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Issue 930 (11 December 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




Does it matter whether infertility is a disease?

11 December 2017

By Hane Maung

Research Associate in Philosophy, Lancaster University

Appeared in BioNews 930

Infertility affects one in seven couples in the United Kingdom. Currently in England, state-funded treatment for infertility is available under the NHS, although availability varies across different local clinical commissioning groups. Depending on the kind of infertility, treatment may include medical interventions, surgical procedures, and assisted reproductive technologies.

How do we justify state funding for infertility treatment? Some defend it by claiming that infertility is a disease. Accordingly, like any other disease, it deserves medical treatment. For example, the World Health Organization considers infertility to be 'a disease of the reproductive system' (1), while the Warnock Report states that 'an inability to have children is a malfunction and should be considered in exactly the same way as any other' (2). However, not everyone argues that infertility is a disease. In a 2002 survey by the BMJ, infertility appeared on the list of 'non-diseases' as a 'variant of normal' (3). Another survey published in Human Reproduction in 2000 found only 38 percent of participants agreeing that infertility is a disease (4).

This controversy over the disease-status of infertility is often considered to be significant, because it could have implications for whether or not state-funded treatment for it is justified. For example, ethicist Dr Vardit Ravitsky and lawyer Raphaelle Dupras-Leduc note, 'if perceived as a disease, public funding for its treatment is construed as justified… if not, funding it may not be justified from the outset' (5). Hence, it is tempting to think that a useful approach to evaluating whether or not infertility warrants state-funded treatment is to establish whether or not it is a disease.

However, this approach has problems. First, infertility is not a unitary condition. There are many different reasons why people are unable to conceive. Some cases may be attributable to identifiable physiological or anatomical anomalies. Other cases may be due to the declining reproductive capacity associated with advancing age. Furthermore, infertility is often relational. That is to say, a person might be unable to conceive with one partner but able to conceive with another. Then, there are cases of social infertility, which include people who cannot conceive due to being in same-sex relationships, being widowed or being single by choice. Given this dappled nature of infertility, it is possible that some cases of infertility could be considered diseases while other causes could not.

Second, there is the philosophical problem of defining the concept of disease. What determines whether a condition is a disease rather than a mere difference? Philosophers have proposed various theories. One influential view is that disease involves a deviation from statistically normal function. For example, diabetes involves the inability to maintain blood sugar at a level deemed normal for adult humans (6). Another popular view is that disease has to be harmful to a person by compromising the ability to achieve desired goals. For example, a bout of influenza interferes with one's ability to work, exercise and socialise (7). It has also been proposed that disease must involve both biological dysfunction and individual harm (8). For example, heart failure involves the heart's inability to adequately pump blood and is associated with considerable suffering.

Philosophers disagree over which of the aforementioned features are the most important of disease states. Nonetheless, despite their different underlying claims, the various theories they offer successfully capture many conditions that are uncontroversially considered diseases, such as cancers, infections, autoimmune syndromes and so on. Therefore, in the majority of cases, the theories serve as useful guides.

With respect to infertility, however, things are not so straightforward. Cases of infertility often do not possess all of the aforementioned features associated with disease. Moreover, different kinds of infertility can possess different combinations of features. For example, a case of infertility due to an anatomical anomaly involves a failure of biological function, but this may not be deemed harmful if the individual does not want children. The infertility associated with advancing age involves a loss of biological function which may be undesirable, but this loss of function is statistically normal relative to the relevant age group. Conversely, a case of social infertility may not involve biological dysfunction, but may nonetheless be harmful because it is stops the person from achieving his or her procreative goals.

It seems that we cannot reach agreement over whether infertility is a disease, even with our best theories of disease. How, then, are we to evaluate whether infertility warrants state-funded treatment? Perhaps a more favourable approach would be to shift the focus away from disease-status and instead explicitly address the specific ethical issues raised by infertility. The philosopher Dr Marc Ereshefsky argues that focusing too narrowly on the concept of disease in controversial cases can obscure the issues that are relevant to medical discussions of such cases (9)

Rather than worrying about whether or not infertility is a disease, I suggest that we should keep the debate centred on the key ethical issues. We need to focus on the distress associated with childlessness, the right to reproductive liberty, the perceived significance of genetic relatedness, the influence of pronatalism, and the structural inequalities that make it difficult for people from certain groups to form their desired families. These are the considerations that we should examine when debating whether fertility treatments should receive state funding. 


16 October 2017 - by Dr Kay Elder 
Successful IVF treatment crucially depends on the culture systems used, which must provide an optimal environment for healthy embryo development. Yet most embryos arrest in culture; human embryo culture has long been based upon research into animal systems...
18 September 2017 - by Dr Michelle Rodgers 
In 1948, UK health secretary Aneurin Bevan spearheaded the creation of the National Health Service with the aim of providing healthcare access to all, irrespective of a patient's financial situation. The NHS has since become the world's largest publicly funded health service...
11 September 2017 - by Dr Mary Yarwood 
Cambridgeshire and Peterborough Clinical Commissioning Group has removed funding for free IVF treatment, despite being the county where the procedure was first developed 40 years ago...
12 June 2017 - by Stuart Lavery and George Christopoulos 
The recent study from Dreyer et al examining the chance of natural pregnancy following hysterosalpingography has provoked a significant amount of interest in the lay press, with suggestions that this well established diagnostic fertility test could be offered therapeutically and be considered as an alternative to IVF...
13 March 2017 - by Dr Katie Howe 
Chinese scientists have successfully used genome editing to correct mutations in viable human embryos for the first time...


