his consent....
03 November 2008 - by Ailsa Stevens 
Disciplinary proceedings against one of the UK's top fertility experts, Mohamed Taranissi, relating to allegations brought by two of his former patients, collapsed this week after the General Medical Council (GMC) ruled that there was insufficient evidence to support the charges. Mr Taranissi was accused of failing...
20 August 2007 - by Ailsa Stevens 
Women with fertility problems would rather take the risks associated with multiple pregnancies than risk not becoming pregnant at all, reveals research published in BJOG: An International Journal of Obstetrics and Gynaecology (BJOG) this month. Researchers from the University of Aberdeen surveyed a total of 74 women...


Sun, sex and babies: Could vitamin D boost fertility?

06 February 2012

By Ruth Saunders

Appeared in BioNews 643

Exposure to increased levels of vitamin D could boost your fertility, a recent study suggests. The findings may also explain why conception rates fall in the winter and peak in the summer in Northern European countries.

According to researchers from the Medical University of Graz in Austria, it has been known for some time that the vitamin D receptor is found in the reproductive organs of women and men. However very little was known about the role the nutrient played in reproductive health.

The study, published in the European Journal of Endocrinology, reviewed previously conducted research evaluating the relationship between vitamin D and fertility in women and men, as well as in animals.

The investigations showed that male mice bred to lack vitamin D receptors had lower sperm counts, while the females had abnormal ovary function.

Studies in humans present evidence that increased levels of vitamin D balance sex hormones in women and regulate the menstrual cycle, increasing levels of progesterone by 13 percent and oestrogen by 21 percent. In men, the nutrient was found to increase sperm count and improve sperm quality and testosterone levels.

Furthermore, in two of the studies reviewed it was found that conception may be more likely in the summer months. In a study of 2,300 men, researchers found that levels of testosterone and vitamin D peaked in the summer months and were at their lowest in March, after the winter. Women were also found to ovulate less in the winter months.

The studies led the Austrian team to conclude that, 'in addition to… the classic regulators of human reproduction, vitamin D also modulates reproductive processes in women and men'.

Does this mean that a sunshine holiday is in order? Lead author Dr Elisabeth Lerchbaum warned that although vitamin D could help to improve fertility, overexposure could lead to skin cancer.

She said: 'People could either spend more time outside in the sun - or they could take vitamin D supplements, which are a safe and cheap way to increase levels'.

Fertility practitioner Zita West agrees. 'Vitamin D is becoming increasingly important for fertility', she told Marie Claire magazine, 'Having done over 800 vitamin D tests, we have found that around 70 percent of our clients are deficient'.

However, as West points out, vitamin D deficiency is linked to other health problems such as obesity, polycystic ovaries and immune disorders. This demonstrates that the link between vitamin D levels and fertility are not clear cut.

Private MD | 31 January 2012
Daily Mail | 30 January 2012
European Journal of Endocrinology | 24 January 2012
Marie Claire | 30 January 2012
Huffington Post | 30 January 2012


20 November 2017 - by Dr Katie Howe 
Women who had fertility treatments were a third less likely to deliver a baby if they had low levels of vitamin D, compared with women who sufficient vitamin D, a review study has found...
18 May 2015 - by Dr Anna Cauldwell 
Scientists have shown that there are seasonal changes in how our immune system functions....
02 September 2013 - by Dr Shanya Sivakumaran 
Two UK newspapers have proclaimed the fertility-boosting benefits of the raspberry, with NHS Choices branding the claims 'misleading'...
18 March 2013 - by Simon Hazelwood-Smith 
Human semen quality may rise and fall in seasonal variation, with the best quality being produced in the winter and spring...

12 December 2011 - by Owen Clark 
A rare genetic variant causing lower levels of vitamin D has been linked to multiple sclerosis (MS), according to scientists...
05 December 2011 - by Dr Caroline Hirst 
Women receiving fertility treatment are more likely to become pregnant if they take multivitamin supplements, reports a UK pilot study...
24 January 2011 - by Dr Marianne Kennedy 
Couples struggling to conceive may be more likely to have a child if the man takes certain vitamins or other antioxidants, according to scientists....
31 August 2010 - by Julianna Photopoulos 
Researchers from the UK and Canada have identified 229 human genes that are influenced by changes in vitamin D levels. Several of these genes are implicated in cancers and autoimmune diseases such as multiple sclerosis (MS), Type 1 diabetes, lupus, and rheumatoid arthritis....


