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Issue 918 (18 September 2017)


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




Tough times should not affect access to fertility treatments in Northern Ireland

18 September 2017

By Dr Michelle Rodgers

Appeared in BioNews 918

In 1948, UK health secretary Aneurin Bevan spearheaded the creation of the National Health Service (NHS) with the aim of providing healthcare access to all, irrespective of a patient's financial situation. The objective of the new service was described as providing:

'…all medical, dental, and nursing care. Everyone-rich or poor, woman or child can use it or any part of it.'

The NHS has since become the world's largest publicly funded health service and can boast of being one of the most efficient, most egalitarian and most comprehensive health systems in the world. Clinical decision-making is guided by best evidence-based guidelines usually produced by NICE (National Institute for Health and Care Excellence).

But variation in clinical service provision means that NICE recommendations on fertility treatment are not adhered to and the NHS's core principle of 'equity of access' is undermined – and this situation is being made worse by recent cost-cutting exercises across the England.

As of last month, 13 areas of England had restricted or stopped NHS-funded IVF treatment since early 2017 (see BioNews 913). Eight further areas are discussing similar steps.

The NICE guideline states that up to three cycles of IVF or ICSI  (intracytoplasmic sperm injection) should be available to: women aged 23 – 39; those who have an identifiable cause of infertility such as blocked fallopian tubes; and those who have had more than two years of fertility problems. Women aged 40-42 who have not conceived after two years of regular, unprotected sex, should be offered once cycle of treatment.

As things stand, only Scotland complies with the guideline offering three cycles of treatment, Wales currently offers only two cycles  and Northern Ireland until recently has offered only one cycle. But now even this is in jeopardy in Northern Ireland.

The Health and Social Care Board, responsible for commissioning of health services in Northern Ireland has announced £70 million cost-cutting proposals to meet budget targets by March 2018. Belfast Health Trust, the biggest of all Northern Ireland's health trusts has been tasked with making savings of £23.6 million.

The proposals in this Trust include five months deferral of fertility treatments at the Regional Fertility Centre at Royal Victoria hospital, Belfast, which will save £0.75m. This will affect 320 people and increase waiting times from nine months to at least 14 months.

Other suggested savings include: staff cuts of agency nurses and locum doctors amounting to a saving of £1.75m; cuts to elective surgery cases saving £2.95m with a resultant delay to 2150 surgical day cases; domicilary care cuts saving £0.75m and resulting in a five-month increase in waiting times; £2.3m saving by cutting nursing home and residential home placements resulting in further 'bed-blocking'; and the deferral of high cost drug treatments for approximately six months, saving £4.5m and affecting 200 people.

These cuts are occurring against a political backdrop of a collapsed devolved government since January 2017 and health service investment that has not kept up with inflationary pressures. The Stormont impasse means that a previously planned healthcare reform agenda has not progressed. In the interim, Northern Ireland Department of Health civil servants must work within the budget available. In terms of socioeconomics, Northern Ireland has higher levels of poverty and lower wages than most of the UK and a high proportion of the workforce are public servants.

Further uncertainty will arise for healthcare in Northern Ireland if cross-border healthcare schemes are affected by a hard Brexit. This issue was raised by Ireland's Minister for Health Simon Harris, last week. Shared tertiary care arrangements with Dublin in areas, for example, including paediatric craniofacial, cardiothoracic surgery and oncology will be made more difficult post-Brexit. This will put further strain on health care budgets in Northern Ireland and increase the likelihood that services such as fertility treatments are not reinstated.

The long-held ideal of universal good quality healthcare, regardless of wealth is evidenced by the first two articles of the NHS Constitution which state as follows:

(1) The NHS provides a comprehensive service, available to all

(2) Access to NHS services is based on clinical need, not an individual's ability to pay.

It is clear that there is significant financial burden on the NHS and that cut-backs in fertility services are not taken lightly. However, infertility is a recognised disease by the World Health Organisation and the significant psychosocial effects of infertility on individuals and couples can put a greater and longer term cost pressure on the NHS.

Possible solutions to address this inequity of access across the UK include looking at the Scottish model as an example of how fertility treatment could be offered equitably and stopping the variability of funding offered by different CCGs (see BioNews 894). The potential procurement ability of several CCGs working together may lead to cost savings and subsequent reduction in the variation of IVF costs nationally.