Preimplantation genetic screening: unvalidated methods discard healthy embryos

11 December 2017

By Norbert Gleicher

Medical Director, The Center for Human Reproduction and President, The Foundation for Reproductive Medicine, New York

Appeared in BioNews 930

A seemingly brilliant hypothesis of PGS (preimplantation genetic screening) arose in the 1990s when Dr Yuri Verlinsky (see BioNews 519) proposed using polar body biopsies to detect chromosomal abnormalities in embryos prior to transfer in IVF. The premise behind this test was to sample the discarded 'polar bodies' released as an egg matures and is fertilised to become an embryo. The polar bodies, like the egg, should have half the full set of chromosomes and so indicate the state of the egg.

The seemingly logical assumption was that using PGS to select chromosomally healthy embryos for use in IVF would produce higher implantation, pregnancy and live birth rates.  

Roughly 20 years and three generations of PGS later - its most recent one being preimplantation genetic testing for aneuploidy (PGT-A), - this add-on to IVF has as a hypothesis remained unconfirmed, and some of its expected benefits have actually been refuted.

Investigations of meiotic chromosomal defects via polar body biopsies biologically appear to make sense. Because they are technically challenging to perform they, however, never became popular. Commercial success came instead by performing biopsies on embryos on day 3 after fertilisation, at the cleavage stage, when one blastomere (sometimes two) was removed, and 6-8 chromosomes investigated with FISH (fluorescence in situ hybridisation). That moving PGS from polar bodies to cleavage stage embryos would no longer only test for meiotic but also for mitotic aneuploidies, was, however, largely dismissed as unimportant for accuracy of diagnosis.

Though never validated in predictability, sensitivity and specificity, this so-called PGS 1.0 quickly prospered. Genetic laboratories serving the IVF community, largely restricted to the testing of embryos for single gene and/or sex-linked diseases, saw an opportunity for market expansion. Though a few small prospectively randomised studies by Belgian investigators failed to demonstrate promised outcome benefits, the PGS community continued to claim outcome benefits, even after a prospectively randomised study by Dutch investigators in 2007 clearly suggested otherwise (1). This study, however, finally, set into motion an American Society for Reproductive Medicine (ASRM) review, which, later followed by other authoritative bodies, in 2008 ultimately declared PGS 1.0 ineffective (2).

As well as no benefits, the Dutch study actually suggested that, especially in older women, the procedure might negatively affect IVF outcomes (1). We had come to similar conclusions after reanalysing some of the above noted Belgian studies but had been unable to get our manuscript accepted for publication. After publication of the Dutch study, our manuscript was 'recalled' and published (3).

Following rebukes by ASRM and other professional organisations, the PGS community quickly rebooted under the argument that PGS 1.0 had failed only because of inadequate techniques and technologies. Progress in both was now possible through new more accurate diagnostic platforms: for example, moving the embryo biopsy from the cleavage stage of development to the later blastocyst stage meant more DNA was available for diagnosis as more cells (5-7) could be taken.

This new version, PGS 2.0, was again introduced to routine clinical use without prior validation studies, and quickly witnessed explosive growth.

Blastocyst-stage embryos, having undergone more cell divisions, will demonstrate more mitotic aneuploidies than cleavage-stage embryos that add to earlier meiotic aneuploidies. Embryo mosaicism – where there is a mix of chromosomal cell types, therefore, must increase between cleavage- (PGS 1.0) and blastocyst-stages (PGS 2.0). Mitotic aneuploidies have a very different clinical significance to meiotic aneuploidies: mouse and human stem cell experiments suggest that embryos possess an innate ability to self-correct these chromosomal abnormalities. Therefore, they denote a different risk profile for human embryos than meiotic aneuploidies.

All of this points toward increasing risks for false-positive diagnoses by moving biopsies from cleavage stage to blastocyst-stage. This was, however, again dismissed by the PGS community as insignificant for accuracy.

PGS 2.0 considered embryos with any amount of chromosomally abnormal DNA as 'aneuploid' and, therefore, unsuitable for transfer. This leads to the possibility that large numbers of potentially chromosomally normal embryos were erroneously discarded. In 2012, our IVF centre under experimental protocol, therefore, started offering patients who had no 'euploid' (chromosomally normal) embryos in IVF cycles, transfers of selected aneuploid embryos. These embryos had selected monosomies – with only one chromosome of a pair present, or later by 2014 this was expanded to selected trisomies – where there is an additional chromosome to a pair.

We reported the first five chromosomally healthy births from such transfers in October 2015 (4), shortly followed by similar results from Italian colleagues (5). By now, over 100 healthy pregnancies and deliveries have been reported worldwide following such transfers.

Considering these reports and blatant discrepancies in PGS results between prominent PGS laboratories, but also between multiple biopsies from same embryos in same laboratories (6), by July 2016, PGS 2.0 was no longer defensible. The Preimplantation Genetic Diagnosis International Society (PGDIS) published new PGS guidelines, which radically changed practice to PGT-A.

Based on a so-called 'threshold concept', PGS laboratories from this point on moved from the reporting of euploid/aneuploid to the reporting of euploid, mosaic and aneuploid. The diagnosis now depended on how much 'aneuploid' DNA a single biopsy specimen contained: with up to 20 percent DNA, embryos were considered 'normal-euploid'; between 20-80 percent 'mosaic'; and only if the aneuploid DNA load was above 80 percent, embryos were considered 'aneuploid'.

The PGDIS, however, offered no validation studies for these new definitions. Indeed, the 20 percent cut-off between euploid and mosaic was, likely, only a technical 'accident' because with currently available technology Next Generation Sequencing (NGS) is only able to detect mosaicism above 20 percent DNA load.

