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Issue 913 (14 August 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

 


 

Why the decline in sperm concentration needs research you can count on

14 August 2017

By Professor Allan Pacey

Page URL: http://www.bionews.org.uk/page_872882.asp Appeared in BioNews 913

Twenty-five years ago, I recall sitting in a journal club in which the collective minds tore apart the then recently published (and still much quoted) meta-analysis by Elizabeth Carlsen, 'Evidence for decreasing quality of semen during past 50 years'. This BMJ paper made the headlines in 1992 because it suggested that between the 1930s and early 1990s, sperm counts across the world had almost halved. Since then, several other similar meta-analyses were published (e.g. Swan et al., (2000)) with each one broadly making the same conclusion and often leading to equally scary and sensationalistic media headlines. However, many of us in the sperm-research world were troubled by these meta-analyses and the media headlines that accompanied them.

A meta-analysis is a statistical approach which combines the data from multiple (usually small) studies to increase the statistical power over and above what might be achieved from each study individually. This sounds fine in theory, but it only really works when each of the individual studies have been conducted in a similar manner – here is where the problem lies. If all the sperm count studies being compared across 50 years were performed differently, then the meta-analyses just end up comparing apples with oranges, with the danger of concluding that the answer is in fact banana! It's 'garbage in – garbage out' in other words.

Critics of the various sperm count meta-analyses published to date (of which I am one) have pointed to the fact that they have often uncritically included studies of different populations of men that are simply not comparable. For example, comparing the sperm count studies of healthy volunteers taking part in a drug trial is not the same as comparing studies of sperm donors, (who usually by definition are recruited because of their higher sperm quality) or studies of men attending fertility clinics (who you would expect to have poorer sperm quality). Therefore, if over time the mix of studies has changed (eg. more studies of men from fertility clinics in recent years), it might be concluded by the meta-analysis that sperm counts have declined, whereas in fact the conclusion just reflects the changing fashion of research publications.

However, my major criticism of the meta-analyses published so far is that none of them have considered changes in laboratory methods. Counting sperm (and calculating sperm concentration) sounds easy, but we have significantly changed our methods of doing it over the past 50 years, to the extent that it is impossible to compare with any certainty our modern measurements with historic ones (see Pacey, 2008). We know that historic (less accurate) techniques tend to over-estimate the sperm concentration. So, if more modern studies included in these meta-analyses were increasingly using better techniques, then an apparent decline in sperm concentration over time in the meta-analysis might simply reflect improvements in laboratory technique and reductions in measurement error.

For these reasons and more, I have never been particularly convinced by the conclusions that sperm counts were declining. Extraordinary claims need extraordinary evidence in my book, and the two fatal flaws I have outlined always seemed too significant to ignore. However, when I read the most recent iteration of the sperm-count meta-analysis published by Levine et al., (2017), I must admit that I changed my mind a little. This is because that authors: (a) excluded from the meta-analysis those studies which had been published on men according to their fertility status (eg. attending a fertility clinic); and perhaps more importantly for me (b) only included studies which had counted sperm according to the gold standard technique of haemocytometry. Effectively it addressed my two major concerns head on.

So, I now find myself much less sceptical than I was about the idea that the sperm counts of men may have declined in recent years. Whether this warrants the crazy media headlines about possible human extinction seems doubtful. There is a case-history here about how the media report and write headlines about science stories. But it does for me raise another important question.

If we had been serious about knowing once and for all whether sperm counts had declined or not, we wouldn't have relied on meta-analyses to answer the question. It would have been better to design a large prospective cross-sectional study many years ago, when we first became worried about a potential problem. For example, we could have each year invited men who had been randomly selected from the electoral register to donate a semen sample to the project, and measure their sperm concentration using the same reliable technique and all our modern methods of laboratory quality control. I know I am not the only person to have proposed this idea, but sadly none of the proposals were considered worthy of funding. However, had they done so 25 years ago, we'd have known the answer by now once and for all, and we wouldn't be even having this debate.

So perhaps the story is less about whether sperm counts have declined or not in recent past, but rather that we need to fund research into male fertility more seriously - and stop burying our heads in the sand.

