29th August 2015
Scientists find possible "off switch" for cancer
A new way of "switching off" cancer cell growth, based on adhesion proteins, is reported by the Mayo Clinic.
Cancer cells in culture from human connective tissue. Credit: Dr. Cecil Fox
Researchers at the Mayo Clinic in Florida have discovered a way to potentially reprogram cancer cells back to normal cells. This finding, published in the journal Nature Cell Biology, represents "an unexpected new biology that provides the code, the software for turning off cancer," says the study's senior investigator, Panos Anastasiadis, Ph.D., chair of the Department of Cancer Biology. His team experimented with human cells in the laboratory that were affected with breast, lung and bladder cancer.
Normal cells are prevented from uncontrolled growth by adhesion proteins – a special "glue" that keeps cells together. The Mayo team discovered that this glue – which consists primarily of E-cadherin and p120 catenin – is controlled by biological microprocessors known as microRNAs that in turn use another protein called PLEKHA7 for regulation. In other words: when normal cells come into contact with each other, genes that promote cell growth are suppressed by this specific subset of microRNAs. Cancer cells, on the other hand, were shown to be missing PLEKHA7. Restoring either its level or increasing the level of microRNAs within these cells turned them back into a benign state.
"We believe that loss of the apical PLEKHA7-microprocessor complex is an early and somewhat universal event in cancer," says Dr. Anastasiadis. "In the vast majority of human tumour samples we examined, this apical structure is absent, although E-cadherin and p120 are still present. This produces the equivalent of a speeding car that has a lot of gas (the bad p120) and no brakes (the PLEKHA7-microprocessor complex).
"By administering the affected microRNAs in cancer cells to restore their normal levels, we should be able to re-establish the brakes and restore normal cell function," he adds. "Initial experiments in some aggressive types of cancer are indeed very promising."
Lead authors Panos Anastasiadis, Ph.D., and Antonis Kourtidis, Ph.D.
"The study brings together two so-far unrelated research fields – cell-to-cell adhesion and miRNA biology – to resolve a long-standing problem about the role of adhesion proteins in cell behaviour that was baffling scientists," says Antonis Kourtidis, Ph.D., an associate of Dr. Anastasiadis. "Most significantly, it uncovers a new strategy for cancer therapy."
"When this apical adhesion complex was disrupted after loss of PLEKHA7, this set of microRNAs was misregulated – and the E-cadherin and p120 switched sides to become oncogenic," he adds.
The team is now working on better options for delivering the molecules. In the future, an injection could be developed that sends the microRNA directly into cells or tumours, without the need for harsh chemotherapy or additional surgery methods. Experts not involved in the research note its importance, but appear sceptical about its possible effectiveness in treatments.
"This important study solves a long-standing biological mystery – but we mustn't get ahead of ourselves," said Henry Scowcroft, the senior science information manager at Cancer Research UK. "There's a long way to go before we know whether these findings, in cells grown in a laboratory, will help treat people with cancer. But it's a significant step forward in understanding how certain cells in our body know when to grow, and when to stop. Understanding these key concepts is crucial to help continue the encouraging progress against cancer we've seen in recent years."
"I think in reality, it is unlikely that you could reverse tumours by reversing just one mechanism, but it's a very interesting finding," concluded Dr. Chris Bakal from the Institute for Cancer Research in London.
17th August 2015
Single gene alteration boosts intelligence in mice and reduces anxiety
Genetically engineered “brainy” mice with better resilience to fear and anxiety could raise hopes of better treatments for cognitive disorders in the future.
Researchers have created unusually intelligent mice by altering a single gene. As a result, the mice were also less likely to feel anxiety or fear. The study, led by the University of Leeds and Mount Sinai Hospital in Toronto, was published on Friday in the journal Neuropsychopharmacology. It sheds light on the molecular underpinnings of learning and memory and could form the basis for research into new treatments for age-related cognitive decline, cognitive disorders such as Alzheimer’s disease and schizophrenia, and other conditions.
The researchers altered a gene in mice to inhibit the activity of an enzyme called phosphodiesterase-4B (PDE4B), which is present in many organs of the vertebrate body, including the brain. In behavioural tests, the PDE4B-inhibited mice showed enhanced cognitive abilities. They tended to learn faster, remember events longer and solve complex exercises better than ordinary mice. For example, the “brainy mice” showed a better ability to recognise another mouse they had been introduced to the day before. They were also quicker at learning the location of a hidden escape platform in a test called the Morris water maze. However, the PDE4B-inhibited mice also showed less recall of a fearful event after several days than ordinary mice.
The published findings are limited to mice and have not been tested in humans, but PDE4B is present in humans. The diminished memory of fear among mice with inhibited PDE4B could be of interest to researchers looking for treatments for pathological fear, typified by Post-Traumatic Stress Disorder (PTSD). The PDE4B-inhibited mice also showed less anxiety. They spent more time in open, brightly-lit spaces than ordinary mice, which preferred dark, enclosed spaces. Ordinary mice are naturally very fearful of cats, but the PDE4B-inhibited mice showed a decreased fear response to cat urine, suggesting that one effect of inhibiting PDE4B could be an increase in risk-taking behaviour. So, while the PDE4B-inhibited mice excelled at solving complex exercises, their low levels of anxiety could be counterproductive for a wild mouse.