The new PGDIS guidelines also permit selected transfers of mosaic embryos. The irrationality of those guidelines is, however, demonstrated by an embryo with 19 percent mosaicism now being allowed to be transferred as 'normal'; yet an embryo with 21 per cent aneuploidy load is considered 'abnormal-mosaic' and not transferred.

Even the most current diagnostic methods utilised by the PGS industry make little sense biologically: detection of mitotic (in contrast to meiotic) aneuploidies depends on where in the embryo a biopsy is taken from. If the trophectoderm (the outer layer of cells in the embryo) is overwhelmingly euploid and, by accident, a biopsy is taken from a small aneuploid clone, resulting in all 5-7 cells of the biopsy being aneuploidy, the embryo will under new PGDIS guidelines be declared aneuploidy - though very likely a false-positive diagnosis. The reverse can also happen to give a false-negative diagnosis.

In both situations, the embryo is, however, really mosaic yet not recognised as such under the new PGDIS guidelines. These define an embryo as mosaic only if, again by accident, a borderline area between normal and abnormal cells is biopsied, resulting in a mix of euploid and aneuploid cells. PGDIS guidelines thereby greatly underestimate the true prevalence of trophectoderm mosaicism.

In other words, a single 5-7-cell trophectoderm biopsy is mathematically incapable of accurately determining the true status of the complete trophectoderm (9). Moreover, the trophectoderm - from which the placenta arises, does not always fully reflect the inner cell mass, from which the fetus arises. As has been known for decades, aneuploid clones are quite common in mature placentas of perfectly normal pregnancies with euploid offspring.

In summary, three iterations of PGS have failed in improving IVF outcomes - the basic motivation of the PGS hypothesis. More likely is that as a consequence of discarding good quality embryos because of frequent false-positive diagnoses, the procedure in poorer prognosis patients appears to reduce pregnancy and live-birth chances. Paulson recently calculated this risk at about 40 percent (10). We believe that it is even higher.

The paradox, however, is that the PGS community has for over 20 years constantly presented new excuses for the lack of promised outcomes, and persistently moved goal posts and demanded that critics prove their point, when basic rules of medical evidence mandate that the burden of proof lies with proponents of new treatments. After two decades of clinically unproven utilization of PGS, the erroneous disposal of thousands of perfectly normal embryos, it is time for proponents of PGS/PT-A to finally prove, beyond reasonable doubt, that the procedure does indeed have clinical value. Until then, PGS 3.0 should not be offered as routine add-on to IVF, except in such validation studies and under experimental consents.

1) Mastenbroek S et al. In vitro fertilization with preimplantation genetic screening N Engl J Med. 2007 Jul 5;357(1):9-17. 

2) Practice Committee of the American Society for Reproductive Medicine, Preimplantation genetic testing: a Practice Committee opinion. Fertil Steril 2008; 90:S136-143

3) Gleicher N, Weghofer A, Barad D. Preimplantation genetic screening, 'established' and ready for prime time? Fertil Steril 2008;89(4):780-788

4) Gleicher N, Vidali A, Braverman J, Kushnir VA, Albertini DF, Barad DH., 2015. Further evidence against use of PGS in poor prognosis patients: report of normal births after transfer of embryos reported as aneuploid. Fertil Steril 2015;104(Suppl) 3:e9

5) Greco E, Giulia Minasi M, Florentino F., Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N Engl J Med 2015; 373:2989-2090

6) Gleicher N, Vidali A, Braverman J, Kushnir VA, Barad DH., Hudson C, Wu YG, Wang Q, Zhang L, Albertini DF. Accuracy of preimplantation genetic screening (PGS) is compromised by degree of mosaicism of human embryos. Reprod Biol Endocrinol 2016;14:54

7) Munné S, Blazek J, Large M, Martinez-Ortiz PA, Nisson H, Liu E, Tarozzi N, Borini A, Becker A, Zhang J, Maxwell S, Grifo J, Barbariya D, Wells D, Fragouli E. Detailed investigation into the cytogenic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing. Fertil Steril 2017; 2017.05.002

8) Kushnir VA, Darmon S, Albertini DF, Barad DH, Gleicher N. Degree of mosaicism in trophectoderm does not predict pregnancy potential: a corrected analysis of pregnancy outcomes following transfer of mosaic embryos. Submitted for publication;

9) Gleicher N, Metzger J, Croft G, Kushnir VA, Albertini DF, Barad DH., 2017. A single trophectoderm biopsy at blastocyst stage is mathematically unable to determine embryo ploidy accurately enough for clinical use. Reprod Biol Endocrinol 2017;15(1)23

10) Paulson RJ. Preimplantation genetic screening: what is the clinical efficiency? Fertil Steril 2017;108(2):228-230



26 September 2016 - by Dr Nicoletta Charolidi 
There was a captivating debate around the emerging genetic choices, legal framework and ethical issues from the use of PGS (pre-implantation genetic screening) and PGD (pre-implantation genetic diagnosis) at this event produced by the Progress Educational Trust (PET)...
03 August 2009 - by Ailsa Stevens 
Renowned fertility expert Dr. Yury Verlinsky died from colon cancer at the age of 65 on 16th July 2009. He was famous for pioneering the development preimplantation genetic diagnosis (PGD) in the 90's, a technique which allows couples with a serious inherited disease in the family to screen their embryos against the condition. The technique has been used by families at risk of some 200 genetic disorders, including haemophilia, sickle cell anaemia, muscular dystrophy, Tay-Sachs disease, cystic...
13 July 2009 - by Dr Joyce Harper 
Preimplantation genetic screening (PGS) for aneuploidy was first reported by Verlinsky et al (1995) and Munne et al (1995). Both of these initial studies analysed polar bodies. The aim of the technique is to help determine the best IVF embryo for transfer on the grounds of the polar body or embryo's chromosomes, by performing biopsy and analysis of the chromosomes using fluorescent in situ hybridisation (FISH). There have been hundreds of papers on the use of PGS. It is well known that for pa...