SOURCES & REFERENCES

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

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...

07 August 2017 - by Caroline Law 
While media reports regularly remind us of women's biological clocks and warn of the dangers of women leaving it 'too late' to have children, until recently little attention has been paid to the role of men in timing when to have children, and the effect of age on male fertility...
31 July 2017 - by Dr Katie Howe 
Sperm counts of men in developed nations have fallen by 52 percent in the last 40 years...
03 July 2017 - by Lea Goetz 
New research suggests living near a road which is noisy at night-time may contribute to male infertility...
07 December 2016 - by Dr Marianne Kennedy 
Moderate exercise improves sperm quality and quantity, according to new research...

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Parliamentary panel suggests liberal reforms to India surrogacy bill

14 August 2017

By Julianna Photopoulos

Page URL: http://www.bionews.org.uk/page_872360.asp Appeared in BioNews 913

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.

Aimed to ban commercial surrogacy in India, the bill currently prohibits cohabiting couples, same-sex couples, single parents, divorced and widowed women from seeking surrogacy services in the country (see BioNews 866). Instead, only infertile couples married for at least five years may seek a 'close relative' surrogate to offer their womb without compensation.

In a detailed 88-page report presented on 10 August 2017 to the Rajya Sabha, the upper house of the Parliament of India, the 31-strong panel called the proposed legislation 'too narrow' in its eligibility criteria because it ignored contemporary social structures and circumstances.

'If all these categories are to be banned then why have surrogacy at all?' asked the committee, which is headed by Samajwadi Party leader Ram Gopal Yadav.

The committee recommended allowing surrogates to be 'adequately and reasonably compensated' and not to be dismissed 'in a paternalistic manner'.

'Pregnancy is not a one-minute job but a labour of nine months with far-reaching implications regarding [the surrogate's] health, her time and her family. In the altruistic arrangement, the commissioning couple gets a child; and doctors, lawyers, and hospitals get paid. However, the surrogate mothers are expected to practice altruism without a single penny,' said the report.

Given the risk of exploitation of poor women, the report recommends that the compensation amount should be fixed by authorities to avoid any bargaining between surrogates and couples. Arrangements should also include insurance to provide for the surrogate's healthcare after the birth, and to compensate relatives should the surrogate die.

The committee also criticised the mandatory five-year waiting period for infertile couples. It has asked for this period to be reduced to one year instead.

The proposed bill sought to ban surrogacy for all foreigners in India (see BioNews 824). The panel agreed with this but found 'no point' in restricting non-resident Indians, people of Indian origin, and foreigners married to Indian citizens.

SOURCES & REFERENCES
Times of India | 11 August 2017
 
The Telegraph India | 10 August 2017
 
HuffingtonPost India | 11 August 2017
 
DNA India | 11 August 2017
 

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04 December 2017 - by Jennifer Willows 
A remedial order has been laid before Parliament which, if passed, will give single people the same rights as couples to become the legal parents of their surrogate-born children...
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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?...
18 September 2017 - by Sarah Pritchard 
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29 August 2017 - by Taqdeer Sidhu 
Commercial surrogacy will be permanently banned in Cambodia if a new law drafted by Women's Affairs Ministry is approved...

07 August 2017 - by Jennifer Willows 
An Australian nurse has been given a prison sentence after being found guilty of running an illegal surrogacy service in Cambodia...
24 October 2016 - by Lucas Taylor 
Two US couples have filed a petition at the High Court of Bombay to reclaim embryos they transferred into the country before India's ban on international surrogacy arrangements was introduced last year...
19 September 2016 - by Rikita Patel 
The Indian foreign minister has intervened on social media in the case of a British couple who face having to leave the country without their surrogate-born child...
30 August 2016 - by Julianna Photopoulos 
The Indian government is considering a bill to ban commercial surrogacy, which will only allow Indian couples married for at least five years to use surrogacy.
19 October 2015 - by Kirsty Oswald 
India looks poised to introduce surrogacy legislation following several developments that could lead to a blanket ban on commercial surrogacy...