A standard cost for IVF for NHS procurement could be set across the UK. And CCGs could work together collaboratively to increase shared knowledge and to improve decision-making especially where individual funding requests occur.

The current variation in IVF funding across the UK is contrary to the ideals of Aneurin Bevan back in 1948. This was recently echoed by Dr Simon Fishel, a leading IVF practitioner in the UK, when speaking to the Guardian newspaper in August,

'You have to treat citizens equally and this is a deliberate inequality and obfuscation...'

'If the country decides it will not fund IVF then fine, that is a decision that affects everyone...'

In terms of equity of access to reproductive care, the European Society of Human Reproduction and Embryology recommends that infertility treatment should be included within the basic health care allocation in relatively affluent societies. It is clear that Northern Ireland currently has difficult socioeconomic and political challenges, however it is still considered an affluent country and therefore its citizens should have access to infertility treatment, ideally as per recommendations by NICE.


11 December 2017 - by Hane Maung 
Infertility affects one in seven couples in the United Kingdom. Currently in England, state-funded treatment for infertility is available under the NHS, although availability varies across different local clinical commissioning groups. Depending on the kind of infertility, treatment may include medical interventions, surgical procedures, and assisted reproductive technologies...
23 October 2017 - by Dr Michelle Rodgers 
Equity and access are among the most urgent issues for medically assisted reproduction. According to Ireland's Health Research Board, across Europe six countries offer full public funding, and 19 countries offer partial public funding...
16 October 2017 - by Jennifer Willows 
IVF services in Northern Ireland have had a reprieve, but cuts will go ahead in parts of Hertfordshire...


What does consent mean for Generation Genome?

18 September 2017

By Professor Becki Bennett

Appeared in BioNews 918

Usually when we agree to medical tests or to participate in medical research we have to provide a valid consent to both. For consent to be valid it must not be coerced, it must be sufficiently informed, and the person giving consent must be able to understand what it is they are consenting to. Proceeding without this prior consent is an infringement of that individual's right to control what happens to them, of their right to respect of their autonomy, and puts the healthcare professional in danger of legal action.

These were the sorts of issues discussed at What Does Consent Mean for Generation Genome?, a public event in Manchester produced by the Progress Educational Trust in partnership with Genomics England. The event formed part of the Genomics Conversation programme of events and activities.

The 100,000 Genomes Project run by Genomics England has worked hard to ensure that rigorous consent procedures are in place for those whose genomes are being sequenced. This is especially important when one considers that, when the first 1000 participants of this project in Wessex were surveyed six months after consenting, only 10 percent recalled what they consented to in relation to additional findings.

It is clear that consent needs further investigation and discussion in this context. Genomic medicine presents unique challenges for the consent process.

Unlike specific diagnostic tests, with genetic testing and whole genome sequencing there may not be a clear idea of what exactly is being looked for or what any diagnostic findings might mean for participants. It may also be that sequencing reveals other secondary information that was not specifically looked for or consented to - once identified it might well be information that could inform the choices of the individual and their wider family, but for some it could also be unwelcome and unwanted information.

In the face of this uncertainty, how can sufficient information be provided for a valid consent? There are also further challenges in an already complicated consent process having to deal with the dual aims of individual diagnosis and continuing research. The need for robust but clear and effective consent procedures is even more urgent given that genomic medicine is likely to become a routine part of NHS healthcare for many patients soon.

This public event was chaired by Professor Bill Newman, director of the Manchester Centre for Genomic Medicine. Speakers presented contrasting perspectives on the challenges and possible solutions that genomic medicine raises for the consent process. This panel discussion lead to a fascinating and wide-ranging audience discussion of these issues, with perspectives from many different interest groups and individuals.

The first panel speaker - Professor Anneke Lucassen, leader of the Clinical Ethics and Law research group at the University of Southampton - asked the audience to consider whether trying to make consent work for genomic medicine was simply asking too much. The current consent process is fraught with difficulties that may mean valid consent is extremely difficult to achieve. Instead, should we try something more effective?

This perspective was followed by Professor Sue Hill, the NHS Chief Scientific Officer for England, who outlined the lengths that have been gone to - including lengthy consultation with an ethics committee and patients - to maximise the effectiveness of the current consent process for the 100,000 Genomes Project. She suggested the consent procedure might be improved by a separation of the clinical, research, and additional findings elements of genome sequencing. This could allow participants to be clearer about what it is they are consenting to, and to minimise any pressure participants might feel to consent to research when they are more interested in a clinical diagnosis.

