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The Fertility Show, Manchester Central, 24-25 March 2018

Issue 891 (06 March 2017)


Welcome to BioNews by email, published by the Progress Educational Trust, providing you with news, comment and reviews on genetics, assisted conception, embryo/stem cell research and related areas.

Visit the BioNews website at where you can subscribe for free to receive BioNews by email in one of three formats, and search the archive of more than 6,000 articles.





News Digest




Ethics report on non-invasive prenatal testing raises questions of its own

06 March 2017

By Nick Meade

Director of Policy, Genetic Alliance UK

Page URL: Appeared in BioNews 891

The Nuffield Council of Bioethics' new report on non-invasive prenatal testing (NIPT) came with a press release: 'New pregnancy testing technique needs limits says ethics body', which in more than 1000 words could not muster more than two sentences on positive attributes of the 'breakthrough' technology (see News) .

NIPT is a safe, non-invasive technique that brings no risk of miscarriage and can provide accurate information earlier in pregnancy than is currently possible. It is, in the view of Genetic Alliance UK, a leap forward in the quality of information provided to women during pregnancy.

Alongside the press release, Nuffield have also produced 'key findings' (2 pages), a 'short guide' booklet (20 pages), and the full report (170 pages). As the detail increases, so does the balance and breadth of discussion. There are a broad range of applications of this technology: for testing pregnancies at known familial risk of rare genetic conditions; as a new component of prenatal screening programmes; to determine fetal sex; and, as we are in an era of growth in genomic technologies, as a route to understand far more detail about the fetus's genetic status.

The working group that published the report made the choice to use the term non-invasive prenatal testing (NIPT) for all uses of the technology. To date, it has been standard practice to use NIPT to refer to the screening use, and non-invasive prenatal diagnosis (NIPD) for its use in diagnostic tests for specific genetic conditions. The rationale for this choice is explained in detail in the full report, but we regret both the decision – as it makes the message far less clear – and its lack of visibility in shorter versions of the report.

We received the impression at the launch event that the working group felt that the use of the technology in the rare-disease context was a non-contentious accepted use, and that this is why the area of use has not been more prominent in coverage and summaries of the report. For such a new technique that is still not widely used or understood by the public, we believe the technology should continue to be presented and discussed in the round, with the various applications clearly delineated in discussion. If we do not do this, discussion of the risks associated with certain applications could damage public perception of the broader technology.

At the same launch event, we sought clarification on which qualities of NIPT  brought up ethical concerns that have not arisen (to the same degree) around other sources of information for women on their pregnancy. In the UK, the 8–14-week and the 18–21-week scans are well understood milestones at which fetal problems can be detected. They have not been labelled as posing a risk to societal attitudes to people affected by health conditions. During the scans, we monitor fetal movement, heartbeats and estimate weights. Again, these tests and information sources are not considered to pose an ethical challenge. It is current standard practice to use invasive tests when screening shows up chromosome abnormalities, but this practice is not usually considered to create a discriminatory environment.

We do not believe that non-invasive prenatal testing/diagnosis needs any limits that are not already applied to other sources of information about pregnancies – such as ultrasound, blood tests, and invasive prenatal testing.

The report also expresses the concern that women are not given a balanced description of conditions' impact on families – a concern that is not directly related to the technology under discussion. We always support efforts to ensure that accurate information is supplied to women making reproductive choices, but we do not see any evidence of systematic flaws or imbalances in the current provision of evidence.

Another central theme in the report, which was applied to both the use in screening and for diagnostic tests, was how people affected by genetic conditions feel when reproductive choices are made to avoid having a child affected by that genetic condition.

Patients, families, couples and women supported by Genetic Alliance UK's member groups view reproductive choice as one of the few ways they can take control of the condition affecting their family. For those at risk of having a child affected by a single-gene disorder, it is very rare to become aware of this risk without personal experience of the condition.

In some cases, one member of the couple making a reproductive choice will be living with that specific condition. A late-onset condition may not have become symptomatic yet, but they will have seen one of their parents and/or grandparents become ill because of the condition. Alternatively, a couple will have become aware that they are at risk of having a child with a recessive condition after having had a pregnancy and/or a child affected by that condition. They may be living with a child affected by the condition, grieving for a child who died from that condition, or dealing with the termination of a pregnancy affected by that condition.