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Faster diagnosis hope for mitochondrial disease

14 August 2017

By Shaoni Bhattacharya

Page URL: http://www.bionews.org.uk/page_872257.asp Appeared in BioNews 913

A new approach to genetic analysis may lead to a faster way to diagnose mitochondrial disease.

A study led by Australian researchers linked mutations in a gene called MRPS34 with one of the most common childhood mitochondrial diseases, Leigh syndrome. It identified the gene using a strategy called quantitative proteomics – which can identify and compare all the proteins in a sample.

'This approach will therefore help to end the diagnostic odyssey for families with children suspected of mitochondrial and other inherited diseases,' said Professor David Thorburn, the study’s lead author at the Murdoch Children's Research Institute (MCRI) in Melbourne.

Until recently, diagnoses for mitochondrial diseases were extremely slow, with only a quarter of patients receiving one, according to the Australian Mitochondrial Disease Foundation (AMDF). It says that the advent of whole exome sequencing technology means that now two-thirds of patients get a diagnosis. 'However other approaches are needed to identify the difficult cases that continue to elude,' it said.

The researchers identified the new gene implicated in Leigh syndrome by analysing all the proteins produced by skin cells cultured from six patients compared with those from healthy volunteers.

'A key approach was using quantitative proteomics. This process involves sampling all the proteins in a cell at once to identify any problems with the cellular machinery,' said Ms Nicole Lake, a PhD student at MCRI, and study author. 'Using this technique, you get a snapshot of what’s happening in cells.'

By examining the proteins, the team found that part of the cellular machinery that mitochondria use to manufacture proteins themselves – called the 'mitoribosome' had fallen apart in patients with Leigh syndrome.

They also showed that MRPS34 was pivotal in the functioning of the mitoribosome, confirming that the gene mutations were a cause of the mitochondrial disease.

The researchers hope the approach might lead to quicker diagnoses and therefore earlier and more targeted treatments for patients with mitochondrial diseases.

The AMDF called the study an 'exciting development'. 'I'm particularly thrilled to see an outcome like this,' said Sean Murray, the foundation's CEO.

The research was published in the American Journal of Human Genetics.

SOURCES & REFERENCES
American Journal of Human Genetics | 03 August 2017
 
SBS News | 07 August 2017
 
Technology Works | 08 August 2017
 
Medical Xpress | 07 August 2017
 
Mitochondrial Disease News | 09 August 2017
 

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30 May 2017 - by Jennifer Willows 
The UK Court of Appeal has upheld the High Court's decision that an experimental treatment offered by a US doctor will not benefit ill baby Charlie Gard, and could cause significant pain and distress...
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In a world first, the birth of a baby boy who was conceived using mitochondrial donation has been reported...
20 July 2015 - by Dr Julia Hill 
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Dozens of new gene targets for cancer immunotherapy found

14 August 2017

By Ebtehal Moussa

Page URL: http://www.bionews.org.uk/page_872133.asp Appeared in BioNews 913

Over a 100 new genes that may be essential for cancer immunotherapy to work have been identified using a new CRISPR-based screen. 

Immunotherapy is a mode of treatment which uses a patient's own immune system to destroy cancer cells. IT can be highly effective for some patients, but not all.

'This is the first step for systematically identifying the reasons immunotherapy is not working for many cancer patients,' said senior author Dr Nicholas Restifo at the National Cancer Institute in Bethesda, Maryland. 'The hope is to help scientists and clinicians find a way around the obstacles so that more patients can benefit from this promising treatment modality.' 

The research, published in the journal Nature, indicates that mutations in tumour cells cause them to go unnoticed by key immune system cells called T-cells, which prevents response to immunotherapy.

Researchers created a novel 'two-cell type' CRISPR assay consisting of human melanoma cells and T-cells, to investigate how these cells interact. They used CRISPR/Cas9 to knock out single genes in the human melanoma cells in order to identify which ones create resistance to T-cells.

'We cast a wide, deep net and conducted an unbiased survey of all of the 19,000 genes in the cancer's genome - not just the genes that are known to be involved in creating immunotherapy-resistant tumours,' said Dr Restifo. 'The big surprise was that we found many new genes that we never suspected could potentially be involved in preventing the immune system from killing cancer cells.'