Tara Clancy, a consultant genetic counsellor at the Manchester Centre for Genomic Medicine, then explored the notion of consent in more detail. She explained the complexity of different kinds of consent and their importance in clinical practice and research, and the problems that genomic medicine raises for consent processes. She argued that a different 'gist-based' thinking might be a better approach than trying to pin something down that is, by its very nature, ambiguous. She also emphasised the important role that genetic counsellors play in this kind of process.

The final panel member was Jillian Hastings Ward, chair of the Participant Panel for the 100,000 Genomes Project and mother of a child affected by an undiagnosed genetic condition. Hastings Ward was able to share the important perspective of those participating in genome sequencing. It is paramount that this is remembered throughout this process, and that participants' voices are heard.

Following the panel speakers, questions from the audience provided a valuable opportunity to widen out the debate. For instance, questions were raised about the potential problem of the participants' panel of the 100,000 Genomes Project only containing individuals who have consented to participation in the project, with the suggestion that perhaps those who did not consent should be included too. Other questions involved the scope of genome sequencing, and the identification of behavioural traits as well as medical conditions.

Some audience members focused on the problem of what might replace the existing consent process. Should we use online or mobile technology to enhance this process? Might existing opt-out or presumed consent models of consent be a solution here? Should there be a separate consent when it comes to consenting to sharing data with industry? Is the focus on consent really missing something? When it comes to screening and informing of incidental findings, should we focus on conditions that are actionable?

Others identified areas such as newborn screening, where it was suggested that there are similar challenges for the consent process. Existing consent procedures do not seems to be meeting the needs of patients and their families.

While there was no consensus on the answers to these questions, it seemed that there was consensus on an urgent need to find solutions. These solutions must be able to protect patients from the misuse of their data, and must enhance trust in the NHS and those who represent it. Perhaps the most important agreement was that participants in genomic medicine and research are, as Hastings Ward emphasised, real people. As such, solutions to problems with consent must ensure the protection of their rights, expectations and feelings.

The Progress Educational Trust would like to thank Genomics England, NHS England and the Manchester Centre for Genomic Medicine for collaborating on this event.



06 November 2017 - by Ruth Retassie 
Genetic testing for cystic fibrosis, fragile X syndrome and spinal muscular atrophy is recommended for all would-be parents by a study in Australia...
23 October 2017 - by BioNews 
This film documents the Progress Educational Trust/Genomics England event 'What Does Consent Mean for Generation Genome?', which formed part of the Genomics Conversation...
16 October 2017 - by Ryan Ross 
Since 2011, Polity Books has published a number of books in its 'Resources Series', which have focused on subjects like diamonds, oil and timber. Yet its forthcoming volume marks something of a shift, for its focus is bioinformation...


Gay couple denied surrogacy challenges Utah law

18 September 2017

By Sarah Pritchard

Appeared in BioNews 918

A married gay male couple in Utah is challenging the state's law that says couples need to prove that a woman is unable to have children before turning to surrogacy (see BioNews 297).

The couple, known only as Noel and Jon, were denied the chance to have a biological child via surrogacy in 2016, when a District Judge ruled in line with the law in Utah that indicates one of the prospective parents must be female.

The case is now being heard in the Utah Supreme Court where the couple's attorney, Edwin Wall, is arguing the law violates the US constitution on the grounds that it unfairly discriminates against gay male couples. In 2015 the US Supreme Court legalised gay unions nationally, granting same-sex couples all of the same rights as heterosexual couples.

'As written, [the state's law] creates two classes of intended parents; one class for married same-sex male couples and another class for married couples where at least one of the intended parents is female,' said Wall.

Specifically, the law says that before surrogacy is agreed, the prospective parents must prove there are serious health risks to a woman if she were to have children. Wall told the court there were two routes to a decision: Find the statute discriminatory, and so unconstitutional, or direct the courts to read the law as gender neutral, despite its references to a 'mother'.

State attorneys have elected not to appear before the Supreme Court, instead submitting a brief that states the law should be read as gender neutral. Although judges in Utah have made past rulings to allow male married couples to pursue surrogacy on this basis, Justice Thomas Lee queried whether this would be enough to settle the case, and Justice John Pearce questioned whether a law written well before the legalisation of same-sex unions could be read retroactively as neutral. 

'It's a big thing to strike down a statute on constitutional grounds,' said Justice Lee.

