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Issue 868 (12 September 2016)


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




Shortage of organs for transplantation – is more research on human–animal chimeras the right approach?

12 September 2016

By Dr Silvia Camporesi and Giulia Cavaliere

Department of Global Health & Social Medicine, King's College London

Appeared in BioNews 868

It is time to discuss, once again, the lifting of a moratorium on research. We are not talking about the CRISPR genome-editing moratorium, but about the 20 August announcement by the US National Institutes of Health (NIH) to lift the moratorium on research involving chimeric human/non-human embryos (see BioNews 863). The use of federal funds for this kind of research had been previously banned by the NIH in September 2015.

Although it does not state it explicitly, the NIH announcement seems to have been triggered by Harvard professor George Church's research on growing humanised organ models in non-human animals, namely pigs.

Insoo Hyun, a bioethicist at the Case Western Reserve School of Medicine in Cleveland, Ohio, followed with a perspective piece in PLOS Biology, stating that the benefits of this kind of research are so great that we should no longer hesitate to fund it. He addresses traditional concerns in animal ethics, such as safety, the moral status of the non-human animal (in this case, the human/non-human chimera) and the exploitation of non-human animals in research.

We agree with his precautionary stance, which is consistent with the existing ethical standards for chimera research developed by the International Society for Stem Cell Research in 2007 and which has more emphasis on animal welfare than on speculative concerns about moral humanisation of the human/non-human animal chimera.

Ultimately, we find that Hyun's conclusions that 'most, if not all, of these [traditional] concerns can be reasonably addressed' are plausible. However, Hyun fails to address the elephant in the room: why should we invest significant resources in the creation of humanised animal models in the first place?

Let's take a look at the two main assumptions in Hyun's piece.

First assumption

'The shortage of human organs for donation is a pressing problem worldwide ... The humanitarian importance of this research is both apparent and urgent. There is currently a dire shortage of organs for transplantation in the United States, leading to approximately 22 deaths per day among patients waiting for organs.' 

Hyun is right about the numbers, but we believe that the urgency of the research is not by any means self-evident. What he fails to examine is whether the creation of humanised animal models is the best way to address this pressing matter, and he fails to acknowledge the existence of viable alternatives, such as opt-out policies to increase organ donation from human to human. One notable example is Austria, which has a more than 90 percent organ donation rate; a similar law was approved in Wales in December 2015.

Second assumption

'Given the noble aims of this research, it is puzzling to some why the NIH is so nervous about providing federal funds to researchers with a track record of success in this area.'

When put in this way, it is difficult to object to research that aims to save lives and relieve suffering. The argument goes: we have the opportunity to save lives and we should do that. If we fail to do that, we are equally morally responsible (acts and omissions are morally equivalent). Such beneficence-based arguments are common when it comes to new and emerging science and technologies, but they risk the uncritical acceptance of scientists' assumptions. In this case, the assumption is that the research has the noble aim of solving the shortage of human organs and, as long as precautionary measures are taken to ensure safety and respect for the welfare the animals, then research should be allowed to go ahead.

In the UK, any research of this kind would need a specific licence granted on a case-by-case basis from the HFEA. In 2007, two research groups in the UK (the stem cell biology laboratory directed by Dr Stephen Minger at King’s College London, and the group headed by Dr Lyle Armstrong at Newcastle) applied independently for a licence to the HFEA to carry out interspecies somatic cellular nuclear transfer for the creation of 'cybrids', which were eventually granted after a period of deliberation and public consultation.

These applications, and the research itself, were motivated by the need to create to develop patient-specific embryonic stem-cell lines through interspecies somatic cellular transfer using oocytes derived from non-human animals (rabbits or cows), to avoid the scarcity of human oocytes. According to HFEA rules, research on 'human admixed embryos' can only be conducted in vitro, and these embryos cannot be placed in non-human animals or humans. In spite of the high hopes, and of the HFEA approval, the cybrid experiments did not yield the expected results, in part because of lack of funding (see BioNews 491), and in part because another more promising technology came about – namely, iPS (induced pluripotent stem) cells, discovered by the Nobel-prize winning Japanese scientist Shinya Yamanaka in 2007 (see BioNews 476).

It remains to be seen how much funding research groups working on humanised animal models for organ transplants will be able to attract. But at these early stages of deliberation, it is important to reflect that investing in this research is a deliberate choice that will shape our collective future. By choosing to invest in this kind of research, we are actively deciding to how allocate scarce resources to address the social problem of shortage of human organs for transplants.

While we do not necessarily believe that the existence of viable alternatives should be used to ban humanised animal models outright, it is certainly a matter that deserves ethical attention. We need reflect on the fact that, by ignoring other potential solutions – or at least prematurely supporting one solution over another – we are actively privileging a medical/scientific solution over a political solution of devising and implementing policies to facilitate human-to-human transplants.

Historical reasons to be skeptical of scientific/medical solutions to social problems abound – the sterilisation of those considered a burden to society instead of investing in disability accommodations; the widespread use of Ritalin and Adderall to manage unruly children in schools instead of investing more resources in education; the use of expensive pharmaceutical solutions to epidemics in low-income countries that could be solved with basic public health measures. What we need is further critical reflection. Technical feasibility alone should never drive a change in law and policy.