The 100 most necessary genes were found to affect the presence of proteins specifically found on the surface of cancer cells, known as neoantigens. These are usually recognised by T-cells and trigger the release of cytokines, proteins which modulate the body's immune response.

Next, the researchers assessed 36 different cancer types for expression of these genes, searching genetic data from nearly 11,500 tumours from the Cancer Genome Atlas database. They identified a core set of 19 genes associated with cytokine activity across different cancer types. The researchers also found mutations in these genes were more common in patients who did not respond to the drug ipilimumab, a type of immunotherapy.  

In particular, the researchers identified multiple mutations in the APLNR gene, which had previously not been linked to the effectiveness of cancer immunotherapy. When they mutated APLNR in mice, it reduced the efficacy of immunotherapy.

Dr Restifo told Genetic Engineering and Biotechnology News that he hoped the findings could act as a 'blueprint' for further research into cancer therapies that hinge on T-cell attack. 'Looking at mutations in these genes in individual patients who failed immunotherapy may enable physicians to devise the most appropriate treatments for each individual patient, according to their essential gene profiles,' he said.

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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...
18 September 2017 - by Dr Molly Godfrey 
Organoids and CRISPR/Cas9 have been combined in a novel method to study genetic mutations occurring in cancer...
21 August 2017 - by Marcia Costa 
Genes linked to 17 types of cancer have been mapped in a new Pathology Atlas by Swedish researchers...

12 June 2017 - by Ebtehal Moussa 
Two trials of a new gene therapy have successfully treated blood cancers in patients who were unresponsive to standard treatment...
25 January 2017 - by Dr Loredana Guglielmi 
Doctors at London's Great Ormond Street Hospital have used genome editing to successfully treat two children with leukaemia...
12 December 2016 - by Ayala Ochert and Ebtehal Moussa 
Researchers have successfully treated a woman with colon cancer using her own immune cells to target a cancer-causing gene that had previously been considered 'undruggable'...
07 March 2016 - by Dr Molly Godfrey 
Scientists have identified a method by which all the cells in a tumour could potentially be recognised and eradicated by the patient's own immune system...
07 January 2013 - by Dr Greg Ball 
Immune cells that can recognise and kill cancer cells have been grown from induced pluripotent stem cells (iPSCs)...

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RNA editing with CRISPR could treat genetic diseases

14 August 2017

By Emma Lamb and Annabel Slater

Page URL: http://www.bionews.org.uk/page_872108.asp Appeared in BioNews 913

Scientists have repurposed CRISPR to target the repetitive RNA sequences responsible for several genetic diseases.

They suggest the approach could one day be used to treat diseases including Huntington's disease, hereditary amyotrophic lateral sclerosis (ALS) and myotonic dystrophy.

'We are really excited about this work because we not only defined a new potential therapeutic mechanism for CRISPR/Cas9, we demonstrated how it could be used to treat an entire class of conditions for which there are no successful treatment options,' said co-first author Dr David Nelles of the University of California, San Diego (UCSD).

Within cells, DNA is transcribed into RNA to produce proteins. Certain diseases are caused by mutations known as microsatellite repeat expansions – repetitive DNA sequences, which when transcribed cause a build up of toxic proteins known as RNA foci.

In a previous study published last year, the team adapted CRISPR/Cas9 to track RNA. They have now applied this technique, known as RCas9, to remove microsatellite repeat expansions from RNA.

The scientists showed RCas9 could remove 95 percent or more of RNA foci linked to myotonic dystrophy type 1 and type 2, one type of ALS, and Huntington's disease. It could also remove 95 percent of repeat RNA in cells taken from patients with myotonic dystrophy, and restore normal binding of MBNL1, a protein which binds RNA but is usually unable to do so in myotonic dystrophy type 1.

'There are more than 20 genetic diseases caused by microsatellite expansions in different places in the genome,' said Dr Ranjan Batra of UCSD, and co-first author. 'Our ability to program the RCas9 system to target different repeats, combined with low risk of off-target effects, is its major strength.'