Members of our team discuss techniques such as NIPT and NIPD with people who have used them, intend to use them or, in some cases, who regret that the technology did not exist in time for them. We hear the message again and again that they love and would do anything for their family member affected by that specific genetic condition, but that they cannot or could not have a child (or another child) affected by that condition.

The reasons for these views are specific to every individual situation. The way they deal with that view differs too. Some choose not to have any more children, some use reproductive-choice techniques to ensure that their next child is not affected. Some make an informed choice to have a child naturally. A minority in our member communities do not wish to use certain reproductive-choice techniques. All of these possibilities exist in the UK because we have a system built around choice.

There is no 'must' in Genetic Alliance UK's views on reproductive choice. We absolutely support anyone's reproductive decision in the context of genetic conditions. We disagree with those that believe there should be 'must nots' in this arena – who believe that others should not have a particular type of reproductive technique available to them. Those who do not believe in a particular approach to reproductive choice are free not to use it. We should remember the imbalance in these arguments: when we restrict reproductive-choice options, no one gets to use them; when we make reproductive-choice options available, it's an individual decision whether or not to take up that option.

These are some of the most difficult decisions and actions that women ever have to take. We should welcome new options and new sources of information that become available to the women who have to take these decisions.

Genetic Alliance UK was a partner in the RAPID non-invasive prenatal testing (NIPT) evaluation study.



04 September 2017 - by Dr Rachel Huddart 
Current prenatal chromosome screening tests could miss rare chromosomal abnormalities and lead to inaccurate results...

06 March 2017 - by Emma Laycock 
The Nuffield Council on Bioethics has called for a ban on using early prenatal testing to find out the sex or sequence the whole genome of the fetus...
28 November 2016 - by Dr Helen O'Neill 
When it comes to prenatal genetic testing and screening, informed consent is crucial. These seven videos from the US help patients to understand what's involved...
07 November 2016 - by Dr Rachel Huddart 
A more accurate and safer prenatal test for Down's, Edwards' and Patau's syndromes is to be offered by the NHS from 2018, it has been announced...
30 August 2016 - by Dr Ainsley Newson 
Jane Fisher and Lyn Chitty highlight in BioNews 864 that it's been almost nine months since the UK National Screening Committee recommended an 'evaluative implementation of NIPT into the NHS's antenatal screening programme – a recommendation that still awaits ministerial decision...
15 August 2016 - by Jane Fisher and Professor Lyn Chitty 
A central tenet of prenatal testing is to promote reproductive autonomy by providing women with information that can assist in pregnancy management. Bringing NIPT into the NHS will improve an established screening programme...


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Use of prenatal tests 'must be limited', say bioethicists

06 March 2017

By Emma Laycock

Page URL: Appeared in BioNews 891

The Nuffield Council on Bioethics has called for a ban on using early prenatal testing to find out the sex or sequence the whole genome of the fetus.

Non-invasive prenatal testing (NIPT) is a simple blood test which analyses fetal DNA in a pregnant woman. From 2018, the NHS will offer the test for high-risk pregnancies at nine weeks to screen for Down's syndrome and other conditions (see BioNews 876).

Professor Tom Shakespeare of University of East Anglia, chair of the Council's Working Group on NIPT, said: 'We support the introduction of this test for Down's syndrome on the NHS next year, so long as it is accompanied by good balanced information and support. But, if the test is used without limits for other kinds of genetic conditions and traits, it could lead to more anxiety, more invasive diagnostic tests, and could change what we think of as a healthy or normal baby.'

The report also cites the right of a future child to find out their own genome for themselves.

'That's why we are calling for a moratorium on its use in sequencing the whole genome of the fetus. We also strongly believe there should be a ban on its use to find out the sex of the fetus, as this could lead to sex-selective abortions,' said Professor Shakespeare.

The council recommends that NIPT should generally only be used to find significant medical conditions that would affect a baby at birth or in childhood. They also warned that many clinics which offer genome sequencing are unable to properly explain the significance of the information provided by the tests.

Dr Louise Bryant of the University of Leeds and a member of the Council's Working Group on NIPT, said: 'The information currently provided to women and couples by the private sector is frequently incomplete, unsubstantiated, inaccurate or misleading, and sometimes uses emotive language.'

