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Issue 927 (20 November 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.

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News Digest




The reflex prenatal screening model seems like a step in the wrong direction

20 November 2017

By Catherine Joynson

Assistant Director, Nuffield Council on Bioethics

Page URL: Appeared in BioNews 927

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.

The authors of the study published in Genetics in Medicine compared their 'reflex' model to the screening test currently offered to women on the NHS – the combined test. They stated that 'no other method of prenatal screening for these disorders has such a high detection rate for such a low false-positive rate'. Further benefits of the reflex model were suggested to be that women would be less likely to become acutely anxious, and cost-savings due to a reduced need for diagnostic and counselling.(1)

The Nuffield Council on Bioethics published a report on the ethics of non-invasive prenatal testing (NIPT) earlier this year.(2) NIPT is a technique for analysing cell-free DNA from the placenta circulating in pregnant women's blood. My involvement with this project leads me to believe that the reflex study, and much of the resulting media coverage, has ignored a swathe of research and public debate that has guided policymakers down a path that is subtly but importantly different to the one advocated by the reflex model.

The reflex model is not a new prenatal test but a different way of offering NIPT. It involves taking the woman's blood at the initial consultation and automatically sending this to be analysed using NIPT if the woman is found to have at least a 1 in 800 chance of having a fetus with Down's, Edwards' or Patau's syndrome following the combined test. The woman is not informed of the result of the combined test before the NIPT stage. The study press release states the reflex model is 'far more accurate and safer' than existing tests – safer in that it results in fewer women having confirmatory diagnostic tests, such as amniocentesis, which carry a small risk of miscarriage.

However, the reflex study is just one of many to show that NIPT is more accurate and leads to fewer false positive results than the combined test. For example, in the NIHR-funded RAPID study that involved 30,000 screened women across eight NHS hospitals, NIPT identified all fetuses with Down's syndrome among women who opted for the test, and resulted in few false positives.(3)

More concerning is the impression that reproductive choice was not given high priority in the reflex study. One of the central recommendations of the Nuffield Council's report is that pregnant women and couples should have access to NIPT but only within an environment that enables them to make autonomous, informed choices. Patient groups and others who contributed to the consultation activities for the Council's report raised concerns that the reflex model may not provide women with enough opportunity for discussion and reflection. As a result, it could compromise their ability to give informed consent to NIPT.(2)

Reflex screening might support informed choice if women and couples were given the opportunity to have an extended discussion with a specially trained professional at the beginning of the screening process. This would allow them to discuss the possibility of their blood sample being sent for NIPT analysis, the implications of different results, the choices that testing may lead to, and what it is like to have a child with the condition being tested for. However, the only reference to the provision of information or support in the study is that women who opted for screening 'received a leaflet describing the reflex DNA approach'.

One of the reasons given by the authors for not returning the combined test results to women before the NIPT stage was to reduce unnecessary anxiety: 'imparting potentially distressing information when this can be completely avoided is self-evidently of benefit'. I would argue that nothing is self-evident in this complicated area of medicine.

Their approach may be better for those women who have false positive results, but it might not be as good for women who have 'true positive' results. We do not currently know. Also, this approach will not necessarily reduce anxiety in the long run and, even if it does, this does not mean women and couples should be denied the opportunity to consider their options in light of a high-chance combined test result. In addition, their approach does not fit with the recent shift in medical practice away from what a reasonable doctor would tell the patient, to what a reasonable patient would want to know.

The reflex model also appears to disregard recent public debate on NIPT for Down's syndrome. Concerns have been reignited that the aim of prenatal screening is to 'screen out' Down's syndrome rather than promote reproductive choice for women. Hence, one thing that almost all contributors to the debate agree on is that NIPT is only ethical if women and couples are given up-to-date, balanced and non-directive information and support during the screening process to enable them to make properly informed choices.

This message has reached policymakers. NIPT will be offered as part of the NHS Fetal Anomaly Screening Programme across England and Wales from 2018. In this model, pregnant women who are found to have at least a 1 in 150 chance of their  fetus having Down's, Edwards' or Patau's syndromes after having the combined test will be given the opportunity to discuss with a specially trained healthcare professional whether they would like to have NIPT, diagnostic testing or no further testing. Public Health England has been developing a programme of training with the input of the Down's, Edwards' and Patau's syndrome communities in preparation for the roll-out next year.