As RNA is short-lived, any changes resulting from RNA-targeted genome editing would not be permanent. Speaking to KPBS, Dr Batra said this could be preferable in case of 'off-target effects'. Additionally, a viral delivery system for RCas9 could be effective for perhaps five to 10 years, according to senior author Professor Gene Yeo of UCSD.

The team also made a smaller version of Cas9 so that RCas9 could be delivered to patient's cells using a viral vector, which can be too small to hold Cas9. Professor Yeo said the next step would be to establish whether these viral vectors would elicit an immune response in vivo.

The study was published in Cell.

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30 October 2017 - by Julianna Photopoulos 
Scientists have developed the genome editing technique known as 'base editing' to turn adenine-thymine base pairs back to guanine-cytosine...

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...
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11 November 2013 - by Dr Anna Cauldwell 
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Pig organ transplants a step closer as CRISPR removes viruses

14 August 2017

By Cara Foley

Page URL: http://www.bionews.org.uk/page_872068.asp Appeared in BioNews 913

Ancient viral genes have been eliminated from pigs using the genome editing tool CRISPR, according to research.

Pig organs have long been considered as a possible option for transplantation into humans, but there is a high risk of rejection. They also pose an infection risk, as fragments of viral DNA known as porcine endogenous retroviruses, or PERVs, are scattered throughout the pig genome. But now, a team of researchers has used  CRISPR/Cas9 to remove this DNA to create PERV-free pigs.

'Before our study, there was huge scientific uncertainty about whether the pig [produced after this editing] is viable,' said Dr Luhan Yang co-founder of eGenesis Inc., a company based in Cambridge, Massachusetts, and a lead author on this study. She added: 'We've shown you can produce PERV-free pigs which could serve as a source for future xenotransplants.'

The international team, which includes academic researchers, identified 25 genomic sites at which PERV sequences were present in fetal connective tissue. They then used CRISPR to deactivate these sites. They applied a cocktail of molecules that enabled the PERV-free cells to survive before using a standard cloning method to create embryos. Thirty-seven PERV-free piglets were born, revealed the study published in Science.

Professor Darren Griffin of the University of Kent, who was not involved in the study said: 'This represents a significant step forward towards the possibility of making xenotransplantation a reality.  The chance of transmitting PERV from the pig organ to the human cells was a significant barrier and the study shows yet another application of the CRISPR-Cas9 system.'

While calling the study 'very elegant', he added: 'However, there are so many variables including ethical issues to resolve before xenotransplantation can take place.'

Aside from ethical considerations surrounding the future of pig-to-human transplants, technical challenges also remain. The eGenesis team is aiming to deactivate some pig genes and insert others to overcome the risk of rejection. 

Dr Yang noted that overcoming the problems with compatibility is 'the second challenge, and probably more challenging [than the PERV research]'.

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EPO awards CRISPR patent to European biotech

14 August 2017

By Ryan Ross

Page URL: http://www.bionews.org.uk/page_872188.asp Appeared in BioNews 913

German-based company MilliporeSigma has announced that the European Patent Office (EPO) intends to approve its CRISPR patent for use in eukaryotic cells.

The firm, a subsidiary of pharmaceutical giant Merck KGaA, said the EPO has issued a 'Notice of Intention to Grant' a broad patent for the company's CRISPR technology.

'This is a significant and exciting decision by the EPO. This patent provides protection for our CRISPR technology, which will give scientists the ability to advance treatment options for the toughest medical challenges we face today,' said Udit Batra, MilliporeSigma's CEO.

Filed earlier this year, the patent application centres on the firm's 'proxy-CRISPR' technology, which it claims offers greater efficiency, flexibility and accuracy over the original CRISPR technique, allowing the cutting of 'previously unreachable cell locations'.

The EPO's notice to MilliporeSigma was issued five months after a similar notice was granted to the University of California, the University of Vienna and Dr Emmanuelle Charpentier of the Max-Planck Institute in Berlin (see BioNews 895).

Overall control of the patents remains hotly contested, with legal action ongoing in the United States (see  BioNews 911). However, unlike in the US, where the dispute is between just two groups (see BioNews 889), it is believed that the European market will produce a more diverse range of players.