Dr Steve Clapcote from the University of Leeds’ School of Biomedical Sciences, who led the study: “Cognitive impairments are currently poorly treated – so I’m excited that our work using mice has identified phosphodiesterase-4B as a promising target for potential new treatments.”
The researchers are now working on developing drugs that will specifically inhibit PDE4B. These drugs will be tested in animals to see whether any would be suitable for clinical trials in humans.
Dr Alexander McGirr, a psychiatrist in training at the University of British Columbia, who co-led the study, said: “In the future, medicines targeting PDE4B may potentially improve the lives of individuals with neurocognitive disorders and life-impairing anxiety, and they may have a time-limited role after traumatic events.”
17th August 2015
Spicy foods may be linked to increased longevity
Spicy foods may be linked to increased longevity, according to a study published in the British Medical Journal (BMJ).
Eating spicy food more frequently as part of a daily diet is associated with a lower risk of death, suggests a new study published in the BMJ this week. The association was also found for deaths from certain conditions such as cancer, and ischaemic heart and respiratory diseases.
This is an observational study so no definitive conclusions can be drawn about cause and effect, but the authors call for more research that may "lead to updated dietary recommendations and development of functional foods."
Previous research has suggested that beneficial effects of spices and their bioactive ingredient, capsaicin, include anti-obesity, antioxidant, anti-inflammation and anticancer properties. So an international team led by researchers at the Chinese Academy of Medical Sciences examined the association between consumption of spicy foods as part of a daily diet and the total risk and causes of death.
The researchers undertook a prospective study of 487,375 participants, aged 30-79 years, from the China Kadoorie Biobank. Participants were enrolled between 2004-2008 and followed up for morbidities and mortality. All participants completed a questionnaire about their general health, physical measurements, and consumption of spicy foods, and red meat, vegetables and alcohol. Participants with a history of cancer, heart disease, and stroke were excluded from the study, and factors such as age, marital status, level of education, and physical activity were accounted for.
During a median follow-up of 7.2 years, there were 20,224 deaths. Compared with participants who ate spicy foods less than once a week, those who consumed spicy foods 1 or 2 days a week were at a 10% reduced risk of death (hazard ratios for death was 0.90). And those who ate spicy foods 3 to 5 and 6 or 7 days a week were at a 14% reduced risk of death (hazard ratios for death 0.86, and 0.86 respectively).
In other words, participants who ate spicy foods almost every day had a relative 14% lower risk of death compared to those who consumed spicy foods less than once a week. The association was similar in both men and women, and was stronger in those who did not consume alcohol. Frequent consumption of spicy foods was also linked to a lower risk of death from cancer, and ischaemic heart and respiratory system diseases, and this was more evident in women than men.
Fresh and dried chilli peppers were the most commonly used spices in those who reported eating spicy foods weekly, and further analysis showed those who consumed fresh chilli tended to have a lower risk of death from cancer, ischaemic heart disease, and diabetes. Some of the bioactive ingredients are likely to drive this association, the authors explain, adding that fresh chilli is richer in capsaicin, vitamin C, and other nutrients. But they caution against linking any of these with lowering the risk of death.
Should people eat spicy food to improve health? In an accompanying editorial, Nita Forouhi from the University of Cambridge says it is too early to tell, and calls for more research to test whether these associations are the direct result of spicy food intake or whether this is a marker for other dietary or lifestyle factors.
5th August 2015
An interview with aging and longevity expert Aubrey de Grey
Aubrey de Grey is Chief Science Officer of the SENS Research Foundation, which is working to find a solution to aging. He believes that the first humans who will live to be 1,000 years old could already be alive today. Yesterday, he appeared on a Reddit AMA (Ask Me Anything) session to answer questions posed by futurology enthusiasts. Some of the responses are reproduced below.
Reddit: I'm curious about how the advent of CRISPR affects the development of SENS therapies?
Aubrey de Grey: It's huge. It will be central to the delivery of the many SENS components that involve somatic gene therapy.
Reddit: Does it speed up the development timeline at all?
Aubrey de Grey: A lot, yes.
Reddit: Are you familiar with the current and/or potential scalability of CRISPR, i.e. it's one thing to edit a single cell in vitro, and a whole other to be able to reprogram every cellular gene expression of Huntington's disease in vivo? I'm really curious where we are on that scale because of the massive ramifications this technology has and it looks like a lot of progress is being made on the error rate.
Aubrey de Grey: It's going extremely well. Fidelity is key – i.e., minimising off-target modifications – and as you say, progress is rapid.
Reddit: What is the likelihood that someone who is 40 today will have their life significantly extended to the point of practical immortality? 30? 20? 10?
Is it a slow, but rapidly rising collusion of things that are going to cause this, or is it something that is going to kind of snap into effect one day?
Will the technology be accessible to everyone, or will it be reserved for the rich?
What are your thoughts on cryonics?
What is your personal preferred method of achieving practical immortality? Nanotechnology? Cyborgs? Something else?
Aubrey de Grey: I'd put it at 60, 70, 80, 90% respectively.
Kind of snap, in that we will reach longevity escape velocity.
