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Issue 919 (25 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 www.bionews.org.uk where you can subscribe for free to receive BioNews by email in one of three formats, and search the archive of more than 6,000 articles.

 

 

CONTENTS

Comment

News Digest

Reviews

 


 

Top of the Lake may sink as a procedural, but look beneath the surface

25 September 2017

By Dr Iain Brassington

Appeared in BioNews 919

There's a moment in the final episode of this second series of Jane Campion's 'Top of the Lake' where Nicole Kidman's character Julia reminds Elizabeth Moss's character Robin, a policewoman and our protagonist, that she, Julia, is the 'real mother' of Mary (Alice Englert), the troubled and endangered young woman at the centre of the drama. Mary is adopted: Julia raised her, whereas Robin merely gestated her. An argument about exactly what it means to be a mother is not only important in the relationship between Robin and Julia: it is key to the main plot of the drama.

A body has been found washed up on a Sydney beach, and is discovered to be that of a Thai woman working in one of Sydney's legal brothels. The dead woman was pregnant when she died, but the baby is not genetically related to her; episode 2 ends with Robin's realisation that the dead woman was acting as a surrogate. What follows is a story that weaves together the rather murky worlds of the legalised sex trade and commercial surrogacy, which is illegal under New South Wales law.

Now, it's worth interjecting at this stage with the observation that, if there's one thing we learn from Top of the Lake, it's that Australian police have some very sloppy procedures and conflict-of-interest regulations. Gwendoline Christie plays Miranda, with whom Robin is partnered in the investigation; Miranda is not only having an affair with her boss, but is also trying to have a baby by surrogacy with him. Police officers investigating a case that straddles the boundary between legal and illegal surrogacy, at the behest of a commanding officer with whom they are trying to start a family by means of a legally-iffy service? Is there no oversight here? At the same time, via Puss, the none-more-sleazy pimp played by David Dencik, who has something to do with the illegal surrogacy racket and with whom Mary is besotted, the story is also very personal for Robin – just as in the first series. Again: should she really be working on this case?

Admittedly, the implausibilities of this series (or what one hopes are implausibilities, for the sake of policing standards in Australia) ought not to detain us too long. For there are deep and troubling questions that the series raises.

Return for a moment to Julia's barb towards Robin about being Mary's real mother. What is it to be a 'real' mother? Campion's writing and directing is designed to make us sympathetic to the idea that Robin has at least some kind of motherhood relationship with her biological offspring, and therefore she has rights and interests of some sort in Mary-qua-daughter. Why should this be, though? She had nothing to do with Mary's upbringing; on that front, Julia is the mother. Do genetics matter? Well, maybe – but we learn that Mary was conceived in rape; and so if a genetic relationship is what makes someone a parent in the morally rich sense, we would presumably have to accept that the rapist is just as much the father as Robin is the mother, with all the attendant rights. That seems a touch hard to swallow.

What's left to underpin motherhood is gestation. But if gestation is the key to 'full' motherhood, what are we to say about the Thai women in the brothel acting as surrogates for middle-class Aussies? Australian law – and English law, for that matter – treats the gestatrix as the mother, and surrogacy contracts are not enforceable. If gestation is what ties Robin to Mary (and what is missing between Julia and Mary), then we have to conclude that the Thai women are the real mothers of the children they are carrying, and the commissioning couples are irrelevant – irrelevant dupes, in fact, since the contracts giving them the rights to the children are not enforceable.

Maybe the commissioning couples are parents because they tick two of three boxes: they've not gestated any children, but they provided DNA, and will provide a home. Is that how we decide that someone's a mother? Are all three equally important? If not, what's the scale by which we should compare them? (And what, while we’re at it, makes someone a father? There's only two boxes that they could ever tick, so what happens if two men tick one each? In Mary's case, one box is ticked by Robin's rapist, and the other by Pyke, the man who raised her. They can't have equal claim to fatherhood, can they? And what about adoptive parents, whom we do frequently take as 'real' parents?)