According to patent attorney Catherine Coombes, there is unlikely to be a 'winner takes all' situation in the European intellectual property (IP) market.

She explained to Science: 'I find it quite fascinating that most people seem to think the patent disputes are between two groups when it's far more complicated than that. In Europe, it's quite possible for all six of the early players to have substantially overlapping rights.'

On Twitter, patent specialist Professor Jacob Sherkow at the Innovation Centre for Law and Technology, New York Law School, said that the European IP market had become 'a LOT more complicated'.

MilliporeSigma's patent, he pointed out, 'closely matched' the IP currently disputed in the United States. The only difference was that MilliporeSigma filed its patent six days before US researchers.

'I'm not sure how this gets resolved. The European patent landscape is now a sight to behold,' Professor Sherkow said.

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31 July 2017 - by Dr Rachel Brown 
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FDA reprimands US doctor trying to commercialise MRT

14 August 2017

By Georgia Everett

Page URL: http://www.bionews.org.uk/page_872292.asp Appeared in BioNews 913

The Food and Drug Administration (FDA) has warned a US fertility doctor to stop marketing mitochondrial replacement therapy (MRT) – a technique involving the creation of an embryo with DNA from three people.

Dr John Zhang, chief executive of New Hope Fertility Clinic and research company Darwin Life, made news last October when the world's first MRT baby was born in Mexico (see BioNews 871). Since then, Dr Zhang has been marketing MRT as a 'cure for mitochondrial disease' which can also '[prolong] natural fertility' and is a 'successful solution to age-related infertility' (see BioNews 905).

MRT was developed specifically to prevent transmission of mitochondrial disease, where the mother's eggs contain mitochondria with harmful mutations which can cause devastating disease in her children. The nuclear DNA from the patient's egg or embryo is removed, and transferred it to a donor egg or embryo with healthy mitochondria and its own nuclear material removed.

The procedure is currently not approved under US law, and Congress has banned its consideration by prohibiting funds for clinical investigations involving a 'human embryo being intentionally created or modified to include a heritable genetic modification.'

Dr Zhang had previously informed the FDA, following the success of the MRT therapy, that his centre would not 'use its spindle transfer technology again within the United States to support ex-US studies or procedures' until a suitable legal framework was in place.

However, the FDA has written a letter to Dr Zhang expressing its concerns over his company's continued marketing and promotion of the technique.

Mary Malarkey, the director for the Office of Compliance and Biologics Quality at the FDA's Centre for Biologics Evaluation and Research, explains in the letter to Dr Zhang how he had not met federal regulations when creating the embryo, and how by continuing to market the technology, he is compromising his commitment to stopping the use of MRT until approved.

The letter explores the multiple violations Dr Zhang and his team conducted in his 2016 work, including a lack of written notification to the FDA concerning export of the embryo to Mexico and manipulation of cells more than the minimal permitted allowance. While the use of MRT was not forbidden in Mexico, the treatment was still conducted unlawfully as the embryo did not meet US export licence exemptions. Malarkey continues that the 'letter is not intended to be an all-inclusive list of violations' and Dr Zhang must take full responsibility to 'ensure full compliance with the FD&C Act and the PHS Act and their implementing regulations'.

The FDA has requested Dr Zhang to notify it of the steps his centre has taken and will take to 'address [its] violation …and to prevent recurrence'.

'Darwin Life takes FDA's letter seriously', the company told the New York Daily News. 'We are fully committed to complying with all applicable requirements.'

SOURCES & REFERENCES
STAT | 05 August 2017
 
Washington Post | 08 August 2017
 
US Food and Drug Administration | 04 August 2017
 
CNN | 07 August 2017
 

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HAVE YOUR SAY

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NHS cutbacks worsen IVF 'postcode lottery' in England

14 August 2017

By Dr Kimberley Bryon-Dodd

Page URL: http://www.bionews.org.uk/page_872371.asp Appeared in BioNews 913

Funding cuts by the UK's NHS has meant that 13 areas in England have restricted or halted IVF treatment since the start of 2017, according to Fertility Network UK.

A further eight areas are consulting on taking similar measures, and the situation is worsening says the charity which monitors IVF provision. These cuts amount to a 'postcode lottery' said regional co-ordinator Anya Sizer to Sky News.