'Goldilocks' gene response to TB suggests best treatment

06 February 2012

By Dr Linda Wijlaars

Appeared in BioNews 643

The best treatment for tuberculosis (TB) could depend on which version of a particular gene the patient has. Researchers from the UK, USA and Vietnam combined studies in zebrafish with clinical work to identify a gene that controls the inflammatory response in TB. It is one of the first applications of personalised medicine outside of cancer treatment.

'It's like a 'Goldilocks' gene. Depending on what versions of the LTA4H gene you have inherited, you could see an inflammatory response to TB that is 'too much', 'too little', or 'just right'', explains Dr Sarah Dunstan, head of human genetics at Oxford University's Vietnam unit and study co-author. 'You are likely to benefit most from a treatment tailored to your own genes'.

Variations in the LTA4H gene alter different biological pathways, leading to either too much or too little inflammation after infection by Mycobacterium tuberculosis. In zebrafish, both extremes allowed the bacteria to thrive and multiply. The study went on to show that blocking the appropriate biological pathway with drugs could restore just the right level of inflammatory response in the fish.

Dr Guy Thwaites of King's College London, who led the clinical study in Vietnam says: 'This is a fundamental discovery. It is now possible to think about the use of simple but rapid genetic tests to determine how people will respond to tuberculosis infection and whether they would benefit from steroids'.

The most severe form, tuberculosis meningitis, affects the brain and is seen in around one or two in every 100 cases. The team found that only those with LTA4H genes that cause too much inflammation benefited from the standard treatment, a combination of antibiotics to kill the bacteria and the steroid dexamethasone to reduce inflammation.

There was also the suggestion that steroids may have an adverse effect on patients with the version of LTA4H that causes a reduced inflammatory response. However, this result is not statistically significant.

'The findings could apply much more widely than just in tuberculous meningitis, or other forms of TB', said Dr Thwaites. 'Since the inflammation pathways governed by the LTA4H gene are central to many infections, there could be implications for many diseases'.

There were an estimated 9.4 million cases of TB and 1.7 million deaths worldwide in 2009. It is estimated that one third of the world's population is infected with latent TB.

Wellcome press release | 03 February 2012
Daily Mail | 03 February 2012
Host Genotype-Specific Therapies Can Optimize the Inflammatory Response to Mycobacterial Infections
Cell | 03 February 2012


16 September 2013 - by James Brooks 
Scientists have shown how to map tuberculosis outbreaks using DNA sequencing, an advance that could lead to quicker, more effective responses to the potentially lethal bug...
04 February 2013 - by Dr Charlotte Warren-Gash 
The bacteria that cause tuberculosis (TB) evade immune cells and drug treatments by hiding in bone marrow stem cells, according to research...

31 January 2012 - by Dr Linda Wijlaars 
Genomic medicine will be at the forefront of the NHS, according to a report released last week by the Human Genomics Strategy Group (HGSG). The report highlights the UK's achievements in genomic technology to date and makes six recommendations to ensure future benefit of genomic innovation within the NHS...
05 December 2011 - by Sarah Pritchard 
Two gene rearrangements associated with prostate and lung cancer could also be behind five to seven percent of all breast cancers, according to US scientists...
28 November 2011 - by Dr Rosie Gilchrist 
An initiative has been launched to collect genetic data from NHS cancer patients in the hope of developing new, personalised treatments....
17 October 2011 - by Luciana Strait 
Genetics and stem cell research have been combined for the first time to correct a genetic mutation associated with liver disease. This new approach could lead to people with a genetic disease being treated with their own cells....


California clinic to perform stem cell procedure amid FDA lawsuit

06 February 2012

By Maria Botcharova

Appeared in BioNews 643

A clinic in California has announced that its doctors are licensed and trained to carry out a stem cell treatment for chronic pain. Meanwhile, the US Food and Drug Administration (FDA) is pursuing a lawsuit against Regenerative Sciences, the company that developed the technique.

Regenerative Sciences claims that the procedure, called Regenexx, is an alternative to potentially painful surgery for injuries such as bone fractures and torn tendons. Doctors take stem cells from the bone marrow of a patient, and process them in a solution, so that they strengthen and multiply. They are then injected into the injured joints, helping to rebuild damaged tissue.

The FDA states that stem cell treatments are a type of medication, and so fall under its jurisdiction. It says the safety of the procedure has not been sufficiently tested, and inspections showed that facilities offering the treatment do not meet its standards. It has insisted that Regenerative Sciences stop performing the Regenexx procedure until the case is resolved.