In light of all this, it seems surprising that the researchers responsible for the reflex study are now 'approaching other hospitals in the UK to see if they would be interested in adopting the new test', according to the study press release. Removing an opportunity to give information and choice to pregnant women and couples in the screening process is a move in the opposite direction to that which policy and public attitudes are currently travelling.


27 November 2017 - by Jonathan Bestwick 
Antenatal screening for Down's, Edwards' and Patau's syndromes with the reflex DNA method was shown in our recent study to have higher screening performance compared with the combined test alone, and compared with the proposed recall DNA method...

13 November 2017 - by Dr Barbara Kramarz 
A new prenatal screening method for Down's syndrome, Edwards syndrome and Patau syndromes is safer, more reliable and cheaper than existing approaches, a study has found...
06 November 2017 - by Ruth Retassie 
Genetic testing for cystic fibrosis, fragile X syndrome and spinal muscular atrophy is recommended for all would-be parents by a study in Australia...
25 September 2017 - by Dr Rosie Gilchrist 
Parents pass on more new genetic mutations to their children with age, and fathers pass on more than mothers, according to a study...


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Confronting unproven stem cell treatments in Australia: The new regulation

20 November 2017

By Dr Patrick Foong

Western Sydney University

Page URL: Appeared in BioNews 927

Stem cell research holds tremendous promise for the treatment of a wide variety of illnesses and conditions, from spinal cord injury to autism. However, much more work is necessary to translate stem cell research into safe and effective therapies. Many clinics are bypassing this crucial stage, advertising stem-cell based procedures on the internet despite little evidence for their safety or efficacy (see BioNews 908). Some patients, especially the acutely ill and desperate, are prepared to pay a high price for these stem-cell-based treatments.

The range of illnesses for which there are proven treatments based on stem cells is negligible. At present, the only established safe and effective stem-cell treatment is haematopoietic stem cell transplantation (HPC) transplantation; for decades, doctors have been using stem cells from bone marrow and umbilical cord blood to treat disorders of the blood and immune system such as leukaemia.

But other stem cell therapies are merely experimental. Just like a new drug, stem cell therapies must be assessed and meet stringent standards before obtaining the formal approval from regulatory bodies to be used to treat people. Thus, medical research into stem cells is still at infancy stages and more research is needed to create safe and effective treatments.

The grave concern is that stem cell therapies are being sold around the world, including Australia, before they have been proven safe and effective (see BioNews 921). There is direct advertising to consumers via the internet. There have been disturbing reports of baseless claims of cures; charlatans and adverse medical events. The potential risks include infection, allergic reactions, development of cancer, rejection of the cells by the patient's immune system and other complications that can be fatal. Also there is no evidence that these treatments will work. They may cause financial hardship as they are expensive and the procedures may involve repeat treatments. There may even be the cost of emergency medical care if something goes wrong. Undergoing unproven stem cell treatment may interfere with proven therapies and it can also disqualify the patient from participation in clinical trials.

Previously, these treatments are available mostly in developing countries with weak laws or lax enforcement such as China and India. However, these days, Australia too has some stem-cell businesses, growing to more than 60 such enterprises since 2011. Australia had among the world's highest concentration of stem-cell clinics, with websites advertising medical procedures and even anti-ageing therapies. Other developed countries that also engage in the direct-to-consumer marketing of stem-cell treatments are Ireland, Singapore, Germany, Italy, Japan, and the United States. Desperate people are at risk of becoming patients without the safeguards of a controlled clinical trial.

Australia's Therapeutic Goods Administration (TGA), which is responsible for ensuring that therapeutic goods are of an acceptable standard, introduced an exemption for certain types of biologicals including autologous therapies (cells and tissues that are removed from and applied to the same person, i.e., the donor and the recipient are the same person) in 2011. These cells may be treated, processed or purified after removal. As the cells come from the same person, there is a much lower chance of rejection of the cells by the patient's immune system. The exception was introduced because they were seen as an extension of medical practice and it was intended to exclude straightforward procedures from undue regulatory interference. Under the Therapeutic Goods (Excluded Goods) Order No1 of 2011, 'stem cell treatments may not be subject to regulation by TGA if they are human cells that are collected, processed and returned to the same patient, in a single course of treatment while under the clinical care and supervision of a registered medical practitioner'. However, these unproven stem cell-based therapies may be unsafe.