NICE recommends that three full cycles of IVF are offered to women under 40 who have not become pregnant after trying to conceive for two years. Currently, only 27 of England's 207 CCGs (Clinical Commissioning Groups) meet this guidance.

In effect, patients in some parts of England may be able to get three fully funded cycles of IVF, while those in a neighbouring CCG, may get no NHS treatment. 'There you have a distance of a few miles up the road and you have a completely different funding experience,' said Ms Sizer.

Earlier this year Croydon became the first London CCG to stop funding IVF to help save £836,000 annually. 

Bristol, North Somerset and South Gloucestershire CCGs are currently holding a consultation on restricting fertility treatment to women aged 30-35 and would be the first in the UK to apply such limitations (see BioNews 912).

An NHS England spokesperson said of the cutbacks to IVF: 'Ultimately these are decisions for Clinical Commissioning Groups, who are under an obligation to balance the various competing demands on the NHS locally while living within the budget parliament has allocated.'

But many have spoken out against the cuts. A spokesperson from the UK Department of Health said: 'Fertility problems can have a serious and lasting impact on families and the NHS should provide access to services, including IVF, for all patients that meet the criteria set out by independent experts at NICE.'

Leceia Gordon-Mackenzie, deputy chief executive of Fertility Network UK, told the BBC: 'England pioneered IVF approaching 40 years ago, but that achievement is meaningless if only those who can afford to pay for IVF benefit from it.'

Fertility expert Professor Simon Fishel told the UK's Guardian newspaper: 'What is the point of having NICE guidelines if they are not adhered to?'

He added: 'If the country decides it will not fund IVF then fine, that is a decision that affects everyone ... but what I cannot abide is the local variation for something like this, which doesn’t reflect local populations.'

The situation is different in Scotland, Wales and Northern Ireland as they all offer the same number of cycles across the country (three, two and one, respectively).

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

06 November 2017 - by Sarah Norcross 
Sarah Norcross, Director of the Progress Educational Trust and Co-Chair of the campaigning organisation Fertility Fairness, speaks on TV and radio about worsening access to publicly funded IVF...
30 October 2017 - by Shaoni Bhattacharya 
Access to IVF in England has worsened considerably over the last five years, according to data obtained by Fertility Fairness...
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...
09 October 2017 - by Georgia Everett 
For the first time couples in Ireland will be eligible for financial aid for fertility treatments, after the Government signed off new proposals last week...

07 August 2017 - by Sarah Pritchard 
Clinical Commissioning Groups in the Bristol region are the first to propose restricting NHS-funded IVF treatment to women aged 30 to 35 years...
26 June 2017 - by Dr Kimberley Bryon-Dodd 
From November 2017, patients will no longer be able to receive IVF at the Bristol Centre for Reproductive Medicine, Southmead Hospital...
27 March 2017 - by Rikita Patel 
New patients referred for infertility treatment by their doctors will now have access to three cycles of IVF on the NHS in Scotland...
20 March 2017 - by Sarah Pritchard 
Croydon has become the first Clinical Commissioning Group in London to cut funding for all IVF treatment, other than in 'exceptional circumstances'...
23 January 2017 - by Dr Rachel Brown 
Steve McCabe MP has led a parliamentary debate on the variable provision of fertility treatments across the UK, calling for a revision to how fertility services are funded and provided...

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Event Review: Is Dementia Inherited?

14 August 2017

By Sarah Gregory

Page URL: http://www.bionews.org.uk/page_872885.asp Appeared in BioNews 913

After the annual Alzheimer's Association International Conference for scientific researchers was held in London this summer, and the subsequent flurry of media interest, the UK dementia charity Alzheimer's Society announced an event for the public to discuss the much asked question: is dementia inherited?

Attended by a mixed audience of those living with dementia, those who had friends and family with dementia, and professionals working in the field, the event was held on 20 July at University College London. It included talks by speakers working in Alzheimer's disease, an extended Q&A, and a chance to meet researchers over a glass of wine!