Run for a moment with the idea that the mother is someone who ticks two out of three boxes. Robin, who provided DNA and a womb, is Mary's mother; Julia, who brought Mary up, isn't. Someone commissioning surrogacy ticks the DNA and the upbringing boxes. Arguably, that strengthens the moral case for surrogates to be paid – paid, that is, more than the 'reasonable expenses' permitted under Australian law – since they are providing a service in the form of reproductive labour rather than pursuing any familial ends of their own. In the series, the surrogates are prostitutes, and are paid for providing sexual labour: isn't there a parallel here, such that they should get a wage for their reproductive labour? In the final episode, for all his faults, Puss provides a kind of moral focus on this matter; to Campion's credit, we're forced to admit that, loathsome as he is, he might sometimes have a point.

A bog-standard libertarian response would be that this contributes to the argument for the legalisation of commercial surrogacy. The surrogates could then be paid legitimately, and the commissioners would be protected. But, as with many libertarian fantasies, this just doesn't stand scrutiny. For one thing, it wouldn't tell us whom we should treat as a mother; the problem of what the law should say on this won't go away. Simply removing prohibitions without putting regulations in their place won't get us far either, the absence of regulation being a recipe for, not a guard against, interminable disputes and exploitation. Legalised sex work provides plenty of examples of the way that legalisation and deregulation do not magically make everything OK, and trade on and perpetuate the subordination of women as a class. Mary is horribly manipulated – the legality of what Puss makes her think she wants to do is hardly a defence – and no one can possibly believe that the Thai women get to keep all of what they earn: they wouldn't be pretending to be students if everything was groovy. If legalisation doesn't clean up the grubby corners of the sex trade, what are the chances that it would clean up the grubby corners of surrogacy?

Finally, one has to wonder about the wider context of all this. Legal and moral problems arising from surrogacy would evaporate if we accepted that parenthood is complicated, but that it requires neither genes or gestation. If an adopted parent can be someone's 'real' parent – and they can – then there are many ways to have one's own child and to become a parent in the full sense of the word without needing surrogacy services (or, for that matter, IVF) at all; and there is correspondingly less reason for them to be made available.

So, then. Julia or Robin; Thai prostitutes trying to escape poverty, or wealthy Australians who think that they have a right to genetic offspring. Who are the real mothers in all this?

SOURCES & REFERENCES

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

02 October 2017 - by Melissa Elsworth 
Why would a woman choose to carry a baby for another person? Should money be involved? Does surrogacy exploit vulnerable women? And what other ethical issues are involved in the surrogacy process?...

13 June 2016 - by Stephen Page 
A parliamentary inquiry into surrogacy laws in Australia has just reported its recommendations, but they don't go far enough and the country is likely to remain the world's largest exporters of intended parents...
09 May 2016 - by Antony Blackburn-Starza 
A federal parliamentary committee in Australia has recommended that commercial surrogacy should remain illegal in the country, but that altruistic surrogacy should be regulated at a national level...
11 August 2014 - by Sascha Callaghan and Ainsley Newson 
The story of the baby with Down's syndrome 'abandoned' in Thailand, which has dominated the news, illustrates how the international surrogacy industry has been booming...
16 September 2008 - by Antony Blackburn-Starza 
The Victorian Parliament in Australia will soon decide to update the states laws on IVF and surrogacy when proposed new legislation is put to a conscience vote. If passed, the Assisted Reproductive Treatment Bill 2008 will improve access to assisted reproductive technologies in Victoria by removing the...


 

Male obesity linked to poorer sperm

25 September 2017

By Shaoni Bhattacharya

Appeared in BioNews 919

Men with obesity are more likely to have a poorer quality and quantity of sperm than men of a healthier weight, suggests a new study.

Having a body mass index (BMI) of higher than 30 was linked to having a lower volume of semen, sperm count, concentration, and motility, and a greater number of sperm defects, compared with men of a lower BMI.

'The health and reproductive performance of spermatozoa in obese men are more likely to be compromised both qualitatively and quantitatively,' said Dr Gottumukkala Rama Raju at the Krishna IVF Clinic in Visakhapatnam, India, and lead author of the study. 'Results from our present dataset suggest that efforts focusing on male weight loss before conception are warranted for couples seeking infertility treatment.'

The team used computer-aided sperm analysis to examine the sperm parameters of 1285 men who had attended the fertility clinic in 2016. The study was published in Andrologia.

Obese men were also found to be more likely to have low sperm counts (oligospermia) and sperm with reduced movement (asthenospermia) which can have adverse effects on fertility.