First US baby born after uterus transplant

11 December 2017

By Sam Sherratt

Appeared in BioNews 930

A woman in Texas has become the first person in the USA to give birth after receiving a uterus transplant.

The anonymous patient has a genetic condition called Mayer-Rokitansky-Küster-Hauser syndrome. Born without a uterus, she was unable to carry a child without medical intervention. Doctors at Baylor University Medical Centre in Dallas managed to successfully transplant a donor uterus into her body to allow her to conceive through IVF.

'It doesn't really matter how many babies you've delivered, this was a very special moment,' said Dr Giuliano Testa, head of the study, speaking to NPR.

Originally pioneered in Sweden several years ago, the transplant procedure involves removing a healthy uterus from a living volunteer or recently deceased donor. The donated tissue is then used to replace the absent uterus. 

Doctors at Baylor have been running a study attempting to replicate the procedure in US patients. So far four women have received transplants at Baylor (see BioNews 872), but this is the first to successfully result in pregnancy. The other three transplanted uteruses had to be removed due to insufficient blood flow.

One of the Swedish doctors involved in the study, Dr Liza Johannesson, told NPR: 'For the recipient, the transplant itself takes about five hours... Then after you have the transplant, you don't have an immediate success. First you have to know the uterus is staying with the recipient.'

The transplants themselves are meant to be temporary, as they require the patient to take powerful immunosuppressant drugs to prevent rejection. Once doctors are certain the transplant will not be rejected, the women are impregnated through IVF. After a woman successfully carries a child to term, the transplanted tissue can be removed.

The American Society for Reproductive Medicine also issued a statement calling the birth in Texas 'another important milestone in the history of reproductive medicine'. So far only around 16 uterus transplants have been performed worldwide, including some that failed to produce successful pregnancies. However, last month Penn Medicine in Philadelphia, Pennsylvania, announced a clinical trial offering uterus transplants. 

It’s hoped that one day the procedure may also be able to help women with uteruses damaged by cancer, infectious diseases or previous childbirths.


21 November 2016 - by Dr Natasha Hammond-Browning 
Sixteen uterus donations have occurred worldwide, and so far only a research team in Sweden has carried out transplants that successfully produced live births. The Swedish trial involved donations from living persons...
17 October 2016 - by Dr Nicola Williams 
This symposium was organised to facilitate in-depth discussion as well as international and interdisciplinary collaboration between academics and clinicians with an interest in uterus transplantation (UTx), which would allow women who lack a functioning uterus to become pregnant and give birth to their own babies...
10 October 2016 - by Sarah Pritchard 
Four women in the USA have become the first in the country to receive uteruses transplanted from living donors...
12 October 2015 - by Nina Chohan 
Ethical approval has been given for clinical trials involving ten womb transplants in the UK to go ahead....


Gene therapy hope for haemophilia

11 December 2017

By Charlotte Spicer

Appeared in BioNews 930

Scientists have successfully used gene therapy to prevent bleeding in a small trial of patients with the inherited blood disorder haemophilia B.

A one-time treatment of the therapy was sufficient to safely produce sustained levels of a critical blood clotting factor up to one year later, alleviating the need for further medical intervention.

'This is a major milestone in the quest to cure the bleeding disorder,' said co-author Professor John Rasko, at the Royal Prince Alfred Hospital, Sydney, Australia. 'Those people in the trial have previously had to live with the risks of spontaneous bleeding every day.'

Haemophilia B affects around one in 30,000 boys and men and is caused by a deficiency of the factor IX blood clotting factor. Patients rely on regular clotting factor infusions as often as three times a week to prevent debilitating bleeding episodes.

In the phase 1/2 clinical trial, funded by Spark Therapeutics and Pfizer, researchers at the Royal Prince Alfred Hospital injected ten men with a modified version of the factor IX gene that codes for a clotting factor that is 8-12 times stronger than the normal factor.

Prior to the trial, all ten participants had factor levels less than 2 percent of the normal value. After one infusion of the gene therapy, all produced sustained levels of clotting factor of approximately 30 percent, up to 18 months after the treatment. Nine of the ten patients had no bleeds over the one-year follow-up period and eight of the ten did not require any further standard treatments. None of the patients experienced serious side effects.

'It's definitely the best thing I've seen so far in terms of consistency of responses in patients, in terms of minimal side effects, in terms of overall efficacy,' Dr Thierry VandenDriessche at the Free University of Brussels in Belgium, who was not involved in the research, told Genetic Engineering & Biotechnology News.

Professor Rasko said that the therapy could be 'life-changing' but added that it was still early days. Long-term follow-up will determine whether the effect will last beyond the 18 months of the trial.

According to co-author Dr Lindsey George of Children's Hospital of Philadelphia, Pennsylvania, the researchers plan to continue the development of the therapy in a Phase 3 trial. 'I am optimistic this study is just the beginning of a true paradigm shift in the treatment of haemophilia,' she concluded.

The results of the clinical trial are published in The New England Journal of Medicine.


18 December 2017 - by Sam Sherratt 
A new gene therapy for haemophilia A has exceeded expectations in a recent clinical trial...