Regenerative Sciences counter that because stem cells are produced by the body, they are not drugs, so the treatment does not need FDA approval. The group claims to have treated more than 1,000 patients and spent over $500,000 on testing. Regenerative Sciences also point out that the California clinic uses a modified version of the technique that does not include a growth enhancer, a crucial part of the FDA's lawsuit.

Dr Christopher Centeno, director of Regenerative Sciences, says that the FDA is pursuing the case because it fears that Regenexx will become a successful alternative to pain medication, and threaten the FDA's control of a lucrative market. 'Unfortunately, in many cases, it's the clients suffering the most that we can't treat now', he told 5280 - the Denver Magazine.

However, Professor George Muschler, an orthopedic surgeon at Case Western Reserve University in Ohio is concerned by the medical risks of Regenexx after reviewing the published case studies. The procedure 'may be degenerating into an undisciplined and unfocused and even groping and wishful fishing expedition', he told ABC7 News.

The FDA's lawsuit was filed in August 2010 but may not reach a federal court until 2013.


19 September 2016 - by Dr Lucy Freem 
The US Food and Drug Administration has held a public hearing on proposals to regulate stem cell treatments in the same way as drugs...
30 June 2014 - by Dr Lucy Spain 
A stem cell therapy that is highly successful at keeping race horses in the fast lane is to be trialled in humans for the treatment of Achilles tendinopathy...
23 September 2013 - by Nishat Hyder 
An expert panel of scientists has issued a report advising the Italian Government against continuing to support a controversial stem cell therapy, deeming it 'unscientific'....
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...
30 July 2012 - by Ruth Retassie 
A US federal court has ruled that a stem cell product is classified as a 'drug', falling under the jurisdiction of the Food and Drug Administration (FDA). The ruling allows the FDA to regulate stem cell therapy in the USA and could open clinics that offer stem cell treatments open to federal liability...

17 October 2011 - by Jessica Ware 
A US doctor accused of implanting stem cells into chronically ill patients pleaded not guilty at a court hearing on Thursday 13 October. Dr Ralph Conti, of Henderson, Nevada, has been accused of transplanting stem cells harvested from placental tissue into patients, at the direction of Alfred Sapse, who was falsely claiming to be a doctor....
30 August 2011 - by Ayesha Ahmad 
A US businesswoman from Arizona has been convicted of selling unapproved stem cells over a period of several months....
23 August 2010 - by Nishat Hyder 
The US Food and Drug Administration (FDA) has demanded a federal injunction from the US District Court of the District of Columbia to stop Regenerative Sciences (a Colorado based stem cell clinic) from using patients' own stem cells as medicinal treatment...
22 March 2010 - by Dr Marianne Kennedy 
The ability for mammals to regenerate damaged tissue without scarring has been demonstrated for the first time by a research team based at the Wistar Insitute, Philadelphia...
08 March 2010 - by Harriet Vickers 
A US company has been granted beneficial 'orphan drug' status by the American Food and Drug Administration (FDA) for an embryonic stem cell therapy it's developing to treat a rare form of blindness...


US stem cell company given green light for blindness trials

06 February 2012

By Ruth Retassie

Appeared in BioNews 643

US company StemCells Inc have received Food and Drug Administration (FDA) authorisation to carry out clinical trials of their treatment for a leading cause of blindness in over 55-year-olds.

This is the latest in a number of clinical trials assessing the potential use of stem cells as a treatment for dry age-related macular degeneration (AMD), which affects around 30 million people worldwide.

StemCells Inc's treatment, which injects purified central nervous system (CNS) stem cells into the patient's retina, has been approved for phase I/II clinical trials to assess its safety and efficacy.

A total of 16 patients will be enrolled in this trial, and they will receive standard ophthalmological examinations throughout the first year. A separate observational study will then assess the patients over the subsequent four years.

There is currently no cure or treatment for dry AMD, although some trials are attempting to delay the vision loss process. It is caused by the degeneration of the cells below the retina in the eye, which causes a loss of photoreceptors and eventually blindness.

Approval was given following positive results in initial tests using a well-established rat model of retinal disease. Study author Dr Raymond Lund said that in this study, published in the European Journal of Neuroscience, 'the effect on vision was long-lasting and correlated with the survival of [stem cells] more than seven months after transplantation'. Furthermore, there was no evidence of any uncontrolled, tumour-like cell growth, an important result in terms of clinical use.