'This latest research strengthens previous findings and helps us to counsel men attending fertility clinics,' Professor Geeta Nargund, medical director of Create Fertility clinics told HuffPost UK. 'A rise in sedentary lifestyle, poor diet and lack of regular exercise are contributing to obesity in men.'

She added: 'It takes up to three months for the body to create new sperm, so to guarantee their efforts are worthwhile they should be making lifestyle changes many months ahead of time.'

According to HealthDay, the study team is now examining whether losing weight will improve the quality of sperm. Early findings seem to suggest that as men lose weight, sperm quality improves, said Dr Rama Raju.

SOURCES & REFERENCES
Medical Xpress | 20 September 2017
 
Andrologia | 19 September 2017
 
Huffington Post | 20 September 2017
 
Diabetes UK | 21 September 2017
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

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...

16 February 2015 - by Dr Charlotte Warren-Gash 
Obese female mice have lower fertility than healthy weight mice, according to a study led by researchers from the University of Adelaide in Australia...
14 April 2014 - by Amanda Jefferys 
Weight loss improves both fertility and reproductive outcomes, and weight management medications and surgery are more effective than lifestyle interventions in achieving significant weight loss. Can infertility be considered a medical condition associated with obesity?...


 

Gene therapy reverses multiple sclerosis in mice

25 September 2017

By Sarah Gregory

Appeared in BioNews 919

A novel gene therapy can reverse the symptoms and progression of disease in a mouse model of multiple sclerosis (MS).

The neurodegenerative illness is caused by the body's own immune system degrading and destroying nerve cells. US researchers have used a gene therapy approach in the livers of affected mice to produce more regulatory T-cells and reduce this autoimmune response.

'Using a clinically tested gene therapy platform, we are able to induce very specific regulatory cells that target the self-reactive cells that are responsible for causing multiple sclerosis,' said Dr Brad Hoffman at the University of Florida, College of Medicine in Gainesville, who led the study. 'Most current therapies for autoimmune diseases such as multiple sclerosis are based on general immune suppression, which has various side effects or complications.'

In MS, immune cells known as effector T-cells are thought to destroy myelin - the fatty sheath that protects nerve fibres. The study, published in Molecular Therapy, harnessed regulatory T-cells to reduce this behaviour. This approach has been shown to be safe and effective in patients with other autoimmune disorders such as type 1 diabetes, but the results are often insufficiently potent and short-lived.

To combat this issue, the researchers developed a strategy that utilised the liver's natural ability to induce immune tolerance. They injected the gene for a protein called myelin oligodendrocyte glycoprotein into the livers of mice, using a harmless virus vector; this then triggered the long-term production of regulatory T-cells.

Over seven months, symptoms were reversed in those mice that had already developed mild-to-moderate neurological deficits, and mobility restored in those with more severe symptoms such as hind-leg paralysis; by contrast, untreated mice developed neurological problems after 14 days.

'It's a very strong and potent result that we get from that treatment,' Dr Hoffman told The Gainesville Sun newspaper.

The gene therapy system alone did not fully reverse end-stage disease, however, but when combined with the immunosuppressive drug rapamycin, which allows the regulatory T-cells to proliferate, there was complete remission in the majority of the mice. And effects were long-lasting, with the mice protected from symptoms approximately 100 days later.

Though Dr Hoffman is optimistic about the potential of this approach in treating MS in humans, he cautions: 'This is done in a mouse model, and we always have to take that with a grain of salt.'

'This is a thorough and well-controlled set of experiments,' said Dr Gillies O'Bryan-Tear, from the Faculty of Pharmaceutical Medicine of the Royal College of Physicians of the United Kingdom, London. He noted that the study 'adds to the growing excitement being generated in the field of gene therapy'.

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

09 October 2017 - by Charlotte Spicer 
A new gene therapy has halted the progression of a fatal degenerative brain disease in a small study of affected boys...