The case is the first of its kind to come before the Utah court, and Yale law professor Douglas NeJaime told the Salt Lake Tribune it may also be the first time any US court has considered a challenge to state surrogacy laws on grounds of sexual orientation or gender.

US News and World Report | 12 September 2017
Metro Weekly | 13 September 2017
Salt Lake Tribune | 14 September 2017
Salt Lake Tribune | 12 September 2017


04 December 2017 - by Jennifer Willows 
Of Kith and Kin is a play about surrogacy that seems to have very little to say about surrogacy...

14 August 2017 - by Julianna Photopoulos 
A number of liberal reforms to the Surrogacy Regulation Bill 2016 have been proposed by India's parliamentary Standing Committee on Health and Family Welfare...
10 July 2017 - by Jennifer Willows 
A same-sex French couple have won a partial victory in their fight to be recognised as the legal parents of their child, who was born via surrogate in the US...
30 August 2016 - by Antony Blackburn-Starza 
A same-sex male couple in South Africa has become the first set of parents in the country to have triplets who share both the fathers' DNA...
21 December 2015 - by Ayala Ochert 
The legislature in the Mexican state of Tabasco has voted to prevent foreign couples and gay men from having children via surrogacy...
27 July 2015 - by Julianna Photopoulos 
A male same-sex couple have been stuck in Thailand with their baby daughter for the past six months, after the surrogate mother refused to allow them to leave the country claiming they are not 'an ordinary couple'...


Asthma link to increased need for fertility treatment

18 September 2017

By Dr Lanay Griessner

Appeared in BioNews 918

Women with asthma are more likely to undergo fertility treatment than those without the disease, suggests new research.

Some 12 percent of pregnant women had received fertility treatment compared with only 7 percent in the control group, found the study at Hvidovre Hospital in Denmark. The findings add to increasing evidence of a relationship between asthma and fertility.

'There is a wealth of existing research linking asthma and hormones and this study adds to our knowledge on the subject,' said Dr Samantha Walker, director of research and policy at Asthma UK, who was not involved in the study.

The 744 pregnant women with asthma who gave birth at the hospital between 2007 and 2013 were each matched to three women without asthma in a control group of 2136. The results of the comparison took into account other factors that could have affected outcomes including age, body mass index, a history of smoking, previous children, and single or same sex partnership. However, the study was not able to take income, lifestyle or socioeconomic factors into account. The results were presented at the European Respiratory Society International Congress in Milan, Italy.

However, the study does not prove that asthma itself reduced fertility. Instead, the researchers suggest their findings show that improving asthma control in women may improve their chances of getting pregnant.

'We don't have the hard-core evidence, but based on what we know, it seems very likely that good asthma control will improve fertility in women with asthma by reducing the time it takes to become pregnant and, therefore, the need for fertility treatment,' said Professor Charlotte Suppli Ulrik who supervised the study at the hospital.

She added: 'However, when it comes to fertility for women, age is a crucial factor - so the message, particularly for women with asthma, is don't wait too long, as it might reduce your chances of having children.'

Professor Suppli Ulrik's team is setting up follow-up studies to further investigate a relationship between asthma and fertility including the effects of good asthma control.

Asthma remains one of the most common chronic conditions for women during their reproductive years. The causes of asthma are not completely understood and both genetic and environmental factors affect its development. In the UK alone, it is estimated that 5.4 million people are currently receiving treatment for asthma.

International Federation of Gynaecology and Obstetrics | 13 September 2017
Asthma UK | 13 September 2017
European Respiratory Society | 13 September 2017


26 October 2015 - by Dr Jane Currie 
Low-dose aspirin may increase the chances of pregnancy in certain women, according to a US study...
28 May 2014 - by Nina Chohan 
Cholesterol levels may affect how long it takes to conceive, reports a study that followed couples for one year...
18 November 2013 - by Dr Lanay Griessner 
Researchers in Denmark have found that women with asthma take longer to become pregnant compared to non-asthmatics. The results add to an emerging body of evidence showing that asthma affects fertility...
10 December 2012 - by Dr Charlotte Warren-Gash 
Children born as a result of fertility treatment are more likely to develop asthma, say scientists...


Australian court mulls woman's bid to use dead boyfriend's sperm

18 September 2017

By Shaoni Bhattacharya

Appeared in BioNews 918

An Australian court is considering whether a woman can use her dead partner's sperm to have a baby.