For everyone, absolutely for certain.
Cryonics (not cryogenics) is a totally reasonable and valid research area and I am signed up with Alcor.
Anything that works! – but I expect SENS to get there first.
Reddit: Is it fair for me to be telling my friends and others I tell about this stuff, that considering the $25 a month I donate to SENS and the many dozens of people I have educated about SENS and curing aging in general, many quite successfully educated, that I may have personally saved the lives of 100,000 people at this point?
Along that line is this something it would be good for you and your people to really emphasize during talks? To tell people that they can feel good about themselves for going out and advocating and donating even a meagre amount of money because doing so means they are very truthfully saving the lives of tens or hundreds of thousands of people?
Aubrey de Grey: This is by far the best question yet on this AMA. Thank you!
First: I think you can say something like that (depending on how long it's been that you've been sending us $25). I believe that $1B right now would hasten the achievement of LEV by about 10 years; you can do the rest of the maths, but it comes out to about $2 per life – and of course "saving" means a great deal more in terms of extra years than it does for other ways of saving lives, so arguably it's more like a few cents per life.
And yes, I think I should emphasise this more. I probably will.
Reddit: On the topic of money, why do you think so much of the super rich, do so little with their hordes of money, when they could put it towards research of various types, including longevity? That's one thing I have trouble understanding it, my brain defaults towards conspiracy theory type theories. E.g. they are hoarding the money to keep others poorer, to keep themselves more powerful.
Aubrey de Grey: The super-rich are just as afraid of getting their hopes up as anyone else.
Reddit: What do you think of the efforts like Human Longevity Inc. that seem to be focused on DNA/genetic markers of aging, rather than the damage focus of SENS? Is their work helpful do you think?
Aubrey de Grey: It's definitely helpful in the short term, as a way to optimise what we can already do. It has very little longer-term relevance, because once SENS works, it will work the same for everyone.
Reddit: I watched a video from you back in 2013 where you commented on the announcement from Larry Page about Calico. You mentioned that Calico – if they're focused on early stage research – might highly benefit the battle against aging. What is your comment regarding Calico's research now that a couple of years have passed? More/less excited about their potential?
Aubrey de Grey: Cautious. They are structured perfectly: they are doing a bunch of highly lucrative irrelevant short-term stuff that lets them get on with unlucrative critical long-term stuff without distraction. But the latter may be getting too curiosity-driven and insufficiently translational. We'll see.
Reddit: Care to elaborate? "Highly lucrative irrelevant stuff" seems contradictory, likewise "unlucrative critical stuff" :)
Aubrey de Grey:
"Highly lucrative irrelevant stuff" = drugs for specific diseases of aging
"Unlucrative critical stuff" = work leading to actual LEV
Reddit: How difficult would it be maintaining/repairing the brain itself? While we can reasonably access almost every other part of the body, the brain always seems like this elusive bastion that we can't quite reach into for one reason or another.
Aubrey de Grey: With SENS, there's not so much difference between the brain and the rest of the body. It's the same seven types of damage.
Reddit: There has been a lot of noise lately about alternative models for mitochondrial aging and therapies for them. Do you still stand for the hypotheses your book defended, or has SENS changed the way it views mitochondrial aging?
Aubrey de Grey: No change.
Reddit: How much of SENS research involves experimentation on animals, if any? If this does happen, is the sacrifice of animal lives necessary to achieve the foundation's goals, or does it just make things easier or faster? Are there pathways to achieving LEV that don't involve experimentation on animals?
Aubrey de Grey: Quite a bit involves animals, like all biomedical research, but you jump too quickly to the word "sacrifice". How is it a sacrifice if we do things to animals that let them stay healthy longer?
Reddit: Do you think the regulatory pipeline for new therapies in the US and/or EU is adequate? What changes would you make to speed up/slow down/otherwise streamline the process from discovery research to clinical implementation and commercialization?
Aubrey de Grey: There's a lot happening to streamline it. The editorial in the next issue of Rejuvenation Research will discuss the 21st Century Cures Act from our angle. Bottom line: things are improving.
Reddit: Back in the days, what motivated you to decide to cure aging? Like, what was your motivation in the first place?
Aubrey de Grey: The correct question is, what the hell is wrong with everyone else that stops them from being motivated to cure aging? It's responsible for the overwhelming majority of global suffering. WTF?
Reddit: Any tips on not being afraid of death? Even though I'm at the moment 21 years old and my odds of reaching longevity escape velocity are decent, sometimes thinking about not-existing keeps me awake at night. The anti-aging research is kinda the only reason I'm not struggling with it so much anymore, but I don't think that's the correct way of coping with it.
Aubrey de Grey: I hear you. I have a close friend who is so scared of this that she is clinically depressed, and she's only 22. Actually I think getting involved in the anti-aging crusade is indeed the best way.
Reddit: I'm wondering how much time you spend thinking about what a post-death future would look like – is the day-to-day life of an immortal something you spend much time considering, or are you exclusively focused on making it happen at this point? Are there any people you'd recommend who are seriously considering the question?
If you have spent time considering it, what do you think are some major problems an immortal society would face that people DON'T typically talk about? (Rather than normal fears of overpopulation, lack of resources, etc.)