'Parents should also be provided with an up-to-date picture of what life is like for people with the condition,' said Dr Bryant. 'In some cases it can have minor effects on people's lives, whilst in others the effects are more significant. Women and couples must get balanced information and support to help them make decisions that are right for them.'

Other experts have deemed the Nuffield Council's report as 'poor quality' and 'disappointing'.

'The proposed restriction to neonatal and childhood onset conditions excludes conditions such as early-onset dementia and neuromuscular disorders, which can be extremely serious and can cause enormous amounts of pain to families,' said Mr Alastair Kent, Director of Genetic Alliance UK.

The British Pregnancy Advisory Service said the report 'seems permeated by a mistrust of women and the reproductive choices they make'.

NIPT is already given by the NHS to women at high-risk of passing on genetic conditions, such as cystic fibrosis. The introduction of NIPT next year to estimate the chance of Down's syndrome should mean fewer false results and less invasive diagnostic testing, which carries a small risk of miscarriage. 


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...
04 September 2017 - by Dr Rachel Huddart 
Current prenatal chromosome screening tests could miss rare chromosomal abnormalities and lead to inaccurate results...
06 March 2017 - by Nick Meade 
The Nuffield Council of Bioethics' new report on non-invasive prenatal testing is unnecessarily negative and encroaches on women's reproductive choices...
06 March 2017 - by Matthew Thomas 
Dr Kat Arney leads a fascinating and wide-ranging discussion of genetic testing – from testing for cancer genes to whether your child's DNA can predict their future sporting ability...

07 November 2016 - by Dr Rachel Huddart 
A more accurate and safer prenatal test for Down's, Edwards' and Patau's syndromes is to be offered by the NHS from 2018, it has been announced...
24 October 2016 - by Craig Macpherson 
Several online companies now offer non-invasive prenatal testing for Down's syndrome. While there are some protections for consumers, they are currently insufficient...
03 October 2016 - by Victoria Woodham 
The introduction of non-invasive prenatal testing in the NHS screening programme for pregnant women may seem like a no-brainer, but it is based on outdated ideas of what life is like for people with Down's syndrome and their families...
30 August 2016 - by Dr Ainsley Newson 
Jane Fisher and Lyn Chitty highlight in BioNews 864 that it's been almost nine months since the UK National Screening Committee recommended an 'evaluative implementation of NIPT into the NHS's antenatal screening programme – a recommendation that still awaits ministerial decision...
15 August 2016 - by Jane Fisher and Professor Lyn Chitty 
A central tenet of prenatal testing is to promote reproductive autonomy by providing women with information that can assist in pregnancy management. Bringing NIPT into the NHS will improve an established screening programme...


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Donor anonymity comes to an end in Victoria, Australia

06 March 2017

By Rikita Patel

Page URL: Appeared in BioNews 891

People conceived using donor eggs or sperm now have a legal right to identifiable information about their biological parents in Victoria, Australia.

The Australian government passed a bill last year as an amendment to the Assisted Reproductive Treatment Act 2015 to end donor anonymity (see BioNews 841). The bill, which took effect on the 1 March 2017, makes Australia the world's first country to end donor anonymity completely.

Anonymous donation has not been permitted in Victoria since 1998 but, under the new legislation, donor-conceived people born using gametes anonymously donated prior to 1998 will be able to apply for identifiable information about their donor – even if they had not consented to being identifiable.

Additionally, the donor information will now be made accessible to donor-conceived children and their parents through the central donor registry. Previously, this information was inaccessible until the donor-conceived person reached the age of 18.

Currently, the Victorian Assisted Reproductive Treatment Authority holds the details of around 3200 sperm and egg donors, including people who made donations before 1998. Donor-conceived people or their parents will be able to make applications to this authority to gather information concerning donor name, date of birth, ethnicity, genetic conditions and donor code (used to find siblings who share the same donor).

However, a right to information about a donor does not mean a right to contact that person or establish a relationship. Both donors and donor-conceived individuals will be able to state their contact preferences when applying to the central register, which determine if and how they may be contacted. Failure to respect these wishes will incur a penalty.

An editorial in The Age states that the newspaper is 'generally opposed to legislation that has a retrospective effect, but we feel in this case it is justified; the rights of the child have been appropriately updated without compromising the rights of the donor'.