14 August 2017 - by Cara Foley 
Ancient viral genes have been eliminated from pigs using the genome editing tool CRISPR, according to research...
30 January 2017 - by Arit Udoh 
Insulin-producing cells from pancreases grown in rats can cure diabetes when transplanted into mice, according to a study...
19 December 2016 - by Giulia Cavaliere 
It's not enough to just talk about the benefits of extending the 14-day rule, we must also consider the views of those who believe that human embyros are persons...

30 November 2015 - by Dr Silvia Camporesi and Dr Lara Marks 
It is important to engage the public in the debate about genome editing as early as possible, and in a way that is as open as possible, to make sure that all possible voices are included...
12 October 2015 - by Dr Silvia Camporesi and Dr Lara Marks 
The UNESCO International Bioethics Committee has released a statement reaffirming an earlier moratorium called by a group of US scientists on the use of CRISPR/Cas9 in human embryos. We argue that the current framing of the debate in terms of dystopic or imagined futures is too narrow and constrains the boundaries of the debate to germline applications...
27 April 2015 - by Dr Ross Cloney 
The image of eugenics often portrayed in the media is reminiscent of the horrors of the early to middle 20th century. Legions of identical blond-haired, blue-eyed ubermenschen, backed by an authoritarian state with no room for diversity or difference. In 'From Bench to Bedside, to Track and Field: the context of enhancement and its ethical relevance', Silvia Camporesi demolishes that image...


Women freeze eggs to find the right partner

12 September 2016

By Sophie Perry

Appeared in BioNews 868

A study of women opting to freeze their eggs for non-medical reasons has revealed that the most common motivation given was not yet finding the right partner.

Kylie Baldwin, a researcher at De Montfort University in Leicester, interviewed 31 heterosexual women from the UK, US and Norway, aged between 32 and 44, who had decided to freeze their eggs, asking their reasons for doing so. Contrary to some of the perceptions that surround 'social' egg freezing, the results showed that not one of the participants said that they had opted to freeze their eggs for career reasons.

Presenting the findings at the British Science Festival, Baldwin explained that for these women 'it was about finding the right potential father for their child – a male partner who was committed to parenthood, who was going to perform that role of the hands-on father and would share ... the pleasures and pains of upbringing equally.'

The ability to freeze women's eggs was initially introduced for female cancer patients who ran the risk of losing their fertility during treatment. However, the technique is now being co-opted, with women across the UK choosing to do so for non-medical reasons. This trend is increasing continually, with 816 women choosing to freeze eggs in 2014 compared to just 29 in 2001, according to the most recent data (reported in BioNews 845).

However, there remain risks associated with egg freezing. Evidence suggests many women don't freeze their eggs until their fertility has already begun to decline more sharply (the average age at women freeze their eggs is 38), and this – paired with the difficulties of pregnancy later in life – means that women who have invested in freezing their eggs won't always achieve a successful pregnancy. Since 2001, 3676 British women have frozen their eggs, but fewer than 60 babies have been born to them.

Professor Robert Winston, chairman of the Genesis Research Trust, explains that many women who use this technology still have 'very little practical chance of a baby in most instances'.

Commenting on the latest study, Professor Emily Jackson at the London School of Economics told the Guardian that the results were consistent with other data emerging on egg freezing, but that it did not mean egg freezing is 'not entirely unrelated to work, in the sense that the reason why one might find oneself 38 and single might have something to do with what career conditions were like in one's 20s'.

Professor Jackson also points out that the ten-year statutory time limit on egg storage, which she has recently called on to be abolished (see also BioNews 868), means that while storing eggs earlier might be clinically sensible, they may not be available for use later on in life.

Baldwin also added that 'it is quite dangerous to start suggesting that by medicalising a social problem we can cure it.'

'If you've not met your partner, you've not met your partner, but I think it is a really bad message to give out that actually now we can get round this by egg freezing, because the majority of those women will still not have a baby,' she said.


17 July 2017 - by Dr Rosie Gilchrist 
Freezing ovarian tissue may provide a viable option for women who want to preserve their fertility, according to a recent study...
03 April 2017 - by Jamie Rickman 
Can egg freezing be considered a feminist technology? Should we really be addressing the failures of a social fabric that requires women to preserve their fertility at all? This event was an exciting opening to an urgently needed discussion and is the first in a series of 'fertile conversations' that should be eagerly anticipated...
31 October 2016 - by Sarah Norcross 
The Progress Educational Trust's event on preserving fertility was held in Edinburgh on 25 October...
24 October 2016 - by Dr Rachel Brown 
The World Health Organisation is considering making changes to the definition of infertility to recognise that every individual has the 'right to reproduce'...

04 April 2016 - by Antony Blackburn-Starza 
Pregnancy and live birth rates following IVF have continued to increase as the multiple-birth rate declines, according to the latest figures released by the HFEA...
08 February 2016 - by Dr Linda Wijlaars 
The US Department of Defense will offer to pay for active service members to have their sperm or eggs frozen in an effort to retain troops...
18 November 2014 - by Siobhan Chan 
By 2050, most women will opt to conceive through IVF using cryopreserved eggs and sperm, meaning that sex will become 'purely recreational', an eminent scientist has claimed...
20 October 2014 - by Antony Blackburn-Starza 
Apple and Facebook have acknowledged that they are offering their employees in the USA egg cryopreservation services for non-medical reasons in a move that has divided public opinion...


Study brings sickle-cell gene therapy one step closer

12 September 2016

By Dr Nicoletta Charolidi

Appeared in BioNews 868

A genetically engineered virus that triggers the production of an alternative form of haemoglobin has reversed the symptoms of sickle cell disease in mice.