Aubrey de Grey: See the paper from Denver arising from work we funded:
The abstract sounds a bit pessimistic but only as a wake-up call.
Reddit: What do you think about the singularity in general? I think that if we achieved a singularity, it could help us achieve negligible senescence and potentially even immortality in a significantly shorter timeframe, and of course also all other technological wonders that it could bring.
Aubrey de Grey: Some people are working on AI for just that reason. I think we'll reach the Methuselarity first, but I could be wrong.
3rd August 2015
Ebola vaccine is 100% successful
An Ebola vaccine has shown 100% success in an initial trial, the World Health Organisation reports.
The Ebola vaccine rVSV Zebov-GP being prepared for injection, Guinea. Credit: WHO
Results from an interim analysis of the Guinea Phase III efficacy vaccine trial show that VSV-EBOV (Merck, Sharp & Dohme) is highly effective against Ebola. The independent body of international experts – the Data and Safety Monitoring Board – that conducted the review, advised that the trial should continue. Preliminary results from analyses of these interim data are published in British journal The Lancet.
"This is an extremely promising development," said Dr Margaret Chan, Director-General of the World Health Organisation (WHO). "The credit goes to the Guinean Government, the people living in the communities and our partners in this project. An effective vaccine will be another very important tool for both current and future Ebola outbreaks."
While the vaccine up to now shows 100% efficacy in individuals, more conclusive evidence is needed on its capacity to protect populations through what is called “herd immunity”. To that end, the Guinean national regulatory authority and ethics review committee have approved continuation of the trial.
Team 9 of the WHO Ebola vaccine trial, at work in Katongourou, Guinea. Credit: WHO
"This is Guinea’s gift to West Africa and the world,” said Dr Sakoba Keita, Guinea's national coordinator for the Ebola response. "The thousands of volunteers from Conakry and other areas of Lower Guinea, but also the many Guinean doctors, data managers and community mobilisers have contributed to finding a line of defence against a terrible disease."
"The 'ring' vaccination method adopted for the vaccine trial is based on the smallpox eradication strategy," said John-Arne Røttingen, Director of the Division of Infectious Disease Control at the Norwegian Institute of Public Health and Chair of the Study Steering Group. "The premise is that by vaccinating all people who have come into contact with an infected person you create a protective 'ring' and stop the virus from spreading further. This strategy has helped us to follow the dispersed epidemic in Guinea, and will provide a way to continue this as a public health intervention in trial mode."
The vaccination trial began in late March and ended in late July 2015. The study compared two groups – given a single dose either immediately or delayed for 21 days. In the 90 clusters who received either immediate vaccination (48; 4123 adults vaccinated) or delayed vaccination (42; 3528 adults vaccinated on day 21), a single intramuscular injection of VSV-ZEBOV gave complete (100%) protection against Ebola 10 days after randomisation.
"Before the trial started, in most clusters there had been a series of Ebola cases over the weeks prior to randomisation. However, since the trial started, we have seen no new cases in vaccinated volunteers within 10 days of vaccination, regardless of whether vaccination was immediate or delayed," explains co-author Dr Marie Paule Kieny, from the World Health Organisation (WHO) in Geneva, Switzerland.
The Ebola vaccine needs to be kept at a temperature of -80°C (-112°F). These vaccine storage devices use jet fuel
to keep the right temperature for up to 5 days in the field, even if the storage container is opened several times a day.
Here a vaccine core is being inserted into the storage device. Credit: WHO
"This is a remarkable result which shows the power of equitable international partnerships and flexibility," said Jeremy Farrar, Director of the UK's Wellcome Trust, one of the funders of the trial. "This partnership also shows that such critical work is possible in the midst of a terrible epidemic. It should change how the world responds to such emerging infectious disease threats. We, and all our partners, remain fully committed to giving the world a safe and effective vaccine."
"Ebola has claimed thousands of lives and devastated communities across West Africa," said UK international development secretary, Justine Greening. "The results of these UK-backed vaccine trials are hugely promising and represent a significant breakthrough in our battle against this deadly disease. The vaccine offers hope for a future where we never have to face an Ebola epidemic like this again."
"This record-breaking work marks a turning point in the history of health R&D," said Assistant Director-General Marie-Paule Kieny, who leads the Ebola Research and Development effort at WHO. "We now know that the urgency of saving lives can accelerate R&D. We will harness this positive experience to develop a global R&D preparedness framework so that if another major disease outbreak ever happens again, for any disease, the world can act quickly and efficiently to develop and use medical tools and prevent a large-scale tragedy."
The trial design was developed by a group of experts from Canada, France, Guinea, Norway, Switzerland, the UK, USA, and WHO. The group included Professor Donald A. Henderson of John Hopkins University, who led the WHO smallpox eradication effort by using the ring vaccination strategy.
Cumulative totals of Ebola cases and deaths over time, April 2014 to July 2015. By Leopoldo Martin R [CC BY-SA 3.0], via Wikimedia Commons
3rd August 2015
New technique for nanoscale images of the brain
A new technique for obtaining nanoscale images of the brain at higher resolution than ever before is announced by Boston scientists.