Anonymity for gamete donors varies across Australian states, with Western Australia and New South Wales also holding state-run registers.

'[The] days of anonymity of sperm donation [are] over,' said Adnan Catakovic, scientific and managing director at City Fertility. Speaking to the Herald Sun, he gave assurances that the law changes had not affected donor numbers and that his Victorian database had more than 100 sperm donors registered.


05 June 2017 - by Rikita Patel 
A donor-conceived Dutch woman, Emi Stikkelman, is the first to find her sperm donor using an American commercial DNA bank...
03 April 2017 - by Andrew Hellman and Professor Glenn Cohen 
Many children conceived using donor sperm or eggs want to know their biological parents. In the US, some clinics make the identity of the sperm donor available to a donor-conceived child at age 18. Most intending parents, though, choose sperm donation programs that do not reveal the identities of the sperm donors – so-called 'anonymous sperm donation'...
27 March 2017 - by Dr Petra Nordqvist and Hazel Burke 
Until twelve years ago, most people donating eggs or sperm via a UK clinic would be anonymous. In the eyes of the law, this donation was a generous gift that was handed over without continuing responsibilities or ties for the donor. In fact, continued involvement of the donor was usually discouraged...

03 October 2016 - by Antony Blackburn-Starza 
This collection of essays from leading lawyers, fertility professionals, social scientists, ethicists, and others documents the experiences of families engaging in assisted conception, adding to the growing body of empirical studies in this area...
21 March 2016 - by Professor Eric Blyth and Dr Marilyn Crawshaw 
The Government of Victoria should be applauded for confronting a dilemma that so many others have avoided...
14 March 2016 - by Professor Guido Pennings 
The State Legislature of Victoria has decided unilaterally to break their agreements with the sperm donors who donated before 1998 and will reveal their identity. It is difficult to imagine a measure that shows more disrespect for both donors and recipients...
29 February 2016 - by Ayala Ochert 
The Australian state of Victoria has passed a bill allowing all people conceived through egg or sperm donation to apply for identifying information about their biological parents...
29 February 2016 - by Professor Sonia Allan and Damian Adams 
The state parliament of Victoria in Australia has passed legislation that will enable all donor-conceived people to receive identifying information about their sperm, oocyte, or embryo donor(s). The model adopted is a world first in its application to donor conception...


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Artificial mouse embryo created out of stem cells

06 March 2017

By Anna Leida

Page URL: Appeared in BioNews 891

Stem cells from an adult mouse have been used to grow a structure resembling a mouse embryo in vitro for the first time.

The ability to study the early stages of embryo development outside the womb may one day help explain why a significant number of human pregnancies fail. This breakthrough in developmental research originated from the same team at University of Cambridge which recently developed a technique that allows human embryos to develop in the lab up to the legal limit of 14 days in the UK.

 'We are very optimistic that this will allow us to study key events of this critical stage of human development without actually having to work on (IVF) embryos,' said lead researcher Professor Magdalena Zernicka-Goetz of the University of Cambridge.

The development of a fertilised egg into a fetus is a complex and poorly understood process of self-assembly and intricate cell-to-cell interaction. In a few days a small ball of undifferentiated cells develops into a blastocyst consisting of three different types of embryonic stem cell. Previous attempts to grow embryos using only one kind of stem cell proved unsuccessful because the cells would not assemble into their correct positions.

The researchers placed both placental and embryonic stem cells into a three-dimensional scaffold and discovered that within 96 hours the cells had begun to communicate, forming two distinct clusters of cells at each end and a cavity in the middle.

'We knew that interactions between the different types of stem cell are important for development, but the striking thing that our new work illustrates is that this is a real partnership – these cells truly guide each other,' said Professor Zernicka-Goetz.

The scientists' goal was not to grow mice outside of the womb, but to open a new window on embryonic development just prior to implantation – the so-called 'black box' of embryonic development, later than human embryos can be studied in vitro but earlier than ultrasound imaging can be used to view the embryo in the womb. About two-thirds of pregnancies are thought to fail during this stage, but because it is so difficult to study, the reasons are poorly understood.

Professor Robin Lovell-Badge of The Crick Institute, who was not involved in the research, lauded the findings as 'permitting study of events that normally take place within the uterus and are therefore difficult to observe, but in this case with an essentially unlimited supply of starting material'.