Researchers believe that they have jumped the final hurdle and will now gain approval for a clinical gene therapy trial that could begin early next year.

Sickle cell disease is caused by a mutation in the gene that makes haemoglobin, the protein that carries oxygen in red blood cells, causing the cells to become stiff and sickle-shaped. This leads to anaemia as well as pain and tissue damage.

However, it was discovered in the 1980s that people with a second mutation – in the BCL11A gene – are unaffected by sickle cell disease. It turns out BCL11A acts as a switch, turning off the fetal haemoglobin that is used to get oxygen via maternal blood in the placenta, and turning on adult (beta) haemoglobin. Only adult haemoglobin is affected by the sickle cell mutation, and people are able to function normally with fetal haemoglobin in their blood.

Using this insight, researchers at the Dana-Farber/Boston Children's Cancer and Blood Disorders Center in Boston, Massachusetts, genetically engineered a harmless virus to create blood stem cells that had their BCL11A gene suppressed. The blood cells produced 80 percent fetal haemoglobin – well in excess of the 50 percent they were hoping for and which would avoid sickle cell symptoms. When they transplanted these modified cells back into mice with sickle cell disease, it reversed their symptoms.

They performed the same gene therapy technique on blood from four sickle cell patients and achieved the same level of fetal haemoglobin.

'The tendency for a red blood cell to sickle is proportional to how much non-sickling versus sickling hemoglobin it has,' said Dr David Williams, president of Dana-Farber/Boston Children's Center the senior author of the study, which was published in the Journal of Clinical Investigation. 'BCL11A represses fetal hemoglobin, which does not lead to sickling, and also activates beta hemoglobin, which is affected by the sickle-cell mutation. So when you knock BCL11A down, you simultaneously increase fetal hemoglobin and repress sickling hemoglobin, which is why we think this is the best approach to gene therapy in sickle cell disease.'

The team first tried silencing the BCL11A gene in mice red blood cells in 2011, but they discovered that switching off the gene had a secondary effect of preventing blood stem cells from grafting onto bone marrow (see BioNews 629). In this new study they inserted the virus into precursor blood cells, which avoided this problem.

Following this successful study, the team expect to get approval from the US Food and Drug Administration next month to begin a clinical trial for sickle cell gene therapy in early 2017. They also believe that this approach could be beneficial for other blood diseases, such as beta-thalassaemia.

Eurekalert (press release) | 06 September 2016
Genetic Engineering and Biotechnology News | 07 September 2016
Harvard Gazette | 06 September 2016
STAT | 07 September 2016
Journal of Clinical Investigation | 06 September 2016


06 March 2017 - by Ayala Ochert 
A teenage boy in France appears to have been cured of sickle cell disease using a gene therapy. He has been free of all signs of the disease for 15 months...
14 November 2016 - by Sarah Gregory 
Researchers have had further success using the CRISPR/Cas9 genome-editing technique to repair the mutation that causes sickle-cell anaemia...
17 October 2016 - by Sarah Gregory 
Researchers have used the CRISPR/Cas9 genome-editing technique to correct the mutation that causes sickle-cell anaemia...

03 May 2016 - by Sarah Gregory 
A trial of gene therapy for choroideremia, a rare form of inherited blindness, has partially restored the vision of several patients...
11 April 2016 - by Rebecca Carr 
A gene therapy for children with a rare but life-threatening genetic disorder that severely weakens the immune system has been recommended for approval by the European Medicines Agency...
14 December 2015 - by Dr James Heather 
Two patients enrolled in a clinical trial of a gene therapy to treat severe congenital immunodeficiency have shown signs of substantial improvement in their condition...
27 April 2015 - by Isobel Steer 
Six boys with the inherited immune disorder Wiskott-Aldrich Syndrome (WAS) have been successfully treated with a gene-therapy technique that harnesses a 'tamed' HIV virus...
17 October 2011 - by Mehmet Fidanboylu 
The blood condition sickle cell disease may be reversed by turning off a single gene, according to scientists in the USA. By inactivating a single gene in red blood cells the researchers were able to alleviate symptoms of the disease in mice, offering the hope of a potential new treatment for humans...


Ten-year egg-freezing limit should be changed

12 September 2016

By Dr Rachel Brown

Appeared in BioNews 868

Following the increase in 'social' egg freezing, the ten-year time limit on the storage of human eggs should be removed, according to a leading academic at the London School of Economics.

The UK's Human Fertilisation and Embryology Act 1990, updated in 2008, allows eggs to be stored for up to ten years. The limit was originally introduced because the effects of longer-term storage were unknown, and extensions are only allowed for medical reasons such as those undergoing premature infertility.

Yet following the development of a new fast-freezing technique known as vitrification, many fertility clinics are now beginning to offer women the option of 'social' egg freezing, which allows women to freeze their eggs as a way to delay motherhood until a later age, when becoming pregnant becomes harder due to the natural age-related decline in fertility.

However, after examining the implications of the statutory time limit in the context of social egg freezing, Professor Emily Jackson of the LSE's Department of Law believes that it is no longer fit for purpose and may in fact have unintended consequences for women choosing to undergo social egg freezing.

The success of IVF is broadly related to the age of the egg as opposed to the age of the women. Therefore, if a woman freezes her eggs at the optimal clinical time – in her early 20s, before her fertility starts to decline – IVF using her own frozen eggs will be more likely to work into her late 30s and 40s, an age where many women now wish to start their family.