The case which went before the Supreme Court in Queensland on 15 September, is the first such case in the state, according to media reports.

Justice Sue Brown asked 24-year-old Ayla Cresswell and her lawyer for forbearance regarding a decision. 'I appreciate the anxiousness to have a decision in this matter, but I'm just going to have to ask you to have a bit more patience,' she told the court, according to the Courier-Mail.

Cresswell's partner Joshua Davies died suddenly in August 2016, and a court gave permission for his sperm to be harvested (see BioNews 874).

The sperm has been stored at an IVF clinic since.

Representing Cresswell, Kathryn McMillan, QC told the court that her client had the full support of her late partner's family, and would have their support in bringing up a child.

Several of Davies' friends provided affidavits to say that before his death he had expressed a wish to settle down and have children, according to ABC News.

However, Justice Brown noted that the case fell into a 'very novel area' and possibly into a jurisdictional gap.

The judge said she needed to consider if the original order allowing the sperm to be extracted was lawful, if the court had jurisdiction and, if the sperm was considered property, who was entitled to it, according to the Brisbane Times.

'This is not really something that is canvassed within our legal system to date,' she said.

'And it is a difficult issue of whether the courts' jurisdiction is in line with it, or we have the very unfortunate circumstance of a gap.'

The Progress Educational Trust (PET) is holding a free-to-attend evening event at the University of Sheffield on Tuesday 24 October 2017 entitled 'Life after Death: A Woman's Victory in Having Her Deceased Husband's Children'.

Speakers include Diane Blood (who 20 years ago won the legal right to conceive a child using the sperm of her deceased husband Stephen Blood) and Liam Blood (the son of Diane and Stephen).

Further details can be found here. Book your free place by emailing

ABC News | 15 September 2017
Sunshine Coast Daily | 15 September 2017
The Courier Mail | 15 September 2017
Brisbane Times | 15 September 2017


13 November 2017 - by BioNews 
This film documents a Progress Educational Trust/University of Sheffield event which marked 20 years since widow Diane Blood won the legal right to conceive a child using the sperm of her deceased husband...
30 October 2017 - by Professor Eric Blyth 
A public event held on 24 October 2017 at the University of Sheffield by the Progress Educational Trust...

19 September 2016 - by Antony Blackburn-Starza 
The Human Fertilisation and Embryology Authority has allowed a woman wanting to conceive using her dead daughter's eggs to export them to the US for treatment...
04 July 2016 - by Emma Nottingham 
The case of Samantha Jeffries - a widow who is trying to save the embryos she created with her husband before his death - holds lessons both for fertility clinics and for the HFEA...
13 June 2016 - by James Brooks 
A Spanish woman has been allowed to have her dead husband's cryopreserved sperm transported from France to Spain despite a French ban on the exportation of gametes for posthumous insemination...
07 January 2013 - by Jessica Ware 
A Western Australian judge has granted a newly widowed woman the right to retrieve sperm from her dead husband, although a further court order will be required before it can be used for any purpose....
31 May 2011 - by MacKenna Roberts 
A widow has been granted possession of her late husband's sperm in an 'exceptional' Australian court ruling last week...


Environmental chemicals affect sperm epigenetics

18 September 2017

By Dr Kimberley Bryon-Dodd

Appeared in BioNews 918

A type of chemical found in various personal beauty products and plastics may affect sperm and lower reproductive success, according to a new study.

Researchers have linked significant amounts of phthalates in male urine samples with epigenetic changes in the DNA of the subjects' sperm.

'There has always been this heavy concern in the past with expectant mums not smoking and not drinking, for example, to protect the fetus,' said lead author Dr Richard Pilsner of the University of Massachusetts Amherst, USA. 'In this study, we see that dad's environmental health contributes to reproductive success.'

Phthalates, used in products ranging from shaving cream to food packaging, are estimated to be detectable in nearly 100 percent of the US population. They have been associated with lower sperm concentration and movement, and increased sperm cell DNA damage and death.

The small study examined the urine of 48 men from couples attending the IVF clinic at Baystate Medical Centre, Massachusetts for eight different phthalate concentrations. They also analysed DNA extracted from sperm, taken on the same day, for epigenetic changes in regions of the genome.

Semen samples from men with higher urinary concentrations of phthalate metabolites were associated with a methylation on 131 regions of sperm DNA. The researchers found many of these regions affected the function of genes related to growth, development and 'basic cellular function', and some were also associated with poorer quality of blastocysts.