Recently biotech company Advanced Cell Technology and the Jules Stein Eye Institute at the University of California, Los Angeles reported positive results in clinical trials of stem cell injections to treat two different types of eye disease (reported in BioNews 642).

StemCells Inc has already begun clinical trials with purified stem cells in patients paralysed from spinal cord injuries and also for children with Pelizaeus-Merzbacher disease, a rare degenerative disorder of the central nervous system.

24/7 Wall St. | 02 February 2012
Wall Street Journal | 02 February 2012
StemCells, Inc. Announces Publication of Preclinical Data Demonstrating Its Human Neural Stem Cells Preserve Vision
MarketWatch | 30 January 2012
StemCells, Inc. (Press Release) | 02 February 2012
European Journal of Neuroscience | 25 January 2012


05 October 2015 - by Jenny Sharpe 
A potential treatment for wet age-related macular degeneration has been carried out for the first time...
29 July 2013 - by Dr Greg Ball 
Light-sensitive cells found in the retina have been grown from mouse embryonic stem cells (ESCs) and successfully transplanted into the eyes of visually impaired mice, restoring some vision...
28 May 2012 - by Ana Pallesen 
Two patients with corneal blindness have become the first people in the UK to have stem cells transplanted into their eyes in order to restore their sight...
16 April 2012 - by Ana Pallesen 
A commercial London laboratory is working with a clinic in Lebanon that uses medical techniques that are not verified by the medical community, and fall outside most countries' legal parameters...
12 March 2012 - by Dr Nadeem Shaikh 
A potential stem cell therapy for glaucoma – a degenerative eye condition that can lead to blindness – has yielded positive results in animal tests...

31 January 2012 - by Rosemary Paxman 
A clinical trial testing the safety of using human embryonic stem cell (hESC) in the treatment of progressive eye conditions has been carried out by researchers in the USA...
31 January 2012 - by Dr Dusko Ilic and Dr Emma Stephenson 
Last week, Advanced Cell Technology (ACT) of Massachusetts, USA, made two important announcements regarding human embryonic stem (hES) cell-based therapies for the potential treatment of Stargardt's dystrophy and age-related macular degeneration, two devastating degenerative disease leading to blindness....
31 January 2012 - by Dr Dusko Ilic 
In the last few months of 2011, a couple of stories on human embryonic stem cells hit the headlines. Both were bad news for stem cell researchers...
26 September 2011 - by Dr Rachael Panizzo 
UK scientists have been granted approval to begin the first clinical trial using embryonic stem cells (ES cells) in Europe, which they hope could lead to an effective treatment for a degenerative eye disease causing blindness...
18 July 2011 - by Dr Sophie Pryor 
Doctors in the USA have begun treating patients in two clinical trials for degenerative eye diseases. The studies at the Jules Stein Eye Institute at the University of California, Los Angeles (UCLA), will test whether specialised eye cells, which have been produced from human embryonic stem cells (hESCs), can be used to treat dry age-related macular degeneration (dry AMD) and Stargardt's macular dystrophy....


Concern over Welsh IVF shake-up

06 February 2012

By Jessica Ware

Appeared in BioNews 643

The Welsh NHS has drawn criticism over its plan to open a new IVF clinic to replace one which is privately run. The new centre will cost £1.5 million and has sparked debate about the Welsh government's policy to not use the private sector in health care.

The centre, to be based at Neath Port Talbot Hospital, will take over from a Swansea-based clinic run by the London Women's Clinic. The contract for the clinic comes to an end in April and has not been renewed as the Welsh government seeks to reduce the use of private care within the publicly-funded health service.

In a further change the Swansea clinic is overseen by the Cardiff and Vale University Health Board, but IVF treatment at the new centre will be managed by Abertawe Bro Morgannwg University Health Board. Services at the new centre will closely resemble those provided at IVF Wales, a clinic in Cardiff.

Speaking to WalesOnline, the Welsh assembly shadow health minister Darren Millar called the decision 'ludicrous'. He said it was 'an expensive mistake based on nonsensical ideology and a stubborn attitude towards the independent sector'.

Paul Davies, Conservative Assembly Minister for Preseli Pembrokeshire added to the criticism in an interview with BBC Radio Cymru, saying that the NHS were already under enough financial pressure without making changes driven by 'dogma and ideology'.

'If a private company can offer a service of good quality, and value for money for the taxpayer, I don't see what the problem is', he added.