However, Professor Jackson argues that the ten-year limit on egg storage means that women would be ill advised to freeze eggs at this optimal time as they would be need to be destroyed before they are likely to want or benefit from using them.

Crucially, women who experience the normal age-related decline in their fertility are not 'prematurely infertile', and are therefore not eligible for an extension to the ten-year storage period. Therefore, according to Professor Jackson the storage limit 'represents an interference with her right to respect for her family life, which is neither necessary nor proportionate'.

In her paper, published in the Journal of Medical Ethics, Professor Jackson goes on to argue that the ten-year limit is no longer required on safety grounds, and is only maintained so that clinics are not obliged to store eggs indefinitely. 

She instead suggests that the introduction of rolling time-limited extensions would be a fairer alternative.

Professor Jackson concludes her paper by saying: 'Because social egg freezing is in its infancy, we do not know what practical impact the ten-year time limit will have upon women who have frozen their eggs. If a woman has three years of storage left, at what point should she give up on meeting a suitable partner and attempt IVF with donor sperm, for example? It seems likely that women faced with the imminent destruction of their eggs will feel under pressure to use their eggs before time runs out for them, ironically perhaps creating a newly ticking non-biological clock.'

Looking to the future, she has also called for more research into 'how the ten-year time limit shapes women's decisions about the freezing and subsequent use of their eggs'.

Journal of Medical Ethics | 23 September 2016
LSE | 08 September 2016


03 April 2017 - by Jamie Rickman 
Can egg freezing be considered a feminist technology? Should we really be addressing the failures of a social fabric that requires women to preserve their fertility at all? This event was an exciting opening to an urgently needed discussion and is the first in a series of 'fertile conversations' that should be eagerly anticipated...
31 October 2016 - by Sarah Norcross 
The Progress Educational Trust's event on preserving fertility was held in Edinburgh on 25 October...
30 September 2016 - by Dr Linda Wijlaars 
Twelve families in South Australia have lost embryos after a power outage compromised the incubators that the embryos were being stored in...

04 April 2016 - by Antony Blackburn-Starza 
Pregnancy and live birth rates following IVF have continued to increase as the multiple-birth rate declines, according to the latest figures released by the HFEA...
18 November 2014 - by Siobhan Chan 
By 2050, most women will opt to conceive through IVF using cryopreserved eggs and sperm, meaning that sex will become 'purely recreational', an eminent scientist has claimed...
23 April 2012 - by Dr Marianne Kennedy 
Women may soon be given the option of banking their ovarian tissue if a new clinic to offer the procedure opens in the UK. The technique allows women to freeze ovarian tissue containing eggs to use at a later date and could assist cancer patients and other women who hope to have children later in life....
12 July 2010 - by Dr Tamara Hirsch 
More than half of US fertility clinics are now prepared to 'freeze' eggs, a new study has revealed. This option was traditionally reserved for women undergoing cancer therapy or for other medical reasons...


Research towards a developing a synthetic ovary

12 September 2016

By Dr Katie Howe

Appeared in BioNews 868

Researchers in Belgium have taken the first steps towards producing a transplantable artificial ovary after demonstrating successful follicle survival in mice.

The new technique could in the future offer cancer patients who have had their fertility affected by chemotherapy, and who have not stored their eggs, an alternative to ovarian tissue freezing, which presents a risk of reintroducing cancerous cells when the tissue is reimplanted.  

To develop the synthetic ovary, researchers at the Catholic University of Louvain isolated egg-producing follicles from frozen human ovarian tissue and encapsulated them in a protective casing made out of fibrin – a tough scaffolding protein that is normally found in blood clots.  

The synthetic ovaries were then transplanted into the abdominal cavities of mice. After a week, the researchers found that about 20 percent of the follicles were still alive and appeared to be growing healthily. This survival rate is similar to that seen after transplantation of frozen ovarian tissue (a technique that has resulted in more than 60 live births), suggesting that the artificial ovary technique could hold promise.

Lead author of the study, Dr Christiani Amorim, told New Scientist that their results 'look very encouraging'. However, it is not yet known if the follicles in artificial ovaries are capable of being fertilised and leading to live births.

So far the study has only taken place in mice, and the technique will need to be developed further before it could be applied to humans. The researchers will need to test whether the artificial ovaries can survive for longer periods of time after transplantation. More work is also needed to find the optimal chemical composition and rigidity for the protective fibrin case.

'The progress of this work is fascinating, but it is still an open question whether it will be successful,' said Professor Michael von Wolff of the Women's University Hospital in Bern, Switzerland, who was not involved in the study. 'We don't know if an artificial ovary would be as effective as ovary freezing,' he added.

As well as helping female cancer patients, the technique could also benefit women with endometriosis or who have undergone premature menopause. 

Professor Claus Andersen, a reproductive physiologist at the University Hospital of Copenhagen, Denmark, told New Scientist: 'When fully developed this technology may be used in women who want to delay having babies for social reasons, or who want to postpone the menopause.'

The results were published in the journal Reproductive Biomedicine Online.


22 May 2017 - by Anna Leida 
Fully functional 3D-printed ovaries have been successfully implanted in mice for the first time - enabling them to have offspring...
03 April 2017 - by Caroline Casey 
Researchers in the US have replicated the female reproductive tract using a 3D model that mimics the natural menstrual cycle...
06 March 2017 - by Anna Leida 
Stem cells from an adult mouse have been used to grow a structure resembling a mouse embryo in vitro for the first time...
16 January 2017 - by Annabel Slater 
Three US experts say public conversation should begin now on the ethical challenges raised by a new fertility technology that could reprogram any human cell into eggs and sperm...
09 January 2017 - by Paul Waldron 
Researchers in the US and China have developed a 'synthetic stem cell' that can repair tissue damaged by a heart attack...