Dr Pilsner said: 'For sperm to mature is a 72-day process, almost three months, and our study shows that this preconception time-period may represent an important developmental window by which environmental exposures may influence sperm epigenetics, and in turn, early life development. So in the same way mum needs to be careful, dad also needs to.'

Coming from a small study, the findings need to be replicated and confirmed on a larger scale. Additionally as all of the men were recruited from an IVF clinic, the findings may not apply to the wider population.

Professor Allan Pacey of the University of Sheffield in the UK said the small study should be interpreted with caution, as 'the results only describe an association and not cause and effect'.

'Therefore, men currently undergoing IVF with their partners should not panic as it is very difficult to make any firm conclusions from this data. However, they should concentrate on being as healthy as possible by not smoking cigarettes (a much bigger epigenetic hazard in my view) and eating a sensible diet, with five portions of fruit and vegetables per day (paternal diet has been implicated as important in sperm DNA methylation).'

The study was published in Human Reproduction.


27 November 2017 - by Dr Rosie Gilchrist 
Men living in areas with higher air pollution are also more likely to have a higher proportion of abnormally shaped sperm...
23 October 2017 - by Taqdeer Sidhu 
Sleep duration is associated with sperm integrity, according to a recent study in China...
16 October 2017 - by Annabel Slater 
An expert in male fertility has called for urgent research into the stark decline reported in Western sperm counts...
09 October 2017 - by Shaoni Bhattacharya 
Researchers hope that a study detailing the four stages of human sperm stem cell development may shed light on infertility and certain cancers...

31 October 2016 - by Dr Ashley Cartwright 
The US start-up Episona has produced an epigenetic sperm test, which it claims can determine whether sperm will produce 'good' or 'poor' quality embryos...
31 August 2010 - by Dr Marianne Kennedy 
Research carried out at the University of Pennsylvania School of Medicine suggests that the packaging of DNA affects the production of sperm and could explain some cases of male infertility....


Cancer mutations explored using organoids and CRISPR

18 September 2017

By Dr Molly Godfrey

Appeared in BioNews 918

Organoids and CRISPR/Cas9 have been combined in a novel method to study genetic mutations occurring in cancer.

Researchers applied the method to investigate the function of commonly mutated DNA repair genes in the development of colon and breast cancer.

'Within these organoids, we have disabled a single gene using CRISPR/Cas9. This gene normally prevents the accumulation of mutations in the DNA and thereby counteracts colon cancer development. We have eliminated this prevention,' Dr Ruben Van Boxtel, joint first author on the study, told Drug Target Review.

Applying techniques first developed by the researcher Professor Hans Clevers, scientists can grow organoids from a range of tissues, including guts, kidneys and brains, using stem cells. By combining this with the genome editing technique CRISPR/Cas9, which can be used to accurately introduce mutations into cells, the functional effect of genetic mutations found in cancer can be examined.

In a study published in Science by the Clevers group at the Hubrecht Institute in Utrecht, the Netherlands, this combination of techniques was used to investigate the role of DNA repair genes in generating cancer-causing mutations. By individually deleting two DNA repair genes (MLH1 and NTHL1) commonly found mutated in cancer, in human colon organoids, researchers accurately replicated the patterns of mutation accumulation usually observed in, respectively, certain types of colon cancer, and a specific kind of hereditary breast cancer.

'With the help of CRISPR/Cas9 in organoids, we can perfectly mimic this mutation accumulation seen in patients,' said Dr Jarno Drost, the other joint first author.

The processes by which cancer arises and progresses leaves specific patterns or 'mutational signatures' in the DNA. Currently, about 30 different signatures have been identified in different types of cancer. The type of signature can provide information about how the cancer arises and can be used to help predict whether patients will respond to specific treatments.

Removing the gene NTHL1 in organoids closely mimicked the previously identified 'mutational signature 30', whose origin had been unclear. By going back to a patient with hereditary breast cancer in which this mutational signature had been identified, the researchers in this study found a mutation in the NTHL1 gene. This confirmed that the method can replicate what is observed in real cancers, thus paving the way for a greater use of this technique in future studies.

Organoid technology is being increasingly used for a variety of purposes in biological research. Among other applications, novel drugs can now be tested in human tissue organoids instead of animal models or patients, and personalised patient or tumour-specific organoids can be grown.