If used in human embryology, this methodology could make scientists less dependent on fertilised eggs; using artificial embryos could speed up research and potentially sidestep some ethical concerns.

Some critics fear that the technique could be used irresponsibly however. Dr David King, director of Human Genetics Alert, told the Telegraph:  'What concerns me about the possibility of artificial embryos is that this may become a route to creating GM or even cloned babies.'

The research was published in the journal Science.


08 January 2018 - by Dr Jess Buxton 
What exactly are SHEEFs and IVGs? How might they shed light on the mysteries of early embryo development, and offer new hope to those affected by infertility? These questions were the focus of the second session at Progress Educational Trust's one-day conference 'Crossing Frontiers: Moving the Boundaries of Human Reproduction' in London on 8 December 2017...
16 October 2017 - by Helen Robertson 
Scientists have created the most versatile stem cells to date, which could boost research into the reasons behind failed early pregnancies...
27 March 2017 - by Dr Rachel Huddart 
Rapid advances in stem cell and embryo research are in danger of outstripping current ethical guidelines and new regulations are urgently needed, warn scientists in a report published this week...
13 March 2017 - by Sarah Norcross 
Last week saw an exciting breakthrough in embryology, as stem cells from an adult mouse were used to grow a structure resembling a mouse embryo in vitro for the first time...

14 November 2016 - by Dr Katie Howe 
US researchers have created functional eggs using DNA from small cells that normally form as waste products during egg development...
24 October 2016 - by Dr Katie Howe 
Scientists in Japan are the first to have created live mouse pups from eggs that were made from stem cells...
12 September 2016 - by Dr Katie Howe 
Researchers in Belgium have taken the first steps towards producing a transplantable artificial ovary after demonstrating successful follicle survival in mice...
21 September 2015 - by Lubna Ahmed 
French researchers have described a technique to produce human sperm cells in the laboratory as they attempt to patent the method...
18 May 2015 - by Lubna Ahmed 
A French company claims to have grown human sperm cells in a laboratory for the first time....


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Syndicate this story - click here to enquire about using this story.


Sickle cell reversed with gene therapy in teenager

06 March 2017

By Ayala Ochert

Page URL: Appeared in BioNews 891

A teenage boy in France appears to have been cured of sickle cell disease using a gene therapy. He has been free of all signs of the disease for 15 months.

Gene therapy has successfully treated some rare genetic disorders, but this is the first time it has worked on a common genetic disease.

'The patient is now 15 years old and free of all previous medication,' Dr Marina Cavazzana of the Necker Children’s Hospital in Paris told New Scientist. 'He has been free of pain from blood vessel blockages, and has given up taking opioid painkillers. All the tests we performed on his blood show that he’s been cured, but more certainty can only come from long-term follow-up.'

Sickle cell disease is caused by a mutation in the gene that makes beta-globin, part of the haemoglobin molecule. This change causes red blood cells to develop into an abnormal sickle shape, which causes clumping and blood-vessel blockages. This leads to pain and organ damage and can be fatal if untreated.

The boy had been suffering from repeated episodes of severe pain and had to receive blood transfusions once a month to manage his symptoms. When he was 13, he began the experimental treatment.

Doctors removed some stem cells from his bone marrow and used a virus to deliver mutated versions of the beta-globin gene designed to interfere with the boy's defective proteins. Three months after treatment began, he began producing normal haemoglobin and has been symptom-free since then. The case study was published in the New England Journal of Medicine.

Dr Deborah Gill from the gene medicine research group at the University of Oxford, who was not involved in the research, has called it a 'game changer'.

'I've worked in gene therapy for a long time and we make small steps and know there's years more work. But here you have someone who has received gene therapy and has complete clinical remission – that's a huge step forward,' she told BBC News.

Dr Cazanna says that she and her team are treating seven other patients, who are showing 'promising' progress.

Sickle cell disease (SCD) affects millions of people worldwide, most of them in sub-Saharan Africa. As much as two percent of babies in Nigeria are born with the disease.

'We should be realistic in remembering that there are hundreds of thousands of sickle cell patients in less developed countries, and that the therapy is not easily exportable or adaptable to countries with less well-developed health systems,' cautioned Professor Stuart Orkin of Harvard Medical School.