21 September 2015 - by Lubna Ahmed 
French researchers have described a technique to produce human sperm cells in the laboratory as they attempt to patent the method...
29 June 2015 - by Dr James Heather 
The NHS has announced that it plans to begin testing laboratory-produced blood in healthy volunteers by 2017...
18 May 2015 - by Lubna Ahmed 
A French company claims to have grown human sperm cells in a laboratory for the first time....
26 August 2014 - by Dr James Heather 
Researchers from the MRC Centre for Regenerative Medicine in Edinburgh, UK, have for the first time produced complete working organs from genetically 'reprogrammed' cells. Engineered cells were inserted into adult mice, where they grew into what appeared to be functional thymuses....


FDA warns against ovarian cancer screening tests

12 September 2016

By Anastassia Bolotkova

Appeared in BioNews 868

The US Food and Drug Administration (FDA) has warned that it does not recommend the use of any currently available ovarian cancer screening tests to detect the disease.  

In a recently issued safety communication to both medical professionals and the general public, the FDA cautioned that such screening tests are unreliable and may generate false-positive or false-negative results. This may lead to unnecessary follow-ups and medical treatment for some women, or delay effective treatment for women who do have ovarian cancer.

'Despite extensive research and published studies, there are currently no screening tests for ovarian cancer that are sensitive enough to reliably screen for ovarian cancer without a high number of inaccurate results,' the FDA concluded, after reviewing available clinical data and recommendations from healthcare professional societies and the US Preventative Service Task Force.

Several companies have developed and marketed screening tests for ovarian cancer. The most widely used test aims to detect levels of CA 125 protein in the blood as certain cancers, including ovarian cancer, can cause an increase of CA 125. One such test, ROCA, produced by the pharmaceutical company Abcodia, has been approved for use in five US states. However, such tests are unreliable as many other non-tumour related diseases can also increase levels of CA 125.

The FDA announcement was welcomed by the Ovarian Cancer Research Fund Alliance. 'From what we know anecdotally, in spite of the fact that CA 125 isn't really meant to be used that way, many women who are concerned about the risk of ovarian cancer are getting the test every year,' said Sarah DeFeo, vice-president of scientific affairs for the alliance.

The FDA warns that use of such tests can lead to people receiving a false-positive result, suggesting the presence of cancer when it is not there. As a result, women may undergo unnecessary screening, treatment or surgery. Alternatively, women who do have ovarian cancer may receive a false-negative result indicating absence of cancer, which could result in delayed treatment. This is especially problematic for women who have no symptoms but who are at higher risk of developing ovarian cancer, including women who have reached menopause, who have a family history of ovarian cancer, or who possess the BRCA1 or BRCA2 gene mutations.

In the US, ovarian cancer is the fifth most common cancer among women and it is predicted that 22,000 women will be diagnosed with the disease in 2016. Currently, FDA has not approved the use of any ovarian cancer screening test and recommends that those who are at higher risk should ask their doctor for a referral to a genetic counsellor, gynaecologic oncologist or other specialist.


03 April 2017 - by Annabel Slater 
New genes indicating risk of ovarian and brain cancer have been identified using genome-wide association studies...

18 July 2016 - by Hannah Somers 
Researchers have developed a new pathway for genetically testing ovarian cancer patients which they say will save both lives and money...
09 May 2016 - by Rachel Siden 
Adding more genes to existing multi-gene panels that test for breast and ovarian cancer risk offers little clinical benefit, a study says...
22 February 2016 - by Helen Robertson 
More than 95 percent of younger women diagnosed with early-onset breast cancer are opting for genetic testing, a study has found...
17 August 2015 - by Dr Nicoletta Charolidi 
Researchers have found that tests for multiple breast and ovarian cancer risk genes can be used to inform treatment decisions for women with personal or family history for such cancers...


CRISPR shrinks tumours in mice

12 September 2016

By Dr Özge Özkaya

Appeared in BioNews 868

Scientists from China have managed to shrink the size of tumours in mice using CRISPR/Cas9 genome-editing technology.

They used the technique to change a gene that normally promotes tumour growth into one that triggers cancer cells to die.

'[This is] a clever use of this technology to control cancer growth in mice by manipulating the expression of cancer-causing genes,' Professor Andrew Sharrocks, professor of molecular biology at the University of Manchester, who was not involved in the study, told the International Business Times.

'The really interesting aspect is that they use a system which responds to signals created by the cancer cells themselves as they grow. This then causes specific genes to switch on or off, which results in elimination of the cancer.'

'However, at this stage it is difficult to envisage how this might be applied to treating cancer in humans,' he added.

The team of researchers, led by Dr Zhiming Cai from the First Affiliated Hospital of Shenzhen University in China, modified the CRISPR/Cas9 system so that it becomes activated by a signal that normally promotes tumour growth. The activated CRISPR/Cas9 system then drives the expression of tumour suppressor genes, stopping the growth of the cancer cells.

In a separate part of the study, they used the CRISPR/Cas9 system to induce the expression of genes that trigger cell death. In both cases, when the mice were injected with cancer cells, those with the reprogrammed cells developed much smaller tumours than those who had not been treated.

The results were reported in the journal Nature Methods.