16 February 2015 - by Arit Udoh 
Sanofi has signed a partnership deal worth potentially US $845 million with Voyager Therapeutics, a comparatively small biotech firm, making it the latest major pharmaceutical firms to commit financially to gene therapy research...
15 December 2014 - by Sean Byrne 
Pfizer has entered into a deal with biotech company Spark Therapeutics to conduct research into gene therapy for haemophilia B...
19 December 2011 - by Dr Zara Mahmoud 
Scientists have successfully used gene therapy to alleviate the symptoms of the blood disease haemophilia B in six human volunteers, raising hope for a potential cure. The study has been hailed as a landmark trial for gene therapy...
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...


Large volumes of stem cells collected during caesareans

11 December 2017

By Emma Laycock

Appeared in BioNews 930

An efficient method to collect amniotic fluid rich in stem cells during caesarean sections has been developed by scientists in Sweden.

Amniotic fluid is the protective liquid that surrounds a fetus, and is normally discarded as medical waste. Researchers at Lund University used a specially designed device to collect large amounts of the fluid during caesarean sections, tapping into a very large source of stem cells.

'We showed that using our device, we can collect up to a litre of amniotic fluid at full-term caesarean deliveries. The collection added on average 90 seconds to the operation, and was safe for both mother and child,' said Dr Andreas Herbst a lead clinician and senior author of the study. 

The collection device, made by 3D printing bio-inert plastics, forms a seal with the fetal cavity, allowing safe and gentle collection of amniotic fluid. Researchers collected on average about 400 millilitres of amniotic fluid per caesarean, compared with about 10 to 20 ml from previous studies. Researchers can then filter and purify the fluid to harvest specialised mesenchymal stem cells, or MSCs. 

These stem cells can differentiate into various cell types and have demonstrated therapeutic potential for immune and inflammatory-mediated disorders, such as arthritis. MSCs can be obtained from many adult and neonatal sources, such as the bone marrow, but are difficult to harvest. 

'Full term amniotic fluid, being an easily obtainable and abundant tissue source, may be the solution for MSC-based cell therapy and regenerative medicine applications,' said Dr Niels-Bjarne Woods, another study author. 

The researchers found that the amniotic fluid MSCs multiplied quickly compared with those from other sources. They then successfully converted the purified amniotic fluid MSCs into 'pluripotent stem cells', which can potentially give rise to any cell in the body. 

Being able to collect, select and cultivate these stem cells 'could be transformative for the stem cell field', said Dr Marcus Larsson, a clinician and co-author. 'The obvious next step would be to evaluate these cells further in the laboratory and, if successful, in disease models.' 

Based on the new research, the inventors and Lund University Innovation Systems have formed a company, Longboat Explorers AB. The research was published in the journal Stem Cell Research & Therapy.


27 November 2017 - by Ewa Zotow 
Paraplegic rats were able to walk after being treated with human stem cells. This is the first time lower body movement has been restored after an animal's spinal cord has been completely severed...
20 November 2017 - by Jenny Sharpe 
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...
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.


Gene therapy directed straight to the brain works in mice

11 December 2017

By Ewa Zotow

Appeared in BioNews 930

Scientists revealed an innovative method which can be used to transplant blood-forming (hematopoietic) stem cells directly into the brain. The technique may provide a quicker and more effective way of treating diseases of the central nervous system compared with the standard, indirect mode of delivery.

The technique, reported in Science Advances, involved transplanting donor-derived hematopoietic stem cells (HSCs) directly into the lateral ventricles of the brain, from where they could deliver therapeutic molecules to affected tissues.

Researchers in the USA and Italy used a mouse model of a lysosomal storage disease, a group of metabolic disorders affecting the central nervous system. The disease causes a build-up of material which leads to neurodegeneration.

Until now, the HSCs were administered intravenously and affected the brain indirectly through bone marrow engraftment, a process where stem cells make their way through the bloodstream to the bone marrow and start producing new blood cells. This process is slow and can be inefficient in treating disorders where fast action is required.

'The main issue with the conventional HSC transplant strategy has been the length of time needed for the therapy to take effect in the brain,' said study lead Dr Alessandra Biffi, at the Dana-Farber Cancer Institute, Boston Children's Hospital in Boston, Massachusetts. 'It can take up to a year for the genetically-engineered cell lineage to proliferate, spread and produce therapeutic effects in the brain—oftentimes, patients don't have the luxury of time to wait.'

The HSCs transplanted directly to the brain showed faster effects than the HSCs administered intravenously. The transplant led to more rapid generation of new myeloid cells, which help to decrease the build-up of the excess material responsible for the damage to the nervous system.

Importantly, the donor-derived cells showed the same characteristics as cells of healthy animals. The transplanted cells were also detected in the brain only and not in the other parts of the central nervous system.

The team hopes the work could pave the way for prevention and treatment of lysosomal storage diseases as well as other neurodegenerative disorders such as Alzheimer's or Parkinson's.

Although the method may seem too invasive to be used in humans '[the treatment] would be in line with currently-used clinical procedures that enable access to the brain for treatment' said Dr Biffi.


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 Caroline Casey 
Neurons derived from human stem cells have successfully been used to treat and relieve symptoms of Parkinson's disease in a primate animal model...
06 February 2017 - by Caroline Casey 
A novel gene therapy technique has partially restored hearing and balance in deaf mice...
15 June 2015 - by Hannah Somers 
Two US studies have identified specific genetic mutations in gliomas which correlate with how the tumours will behave and respond to treatment...


Surrogate sues clinic for using embryos without consent

11 December 2017

By Theofanis Michailidis

Appeared in BioNews 930

A woman who acted as surrogate for friends has sued the fertility clinic where she was treated, after it transferred one of the unused embryos made using her eggs to impregnate the same couple, without her consent. 

Alicia Chonn, from Vancouver, Canada, originally agreed to act as a gestational surrogate for her friends (referred to as Jane Doe and John Doe for privacy) who were unable to conceive.