Multiple synapses of the same axon innervate multiple spines of the same postsynaptic cell. An extreme example
in which one axon (blue) innervates five dendritic spines (orange, labelled 1–5) of a basal dendrite (green) is shown.
Arrows point to other varicosities (swellings) of this axon that are innervating dendritic spines of other neurons.
Credit: Narayanan Kasthuri et al./Cell.
A new imaging tool developed by Boston scientists could do for the brain what the Hubble Space Telescope did for astronomy. In the first demonstration of how the technology works, published in the journal Cell, the researchers look inside the brain of an adult mouse at a scale previously unachievable, generating images at 3 nanometre (nm) pixel resolution. The inventors' long-term goal is to make the resource available to the scientific community in the form of a national brain observatory.
"I'm a strong believer in bottom up-science, which is a way of saying that I would prefer to generate a hypothesis from the data and test it," says senior study author Jeff Lichtman, of Harvard University. "For people who are imagers, being able to see all of these details is wonderful and we're getting an opportunity to peer into something that has remained somewhat intractable for so long. It's about time we did this, and it is what people should be doing about things we don't understand."
The researchers have begun the process of mining their imaging data by looking first at an area of the brain that receives sensory information from mouse whiskers, which help the animals orient themselves and are even more sensitive than human fingertips. The scientists used a program called VAST, developed by co-author Daniel Berger of Harvard and the Massachusetts Institute of Technology, to assign different colours and piece apart each individual "object" (e.g., neuron, glial cell, blood vessel cell, etc.).
"The complexity of the brain is much more than what we had ever imagined," says study first author Narayanan "Bobby" Kasthuri, of the Boston University School of Medicine. "We had this clean idea of how there's a really nice order to how neurons connect with each other, but if you actually look at the material it's not like that. The connections are so messy that it's hard to imagine a plan to it, but we checked and there's clearly a pattern that cannot be explained by randomness."
The researchers see great potential in the tool's ability to answer questions about what a neurological disorder actually looks like in the brain, as well as what makes the human brain different from other animals and different between individuals. Who we become is very much a product of the connections our neurons make in response to various life experiences. To be able to compare the physical neuron-to-neuron connections in an infant, a mathematical genius, and someone with schizophrenia would be a leap in our understanding of how our brains shape who we are (or vice versa).
The cost and data storage demands for this type of research are still high, but the researchers expect expenses to drop over time (as has been the case with genome sequencing). To facilitate data sharing, the scientists are now partnering with Argonne National Laboratory with the hopes of creating a national brain laboratory that neuroscientists around the world can access within the next few years.
"It's bittersweet that there are many scientists who think this is a total waste of time as well as a big investment in money and effort that could be better spent answering questions that are more proximal," Lichtman says. "As long as data is showing you things that are unexpected, then you're definitely doing the right thing. And we are certainly far from being out of the surprise element. There's never a time when we look at this data that we don't see something that we've never seen before."
31st July 2015
New antibiotics breakthrough
A potential new class of antibiotics based on modified sugar molecules is reported by scientists in Australia.
A special type of synthetic sugar could be the latest weapon in the fight against superbugs. Researchers from the University of Queensland and Queensland biotechnology company Alchemia have discovered a potential new class of antibiotics inspired by sugar molecules produced by bacteria.
New antibiotics to which bacteria are unlikely to develop resistance are urgently needed to combat the rise of drug-resistant "superbugs". Last year the World Health Organisation (WHO) issued a report warning that antimicrobial resistance is a major global threat to public health. It is no longer a prediction for the future, but is happening right now, in every region of the world.
This new research, led by Professor Matt Cooper and Dr Johannes Zuegg from UQ's Institute for Molecular Bioscience (IMB) in partnership with Alchemia, was published in scientific journal Nature Communications. Professor Cooper, Director of the IMB Centre for Superbug Solutions, said bacteria are less likely to become resistant to an antibiotic based on a modified version of their own sugar.
"Bacteria have cell walls similar to the walls of a brick house – except instead of mortar, the walls are held together by sugar polymers," he comments. “But if you add one of our modified sugar molecules, they stop the linking process, destroying the cell wall and killing the bacteria. The cell wall has been a target for antibiotics such as penicillin and vancomycin before, but the difference here is that we are stopping a centrally important part of the cell wall linking process.”
His colleague, Dr Zuegg said the team examined hundreds of versions of Alchemia’s modified sugar molecules to find those that will kill bacteria and are non-toxic to human cells:
“Most molecules screened to become drugs have a flat, planar shape, whereas these molecules are three dimensional,” Dr Zuegg said. “This means we can build on the sugar core in a variety of ways, to make thousands of different combinations in three-dimensional space.”
The team included researchers from the University of Warwick in the UK, Academia Sinica in Taiwan and Ghent University in Belgium. The work was supported by Australian and overseas organisations including Alchemia, the National Health and Medical Research Council, Bayer Animal Health and the Wellcome Trust.
23rd July 2015
World's first bionic eye implant for a patient with macular degeneration
U.S. firm Second Sight has announced that the first age-related macular degeneration patient has received its Argus II bionic eye at Manchester Royal Eye Hospital in the UK, as part of a ground-breaking study.