04 September 2017 - by Meetal Solanki 
The world's first cancer treatment which uses a patient's own genetically modified immune cells has been approved...
31 July 2017 - by Jenny Sharpe 
A safe and effective gene therapy treating Duchenne muscular dystrophy in dogs has been demonstrated...
22 May 2017 - by Marcia Costa 
A new method combining stem cell and gene therapy with ultrasound and microbubbles has demonstrated an efficient way to heal severe bone fractures...
27 February 2017 - by Jamie Rickman 
A study has demonstrated that a new, one-off stem cell treatment for multiple sclerosis can 'freeze' progression of the disease for five years in some patients...
25 January 2016 - by Dr Lanay Griessner 
A stem cell treatment routinely used for bone and blood cancers is showing promise at reversing the effects of multiple sclerosis...


 

Older parents pass down more genetic mutations

25 September 2017

By Dr Rosie Gilchrist

Appeared in BioNews 919

Parents pass on more new genetic mutations to their children with age, and fathers pass on more than mothers, according to a study.

While mothers passed on a new mutation for every three years of age, fathers passed on a new mutation for every eight months of age. Most of these will not have any effect, yet some may contribute to genetic diseases.

'An extraordinarily large percentage of rare diseases in children are rooted in mutations that are not found in their parents,' said Dr Kári Stefánsson of deCODE genetics, the Icelandic company which carried out the study, published in Nature.

Mutations can be inherited by children if they occur in the sperm or egg cells of their parents. The researchers looked for these de novo mutations - genetic mutations in an individual that do not appear in either parent - in a comparison of the genomes of 1548 Icelanders, their parents, and for 225 individuals at least one of their children. They identified 108,778 de novo mutations overall, with about 70 per family.

New mutations occurred at higher rates as parents got older, with four times more coming from fathers than from mothers with every passing year of age.

This difference is likely because of the ways that sperm and eggs are produced. A woman is already born with all her eggs, whereas sperm are produced throughout a man's life by cell division, which can introduce errors in DNA replication.

'This is elegant work, but should come as no real surprise,' said Allan Pacey, professor of andrology at the University of Sheffield. 'We have known for many years that the risk of having a child with a medical condition of genetic origin increases noticeably with the father's age at conception. It is for this reason that there is a recommended upper age limit for sperm donors (currently 40 years) in the UK.'

As well as a difference in the number of mutations between men and women, the researchers also found a difference in the types of mutations. Those from the mother tended to be clustered together in parts of the genome.

'Although the majority of new mutations reported in this study have come from the fathers, the most striking new insights are from the extra mutations that occur in the eggs of older mothers,' said Professor Martin Taylor of the University of Edinburgh, UK. 'This new paper shows that many, and perhaps even most, of those extra mutations from older mothers occur in groups on the same DNA strand at the same time.'

'The study will be important for our understanding of human evolution and for our understanding of some rare diseases,' said Professor Pacey. 'However, for me, it simply reminds me of why we should always encourage men and women to have their children as early in their lives as possible.'

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

20 November 2017 - by Catherine Joynson 
The new 'reflex' method of antenatal screening for Down's, Edwards' and Patau's syndromes was described last week as a 'transformational advance'. It might be cheaper than other approaches, but it could come at the cost of informed choice for pregnant women and couples...

03 July 2017 - by Shaoni Bhattacharya 
The success of IVF in women under the age of 40 may be affected by the age of their male partners, suggests a US study...
13 July 2015 - by Dr Sarah Martins da Silva 
Kevin Smith should be applauded for raising awareness of men's biological clocks, but his proposal to 'genetically improve' the human population through sperm banking seems preposterous...
03 March 2014 - by Dr Barbara Kramarz 
Children born to fathers who are 45 years old or older are more likely to develop serious mental illness than children born to fathers in their early twenties, a large-scale study comparing siblings suggests...
28 August 2012 - by Helen Brooks 
Children of older fathers inherit more genetic mutations than those of younger fathers, according to Icelandic scientists....


 

First genome editing of human embryos by UK scientists

25 September 2017

By Paul Waldron

Appeared in BioNews 919

UK scientists have successfully edited the genome of human embryos to study the role of a gene key to the earliest stages of development.

Dr Kathy Niakan's team at the Francis Crick Institute, London, used CRISPR/Cas9 to deactivate a gene coding for a protein called OCT4 in zygotes. Embryos unable to produce OCT4 were much less likely to successfully develop, found the study.

'This is opening up the possibility of using a really powerful, precise genetics tool to understand gene function. We would have never gained this insight had we not really studied the function of this gene in human embryos,' said Dr Niakan.