Dr Tim Shakespeare, research communications officer at the Alzheimer's Society, kicked off his talk by revealing that over 1000 people per week search Google looking for the answer to the question, 'is Alzheimer's disease inherited?', highlighting the worldwide fear of dementia.  This fear was also evident in the audience present, with a quick poll showing that the majority were concerned about the risk of developing dementia. This fear was however perhaps unfounded, given that most attendees, while seemingly aware of lifestyle-based risk, felt that they knew little about the role of genetics in the onset of dementia.

Following a brief introduction, Dr Shakespeare got straight to the heart of the matter – what are the risk factors for dementia and how much of a risk do they actually pose? He showed that the biggest risk factor is age – something which I think most of us tend to forget. What was most surprising was how low the prevalence of dementia is – even in older age groups. Only 6 percent of people between 75-79 years develop dementia, with this figure increasing to just 30 percent in those over 90 years.  He then discussed the role of genetics in dementia, ie. the 'heritable risk factor' and showed that genes, nominally the well-reported APOE-4 gene, were twice as likely to lead to dementia as lifestyle. Nevertheless, even with two copies of the APOE-4 gene, individual risk still remained relatively low. This means that the 6 percent likelihood of developing dementia between 75 and 79 years would increase to around 11 percent with one copy of the APOE-4 gene is present and 18 percent in those with two copies of the gene (a rarity!). In other words, even if you have the highest risk factor – two copies of the APOE-4 gene – you are still much more likely not to develop Alzheimer's disease.

Dr Alexandra Freeman from the Winton Centre for Risk and Evidence Communication picked up the idea of the way in which risk associated with dementia is misunderstood – owed due in no small part to misrepresentation of information by the media. Here, Dr Freeman highlighted the recent BBC coverage of the Lancet paper, which implied that tackling nine (mainly) lifestyle risk factors could reduce the risk of developing dementia.  This is essentially contrary to what was actually presented in The Lancet article, which simply highlighted a series of factors that correlated with dementia diagnosis. There was no mention of any of these factors 'causing' dementia; they were only potential risk factors.  Depression, for example, could be a cause of dementia, but could also be a symptom. The Winton Centre is currently working to ensure that scientific dementia-related information presented by the media is digestible, understandable and discusses risks with a more realistic perspective.

The final presentation by Dr Elizabeth Rosser of UCL changed direction -  looking not at risk and potential for developing dementia, but what to do when heritable Alzheimer's disease is present in families.  A rare form of dementia, familial Alzheimer's, has a 50 percent chance of being inherited and is identifiable via genetic testing. Using Huntington's disease (HD) as an example of a disease where genetic testing is routine, Dr Rosser talked about how taking a genetic test can influence life choices, particularly in younger gene-carriers who may, for example, wish to have children. Genetic counselling both before and after taking a genetic test is vital, and Dr Rosser mentioned a very interesting phenomenon, which as an HD researcher I had not previously considered: most people take a genetic test because they believe they do not have the disease. The importance of genetic counselling was further made clear by the fact that despite 90 percent of people saying they would take a genetic test for familial Alzheimer's, only 10 percent of people actually do.

In sum, the conference hit the right spot for the predominantly non-scientific attendees. Information regarding dementia and genetics was pitched at a level that was both enlightening and understandable. And as a professional, I learnt a great deal about the fantastic work that is being done by the Alzheimer's Society and the Winton Centre in improving the way dementia risk is perceived, and the perception of dementia itself.

SOURCES & REFERENCES

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

08 May 2017 - by Lone Hørlyck 
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27 March 2017 - by Julianna Photopoulos 
A genetic test based on 31 markers could be used to predict at what age an individual is likely to develop Alzheimer’s disease...
14 November 2016 - by Annabel Slater 
Brain tissue from Alzheimer's disease patients shows reduced expression of nuclear genes coding for mitochondrial function...
18 July 2016 - by Chris Hardy 
A gene variant linked to increased risk of Alzheimer's disease may affect memory and thinking skills in children, a study has found...
07 December 2015 - by Chris Hardy 
Scientists have identified a link between the product of the BRCA1 gene, variants which can cause breast and ovarian cancer, and Alzheimer's disease...

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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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