Recognising the potentially severe risks to human health and welfare posed by these stem cell-based therapies, TGA responded to this serious problem by conducting two consultations (one in 2015 and the other in 2016) with various stakeholders to seek public input to determine an appropriate regulatory framework. Four options were proposed for the future regulation of autologous human cell and tissue products. Option one maintains the status quo allowing providers to continue marketing unproven autologous stem cell directly to consumers. Options two, three and four prohibit the direct-to-consumer marketing of autologous stem cell but they differ according to the degree of manipulation that is permitted before regulatory exemption no longer applies.

Last month, TGA announced that changes to the law on autologous stem-cell therapies will be implemented in 2018. A transition period will permit providers some time to adjust to the new regulations. Some of the products will be subject to regulation as biologicals by the TGA with the level of control being determined by the risk posed to patient safety. This long-awaited and welcomed crucial step will place Australia into closer alignment with other jurisdictions such as the European Union and the US. When the new regulation is fully implemented, it is likely to be a successful effort to push back against unscrupulous doctors. While this is undoubtedly a progress, much would depend on the practical reality of the enforcement measures. It remains to be seen.



09 October 2017 - by Jennifer Willows 
The reputation of stem cell research is being undermined by unscrupulous clinics offering unproven therapies, says a report published last week...
04 September 2017 - by Rikita Patel 
The US Food and Drug Administration intends to investigate the use of unproven stem cell therapies being offered in the country's clinics...
10 July 2017 - by Lea Goetz 
International experts are calling for global action on unproven and potentially dangerous stem cell therapies and their misleading marketing to the public...
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...


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Real-time film shows CRISPR in action

20 November 2017

By Helen Robertson

Page URL: Appeared in BioNews 927

For the first time ever, researchers have been able to film, in real-time, the activity of the CRISPR technique on a strand of DNA.

The short video, made by a team of researchers led by Professor Osamu Nureki at the University of Tokyo, and published in Nature Communications, records the CRISPR-Cas9 enzyme physically cutting the strand of DNA with which it interacts.

Although this does not show anything new about the behaviour of CRISPR, it confirms what scientists had previously hypothesised about the mode of action of CRISPR/Cas9 from other observations, and is the first 'live-action' demonstration of this technology.

The video was originally presented in June at a CRISPR conference held in Big Sky, Montana. Speaking to The Atlantic, Dr Sam Sternberg – who works with CRISPR and attended the conference, but was not associated with the project – emphasised the reaction of the scientific audience to the novel video clip, saying 'I was sitting in the front, and I just heard this gasp from everyone behind me'.

Professor Nureki and colleagues made the video using a technique known as atomic-force microscopy. This involves drawing a minuscule needle over the surface of the molecules that the researchers are imaging, with a laser simultaneously detecting changes in the light being deflected from the needle. By using a high-speed version of this technology, which scans very quickly, the team were able to capture the dynamic process of CRISPR and DNA interaction in real-time.

Importantly, although the video shows CRISPR in action, it does not show genome editing in a living cell: the DNA sequence that was cut is not part of an organism's complete genome, but a short selected sequence, purified and attached to a solid surface. In addition, the researchers did not observe the DNA sequence being repaired – so it does not give a complete view of the genome editing process.

Nonetheless, many believe this type of representation makes molecular biology more accessible – and exciting – to a wider audience. 'The result is fairly easy to understand,' said Dr Hiroshi Nishimasu, a study co-author, also at the University of Tokyo. 'People say "Wow!" It's very simple.'

The latest developments in CRISPR and genome editing will be discussed at the session 'What Next for Genome Editing? Politics and the Public', at the Progress Educational Trust's upcoming public conference 'Crossing Frontiers: Moving the Boundaries of Human Reproduction'.

The conference is taking place in London on Friday 8 December 2017. Full details - including sessions, speakers and how to book your place - can be found here.

The Atlantic | 13 November 2017
Nature Communications | 10 November 2017
Futurism | 15 November 2017


11 December 2017 - by Isobel Steer 
Scientists in California have used a modified form of the CRISPR/Cas9 genome editing approach to epigenetically treat diabetes, kidney disease and muscular dystrophy in mice...
27 November 2017 - by Lea Goetz 
The Darwin lecture held at the UK's Royal Society of Medicine in London, and jointly organised with the Linnean Society, gives an annual look at topics in science and medicine....