OCT4 protein is thought to be produced when an embryo is four or eight cells in size and be involved in the implantation of the developing embryo into the wall of the uterus. 

When Dr Kathy Niakan's team eliminated OCT4 production, they discovered the embryos were much less likely to successfully form into blastocysts than control-treated embryos. Treated embryos began the process of blastocyst formation but were unable to form the different cell populations in this structure, and collapsed.

The study, published in Nature, marks the first time that the nuclear DNA of human embryos has been edited in the UK, where use of human embryos in research is tightly regulated. Dr Niakan was the first scientist licensed by the HFEA to use genome editing in this context (See BioNews 799).

The embryos used in the study were created during IVF treatment and donated by patients for research when no longer needed.

The findings of the study have implications for fertility and developmental research. Current understanding of early development comes mostly from the study of animal models, primarily mouse embryos, which are less strictly regulated. Surprisingly, however, the effects of deleting OCT4 in human embryos appeared to be different from those found in mice, with problems arising at an earlier stage than when the researchers gave the same treatment to mouse embryos.

Dr Dusko Ilic of King's College London, who was not involved with the study, said: 'This is in a way unexpected, because of the dogma that the earliest stages of development are common for all mammalian and even some non-mammalian species. The study is another proof that the findings from experimental animal models cannot be always extrapolated to humans.'

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

02 October 2017 - by Dr Rachel Brown 
A genome editing technique called 'base editing' has been used to correct the mutation causing the inherited blood disorder beta-thalassemia in human embryos...
02 October 2017 - by Sandy Starr 
What do patients and laypeople think and know about genome editing and its implications? What are the best ways for experts and others to discuss genome editing in public, so as to improve public understanding and avoid confusion? The Progress Educational Trust has set out to answer these questions, with its 'Basic Understanding of Genome Editing' project....

07 August 2017 - by Charlotte Spicer 
Scientists have published their study confirming they are the first to correct a disease-causing mutation in human embryos using genome editing...
26 September 2016 - by Anneesa Amjad 
A scientist in Sweden has become the first to edit genes in healthy human embryos...
01 February 2016 - by Ayala Ochert 
The Human Fertilisation and Embryology Authority has granted the first licence to a UK researcher to edit the genomes of human embryos...
27 April 2015 - by Ayala Ochert 
Chinese scientists report the first-ever genetic modification of human embryos using the CRISPR/Cas9 gene-editing technique, confirming rumours that these highly controversial experiments were underway...


 

Call for Australia to allow mitochondrial donation techniques

25 September 2017

By Jenny Sharpe

Appeared in BioNews 919

A campaign has been launched in Australia to overturn laws preventing couples from accessing mitochondrial donation.

The procedure, legalised in the UK in 2015 (see BioNews 826), involves conceiving a child via IVF with the genetic material of three people – two parents and one mitochondrial donor – to prevent the transmission of maternally-inherited mitochondrial diseases.

The Australian Mitochondrial Disease Foundation (AMDF) say that mitochondrial donation could prevent up to 60 Australian children a year being born with severely disabling and potentially fatal mitochondrial diseases.

The technique is currently illegal in Australia as it contravenes the Research Involving Human Embryos Act 2002 and the Prohibition of Human Cloning for Reproduction Act 2002.

'It is not human cloning by any means, but the procedures that are used overlap with that and it's clear that in Australia it would be illegal to mix the genetic material from three individuals,' said Professor David Thorburn, group leader of mitochondrial research at the Murdoch Children's Research Institute, Victoria.

The committee that last reviewed the legislation in 2011 concluded that mitochondrial donation was not 'sufficiently advanced' to warrant a change. The AMDF, alongside Professor Thornburn and other experts, believes that the science has since moved on.

'This has been rigorously reviewed scientifically and ethically, as well as from a public-perception point of view in the UK. The level of work that's been done in this area justifies a change,' said Sean Murray, chief executive of the AMDF.

The first birth resulting from mitochondrial donation occurred in Mexico last year (see BioNews 871 ). The embryo was initially developed at a fertility clinic in New York, but implantation was carried out in Mexico to avoid US federal regulations (see BioNews 895). Another birth has since been reported in Ukraine, but details of the procedure have not yet been published (see BioNews 885).