03 April 2017 - by Jennifer Willows 
A new method of producing red blood cells outside the body on a large scale has been developed by researchers at the University of Bristol...

14 November 2016 - by Sarah Gregory 
Researchers have had further success using the CRISPR/Cas9 genome-editing technique to repair the mutation that causes sickle-cell anaemia...
17 October 2016 - by Sarah Gregory 
Researchers have used the CRISPR/Cas9 genome-editing technique to correct the mutation that causes sickle-cell anaemia...
12 September 2016 - by Dr Nicoletta Charolidi 
A genetically engineered virus that triggers the production of an alternative form of haemoglobin has reversed the symptoms of sickle cell disease in mice...
06 June 2016 - by Rachel Reeves 
The European Commission has granted marketing authorisation for a gene therapy to treat children with an extremely rare, life-threatening genetic disorder...
14 December 2015 - by Dr James Heather 
Two patients enrolled in a clinical trial of a gene therapy to treat severe congenital immunodeficiency have shown signs of substantial improvement in their condition...


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Remission in one-third of terminal lymphoma patients after gene therapy

06 March 2017

By Annabel Slater

Page URL: Appeared in BioNews 891

A gene therapy trial has reversed terminal blood cancer in a third of patients.

The trial used genetically modified cells taken from the patient's own immune system, known as CAR-T therapy. After six months, cancer had shrunk by at least half in 82 percent of patients with non-Hodgkin lymphoma.

'The numbers are fantastic,' said Dr Fred Locke, a blood cancer expert at Moffitt Cancer Center in Tampa who co-led the study. 'These are heavily treated patients who have no other options.'

The treatment, developed by US pharmaceutical company Kite Pharma, involves filtering immune T cells from the patient's blood to make a 'living drug'. The T cells are modified using a gene which enables them to better identify tumour cells. After being multiplied in the lab, the cells are injected back into the patient, where they continue to multiply and enable the patient's immune system to find and destroy the cancer cells.

The therapy was tested in 101 patients with one of three types of non-Hodgkin lymphoma for which other treatments had been unsuccessful. Six months after a single treatment, 36 percent of patients were in complete remission and tumours had shrunk by at least half in 41 percent of patients.

'This seems extraordinary... extremely encouraging,' said Dr Roy Herbst, cancer medicines chief at the Yale Cancer Center, who was not involved in the study. Dr Herbst said that follow-up beyond six months is still needed to see if the benefit wanes, but added, 'this certainly is something I would want to have available.'

Two patients died from the treatment, although this is fewer than has been seen in other tests of CAR-T therapy. Thirteen percent developed a dangerous immune system overreaction, 28 percent of patients developed temporary neurological problems, and about a third developed treatable anaemia or other blood-count related problems.

Median survival for such patients had been about six months, but after nine months more than half of the trial patients are still alive. The full results of the trial will be presented at the American Association for Cancer Research conference in April.

Kite Pharma plans to seek approval of the treatment from the FDA by the end of March, and in Europe later this year.

Martin Ledwick, Cancer Research UK's head cancer information nurse, said: 'These results are promising and suggest that one day CAR-T cells could become a treatment option for some patients with certain types of lymphoma. But, we need to know more about the side effects of the treatment and long-term benefits.'


17 July 2017 - by Dr Loredana Guglielmi 
A drug for leukaemia that genetically alters patients' own cells to fight cancer, has cleared a critical hurdle in gaining commercial approval...
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...

22 February 2016 - by Julianna Photopoulos 
Trials using genetically engineered immune cells have shown 'extraordinary results' in treating blood cancers in terminally ill patients, say researchers...


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Autism linked to cognitive genes

06 March 2017

By Jamie Rickman

Page URL: Appeared in BioNews 891

Researchers have discovered that genetic variants associated with Autism Spectrum Disorder (ASD) also correlate with traits for higher intelligence.

The findings may explain why ASD still remains in the human population. The prevalence of ASD is estimated at 1.1 percent of the UK population, higher than expected given its evolutionary disadvantage.

'Why aren't [these variants] just eliminated by evolution?' asked Joel Gelernter, professor of genetics and neuroscience at Yale School of Medicine and co-author of the study.