Dr Chris Lord of the Institute of Cancer Research in London, who was not involved in the research, told BBC News: 'The key to translating this technique into the clinic will be to see how specific to the tumour cell the CRISPR activation will be and how specific, in terms of genes, the CRISPR-mediated gene cutting will be.'

In a separate study published in the Journal of the National Cancer Institute, scientists at University of Dresden demonstrated that they could specifically cleave more than 80 percent of known cancer-causing mutations, without targeting healthy genes, using CRISPR/Cas9 technology.

Science Daily (press release) | 31 August 2016
Nature Methods | 05 September 2016
International Business Times | 06 September 2016
BBC News | 06 September 2016
Journal of the National Cancer Institute | 24 June 2016


26 June 2017 - by Meghna Kataria 
Eliminating the faulty protein that causes Huntingdon's disease goes some way to reversing disease progression in mice, a study has found...
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...
09 January 2017 - by Dr Özge Özkaya 
Scientists have discovered a new set of proteins that can block the CRISPR/Cas9 system...
14 November 2016 - by Dr Avi Lerner 
Jewish bioethics may help to broaden the discussion of the ethical concerns that emerge from editing the human genome...
17 October 2016 - by Sarah Gregory 
Researchers have used the CRISPR/Cas9 genome-editing technique to correct the mutation that causes sickle-cell anaemia...

25 July 2016 - by Rachel Siden 
Chinese scientists plan to start the first-ever clinical trial of CRISPR genome-editing technology in humans – on patients with lung cancer – this August...
27 June 2016 - by Rachel Reeves 
The first in-human use of the genome-editing technology CRISPR has been approved by a US federal safety board...
20 June 2016 - by Rachel Reeves 
A US federal safety board is set to review an application for the first in-human use of CRISPR/Cas9 genome-editing technology to treat cancer...
06 June 2016 - by Ayala Ochert and Amina Yonis 
The team that developed the CRISPR/Cas9 DNA-editing technique have now developed a new system that could allow RNA editing...
11 April 2016 - by James Brooks 
Scientists testing whether the CRISPR genome-editing technique could effectively kill HIV in infected cells have found that, while the approach works in most cases, it can also cement the virus's presence...


Simple blood test could be 'smoke detector' for throat cancer

12 September 2016

By Meetal Solanki

Appeared in BioNews 868

A blood test costing only £35 could help in the early diagnosis of oesophageal cancer and could be available in five years' time.

Researchers from Swansea University showcased their research into detecting pre-symptomatic cancer from mutations in red blood cells at the British Science Festival this week.

In a study of 300 people with and without signs of pre-cancer and oesophageal cancer, the researchers detected changes in the proteins on the surface of red blood cells that increased in occurrence when cancer was present.

Professor Gareth Jenkins, the study's lead, explained: 'The test can be likened to a "cancer smoke detector" because a smoke detector does not detect the presence of fire in our homes but detects its by-product – smoke.'

Healthy red blood cells contain glycoproteins (molecules made up of sugars and proteins), which are normally anchored on the surface of the cell. These are often used by cell-surface markers to 'stick' to the cell.

In oesophageal cancer, a mutation causes a loss of these glycoproteins along with the surface markers. Researchers found that through this differentiation they could detect cancer in 80 percent of the patients with the disease.

The results may be good news for people at risk of developing oesophageal cancer, for which invasive procedures such as endoscopy are often used for diagnosis. Early diagnosis could also be the difference between whether a tumour is detected early enough to be surgically removed, or the tumour becoming malignant and spreading throughout the body.

'This could have huge potential, as early diagnosis is a key factor in survival rates,' the researchers said. However, larger studies involving more patients and other cancers would need to confirm their results before clinical use.

The team will now attempt to see if pancreatic cancer can be detected in the same way.


24 April 2017 - by Meghna Kataria 
A blood test could swiftly detect gene mutations found in lung cancer, allowing faster commencement of treatment...
13 March 2017 - by Dr Loredana Guglielmi 
Researchers have developed a new blood test that can not only detect cancer at an early stage, but can also indicate where the tumour is located in the body...
19 December 2016 - by Isobel Steer 
A study has cast doubts on the reliability of 'liquid biopsies' – blood tests that detect tumour mutations and are increasingly used to guide treatment...

21 March 2016 - by Hannah Somers 
Scientists say they have been able to detect multiple diseases, including pancreatic cancer, multiple sclerosis and type 1 diabetes, by analysing fragments of DNA in the bloodstream...
14 March 2016 - by Dr Lucy Freem 
Scientists have developed a blood test that captures tumour DNA from stray cancer cells circulating in the blood and allows them to monitor genetic changes in skin cancer...
15 February 2016 - by Helen Robertson 
A blood test to diagnose common types of cancer is in development after researchers found that five forms of the disease share a telltale chemical signature...
09 November 2015 - by Ayala Ochert 
Scientists say it may be possible to track the progress of cancer – and cancer treatment – in real time from fragments of tumour DNA that are shed into the bloodstream...
14 September 2015 - by Isobel Steer 
A US startup called Pathway Genomics has launched the first commercial 'liquid biopsy' to identify cancerous mutations via a blood test...