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...
09 October 2017 - by Emma Laycock 
Scientists have repaired the faulty gene in a mouse model of muscular dystrophy by using gold nanoparticles to deliver the genome editing tool CRISPR-Cas9...
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....
17 July 2017 - by Lea Goetz 
Scientists have used the CRISPR/Cas system to encode a film in the genomes of living bacteria...


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Gene conferring long-life identified in US Amish community

20 November 2017

By Charlott Repschlager

Page URL: Appeared in BioNews 927

A rare genetic mutation leading to longer and healthier lives has been discovered in an Amish community in the USA.

Researchers at Northwestern University in Evanston, Illinois, identified the mutation by analysing a gene called SERPINE1 in 177 members of the Old Order Amish community in Berne, Indiana. SERPINE1 codes for the protein PAI-1, which is involved in cell ageing, and also impairs the breakdown of blood clots.

Having two mutated copies of SERPINE1 results in problems with blood clotting, which can lead to excessive bleeding after injury. But having one mutated copy of SERPINE1 gave people a significant health advantage, according to the study published in Science Advances.

These health benefits and increased lifespan were seen in the 43 members of the Amish community who had one normal and one mutated copy of the gene, and as a result had about 50 percent less PAI-1 in their blood. They had lower blood sugar levels between meals, a lower incidence of diabetes and an average lifespan of 85 years - 10 years longer than members of the community with two normal copies of SERPINE1.

People with one mutated copy of the gene also had telomeres that stayed longer into old age. Longer telomeres offer more protection to the DNA and indicate slower ageing of the cells.

It is the first time that these molecular and metabolic markers have been found in a community known for long lives with few age-related illnesses, said Dr Douglas Vaughan, a cardiologist at Northwestern University's Feinburg School of Medicine and lead author of the study.

'That played out in them having a longer lifespan. Not only do they live longer, they live healthier. It’s a desirable form of longevity,' Dr Vaughan said.

The protein PAI-1 has already been studied in mice, where lower levels of the protein seemed to protect against age-related diseases and prolonged lifespan. Those results had previously not been confirmed in humans. The relative isolation of the Amish community of Berne means that their naturally lower levels of PAI-1 have been preserved, making them an ideal cohort to study the effects of PAI-1 in humans.

'This is the only kindred on the planet that has this mutation,' Dr Vaughan said. 'It's a "private mutation".'

In the general population PAI-1 levels have been found to dramatically increase in people suffering from obesity, type 2 diabetes or cardiovascular disease. 'We are very optimistic about its potential role not just in slowing ageing but in reducing age-related morbidities,' said Dr Vaughan.

However, geriatrician Dr Nir Barzilai of Albert Einstein College of Medicine in New York City, New York, warned that the data was collected from only one small group of people, Science magazine reported. Nevertheless, researchers at Tohoku University in Japan are trialling a therapy targeting PAI-1 blood levels in humans, despite concerns about potential side effects such as problems with blood clotting.


23 October 2017 - by Annabel Slater 
Weight loss, education, giving up smoking, and being open to new experiences have all been linked to longer life...
18 March 2013 - by Antony Blackburn-Starza 
A genetic mutation linked to mental retardation has been identified in an Amish community in the USA....
03 October 2011 - by Dr Louisa Petchey 
A gene associated with increased lifespan in a number of organisms is now thought to have no effect on longevity after a second look revealed significant flaws in the original studies on which the assumptions were based. The findings will disappoint the manufacturers of many anti-ageing creams that claim to work by activating the gene, but are unlikely to put a stop to research...
16 May 2011 - by Dr Lux Fatimathas 
US researchers claim women who give birth to twins live longer than those who give birth to single babies. They speculate that the ability to successfully birth twins reflects a general biological robustness in the health of these women. A twin pregnancy is known to be more taxing on the mother's body and therefore was not thought to be biologically advantageous....
16 December 2008 - by Dr Rebecca Robey 
Scientists have identified a rare gene variant that protects against cardiovascular disease. A research team at the University of Maryland School of Medicine, Maryland, US, found that carriers of an unusual form of a gene called APOC3 had reduced levels of harmful fat particles in their blood...


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Lack of vitamin D linked to lower birth rates after fertility treatment

20 November 2017

By Dr Katie Howe

Page URL: Appeared in BioNews 927

Women who had fertility treatments were a third less likely to deliver a baby if they had low levels of vitamin D compared with women who sufficient vitamin D, a review study has found.