The new centre will open in September, leaving a gap of five months in which patients will have to travel to IVF Wales for treatment. 

A spokeswoman from the Abertawe Bro Morgannwg University Health Board said, however, that while the clinic will cost £1.5 million to set up, it will cost £750,000 a year to run, which is the same amount as the private clinic which is being shut.

The Welsh Health Specialised Services Committee, which is responsible for planning IVF services, offered their reassurance on the move, saying that the number of patients needing treatment in the coming year will be assessed to reduce waiting times, and that measures will be put in place to 'ensure that there is no detrimental impact on patient's treatment'.

The Welsh government have voiced their approval of the plans, saying they were 'committed to reducing the use of the private sector within the health service in Wales and increasing capacity in the NHS'.

BBC News | 30 January 2012
WalesOnline | 21 January 2012
This Is South Wales | 21 January 2012
Daily Post | 11 June 2011


06 October 2014 - by Dr Nicoletta Charolidi 
A project to investigate the genetic history of the Welsh which will also give participants information about their own DNA make-up, is now underway...

28 November 2011 - by Julianna Photopoulos 
Another blunder at IVF Wales in Cardiff destroyed a batch of 'exceptional' eggs only hours after they were donated, leaving a couple devastated...
21 November 2011 - by Dr Lux Fatimathas 
Apologies have been issued by a Welsh IVF clinic following the accidental destruction of three patients' sperm samples. The samples, known as straws, were collected from patients undergoing treatments for blood disorders and cancer that may affect their fertility. An investigation is underway as to why no senior staff were informed when the samples were destroyed in March this year...


Book Review: Ethical Issues of Human Genetic Databases - A Challenge to Classical Health Research Ethics?

06 February 2012

By Dr Gill Haddow

Senior Research Fellow and Lecturer, ESRC Innogen Centre

Appeared in BioNews 643

Ethical Issues of Human Genetic Databases: A Challenge to Classical Health Research Ethics?

By Professor Bernice Elger

Published by Ashgate

ISBN-10: 0754674924, ISBN-13: 978-0754674924

Buy this book from Amazon UK

'Ethical Issues of Human Genetic Databases: A Challenge to Classical Health Research Ethics?' by Professor Bernice Elger

For those of you perhaps unfamiliar with the existence of human genetic databases, they are exciting, but controversial, endeavours by some countries to build upon the successful mapping of the human genome. The organisers and funders of genetic or DNA databases (DNA databanks) aim to collect and store the DNA of individuals alongside their physical, emotional, familial, lifestyle and genealogical information.

The beauty of Bernice Elger's rather excellent take on such databases, gathered together in her book the 'Ethical Issues of Human Genetic Databases', is that she gets right to the crux of the matter. Here we have an in-depth and detailed study of some of the more well known DNA databanks such as the infamous, now bankrupted, Icelandic database DeCOde Genetics; the UK BioBank; the Estonian database and a small Swiss Paediatric Tumour Bank (which, to be honest, I hadn't heard of). With a background in sociology I find myself wanting to quibble a little with the justification for studying these specific examples - Elger writes, 'limiting the analysis to genetic databases of which the details have been most widely analysed'. But that is a minor grumble.

DNA databanks are testament to the generally interdisciplinary type of scientific research that is context driven and focusing on a specific problem (1). To the bankers, there is no defined purpose for the DNA/info combo. This is where I feel the ethics then become enmeshed in a 'Jenga' type construction puzzle. The participants of the DNA databases are asked for a sample of their blood, and to provide lifestyle information, with the aim that it will help understand, or even offer cures for, diseases that are yet to be determined. This allows unknown researchers and possibly even some organisations that they would deem 'unethical' (for example pharmaceutical or insurance companies) to access them.

This requires an 'open' version of consent (as opposed to 'informed' - assuming such a thing exists) from participants, allowing DNA databases not to specify future or particular uses. This is not due to unwillingness but inability. The 'check' is generally provided by the suggestion the purpose will be medically related and reviewed by an ethics committee. As some participants may not be convinced about this type of review process there must be an option for withdrawal. Setting aside the fact that withdrawal may come too late (for instance after the data and samples have been used for a particular purpose), the fact the option to withdraw has to be given means that 'anonymity' must be reversible. Otherwise it would be impossible to identify the data and sample to be removed.