Second Sight – a developer of visual prosthetics – yesterday announced the first implant and successful activation of the Argus II Retinal Prosthesis System (Argus II) in a dry age-related macular degeneration (AMD) patient. Ray Flynn, 80, who has total loss of his central vision, can now make out the direction of white lines on a computer screen using the retinal implant. In an interview with the BBC, Mr Flynn said he was “delighted” with the implant and hoped in time it would improve his vision sufficiently to help him with day-to-day tasks like gardening and shopping.
The implant is part of a feasibility study aiming to evaluate the safety and utility of the Argus II System in individuals with late-stage Dry AMD, a condition that severely affects central vision. The implant was performed at the Manchester Royal Eye Hospital in the United Kingdom by Dr. Paulo Stanga MD, Consultant Ophthalmologist & Vitreoretinal Surgeon. The device was activated approximately two weeks after implantation, and initial reports confirm that Flynn is receiving some useful vision. The Argus II has already been tested and approved in the United States and Europe for individuals with Retinitis Pigmentosa (RP) and Outer Retinal Degeneration, respectively.
“The difference between RP and Dry AMD is that RP primarily affects the peripheral vision, whereas AMD primarily affects the central vision. Retinal implants for individuals with AMD may restore some useful vision in their central visual field, which is non-functional due to degeneration of the photoreceptors. The goal in restoring this central vision is to provide individuals with AMD more natural vision and ultimately improve their independence and quality of life," says Dr. Stanga. “This is totally ground-breaking research, where positive results from the study could provide advanced Dry AMD patients with a new alternative treatment.”
The Argus II works by using a video camera mounted on sunglasses worn by the patient. This transmits images to a chip inside the eye, which shares the signals with an array of 60 electrodes (in a 6 × 10 grid). These electrodes convey electric fields to neural impulses, which are sent to the brain and interpreted as vision, restoring the ability to discern light, movement and shapes.
Eligibility for this study includes patients 25 to 85 years of age with advanced dry AMD, some residual light perception, and a previous history of useful form vision. Study subjects will be followed for three years to evaluate safety and utility of the Argus II system on visual function. Pending positive study results, the company plans to conduct a larger study to support market approvals. It is estimated that two million individuals worldwide are legally blind due to AMD and 375,000 people are blinded by RP.
Second Sight Chief Executive Officer, Dr. Robert Greenberg, comments: “We are very excited to begin such an important study for this patient population and to have the opportunity to help a great deal more people living with blindness. Though it is obviously still early in this clinical trial, we are very encouraged by these initial results.”
The launch of this study is another step toward Second Sight’s mission to enable blind people to achieve greater independence. Earlier this year, the first Orion I Visual Cortical Prostheses were implanted in animals to evaluate fit, form, stability, and biocompatibility. Human trials for the Orion I are planned to commence by Q1 2017. If successful, the Orion I has the potential to address nearly all forms of blindness.
4th July 2015
The first comprehensive analysis of the woolly mammoth genome
The first comprehensive analysis of the mammoth genome has been completed – revealing a number of traits that enabled the animals to survive the Arctic cold.
CREDIT: IMAGE COURTESY OF GIANT SCREEN FILMS © 2012 D3D ICE AGE, LLC
2015 is turning out to be a significant year for research on mammoths. In March, DNA from an ancient specimen was spliced into that of an elephant and shown to be functional for the first time. In April, a team sequenced the entire genome of the extinct animal. Following those breakthroughs, it is now reported that scientists have completed the first detailed analysis of the genome, revealing extensive genetic changes that helped mammoths adapt to life during the Ice Age.
The research was published this week in the peer-reviewed journal Cell Reports. It concludes that mammoths possessed genes with striking differences to those found in elephants. These genes played roles in skin and hair development, fat metabolism, insulin signalling and numerous other traits for adaptation in extreme cold environments. Genes linked to physical traits such as skull shape, small ears and short tails were also identified. As a test of their function, a mammoth gene involved in temperature sensation was "resurrected" in the laboratory and its protein product characterised.
“This is by far the most comprehensive study to look at the genetic changes that make a woolly mammoth a woolly mammoth,” says Vincent Lynch, PhD, assistant professor of human genetics at the University of Chicago. “They are an excellent model to understand how morphological evolution works, because mammoths are so closely related to living elephants, which have none of the traits they had.”
Well-studied due to the abundance of skeletons, frozen carcasses and depictions in prehistoric art, these animals possessed long, coarse fur, a thick layer of subcutaneous fat, small ears and tails and a brown-fat deposit behind the neck which may have functioned similar to a camel hump. They last roamed the frigid tundra steppes of northern Asia, Europe and North America roughly 10,000 years ago.
Artist's impression of the northern hemisphere during the last Ice Age. By Ittiz (Own work) [CC BY-SA 3.0], via Wikimedia Commons.
Previous efforts to sequence preserved mammoth DNA were error-prone, or yielded insights into only a limited number of genes. Lynch and his team performed deep sequencing of two specimens to identify 1.4 million genetic variants unique to woolly mammoths. These are now known to have caused changes to the proteins produced by around 1,600 genes.