Researchers at the University of Birmingham analysed 11 studies, with data from 2700 women who had received fertility treatment and had their vitamin D levels tested. The researchers also found that women with enough vitamin D were more likely to have a clinical pregnancy (where a fetal heart beat could be detected) or a positive pregnancy test. There was no association between miscarriage and vitamin D levels.

'Although an association has been identified, the beneficial effect of correction of vitamin D deficiency or insufficiency needs to be tested by performing a clinical trial,' said Dr Justin Chu, study lead author at the University of Birmingham and Birmingham Women's and Children's NHS Foundation Trust.

The major source for vitamin D is sunlight. It is also found in foods such as oily fish, red meat and liver, and can be taken as a supplement. However, is not clear if taking vitamin D supplements can increase women's chances of having a child after assisted conception.

'Women who want to achieve a successful pregnancy should not rush off to their local pharmacy to buy vitamin D supplements until we know more about its effects,' said Dr Chu. 'It is possible to overdose on vitamin D and this can lead to too much calcium building up in the body, which can weaken bones and damage the heart and kidneys.'

A limitation of the study was that that vitamin D levels were assessed before fertility treatment in some studies and at the time of egg collection in other studies. The 11 studies analysed were also quite diverse, studying women who had a range of fertility treatments including IVF, intracytoplasmic sperm injection or frozen embryo transfer.

The research did not explore the mechanism for how vitamin D might affect pregnancy. The scientists suggest that vitamin D could affect the ability of the embryo to implant in the womb lining. They are now calling for a large, randomised control trial to look at whether vitamin D supplements could improve birth rates in women undergoing assisted reproduction.

The study was published in the journal Human Reproduction.


25 September 2017 - by Chandni Patel 
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...
11 September 2017 - by Georgia Everett 
Six key genes have been identified in the largest study of premature birth to date...
06 February 2012 - by Ruth Saunders 
Exposure to increased levels of vitamin D could boost your fertility, a recent study suggests. The findings may also explain why conception rates fall in the winter and peak in the summer in Northern European countries....


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FDA to speed up gene therapy and regenerative medicine approvals

20 November 2017

By Martha Henriques

Page URL: Appeared in BioNews 927

The US Food and Drug Administration (FDA) has announced a fast-track review process for gene therapies and other regenerative medicine treatments.

The new draft guidelines are an attempt to bring effective gene therapies to market more quickly. So far, the FDA has only approved two such treatments, which treat leukaemia and lymphoma. The updated guidelines will also speed up approval of stem cell based treatments that could treat serious or otherwise untreatable illnesses.

'These concepts are no longer the stuff of science fiction,' said Dr Scott Gottlieb, commissioner of the FDA. 'We’re at the beginning of a paradigm change in medicine with the promise of being able to facilitate regeneration of parts of the human body… where new genes can be introduced into the body to combat disease; and where adult stem cells can generate replacements for cells that are lost to injury or illness.'

In addition to the fast-track process, the FDA has clarified several points to help researchers and drug developers understand whether their treatments are considered higher risk, requiring pre-market regulation, or whether they fall into a lower-risk category.

Researchers and therapy developers have welcomed the new guidelines.

'This is an incredibly significant development for the gene therapy, regenerative medicine sector,' Michael Werner, a lawyer and co-founder of the Alliance for Regenerative Medicine, told the New York Times. 'This should really open the door to a lot more gene therapies coming on the market quickly.'

However, Dr Michael Carome, director of non-profit organisation Public Citizen's health research group, told the newspaper that there was 'excessive hype' around the guidelines. 'We are talking about rushing to market very complex biologics products where we are still in the infancy of this field,' he said.

Clinical trials will remain an essential element of the accelerated approvals process, the FDA said. At the same time, the agency plans to crack down on illegitimate clinics offering unproven and often risky procedures. 

This is overdue, said Dr Leigh Turner, an associate professor at the University of Minnesota's Centre for Bioethics in Minneapolis, Minnesota. The market for unproven treatments with no basis in evidence is 'quite large, quite active and [it's been there] a long time without meaningful oversight', he told Regulatory Focus. Many of these clinics purport to use stem cells derived from fat tissue. These procedures will now be brought under the FDA's remit.