There is growing concern that Australian couples may start to go overseas to have the procedure.

'It's a great worry if things are done without any regulatory oversight,' said Professor Thornburn.

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

29 August 2017 - by Dr César Palacios-González 
Almost a year after the first live birth of a baby following a mitochondrial replacement technique procedure, the US Food and Drug Administration has sent a very strongly-worded letter to the scientist and team responsible for the event...
23 January 2017 - by Antony Blackburn-Starza 
A baby has been born in the Ukraine following the use of an experimental IVF procedure known as mitochondrial donation...
05 December 2016 - by Dr Julia Hill 
Scientists advising the HFEA have recommended that the technique of mitochondrial replacement therapy be approved for clinical use in the UK...
03 October 2016 - by Dr Julia Hill 
In a world first, the birth of a baby boy who was conceived using mitochondrial donation has been reported...
02 November 2015 - by Dr Katie Howe 
Regulations that came into force this week will enable the UK to be the first country in the world to allow the use of mitochondrial donation techniques during IVF...


 

One IVF pregnancy raises chance of second time success

25 September 2017

By Chandni Patel

Appeared in BioNews 919

Women who miscarry during their first IVF cycle still have a higher chance of a live birth with subsequent treatment, compared with women who do not get pregnant after their first round.

'Miscarriage can be a devastating experience for any couple, but especially for those who have already struggled with infertility,' said Ms Natalie Cameron, one of the research team at the University of Aberdeen. 'We hope our findings will provide reassurance to these couples as they consider their options for continuing treatment.'

In 2014, over 52,000 women in the UK underwent IVF or ICSI. The chance of a live birth with IVF treatment in the UK is 26.5 percent, however 22.3 percent of IVF pregnancies end in miscarriage. This is the first study to investigate the likelihood of live birth in women who have experienced miscarriage in their first complete IVF cycle.

The researchers studied data on 112,549 women who started IVF treatment involving fresh or frozen embryos between 1999 and 2008. In the first cycle, 25.7 percent of women experienced miscarriage, regardless of whether they had a previous live birth, and 62.3 percent had no pregnancies.

Over two additional complete cycles of IVF, women who had given birth after their first cycle had the highest likelihood of a successful live birth, at 49 percent.

Women who had miscarried following their first IVF cycle, had a 40.9 percent probability of live birth. This compared with only a 30.1 percent chance for women who had not become pregnant at all after a first round of IVF.

The researchers acknowledge their study does not take in to account other confounding effects such as history of previous miscarriage, smoking, BMI (body mass index) or ovarian reserve. However, they suggest the results could be useful for couples making a decision on whether to continue treatment after suffering a miscarriage from their first cycle of IVF.

The results were published in Human Reproduction.

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

20 November 2017 - by Dr Katie Howe 
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31 July 2017 - by Annabel Slater 
IVF success rates increase with multiple rounds...
16 January 2017 - by Rikita Patel 
A number of IVF clinics in the UK could be misleading people with their advertised success rates, a study suggests...
21 November 2016 - by Antony Blackburn-Starza 
An online calculator that can estimate the cumulative success rate of IVF over multiple cycles has been released...
18 January 2016 - by Heidi Mertes, Sjoerd Repping & Guido de Wert 
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Podcast Review: The Life Scientific - Jennifer Doudna

25 September 2017

By Rikita Patel

Appeared in BioNews 919

The Life Scientific: Jennifer Doudna

BBC Radio 4, Tuesday 19 September 2017

Presented by Professor Jim Al-Khalili

'The Life Scientific: Jennifer Doudna ', BBC Radio 4, Tuesday 19 September 2017


The new era of gene technology presents an exciting approach to treat deleterious, inherited genetic conditions. In the podcast series of The Life Scientific, presenter Professor Jim Al-Khalili of the University of Surrey talks to Professor Jennifer Doudna of the University of California, Berkeley, from her early life to her research into molecular biology, to the development of the CRISPR/Cas9 genome editing system.

'We're at a point where technologies are converging to allow scientists to do experiments and research that hasn’t been possible before,' said Professor Doudna.