Event Review: Gene editing – exploring the Canadian context

12 September 2016

By Professor Vardit Ravitsky, Professor Bartha Knoppers, Professor Timothy Caulfield, Professor Rosario Isasi, Erika Kleiderman, and Professor Michael Rudnicki

Université de Montréal; McGill University; University of Alberta; University of Miami; the Ottawa Hospital Research Institute; and the Stem Cell Network, Ontario

Appeared in BioNews 868

Gene editing, in particular CRISPR/Cas9 technology, is sweeping the scientific world and has been receiving ample attention from policymakers worldwide. Policy statements and academic papers regarding responsible ways of moving forward with gene editing have already been published, such as the Hinxton Group's Statement on Genome Editing Technologies and Human Germline Genetic Modification or a recent Science paper titled 'Editing policy to fit the genome'. To date, Canada has remained silent on this matter.

To address this gap, Canada's Stem Cell Network asked McGill University's Centre of Genomics and Policy to convene a workshop to discuss the Canadian context. On 31 August 2016, 21 experts on science, ethics, law and policy, as well as government observers, gathered to provide insights regarding ways to move policy forward in this complex area.

The workshop was launched with four key presentations to inform the discussion. Professor Michael Rudnicki, scientific director of the Stem Cell Network and director of the Regenerative Medicine Program at the Ottawa Hospital Research Institute, presented the science behind gene editing and CRISPR/Cas9, characterising it as a disruptive technology that creates disruptive policy circumstances. He discussed cancer treatment and somatic treatment for genetic diseases as two areas where the clinical application of gene editing appears to be the most promising. He also described current advances in germline gene editing in animals, and clarified that this research is not permissible in many countries and has not yet been done successfully in human embryos.   

Professor Tim Caulfield, Canada Research Chair in Health Law and Policy and a professor in the Faculty of Law at the University of Alberta, discussed the Canadian legal landscape. He reminded participants that the environment that drove the policy debate in Canada in the past was imbued with concerns regarding human cloning, and reflected a polarised debate that was prevalent at the time, dividing people between utopian and dystopian visions of genomics research. This led to the federal Assisted Human Reproduction Act of 2004, which includes a very broad ban on any germline genetic alteration that may be passed on to future generations. He noted that while the current debate surrounding gene editing is not as polarised as the human reproductive cloning debate was in the 1990s, there is still a growing focus on the more controversial potential uses of this technology, such as so-called 'designer babies' and concerns related to eugenics.

Dr Rosario Isasi, research assistant professor at the Department of Human Genetics and at the Institute for Bioethics and Health Policy at the University of Miami, presented the international policy landscape. She highlighted policy trends regarding gene editing and discussed lessons to be learned from the regulation of genetics research around the world. She emphasised the importance of remaining sensitive to the broader context of how policy governs research, including human biomedical research and assisted reproductive technologies. She also noted the importance of careful choice of appropriate policy tools (i.e. bans, moratoria, regulation, limitations on public funding). While laws are in effect long-term and more difficult to modify when science advances, funding moratoria are temporary in nature and easier to lift when the time is right. In many cases, any type of prohibition might be ill-suited and a more nuanced regulatory approach would be better. She thus called for attention to relevant distinctions: between different cell types (somatic, germline, stem cells); between various stages of research (pre-clinical, clinical, applied); between research objectives (medical innovation, disease prevention, modification of disease risk, therapy); and between types of risks that are being addressed (uncertainty, specific outcomes).  

Prior to the policy workshop, participants were surveyed by McGill's Centre of Genomics and Policy regarding their views on key ethical and policy questions. First, whether the current Canadian bans on 1) all germline alterations, and 2) the creation of embryos and/or gametes for research purposes, are appropriate. If not, what they would propose for Canada? Second, whether future regulation of gene editing should make distinctions between cell types, purpose or use of the technology, and types of research. In addition, whether distinctions should also encompass the types of policy instruments used and establish thresholds for the application of germline alterations (e.g. prevention of serious incurable disease versus enhancement).  

Dr Bartha Knoppers, Canada Research Chair in Law and Medicine and director of the Centre of Genomics and Policy at McGill University, presented the aggregate results of the survey, which demonstrated wide agreement among participants that current Canadian policy needs to be revisited, and that future policy should be sensitive to all the distinctions mentioned above. The rest of the workshop was consequently dedicated to a discussion of the best way forward for Canada, which raised the following points:

  1. The necessity for Canada to revisit its current policies and consider different approaches and policy tools to address the challenges and promises of gene editing. This would allow Canadians to potentially 'enjoy the benefits of scientific progress and its applications' (article 15b of the International Covenant on Economic, Social and Cultural Rights and article 27 of the Universal Declaration of Human Rights). It would also allow Canadian researchers to remain engaged in the evolution and progress of this area of research.
  2. The crucial importance of promoting a scientifically and ethically informed policy debate. Choice of policy approach should be principled and not driven by over-estimated clinical benefits (hype), uninformed reliance on scientific alternatives that lack promise, or an exaggerated focus on risk.  
  3. The importance of scientific freedom as a core principle of liberal democracies. Science should not be limited by policy without compelling reasons. Regulation, when appropriate, should remain nuanced, sensitive to relevant distinctions, as flexible as possible, and not overly prohibitive.
  4. The importance of informing and engaging the public. While a diversity of voices should be recognised and an inclusive approach to policymaking is preferable, policymakers should remain cautious regarding the use of data about public perception of emerging technologies. Evidence-based policy should not be based on surveys, but rather on an informed debate that incorporates societal and cultural values, to ensure a good fit with the broader Canadian social context.

In conclusion, participants drafted together a series of insights and suggestions for policymakers on how to move forward in the Canadian context that will soon be published in a workshop report.