Dr Peter Marks, director of the FDA's centre for biologics evaluation and research, said at a news conference: 'Our goal here is not to flood the market with products. It's to get products on that are safe and effective, and to clear up the field so that people know what they have to do.'

US Food & Drug Administration | 16 November 2017
The New York Times | 16 November 2017
Regulatory Affairs Professionals Society Focus | 16 November 2017


27 November 2017 - by Theofanis Michailidis 
The US Food and Drug Administration (FDA) is taking an active stance against the use of 'do it yourself' gene therapy kits...

13 November 2017 - by Jamie Rickman 
The US Food and Drugs Administration has further deregulated direct-to-consumer genetic health risk tests, meaning that some will be approved for market without a pre-market review...
19 October 2017 - by Jennifer Willows 
The US Food and Drug Administration have approved the world’s second gene therapy to target blood cancer...
16 October 2017 - by Rikita Patel 
The US Food Drug and Administration advisory committee has backed the use of gene therapy to treat a hereditary disease for the first time...
09 October 2017 - by Jennifer Willows 
The reputation of stem cell research is being undermined by unscrupulous clinics offering unproven therapies, says a report published last week...
04 September 2017 - by Rikita Patel 
The US Food and Drug Administration intends to investigate the use of unproven stem cell therapies being offered in the country's clinics...


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Genetic 'sensor' spots and kill cells with key cancer gene

20 November 2017

By Marcia Costa

Page URL: Appeared in BioNews 927

A team of scientists in Germany has developed a 'sensor' that detects mutations in the key tumour suppressor gene p53 and then kills potentially cancerous cells. The research was published this month in Nature Communications.

The p53 gene is part of a family of genes that prevents cells from proliferating in an uncontrolled manner, which results in cancer. Mutations that stop p53 from working are implicated in 50 percent of human cancers, and many biotechnology companies have developed drugs to target the gene.

In this study, the multicentre team from Dresden created a molecular sensor that detects when early changes occur in the p53 gene. This sensor takes the form of a genetic element that makes a cell reliant on normal p53 – any mutations which disable the gene activate the sensor and trigger cell death mechanisms, so preventing tumour formation.

This would be a novel way to deal with cancer, according to project leader Professor Frank Buchholz at University Hospital Carl Gustav Carus. 'We treat cancer cells long after they have gone through the transformation process,' he noted. With the team's new approach, prevention would be the key.

'The p53 sensor enables an active precocious intervention for the first time,' said Professor Buchholz. 'Our results show that cells with p53 mutations can be selectively detected and eliminated at an early stage. Hence, the transformation process is prevented.'

The team has, so far, tested this sensor in vitro and in vivo in a mouse model. These new findings, though, open doors to develop new techniques for cancer diagnosis. It might even be possible to adapt this sensor for other genes.

Nature Communications | 13 November 2017 | 16 November 2017
Science Daily | 14 November 2017


19 October 2017 - by Charlott Repschlager 
Between one and 10 mutations are required for a healthy cell to turn cancerous...
21 August 2017 - by Marcia Costa 
Genes linked to 17 types of cancer have been mapped in a new Pathology Atlas by Swedish researchers...
08 August 2016 - by Amina Yonis 
More than half of patients with sarcoma, a rare cancer, have mutations that are known to increase the risk of other types of cancer...
21 October 2013 - by Dr Naqash Raja 
Common gene mutations link 12 cancer types such as blood, colon and kidney, research from Washington University School of Medicine, USA, has shown...
07 May 2013 - by Suzanne Elvidge 
Genetic analysis of tumours provides the key to treating them effectively, according to two studies carried out by The Cancer Genome Atlas (TCGA)....


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Stem cell therapy shows promise in patients with sight loss

20 November 2017

By Jenny Sharpe

Page URL: Appeared in BioNews 927

Preliminary results from two early stage clinical trials suggest that embryonic stem cells could be used to treat patients with dry age-related macular degeneration (AMD).

In both studies, the researchers converted human embryonic stem cells (hESCs) into retinal pigment epithelial (RPE) cells, which were then injected into the eyes of patients with dry AMD. The procedure was well-tolerated and one trial reported improved vision in some patients.

'There were no serious adverse events attributable to the transplanted RPE cells, including no tumour formation,' said Dr Ninel Gregori, leader of one of the trials based at the Bascom Palmer Eye Institute in Miami, Florida.