02 October 2017 - by Rachel Reeves 
New potential drug targets have been identified for cancers associated with KRAS gene mutations, which are thought to drive around 20-30 percent of all human cancers...

14 August 2017 - by Ebtehal Moussa 
Over a 100 new genes that may be essential for cancer immunotherapy to work have been identified using a new CRISPR-based screen...
08 May 2017 - by Sarah Pritchard 
Aggressive human prostate and liver tumours have been shrunk in mice by targeting a ‘fused’ gene mutation using CRISPR/Cas9...


Brain has 'genetic calendar' for ageing

18 September 2017

By Annabel Slater

Appeared in BioNews 918

A 'genetic lifespan calendar' of lifelong gene expression changes has been discovered in human and mouse brains.

The researchers also suggest the changing pattern of gene expression could be linked to the development of schizophrenia in humans.

'The discovery of this genetic programme opens up a completely new way to understand behaviour and brain diseases throughout life,' said Professor Seth Grant at the University of Edinburgh, UK.

Researchers examined how genes in the brain are turned on and off across the lifespan of mice and humans. They analysed existing data on RNA taken from brain tissue samples of different ages, to detect when regulatory changes in gene expression occurred.

'We found that actual age could be predicted by examination of an RNA sample from mouse and human brain tissue,' the team reported in the journal eLife.

Their findings indicated a regulatory genetic calendar which controls how and when different genes are expressed. In humans, they were able to map changes from development in the womb to 78 years old.

The peak of gene expression reorganisation occurred around 26 years of age in humans, and the genes affected included those associated with schizophrenia. The researchers suggest this may be why people with schizophrenia do not show symptoms until young adulthood, despite having the genetic changes linked to the condition from birth.

Most changes in gene expression were completed by middle age. Women show a slightly delayed calendar of changes compared with men. The team found the genetic calendar is also present in mice, with more rapid changes over a shorter lifespan, suggesting the calendar is shared between species of mammals.

'Many people believe our brain simply wears out as we age. But our study suggests that brain ageing is strictly controlled by our genes,' said co-author Dr Nathan Skene, also at Edinburgh.

The team suggests its research could eventually lead to therapeutic drugs that modify the genetic lifespan calendar for young adult patients with psychiatric disorders.


02 October 2017 - by Charlott Repschlager 
A gene associated with schizophrenia influences a critical stage of early brain development in mice...

20 March 2017 - by Dr Julia Hill 
Two common variants of TMEM106B and progranulin (GRN) genes have been discovered to accelerate normal brain ageing...
01 February 2016 - by Helen Robertson 
A gene involved in managing the connections between brain cells appears to be associated with an increased risk of developing schizophrenia...
14 September 2015 - by Chris Hardy 
A blood test designed to assess how well somebody is ageing could be used to predict whether or not they are likely to develop certain illnesses, like Alzheimer's disease...
02 February 2015 - by Dr Victoria Burchell 
A genetic variant may not only help some people live longer, but also changes the way their brain ages, a study suggests....


Book Review: How to Code a Human

18 September 2017

By Mikey Lebrett

Appeared in BioNews 918

How to Code a Human

By Dr Kat Arney

Published by Carlton Publishing

ISBN-10: 023300517X, ISBN-13: 978-0233005171

Buy this book from Amazon UK

Genomics may herald a bright future - for those who understand it. But what about those who do not?

'Generation Genome', the UK Chief Medical Officer's annual report released in July (see BioNews 911), depicts a future in which diseases are screened for, prevented and cured by highly tailored personalised medicine, all stemming from an increasingly sophisticated understanding of the human genome and the way in which it interacts with disease.

But what will the average patient or layperson on the street do when their GP starts discussing alleles, genome mapping and predictive genetics? How will members of the public, who may have left school decades ago, keep up with the ever-accelerating pace of genetic research which will likely have a major impact on their healthcare in the near future?

Dr Kat Arney's new book 'How to Code a Human' is a beautiful example of how complicated genetic topics can be simplified and clarified to make them understandable and enjoyable for the least-scientific of readers. While the book does not pitch itself as an introduction to genomic medicine, it does provide the basic building blocks of a good understanding of genetics, and the relevance of the concepts presented through its 17 chapters is consistently linked back to cutting-edge medical research.

Dr Arney takes the reader on a highly structured journey through genetics, beginning with the very basics of DNA and genes, and subsequently adding on layers of complexity with each chapter. The book meanders through topics including evolutionary biology, DNA damage and repair, genetic engineering and cellular molecular processes.