The idea is that during evolution these variants that have positive effects on cognitive function were selected, but at a cost – in this case an increased risk of autism spectrum disorders.'

ASD is a polygenic disorder which causes problems with social interaction and communication. Common genetic variants account for 49 percent of ASD heritability.  

Researchers used a computer model to simulate the effects of natural selection on genomic data from 5000 individuals. They found that common variants associated with ASD risk showed signatures of positive selection, meaning they are retained in the ongoing evolution of the human genome and therefore must confer some beneficial effects.

These genes tend to be expressed in brain and pituitary tissue and are implicated in the development of the nervous system and the creation of neurons.

The researchers also showed these ASD variants correlated strongly with several measures of intelligence, including years of schooling, college completion and childhood intelligence.

Lead researcher Dr Renato Polimanti, from Yale School of Medicine, said: 'We found a strong positive signal that, along with autism spectrum disorder, these variants are also associated with intellectual achievement.'

Intelligence is a highly complex trait, in which many small genetic effects can add up. As the evolution of the human brain has been pivotal in the success of the species, genes that have a large negative effect on neural activity would be quickly deleted from the gene pool. Signatures of this 'purifying selection' have previously been observed for rare genetic variants linked to ASD.

The authors speculate that small-effect common variants are 'accumulated across the genome… to the benefit of most but to the detriment of some'.

The findings also explain the well-documented coincidence of certain traits in ASD and those with high IQ, such as larger brain size, increased sensory and visuospatial abilities, and high socioeconomic status.

Previous studies have also shown ASD correlates strongly with measures of intelligence, i.e. years of schooling, college completion and childhood intelligence.

The study was published in PLOS Genetics


02 October 2017 - by Shaoni Bhattacharya 
Genetic factors may explain most of the risk of developing autism spectrum disorder (ASD), suggests a new analysis...
17 July 2017 - by Annabel Slater 
How infants look at the world is strongly controlled by genetics, a new study has found...
30 May 2017 - by Annabel Slater 
A study of almost 80,000 people has identified 40 new genes linked to intelligence...
10 April 2017 - by Dr Lucy Freem 
Children with autism spectrum disorder who received infusions of their own stem cells from banked umbilical cord blood as part of a clinical trial have no apparent lasting adverse effects after one year...
13 March 2017 - by Jenny Sharpe 
A study that sequenced the whole genomes of over 5000 people has discovered 18 genes associated with autism spectrum disorder (ASD)...

07 November 2016 - by Helen Robertson 
Children with autism spectrum disorder have twice as many harmful mutations in their mitochondrial DNA as their siblings, a study has found...
01 February 2016 - by Dr Julia Hill 
A Chinese laboratory has created genetically modified monkeys that show symptoms of autism...
07 September 2015 - by Dr Ashley Cartwright 
Scientists have found that two genetic analysis techniques can increase the number of causative mutations found in children with autism spectrum disorder...
10 August 2015 - by Antony Blackburn-Starza 
Researchers in the United States have demonstrated how a gene mutation can contribute to a particular form of autism...


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Podcast Review: Naked Genetics – Testing, testing

06 March 2017

By Matthew Thomas

Page URL: Appeared in BioNews 891

Testing, testing

Naked Genetics podcast

Presented by Dr Kat Arney

It's amazing how a string of four little chemicals can be so controversial. More and more, we hear about the genetics behind everything from education and intelligence to appearances and sexuality, not to mention diseases and our ancestry. This can be a murky and politically charged area, not least because of the so-called alt-right's burgeoning interest in genetics.

Dr Kat Arney's fascinating and wide-ranging Naked Genetics podcast eased us into genetic testing with the less controversial topic of cancer.

Her first guest was Professor Nazneen Rahman, a geneticist at the Institute of Cancer Research who can also belt out a jazz number. She studies how your genome can affect your risk of developing various cancers, particularly ovarian and breast.

Any discussion of risk is liable to make many people feel scared, overwhelmed and bored, all at the same time. It's frankly unnatural to wrap your head around these probabilities – just think about how you react whenever the weather forecast turns out wrong – and it takes a lot of training to get the human brain to think probabilistically.