'These are two people that I love very much, and so I had set out to just really want to help them and bring happiness to them and really felt they deserved to be parents.' Chonn explained in an interview with CBC. 'It was just as simple as, I carry the baby, no problem.'

Attempts to establish a pregnancy using embryos created from Jane and John's gametes were unsuccessful and so Chonn offered to use her own eggs. They were fertilised in vitro with John's sperm and the resulting embryos used to establish a pregnancy. The process was successful, with Chonn giving birth in March 2015 and relinquishing all rights to the child.

In December 2015, Chonn received a phone call from the fertility clinic, who were 'hurriedly and forcefully asking her to consent' for one of the embryos created from her eggs to be used to impregnate Jane.

Chonn had never intend for her egg to be used in such a manner and asserts that she 'was in a state of shock and surprise and did not issue her consent to the procedure'. However the embryo transfer did take place and Jane gave birth to a son in August 2016.

'I had committed and agreed to the one child, I fulfilled and lived up to my word. And anything else after the fact, I feel quite strongly was never discussed,' stated Chonn.

Scott Stanley, Chonn's lawyer, said: 'The law is quite clear that in order to use someone's tissue, [donors] have to provide written consent and that it needs to be informed, if you're going to use that tissue for reproductive purposes.'

Chonn feels that the clinic used her for profit (surrogates are not paid in Canada but clinics can charge five-figure fees) and believes that the doctors acted 'incorrectly, negligently and maliciously' in attempting to construe her consent. She questions why she was asked to endure the pain and difficulties of pregnancies and childbirth, if it was always a possibility that Jane could become pregnant using a donor egg.

The civil claim, filed in the British Columbia Supreme Court alleges that the clinic's actions have caused her to suffer from depression, anxiety and post-traumatic stress disorder. Chonn is seeking unspecified financial damages to cover costs of ongoing therapy and counselling.

Chonn is not seeking damages from Jane and John; although currently estranged from them she has expressed hope for a reconciliation, so she can have the 'opportunity to spend time with those children', CBC reports.


18 December 2017 - by Theofanis Michailidis 
A retired fertility doctor who used his own sperm to inseminate patients will not be jailed for his actions...

04 December 2017 - by Jennifer Willows 
Of Kith and Kin is a play about surrogacy that seems to have very little to say about surrogacy...
20 November 2017 - by Nina Chohan 
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...
06 November 2017 - by Antony Blackburn-Starza 
A US surrogate has been united with her genetic child who she carried alongside the intended parents' embryo in an apparent case of superfetation... 


Blood test could warn of return of skin cancer

11 December 2017

By Shaoni Bhattacharya

Appeared in BioNews 930

UK scientists say they are closer to developing an 'early warning system' for the return of cancer in patients using a simple blood test.

A study in 161 patients with malignant melanoma found a blood test for specific gene mutations was predictive of which patients would relapse after surgery to remove their cancers.

'Being able to develop an early warning system that will predict if a cancer will return could make a real difference to patients,' said Professor Karen Vousden, Cancer Research UK's (CRUK's) chief scientist. 'If follow up research shows that this test can be used to inform treatment decisions and improve outlook, it could be a game-changer in our ability to deal with advanced skin cancer.'

The team led by scientists at the CRUK Manchester Institute and the Christie NHS Foundation looked for circulating tumour DNA (ctDNA) – shed by cancer cells – into the blood for two known mutations associated with skin cancer. They analysed blood samples taken after surgery for mutations in the genes BRAF and NRAS – linked to 70 percent of melanomas.

Patients who had ctDNA in their blood after surgery had a shorter time to relapse than those without any detectable levels of ctDNA, found the study. And patients with detectable ctDNA for either mutation were much less likely to be alive five years later, with 33 percent surviving, than those whose blood showed no tumour DNA of whom 65 percent were still alive.

'For some patients with advanced melanoma, their cancer will eventually return. We have no accurate tests to predict who these patients will be, so our findings are really encouraging,' said Professor Richard Marais, lead researcher and director of the CRUK institute, based at the University of Manchester. 'If we can use this tumour DNA test to accurately predict if cancer is going to come back, then it could help doctors decide which patients could benefit from new immunotherapies.'

The study was published in Annals of Oncology.

Cancer Research UK | 06 December 2017
Annals of Oncology | 03 November 2017
The Independent | 06 December 2017
Manchester Evening News | 06 December 2017


18 December 2017 - by Dr Loredana Guglielmi 
Scientists in the USA have found a novel non-coding gene that alters proliferation in cancer cells to help tumour development...

26 June 2017 - by Charlotte Spicer 
A new three-in-one blood test could progress personalised treatment for patients with prostate cancer...
12 June 2017 - by Hannah Somers 
A highly-sensitive DNA blood test could help detect cancer years before tumours are detected...
02 May 2017 - by Dr Loredana Guglielmi 
Blood tests for tumour DNA could predict relapse of the most common type of lung cancer up to one year before clinical signs show up on patient's scans...
13 March 2017 - by Dr Loredana Guglielmi 
Researchers have developed a new blood test that can not only detect cancer at an early stage, but can also indicate where the tumour is located in the body...
14 March 2016 - by Dr Lucy Freem 
Scientists have developed a blood test that captures tumour DNA from stray cancer cells circulating in the blood and allows them to monitor genetic changes in skin cancer...


New CRISPR technique reverses diabetes and kidney failure in mice without cutting DNA

11 December 2017

By Isobel Steer

Appeared in BioNews 930

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.

The research, published in Cell, provides proof-of-concept for a tool that could one day be used to reverse age-related diseases such as hearing loss and macular degeneration in humans.