Of particular interest was a group of genes responsible for temperature sensation, which also play roles in hair growth and fat storage. The team used ancestral reconstruction techniques to “resurrect” the mammoth version of one of these genes, TRPV3. When transplanted into human cells in the lab, the mammoth TRPV3 gene produced a protein that was less responsive to heat than an ancestral elephant version of the gene. This result is supported by experiments with TRPV3 on mice, which prefer colder environments and have wavier hair than normal mice.
However, although the functions of these genes match well with the environment in which woolly mammoths were known to live, Lynch warns that it is not direct proof of their effects in live mammoths. Regulation of gene expression, for example, is extremely difficult to study through the genome alone.
“We can’t know with absolute certainty the effects of these genes unless someone resurrects a complete woolly mammoth, but we can try to infer by doing experiments in the laboratory,” he says. Lynch and his colleagues are now identifying candidates for other mammoth genes to functionally test, alongside planning experiments to study mammoth proteins in elephant cells.
High-quality sequencing and detailed analysis of genomes can serve as a blueprint for efforts to “de-extinct” the woolly mammoth, according to Lynch: “Eventually, we’ll be technically able to do it,” he states. “But the question is: if you’re technically able to do something, should you do it? I personally think no. Mammoths are extinct and the environment in which they lived has changed. There are many animals on the edge of extinction we should be helping instead.”
27th June 2015
Two important breakthroughs in pancreatic cancer
Pancreatic cancer is among the deadliest known cancers, with a very low survival rate. Two separate but related studies were recently published that offer new hope for both detecting and treating the disease.
Blausen.com/Wikiversity Journal of Medicine [CC BY 3.0]
In the USA, the five-year survival rate for pancreatic cancer is only around 7 per cent. Progress towards finding a cure has been very slow compared to other types of cancer with only small, incremental advances over the last few decades. At the current rate of progress, it will take almost two centuries for the survival figure to reach 100 per cent (see "When will cancer be cured?"). As death rates from other cancers begin to fall, the Pancreatic Cancer Action Network predicts that pancreatic cancer will rise from the 4th to the 2nd leading cause of cancer death by 2020.
Part of what makes pancreatic cancer so deadly is the fact that it tends to be detected at a very late stage. By the time a patient knows they have it, options for treatment are very limited and in many cases it is already terminal. Improving the early detection and diagnosis of the illness to expose hidden tumours has been a major focus of research.
This week, a new study by the M.D. Anderson Cancer Centre, part of the University of Texas, was published in the journal Nature. The paper describes a protein that is found on exosomes (tiny particles released by cancer cells). This protein results in "cancer exomes" that are known as GPC1+ crExos. Researchers were able to distinguish – with 100% accuracy – between healthier patients with a benign pancreatitic disease, and those with early stage pancreatic cancer itself – based on the presence of this protein. Levels of the protein were much lower after surgical removal of tumours. This finding could lead to a blood test that would allow doctors to screen for pancreatic cancer much more effectively.
"GPC1+ crExos were detected in small amounts of serum from about 250 patients with pancreatic cancer with absolute specificity and sensitivity, importantly distinguishing patients with [non-cancerous] pancreatitis from those with early- and late-stage pancreatic cancer," says Dr. Raghu Kalluri, chair of Cancer Biology, in an accompanying press release. "This presents an unprecedented opportunity for informative early detection of pancreatic cancer and in designing potential curative surgical options."
In addition, he says: "GPC1+ crExos can be detected and isolated in blood samples that were stored in freezers almost 30 years ago, unlike circulating tumour cells (CTCs) that require large amounts of fresh blood. DNA, RNA and proteins can be isolated from cancer exosomes isolated from stored specimens for further genetic and biological analyses. Therefore, cancer exosomes are not just a biomarker – but isolating them provides a trove of cancer-specific information."
The study found that GPC1+ crExos detected the possibility of pancreatic cancer in mouse models, at a time when the mice showed no signs of pancreatic disease from MRI scans.
"Routine screening of the general population for pancreatic cancer using MRIs or CTs would be prohibitively expensive with the likelihood for many false positives," says David Piwnica-Worms, Ph.D., chair of Cancer Systems Imaging. "Our study suggests the potential for GPC1+ crExos as a detection and monitoring tool for pancreatic cancer in combination with imaging – with an emphasis on its application in early detection."
Micrograph of pancreatic ductal adenocarcinoma (the most common type of pancreatic cancer). Credit: KGH [CC BY-SA 3.0].
A second, separate paper was published this month in the journal Scientific Reports. This study explains how scientists from University College London (UCL) designed a new chemical compound, able to reduce the growth of pancreatic cancer tumours in mice by 80%. This compound – known as MM41 – can block faulty genes by targeting little knots in their DNA, called quadruplexes, which are very different from normal DNA and are especially found in faulty genes. It is confirmed that MM41 has a strong inhibiting effect on two genes – k-RAS and BCL-2 – both of which are found in the majority of pancreatic cancers.
The UCL team, led by Professor Stephen Neidle, conducted a small-scale trial involving two groups of eight mice with pancreatic tumours using different doses of the compound, twice a week for 40 days. A further control group received no treatment. The tumours in the group given the larger dose decreased by an average of 80% during the treatment period, and after 30 days, regrowth stopped in all the mice. For two of the mice in this group, the tumour disappeared completely with no signs of regrowth at all following the end of treatment, for a further 239 days (equivalent to the rest of their average natural life span).