But back to Elger's book, which I believe is fundamental reading for anyone hoping to understand the development of such an ethical quagmire, and the potential solutions. In the first section she offers a detailed historical account of the development of these DNA databases. You would be hard pushed to find a clearer, more detailed study than this.

In the next section she focuses upon some key ethical questions raised by participation in DNA databases, revolving around consent, confidentiality, feedback to individuals regarding their propensity to inherit a disease, and finally whether benefits from the database should be shared. This is contextualised in the traditional principles of research ethics such as autonomy, beneficence, non-malifience and justice (the funky sounding 'Georgetown Mantra').

Finding a role for these classical research ethics in guidance, Elger argues there is no need to supplement them with new ones such as altruism, solidarity and familial mutuality, as has been the case by organisations such as the Human Genetics Commission (2) or the HUGO 2000 (3) statement on benefit-sharing. She does not find them sufficiently justified or necessary. I would be more reluctant to disown solidarity, and find the recent report for the Nuffield Council by Prainsack and Buyx (4) provides a defence of it.

I have to say I was a wee bit disappointed not to have the ownership issue tackled head on. For example, if the point is that the ethics of DNA database are more difficult because it is related to DNA/info combo and not human subjects per se then the implications of ownership becomes a pertinent one. Elger takes it off the ethical radar and places it firmly onto the legal one, which is fair enough.

There are also 38 continuous pages of tables, which is a lot for anyone to take in. But it is a useful resource listing international guidelines and whether they are, for example, principle based - and one that can easily be searched and skimmed through for a particular reference. To be truthful I did not have the appetite to read it in entirety.

It would be churlish of me to want the legal and social issues included in Elger's discussion (thereby formulating the prerequisite ELSI, Ethical, Legal and Social Implications [Research Program], that is generally attached to DNA databanks). This was a book about the ethics of human genetic databases. Most importantly, this book will remain on my bookshelf as an extremely useful addition to the DNA database literature. So, I'm afraid you'll need to buy your own copy as I am not loaning my own out. Sorry.

Buy Ethical Issues of Human Genetic Databases: A Challenge to Classical Health Research Ethics? from Amazon UK.

Oxford Polity Books, Blackwell Publishers Ltd, | 2001
2) Inside Information: Balancing interests in the use of personal genetic data
Human Genetics Commission | 05/2002
HUGO Ethics Committee | 09/04/0
Nuffield Council on Bioethics | 2011


25 April 2016 - by Dr Barbara Prainsack 
A recent Wellcome Trust report says the public are worried about the 'one-way mirror', which allows companies full access to health data while the public know little about what they are doing with it and whom they're sharing it with...
30 March 2015 - by Professor Nils Hoppe 
One of the legally and ethically problematic issues regularly debated in the context of biobanks and tissue repositories is that of its potential for forensic use. When Anna Lindh (the Swedish foreign minister) was murdered in 2003, her killer was subsequently identified by way of matching DNA traces found at the crime scene with data contained on the killer's Guthrie card...
09 July 2012 - by Dr Megan Allyse 
When US based, direct-to-consumer genetic testing company 23andMe announced last month that it had obtained a patent on a method for determining predisposition to Parkinson's disease, it highlighted, perhaps inadvertently, a growing area of unresolved tension between clinical, commercial and research interests....
02 July 2012 - by George Frodsham 
People who undergo genetic testing to establish their future risk of developing a genetic condition, such as Alzheimer's or breast cancer, will continue to have the right to take out health insurance without disclosing the test results to their insurer....
02 April 2012 - by Cait McDonagh 
The world's largest database of medical information has opened online, allowing researchers around the world to access its contents. The UK Biobank holds anonymous information from more than 500,000 British people, making it a 'globally unique resource' according to England's chief medical officer, Dame Sally Davies...

31 January 2012 - by Dr Amy Strange 
The recent ruling of the European Court of Justice (ECJ) excluding inventions relating to human embryonic stem cells (ES cells) from patentability has sparked a heated debate in the bioscience, ethics and law communities...
09 January 2012 - by Rachel Lloyd 
I was slightly sceptical when I read the back cover description of Charles Foster's book, 'Human Dignity in Bioethics and Law'. It seemed to be promising so much, namely that Foster was set to challenge the very basis of my bioethical understanding by arguing an alternative to the four principles of Beauchamp and Childress. It was with trepidation that I opened the front cover....
05 December 2011 - by Professor Barbara Prainsack and Dr Alena Buyx 
What do research biobanks, social media and the NHS have in common?...



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