'Although many studies have demonstrated that CRISPR/Cas9 can be applied as a powerful tool for gene therapy, there are growing concerns regarding unwanted mutations generated by the double-strand breaks through this technology,' says Professor Juan Carlos Izpisua Belmonte at the Salk Institute in La Jolla, senior author of the paper. 'We were able to get around that concern.'

The CRISPR/Cas9 system typically snips double-strand breaks (DSBs: cutting through both strands of the double helix in one place) in targeted regions of the genome in order to edit DNA. But a DSB is the most lethal type of damage a cell can sustain, so these breaks would be risky in the DNA of living humans. The researchers' aim was to create a new version of the CRISPR/Cas9 genome editing technology that can affect the activation of genes without cutting the DNA strand at all.

To do this the scientists used CRISPR guide RNAs and a a non-cutting version of the enzyme Cas9, combining the specificity of this approach with molecular switches which are known to be effective in manipulating the epigenome but are prone to off-target effects

The whole system proved too bulky for a single virus to deliver, so the team split the system into two viral delivery packages. 

As a proof-of-concept, Professor Belmonte's team used their new approach to treat several diseases, including type 1 diabetes, acute kidney disease, and muscular dystrophy in mice. In each case, they used their system to boost the expression of a specific endogenous gene which alleviated disease symptoms.

 'We are not fixing the gene, the mutation is still there,' said Professor Belmonte. 'Instead ... the mice recover the expression of other genes in the same pathway. That is enough to recover the muscle function of these mutant mice.'

The team is now working to improve the specificity of their system and to apply it to more cell types to treat a wider range of human diseases, as well as to reverse age-related conditions. More safety tests will be needed before human trials.


15 January 2018 - by Eleanor Taylor 
The ever-expanding limits of human reproduction are creating complex ethical and political challenges. One topic that has generated much contention is the possibility of editing the genome of human embryos...
08 January 2018 - by Isobel Steer 
A gene therapy has been used to restore normal blood sugar levels in mice with type 1 diabetes, according to a study published this month in the journal Cell Stem Cell.

20 November 2017 - by Helen Robertson 
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...
30 October 2017 - by Dr Rachel Huddart 
A new molecular tool to change individual letters in an RNA sequence may open up new possibilities for gene therapy...
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...


First trials of Huntington's drug show it could slow disease

11 December 2017

By Martha Henriques

Appeared in BioNews 930

A breakthrough trial has successfully reduced levels of the harmful protein that causes the neurodegenerative disease Huntington's.

In a study by scientists at University College London, 46 patients with the neurodegenerative disease were given injections of a drug called IONIS-HTTRx into their spinal fluid. By the end of the trial – the first time the drug has been tested in humans – patients had lowered levels of the harmful protein that causes brain cell damage. The patients tolerated the drug well, without severe side effects, the scientists reported. 

It is the first time that this protein – called huntingtin – has been lowered in patients' nervous systems. The greater the dose of the drug patients received, the less huntingtin protein was measured in their spinal fluid. In healthy people, the gene that encodes this protein is involved in brain development. In its mutated form in Huntington's patients, the protein it makes kills brain cells and leads to progressive decline in memory, cognitive ability, behaviour and movement. 

'You end up in almost a vegetative state, it's a horrible end,' Peter Allen, one of the early-stage Huntington's patients involved in the trial, told the BBC. 'You know the last day was better than the next one's going to be.'

The therapy targets the RNA transcript from the faulty huntingtin gene. The drug binds to the RNA transcript, triggering its destruction before it can go on to make the huntingtin protein. 

'For the first time we have the potential, we have the hope, of a therapy that one day may slow or prevent Huntington's disease. This is of ground-breaking importance for patients and families,' Professor Sarah Tabrizi, director of the Huntington's Disease Centre at UCL and leader of the trial, told the BBC.

Neurodegenerative disease researchers not involved in the study have also welcomed the results as a breakthrough. Professor John Hardy, a neurological disease researcher not involved in the study, told the Guardian: 'If I'd have been asked five years ago if this could work, I would have absolutely said no. The fact that it does work is really remarkable.'

However, the drug IONIS-HTTRx will need to be successful in further clinical trials before it could be confirmed as an effective treatment. The details of the study have not yet been published or scrutinised in peer-review, cautions Professor Tara Spires-Jones, UK Dementia Research Institute programme lead and Deputy Director of the Centre for Discovery Brain Sciences at the University of Edinburgh.

'With that caveat in mind, the approach used in this trial has excellent potential to prevent Huntington's disease, and if the next stage of larger trials live up to their promise, this will be a breakthrough,' Professor Spires-Jones said. 

The pharmaceutical firm Roche has already paid a $45 million licence fee to develop the drug. If it does become a successful treatment for Huntington's, researchers have suggested that a similar method could work for other neurodegenerative diseases, such as Alzheimer's. Similar drugs targeting the RNA for the faulty amyloid or tau proteins, involved in Alzheimer's, could potentially slow the disease. 

'Huntington's alone is exciting enough,' Hardy told the Guardian. 'I don’t want to overstate this too much, but if it works for one, why can’t it work for a lot of them? I am very, very excited.'


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...
12 June 2017 - by Lea Goetz 
Scientists have identified the first promising biomarker for Huntington's disease (HD) that could be harnessed in a simple blood test to predict disease onset and progression...
03 August 2015 - by Dr Victoria Burchell 
A genome-wide study of over 4000 people with Huntington's disease has identified the location several new gene variants that influence the onset of disease symptoms...