08 August 2016 - by Antony Blackburn-Starza 
The US National Institutes of Health is considering lifting a ban on the funding of research to create human-animal 'chimeras' and replacing it with an ethical review process...
01 August 2016 - by Anneesa Amjad 
A survey has found that a majority of adults in the USA are worried about the potential use of genome-editing technologies to give children a reduced risk of disease...
13 June 2016 - by Rhys Baker 
Over just 30 minutes Fergus Walsh has a lot of ground to cover here without even touching on the ethical debate. Yet, while gene editing may have 'just been made simple', how we respond to these stunning advances is anything but...
18 April 2016 - by Simon Hazelwood-Smith 
This book is clearly, if not beautifully, written, and remarkably concise. If you're looking for a 'what's hot in genetics in 2016', it isn't a bad place to start...
07 December 2015 - by Dr Jane Currie 
An international summit has agreed conditions under which human genome editing, using techniques like CRISPR, should proceed...


Book Review: The Gene – An Intimate History

12 September 2016

By Sarah Gregory

Appeared in BioNews 868

The Gene: An Intimate History

By Dr Siddhartha Mukherjee

Published by Bodley Head

ISBN-10: 1847922635, ISBN-13: 978-1847922632

Buy this book from Amazon UK

'The Gene: An Intimate History' is the latest book from Pulitzer Prize-winning author Siddhartha Mukherjee. Taking a similar approach to his previous work 'The Emperor of All Maladies: A Biography of Cancer', Mukherjee interweaves his personal history with a comprehensive and extensive review of the history of genetic research. 'The Gene' is a truly impressive achievement describing how the mystery of the gene and heritability were slowly unravelled throughout the 20th century, and the groundbreaking discoveries that have brought the field of genetics to where it is today, while always questioning the implications of our ever-expanding genetic knowledge on the future of the human race.

The impetus for Mukherjee's book comes from his awareness that a shared genetic inheritance for mental illness (bipolar disorder and schizophrenia) has proliferated throughout his family – affecting uncles, aunts, cousins – and the subsequent fears that this presents for his own family. Well versed in the language of genetics and the role of genetic mutation in the development of serious illness, Mukherjee's oncological research career combined with his personal history makes 'The Gene' a true labour of love.

The first part of the book provides an in-depth history of the discovery of the gene and the nature of heritability. It starts with the theories of the Ancient Greeks but really flourishes when it approaches the modern day and the story of Gregor Mendel, the monk who discovered heritability through breeding peas with different dominant and recessive features, but whose work was largely forgotten until the turn of the 20th century. The rediscovery of Mendel's work and a surge of interest in genetics in the early part of the century led to the rise of the eugenics movement. Kick-started by Darwin's cousin Francis Galton, the development of eugenics was based around the desire to improve the quality of the British population by encouraging the breeding of those with the most favourable characteristics and the removal of the disabled, the mentally ill and the weak from the gene pool. The book details the rise of the eugenics movement in the USA, using specific examples of how suspected low intelligence destroyed three generations of one family, and its demise following the adoption of eugenics during the Nazi regime and their use of sterilisation programs and experimentation. It is this cautionary approach that runs throughout 'The Gene': groundbreaking gene research can open up many possibilities, not all of them ethically sound.

We then embark on an enthralling trawl through the history of the modern biological revolution that was post-war genetic research – a race to discover all and everything about the gene. Scientifically thorough yet totally accessible, this account details each significant step in the assimilation of knowledge about what genes are and how they work. We move from a time where genes were simply an abstract concept underlying our individual traits through to the precise knowledge of the structure, location, operationalisation and mapping of the genome.

This is a book for readers of any background, from scientists to those with simply a worldly interest in the subject matter. Mukherjee rarely descends into complex and highly technical explanations of the processes involved, yet still manages to create an informative and educational narrative. Potentially lacking in detail for some, this book is not intended as a textbook but as a fascinating overview of the basis of the human race. The consequences of each discovery are debated, bringing us right up to the modern day. The rise of new technologies and the creation of 'new' genes enabled scientists to make giant steps in genetic research, and the subsequent involvement of big business leading to the explosion of genetic research in the mid-part of the century, culminating in the mapping of the human genome in the 1990s.

'The Gene' is not just narrative, however, and by the end the reader is left with a number of moral dilemmas and questions as to where the constant breakthroughs in genetic research will take the human race. The advantages of manipulating or removing genes permanently from a gene pool for those with gene-dominant diseases such as Huntington's disease are obvious. However, Mukherjee suggests that we need to exercise caution. Despite a viable genetic basis, the role of the gene in many diseases, such as schizophrenia, is far from clear. Multiple genes may influence the onset of many disorders, but so does the environment. Our understanding of the gene–environment interaction is still limited.

Mukherjee has created a masterwork of the history of the gene and its study. In this popular science book, scientist and non-scientist readers alike will feel they have a true understanding of the history, biology and ethics of genetics.

Buy The Gene: An Intimate History from Amazon UK.




Published by the Progress Educational Trust


Public Conference
8 December 2017

Speakers include

Professor Azim Surani

Professor Magdalena Zernicka-Goetz

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Allan Pacey

Dr Sue Avery

Professor Richard Anderson

Dr Elizabeth Garner

Dr Andy Greenfield

Dr Anna Smajdor

Dr Henry Malter

Vivienne Parry

Dr Helen O'Neill

Dr César Palacios-González

Philippa Taylor

Fiona Fox

Sarah Norcross

Sandy Starr


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