As a seven-year-old growing up in Hawaii, Professor Doudna was motivated by books and ideas. In the podcast opening, she refers to reading 'The Double Helix' by Dr James Watson at the age of 13, which piqued her interest and curiosity into how the molecular structure of DNA could be uncovered experimentally. Describing science as 'fun', she explained how she focused her scientific career on understanding the fundamentals of biology, with an emphasis on revealing the basic mechanisms and functions of RNA.

Professor Doudna recalls the discovery of the bacterial defence system, CRISPR, by Spanish scientist Professor Francisco Mojica of the University of Alicante, Spain in 2000. Fascinatingly, Professor Mojica's research uncovered how bacterial cells store and save fragments of viral DNA within the CRISPR system, serving as a genetic memory bank if the same virus attacks the cell again. This led to the beginning of a new age of genome editing.

It was only when a food company, DuPont, released a 2007 publication that the potential of CRISPR technology was realised. Professor Doudna describes this as a time that changed her line of research to focus on this new and obscure technology. She describes the collaboration with Professor Emmanuelle Charpentier of the Max Planck Institute, Germany, a medical microbiologist, which led to the discovery of two crucial RNAs (crRNA and tracrRNA) found within the bacterium Streptococcus pyogenes, which guides the Cas9 protein – a molecular scissor - to cleave the DNA target.

Towards the end of the podcast, it is interesting to hear Professor Doudna's opinion about the ethical implications of the technology that her team pioneered. She shares a sense of 'growing unease' as many laboratories adopted the genome editing tool, using various types of cells from different species including mice and monkeys.

The technology could also be used in human embryo and germline cells in countries that lack stringent regulation. She describes the latter as a 'horrifying thought', as it could lead to heritable changes being passed onto future generations and paves the way to control human evolution. So far, in the UK the HFEA (Human Fertilisation and Embryology Authority) have only approved the use of CRISPR/Cas9 in embryos that are donated for research purposes (BioNews 837) within IVF clinics. While more recently, Chinese scientists have edited the cells of a normal human embryo (BioNews 892); which poses concerns around 'designer babies'.

The topic of eugenics was very briefly touched upon during the podcast. 'One of the beauties of human life is variety,' said Professor Doudna, and takes a stand against the technology being used in this way. She has currently called for a global pause on the use of the CRISPR/Cas9 system until it is deemed safe for clinical application.

In my opinion, although the system has revolutionised the way in which incurable diseases (such as cystic fibrosis) could be eradicated in the future, it certainly raises many ethical, social and regulatory challenges.

The risks of off-target DNA mutations that could lead to unwanted genetic complications (BioNews 837) must be considered, and possibly the creation of new inheritable conditions. Here, healthcare professionals including genetic counsellors would play a vital role in helping couples make an informed choice about the benefits but also risks of genome editing. However, how will informed consent be implemented when the biological changes and safety risks are transmitted to future generations?

Further, who will be able to access treatment? Will it be available for only those who can afford to pay for the technology? If so, could this potentially result in less support offered to newborns and adults with disabilities and lead to stigmatisation towards affected individuals and their families? Many questions remain unclear.

As a clinical research associate, who works to stringent global, country and site level regulations to get safe drugs to market, I have been surprised by the minimal guidelines or regulation in some countries for powerful technology. At times, the most rigorous regulations stem from tragic events, as seen in the drug industry, and hence precautions with CRISPR/Cas9 should start now and be embedded in a global regulatory framework. However, this will be challenging.

The short podcast is an interesting insight into the development of the CRISPR/Cas9 system through a joint collaboration. It is interesting to not only hear what motivated Professor Doudna at an early age to a career uncovering the basic biology of RNA, and what eventually led her to the CRISPR/Cas9 system, but also her ethical views on the new technology.

The tone of the interview set by Professor Al-Khalili is formal and the questions posed allow Professor Doudna to meander through her scientific career. Towards the last few minutes of the podcast, listeners also learn about her personal feelings on how CRISPR/Cas9 has 'profoundly' changed her life, and how it is unlikely to change back in the near future.

Verdict: a recommended podcast for those curious about the scientific life and the pioneer of CRISPR/Cas9. 

SOURCES & REFERENCES

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

21 August 2017 - by Annabel Slater 
I'm glad to see a scientist engaging so strongly in public debate about the use of technology, rather than speculating on the sidelines...
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...

 

 

Published by the Progress Educational Trust

CROSSING FRONTIERS

Public Conference
London
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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