'These trials were not designed for efficacy and there's no control group, so you have to take this with a grain of salt but there was increased visual improvement in the treated eye,' she added.

The second trial, by researchers in Israel, also found RPE cells derived from hESCs to be well-tolerated in patients. 'We're encouraged by the results thus far, but this is just a first step in the long road towards making regenerative cell therapy a reality in macular and retinal degeneration,' said Professor Eyal Banin, at the Hadassah-Hebrew University Medical Centre in Jerusalem, who led the study.

The exact cause of macular degeneration is unknown, but it involves the loss of RPE cells in part of the retina called the macula. These cells deliver nutrients and remove waste products from the light-sensitive rod and cone cells. Without RPE cells, the rods and cones in the macula gradually die and central vision – essential for tasks such as reading, driving and facial recognition – deteriorates.

AMD currently affects more than 600,000 people in the UK and is the leading cause of vision loss. Approximately 1 in 10 people over the age of 65 have some degree of AMD.

Experts in regenerative medicine believe that macular degeneration will be one of the first conditions treated with stem cell therapy. RPE cells grown in the laboratory are very similar to those found naturally in the eye, and can be easily grown in large numbers. Furthermore, the risk of immune rejection is relatively low, as the cells are injected into an immune-privileged area of the eye.

Results from both trials were presented at the American Academy of Ophthalmology's annual conference in New Orleans, Louisiana last week.

EurekAlert | 14 November 2017
European Pharmaceutical Review | 15 November 2017
Medscape | 16 November 2017


11 December 2017 - by Emma Laycock 
An efficient method to collect amniotic fluid rich in stem cells during caesarean sections has been developed by scientists in Sweden...

05 June 2017 - by Emma Lamb 
Two teams of doctors in China are to administer embryonic stem cell therapy from fertilised human embryos to treat different degenerative diseases...
20 March 2017 - by Paul Waldron 
In two different attempts to treat degenerative eye diseases with stem cells, three patients have been blinded, while disease progression has been stopped in a separate patient...
13 January 2017 - by Ayala Ochert 
Scientists have partially reversed blindness in mice using lab-grown retinas made from skin cells...
14 March 2016 - by Kulraj Singh Bhangra 
Scientists have shown that stem cells found in the eye can restore vision in children with cataracts...
05 October 2015 - by Jenny Sharpe 
A potential treatment for wet age-related macular degeneration has been carried out for the first time...


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Two couples sue fertility clinic for providing eggs with genetic abnormalities

20 November 2017

By Nina Chohan

Page URL: Appeared in BioNews 927

The New York fertility clinic Reproductive Medicine Associates is facing two lawsuits from couples whose children, conceived using donor eggs from the centre, have Fragile X syndrome.

This genetic condition can lead to intellectual and developmental difficulties. The parents of the two affected children claim that the clinic and their doctor, Dr Alan Copperman, failed to test the women who donated the eggs to see if they were carriers for Fragile X.

After the children were born, the women who donated the eggs tested positive as carriers of the Fragile X mutation.

However, lawyers for Dr Copperman and the clinic have argued that the couples' lawsuits were filed too late. In New York State, the statute of limitations for medical malpractice law gives the plaintiffs have two-and-a-half years to make a claim. This is measured from when the alleged harm happened, or the date of the patients' last treatment.

Lawyers representing Dr Copperman and the clinic argue that the statute of limitations began when the women ended fertility treatment, and not when the children were born or the genetic abnormality was diagnosed. Both couples filed their lawsuits two years after the children were born, when the children began to show symptoms of the condition, including delayed development.

'It makes no sense to expect the parents to file a lawsuit before they even knew about the abnormality,' said James LiCalzi, an attorney for the affected parents, the Associated Press reported. 'A claim didn't exist here until this child was born alive.'

Caryn Lilling, an attorney for Dr Copperman and the clinic, argued that 'the statute of limitations must run from the time of the act until the Legislature decrees otherwise'.

The couples are seeking damages from Dr Copperman and the Reproductive Medicine Associates clinic for the added expense of raising children with a disability. The New York Court of Appeals has heard oral arguments and a decision is expected next year.


11 December 2017 - by Theofanis Michailidis 
A woman who acted as a surrogate for friends has sued the fertility clinic where they were treated, after it transferred one of the unused embryos made using her eggs to impregnate the same couple, without her consent...