Radio Review: PM - Our Fertility Journey

11 December 2017

By Eleanor Taylor

Appeared in BioNews 930

PM: Our Fertility Journey

BBC Radio 4, October/November 2017

Presented by Sophie Sulehria

'PM: Our Fertility Journey', BBC Radio 4, October/November 2017

On the surface, public awareness of fertility issues seems to be high. The statistic that about one in every seven heterosexual couples experiences difficulties whilst trying to conceive is now very familiar thanks to the work of organisations such as Fertility Network UK. In addition, fertility clinics and the services that they provide are frequently discussed in the news – although not necessarily in a complimentary manner. Yet despite concerted efforts to reduce the stigma surrounding fertility struggles, there still appears to be a 'facelessness' to this incredibly common issue, which suggests that fertility is still very much a taboo subject.

This seems to be the reality for many of the patients who undergo fertility treatment at the clinic in which I work. Many opt not to tell their family, friends or colleagues that they are undergoing treatment until the outcome is known, if at all. As such, the intellectual understanding that 'starting a family can be difficult' is not always accompanied by an appreciation as to what fertility treatment actually entails on a practical and emotional level.

BBC reporter Sophie Sulehria and her husband, Jonny Baker, have decided to tackle this issue by creating a series of radio features documenting their own personal fertility journey. These interviews, which are being broadcast as part of BBC Radio 4’s PM show, follow the day-to-day realities of undergoing fertility treatment and the process of deciding what to do next if that treatment fails.

Sophie and Jonny have opted to document their experience in real-time, with very little retrospective reporting. The result is an incredibly special radio series which is full of very raw and complex emotions. The honesty and vulnerability that the couple exhibit across the series has a very powerful effect; it allows the listener to gain a deep understanding of the internal struggles that can happen when all attempts at trying to start a family fail.

To date, four features have been broadcast, with each one focusing on a different point in the couple's fertility journey. We start by meeting Sophie and Jonny as they embark on their sixth and final round of IVF treatment. The couple originally started trying for a baby in 2013, but after Sophie was diagnosed with premature ovarian failure and endometriosis the couple were told that fertility treatment would be their only option for achieving a pregnancy.

The listener gets to follow the couple over the course of a month as they attend appointments at their fertility clinic right up to the point of their pregnancy test. As Sophie fluctuates between optimism and deep worry the listener starts to appreciate why IVF treatment is often likened to a rollercoaster ride. Every step in the IVF process represents a hurdle that needs to be cleared: will the stimulation drugs work? Will the egg collection yield any eggs? Will the eggs fertilise? Will the embryos be good quality? At any point one of these hurdles can topple and the treatment will be over. Sadly towards the end of Sophie and Jonny's treatment it becomes apparent that there is only one slow-developing embryo available for transfer and the couple do not become pregnant.

The second instalment of the series is rather different. The host of PM, Eddie Mair, interviews the couple about their experience of undergoing fertility treatment and how they are coming to terms with not having a biological child of their own. Mair is incredibly forthright in his questioning and at some points his boldness can feel quite unnerving. However, the couple do not shy away from his direct questions and talk candidly about the all-consuming nature of the 'IVF train' and the ways in which their grief has manifested. Both Sophie and Jonny express how difficult it is to be around women who are pregnant and how challenging occasions such as Mother's day, Father’s day and their wedding anniversary can be.

One of the most striking things about this interview is the difference in Sophie and Jonny's perspectives. Jonny seems to be ready to find an alternative way of creating a family, Sophie is open about her continuing struggle to accept the fact that her body has not be able to perform its 'expected' role and that she will never meet her own biological child: 'It can be an embarrassment to feel that you can't have children. It's something that, as a women, it should be the most natural thing in the world. The death of genetics is just heartbreaking.'

During the final two episodes, Sophie and Jonny tentatively start to explore the alternative ways of becoming parents. They first interview a couple who had undergone successful fertility treatment in the Czech Republic using donor eggs. Then they speak to a couple who had created their family through adoption.

The egg donation interview is particularly moving. This is perhaps the highlight of the entire series so far; it really demonstrates the cathartic power that can come from speaking to someone who has a gone through a similar experience. Sophie is able to openly discuss her concerns about using donor eggs with Claire, the successful egg recipient. She is particularly worried that she will simply feel like an 'incubator' for the baby that her husband has created with another woman. Claire eloquently describes how the concept of epigenetics allowed her to 'make peace' with the idea of using donor eggs – how her child would have turned out slightly differently if the pregnancy had occurred in another woman and how she therefore contributed to the unique nature of her child. It is clear from these latter interviews that Sophie and Jonny's journey to parenthood has only really just begun.

As a whole, the radio series achieves what it sets out to do. It offers listeners a window into the tumultuous world of assisted reproduction and demonstrates just how pervasive the desire to start a family can be when all attempts to conceive naturally fail. It is open and honest and isn't afraid to shine a spotlight on the darker emotions that can descend when future plans seem unattainable.

It is very easy as a listener to become invested in Sophie and Jonny's journey and I would thoroughly recommend the series to anyone who has experienced their own fertility struggles. The series would also be of benefit to anyone wanting to gain an understanding of how best to support friends or family through fertility treatment.



06 November 2017 - by Helen Robertson 
Using just one embryo during IVF results in a much higher chance of a healthy pregnancy and birth, according to a study presented at the annual meeting of the American Society for Reproductive Medicine...
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...
15 May 2017 - by Fiona Duffy 
When I was first asked to review this book, written by Fiona Whyte and Sean Malone, I can’t say that I was full of enthusiasm at the prospect. I had seen the television documentary, heard some of the radio interviews and the ensuing long discussions concerning the thorny issues raised by the authors...
13 March 2017 - by Dr Mary Yarwood 
How can you long for someone who doesn't exist? Diane Chandler's second novel charts the story of Cat and Dom as they attempt to have a child through fertility treatment...



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