While some of the chapters are of a more technical nature than others, the language and style remains readable and friendly throughout. For example, in chapter three, Dr Arney manages in a truly engaging and memorable fashion to explain the importance of DNA sequences such as promoters, enhancers and smORFs (small open reading-frames) that regulate how DNA is read - a feat which many a biology textbook falls well short of. Crucially, some of the more obscure terms are defined within the text, and there is an easily navigable glossary at the back of the book. There seems to be a consistent focus on making the information as accessible as possible to the widest range of readers.

One of the techniques Dr Arney utilises most successfully throughout the book is the use of metaphors and comparisons. In the introduction, genes are compared to recipes. What elevates this metaphor from the banal to the sublime is that throughout the book it is extended and referenced, creating an instantly recognisable thematic thread which runs between the chapters. The book is replete with further creative uses of imagery: epigenetic marks are compared to sticky notes and highlighters, DNA sequences are compared to computer codes, and disease-resistant humans are dubbed 'genetic superheroes'.

Dr Arney also applies a liberal sprinkling of cute, if somewhat cringe-inducing, genetics puns and quips ('It's a Knockout', ' Pimp my Genome', 'Cycling Around'...) to serve as subsection titles and headings for little colourful boxes of extra information which break up the main text. These boxes contain stories of famous genetic discoveries, tangential yet fascinating additions to the main flow of the chapter ('Why don't elephants get cancer?'), and snapshots of the latest advances in genetic technology. The book is considerably enriched by these extra nuggets of information, which provide context, colour, and relevance to the scientific theory presented in the main text.

The main bulk of the text is also fragmented by a range of full-colour scientific diagrams to elucidate the more technical sections of the book, as well as an assortment of stock images. Many of these seem to serve as visual padding rather than important additions to the actual information in the book (look out for the full, double-page, glossy, colour stock image of an athlete sprinting). As a result, there are almost no pages of solid uninterrupted text. This can become frustrating for a more advanced reader, but certainly adds visual stimuli and interest grabbers for the casual or younger reader.

While any book which is written to simplify a complicated scientific topic will invariably have to sacrifice a certain element of nuance, Dr Arney manages to maintain a respect for the details she has decided not to include in the book. She is happy to include references to studies which have not yet produced conclusive results, for example the European COSMOS trial, which is mentioned in chapter four. This characteristic of Dr Arney's writing comes to the fore in the final few chapters of the book, when controversial topics such as genome editing, designer babies and human extinction are presented. The reader is provided the space to mull over the various competing opinions for themselves, while the author restrains herself from providing concrete conclusions at the end of each paragraph.

'How to Code a Human' is a prime example of slick science communication at its best. It is a beautifully written and artfully presented book which would be perfectly suited to a life sitting in a high school library, on a coffee table, or by the bedside of a curious reader. Perhaps more importantly though, this book represents the type of user-friendly scientific work which illuminates the world of genetics for a generation of people, for which a basic knowledge may play a crucial role in their healthcare decisions.

Buy How to Code a Human from Amazon UK.



31 July 2017 - by Cara Foley 
The broadcast by BBC World Service is split into four parts, each with an assigned 'expert witness'. The first chapter tackles 'The Language of Life', aiming to elucidate exactly what DNA, genes and genome editing are...
03 July 2017 - by Annabel Slater 
'This technology really gets the imagination going. It's almost anything that you could imagine wanting to control at the level of genetics, is now in principle within reach.' And the power to control evolution raises important questions of responsibility. This is the message of Professor Jennifer Doudna...
08 May 2017 - by Dr Avi Lerner 
The Human Genome Project, completed in April 2003, greatly improved our ability to study human health and disease. It also provided a deeper insight into our history and evolution as a species. Yet a recent episode of the 'Science Friction' radio show, presented by Natasha Mitchell on Australia’s ABC Radio, delved further into these fascinating topics through the lens of the new and emerging field of epigenetics.
06 March 2017 - by Matthew Thomas 
Dr Kat Arney leads a fascinating and wide-ranging discussion of genetic testing – from testing for cancer genes to whether your child's DNA can predict their future sporting ability...



Published by the Progress Educational Trust


Public Conference
8 December 2017

Speakers include

Professor Azim Surani

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Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

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Professor Allan Pacey

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Professor Richard Anderson

Dr Elizabeth Garner

Dr Andy Greenfield

Dr Anna Smajdor

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