06 November 2017 - by Ruth Retassie 
Genetic testing for cystic fibrosis, fragile X syndrome and spinal muscular atrophy is recommended for all would-be parents by a study in Australia...
30 November 2015 - by Antony Blackburn-Starza 
A woman is suing a fertility clinic in Australia for failing to detect that she was a carrier of a genetic mutation during pre-pregnancy testing, after her sons were later born with an inherited condition....
30 June 2014 - by Dr Victoria Burchell 
Genetic disorders are often so rare that patients never receive a genetic, or even a clinical, diagnosis. Now an everyday photo may be all that's needed, using a newly developed computer program to analyse facial structures...


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Study uses genome editing inside patient for first time

20 November 2017

By Jennifer Willows

Page URL: Appeared in BioNews 927

A new clinical trial in California marks the first time that genome editing has been used inside the body, rather than on cells such as blood or skin which can be extracted, edited outside the body, and then replaced.

A patient with the metabolic disorder Hunter syndrome was given an infusion containing a type of genome editing machinery called zinc finger nucleases as well as billions of DNA copies of the gene which codes for a protein they lack.

The treatment targets the liver cells. 'We cut your DNA, open it up, insert a gene, stitch it back up,' said Dr Sandy Macrae, president of Sangamo Therapeutics, which is running the trial. 'It becomes part of your DNA and is there for the rest of your life.'

People with Hunter syndrome lack a working copy of the gene that makes a protein called albumin. Without this enzyme, the body cannot break down complex sugars called mucopolysaccharides and so these molecules accumulate in the body's cells causing damage to the brain and many other organs.

The one-off treatment will not reverse damage already caused, but if successful will replace weekly intravenous infusions of the enzyme which can ease symptoms but do not prevent brain damage. Dr Paul Harmatz, leading the study at UCSF Benioff Children's Hospital in Oakland, California estimates that only one percent of liver cells need to be successfully edited for the patient to make an adequate quantity of the enzyme.

The therapy is being tested in adults, but if proved safe and effective will hopefully be available to child patients in future. By providing the treatment early in life it is hoped that the mucopolysaccharides will build-up and subsequent tissue damage can be minimised or avoided altogether.

The first recipient of the treatment was Brian Madeux from Arizona. He has had 26 surgeries so far in his life as a result of Hunter Syndrome, and says he took part in the trial because he is 'in pain every second of the day'.

'I'm willing to take that risk,' he told the Associated Press. 'Hopefully it will help me and other people.'

It will take about three months before tests show whether the treatment has been successful. 'I'm nervous and excited,' said Madeux. 'I've been waiting for this my whole life, something that can potentially cure me.'

'There's a lot of potential for treating liver diseases in this way,' said Professor Robin Lovell-Badge at the Francis Crick Institute in London, not involved in the trial. But he warned that the approach may not be applicable to other types of conditions: 'Taking it to more complex things like muscular dystrophy and cystic fibrosis will require a lot more work.'

The latest developments in genome editing will be discussed at the session 'What Next for Genome Editing? Politics and the Public', at the Progress Educational Trust's upcoming public conference 'Crossing Frontiers: Moving the Boundaries of Human Reproduction'.

The conference is taking place in London on Friday 8 December 2017. Full details - including sessions, speakers and how to book your place - can be found here.


27 November 2017 - by Lea Goetz 
The Darwin lecture held at the UK's Royal Society of Medicine in London, and jointly organised with the Linnean Society, gives an annual look at topics in science and medicine....

13 November 2017 - by Paul Waldron 
A boy with a rare skin disease has been successfully treated by replacing most of his skin with grafts of stem cells modified by gene therapy.
30 October 2017 - by Jennifer Willows 
NICE has approved a gene therapy for children with a rare disorder that leaves them with no functioning immune system...
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...
11 July 2011 - by Dr Caroline Hirst 
Scientists have, for the first time, successfully treated a blood disorder by repairing errors in the DNA of a living animal. Researchers from The Children’s Hospital of Philadelphia, together with California-based Sangamo BioSciences, have applied an innovative genome editing technique to treat haemophilia B, which affects around one in 30,000 boys and men...
07 March 2011 - by Dr Lux Fatimathas 
American researchers have successfully created immune cells resistant to HIV. T cells, which are the main target of HIV, were isolated from six HIV positive patients and genetically manipulated to confer resistance. The cells were injected back into the same patients and were able to survive and multiply...


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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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