Beyond a handful of statistics, Professor Rahman avoided numbers in favour of a clear and articulate explanation of the role of genetic testing in cancer. In the UK, we start with people already diagnosed with cancer, then reach out to family members who might also be at risk. Professor Rahman discussed how this approach means that cancer patients can also be given more personalised information about their disease.

Screening the entire population for particular mutations, she explained, is ineffective because of their rarity. Around this point, I felt that they should have mentioned the inherent pros and cons of screening. All tests are inaccurate in two ways: there's a chance the test will say you're sick when you aren't (a false positive) or it will say you're well when you're sick (false negative). Both outcomes are harmful and unavoidable, and this must be taken into account when rolling out any kind of screening programme.

Next up was Dr Tony Gordon, who spoke at the Progress Educational Trust's 'Testing, Testing, 1, 2, 3' debate about pre-implantation genetic screening (PGS) and pre-implantation genetic diagnosis (PGD) in September (see BioNews 870). He's the UK laboratory director of Genesis Genetics, which tests for genetic disorders in embryos produced through IVF as well as in fetuses.

Dr Gordon said his company can test embryos from as little as five days after fertilisation (during IVF) by taking cells from the part that will grow into the placenta. This PGS test makes sure embryos have the correct number of chromosomes. PGD, on the other hand, zooms in to look at genes and, by Dr Gordon's count, can test for around 240 heritable conditions.

Inevitably, genetics tends to make things more complicated, not less, in all respects. As Dr Arney said: 'It's not quite as simple as one gene, one fault, one disease.'

Luckily, the odds are against this kind of embryonic testing leading towards a perfect and perfectly homogenous master race, because – as Dr Gordon points out – if you screened for more than one or two conditions, you'd quickly run out of embryos to transfer during IVF.

He also brought up an interesting point when talking about how, with late-onset disorders like Huntington's, they must tread carefully when talking to parents who might not be aware that they have the gene themselves.

The third and final guest was Mike McNamee, professor of sports science at Swansea University, who specialises in ethics. Professor McNamee critiqued the shaky science behind the newest batch of direct-to-consumer genetic testing kits. These kits claim to uncover potential sporting or artistic ability – essentially promising to quantify whether a child would feel more at ease in front of an easel or a pommel horse.

Professor McNamee highlighted a gene called ACTN3 that has been linked to power and speed in athletes, but only to a point as a famous long-jumper does not express this gene. As he rightly mentioned, 'being a world class sprinter requires a million other things', not least 'the motivation, dedication, the commitment' to do it in the first place. (I may be expressing heroic quantities of ACTN3 right now, but the only time you'll see me sprint is when they call last orders at the bar.)

He went on to say that it's 'preposterous' and 'fallacious' to reduce any kind of complicated, specialised activity requiring a mixture of talent, training and luck to a string of DNA. There are always all manner of social, historical and environmental contingencies that influence what we want from our children as well as what they might want for themselves.

This half-hour programme was packed with lots of other interesting titbits that Kat Arney and her guests talked about. I highly recommend giving this podcast your time.



22 January 2018 - by Sam Sherratt 
Over the last few years we've seen a welcome explosion in the number of scientific podcasts aiming to spread the gospel about new research that may otherwise miss the attention of the mainstream media. With this in mind, I recently sat down to listen to an episode of Naked Genetics, a weekly podcast covering the 'latest genetics news and breakthroughs from the DNA world'...
18 September 2017 - by Mikey Lebrett 
Genomics may herald a bright future - for those who understand it. But what about those who do not? Dr Kat Arney's new book 'How to Code a Human' is a beautiful example of how complicated genetic topics can be simplified and clarified to make them understandable and enjoyable for the least-scientific of readers....

06 March 2017 - by Emma Laycock 
The Nuffield Council on Bioethics has called for a ban on using early prenatal testing to find out the sex or sequence the whole genome of the fetus...
13 February 2017 - by Hannah Somers 
A study has indicated that US doctors may not be recommending genetic testing to a sufficient number of high-risk breast cancer patients...
19 December 2016 - by Isobel Steer 
A study has cast doubts on the reliability of 'liquid biopsies' – blood tests that detect tumour mutations and are increasingly used to guide treatment...
28 November 2016 - by Dr Helen O'Neill 
When it comes to prenatal genetic testing and screening, informed consent is crucial. These seven videos from the US help patients to understand what's involved...
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)...


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