Analysis of the mice tumours showed that the MM41 compound had been taken up into the nucleus of the cancer cells, showing that it was able to effectively target the pancreatic cancer tumour. No significant side effects were observed on the mice during the study: there was no damage to other tissue or organs and none of the mice showed any significant weight loss.
Discussing the results, Neidle explained: "This research provides a potentially very powerful alternative approach to the way that conventional drugs tackle pancreatic cancer, by targeting a very specific area of the DNA of faulty genes. One of the genes that MM41 blocks – the BCL-2 gene – is involved in regulating apoptosis, the body's natural process which forces cells to die if they become too damaged or unhealthy to be repaired. BCL-2 is present in high amounts in many tumours and helps cancer cells to survive, but when the BCL-2 gene is blocked by MM41 in mice, the cancer cells succumb to apoptosis and die."
Neidle stresses that although these results are exciting, MM41 is not ideal for trialling in humans and further refinements are needed: "We are now working to optimise this class of compounds, but it's clearly worthy of further investigation for potential use in treating pancreatic cancer in people."
19th June 2015
First full genome of a living organism sequenced and assembled using technology the size of smartphone
Researchers in Canada and the U.K. have for the first time sequenced and assembled de novo the full genome of a living organism, the bacteria Escherichia Coli, using Oxford Nanopore’s MinION device – a genome sequencer that can fit in the palm of your hand.
The findings, published this week in the journal Nature Methods, provide proof of concept for the technology and the methods lay the groundwork for using it to sequence full (as opposed to partial) genomes in increasingly more complex organisms – eventually including humans – said Jared Simpson, Principal Investigator at the Ontario Institute for Cancer Research and a lead author on the study.
“The amazing thing about this device is that it is many times smaller than a normal sequencer – you just attach it to a laptop using a USB cable,” said Simpson. “And while our work is a demonstration of the capabilities of the technology, the most significant advance is in the methods. We were able to mathematically model nanopore sequencing and develop ways to reconstruct complete genomes off this tiny sequencer.”
While standard sequencing platforms can either generate vast amounts of data, or read long enough stretches of the genome to allow complete reconstruction, the Nanopore device has the potential to achieve both goals, according to Simpson: “Long reads are necessary to assemble the most repetitive parts of genomes but we need a lot of reads if we want to sequence human genomes. The small size of the MinION suggests there is room to scale up and sequence larger and more complex samples,” Simpson said.
A drawback of the technology is that the single reads it produces are currently less accurate than the reads produced by larger devices. Strong bioinformatics tools are needed to correct errors. The methods Simpson and colleagues developed are able to overcome the error rate and compute a more accurate final sequence.
"This was a fantastic example of a successful long distance research collaboration between Canada and the U.K.,” said Dr. Nicholas Loman, a co-lead author on the paper and an Independent Research Fellow from the Institute of Microbiology and Infection at University of Birmingham. “We explored new ways of working, including hosting a hackathon to explore new algorithm development and using shared computing resources on the Medical Research Council funded Cloud Infrastructure for Microbial Bioinformatics (CLIMB) based in the U.K. Midlands and Wales."
The method of assembly the authors devised had three stages. First, overlaps between sequence reads are detected and corrected using a multiple alignment process. Then the corrected reads are assembled using the Celera assembler and finally the assembly is refined using a probabilistic model of the electric signals caused by DNA moving through the nanopore.
“This work has incredible potential,” said Dr. Tom Hudson, President and Scientific Director of the Ontario Institute for Cancer Research. “Scaled up, this technology could one day be used to sequence tumour genomes. The device’s portable nature would allow for sequencing to become far more accessible, bringing the option of more personalised diagnosis and treatment to more patients.”
As the speed, accuracy and cost of whole genome sequencing continues to improve, a wide range of practical applications will become possible. Investigators at crime scenes, for example, could analyse biological evidence without having to return to the laboratory. Foreign aid workers in developing nations could identify viruses and verify water quality. Food inspectors could check for harmful pathogens in restaurants. Wildlife biologists could study genes in the field.
18th June 2015
World's most lifelike bionic hand will transform the lives of amputees
A congenital amputee from London has become the first user in the UK to be fitted with a new prosthetic hand that launches this week and sets a new benchmark in small myoelectric hands.
Developed using Formula 1 technology and specifically in scale for women and teenagers, the bebionic small hand is built around an accurate skeletal structure with miniaturised components designed to provide the most true-to-life movements.
The bebionic small hand, developed by prosthetic experts Steeper, will enable fundamental improvements in the lives of thousands of amputees across the world. The hand marks a turning point in the world of prosthetics as it perfectly mimics the functions of a real hand via 14 different precision grips. A bionic extension of the arm that enables the utmost dexterity will enable amputees to engage in a range of activities that would have previously been complex and unmanageable.
Nicky Ashwell, 29, born without a right hand, received Steeper's latest innovation at a fitting by London Prosthetics Centre, a private facility providing expert services in cutting-edge prosthetics. Before being fitted with the bebionic small hand, Nicky would use a cosmetic hand without movement; as a result, Nicky learned to carry out tasks with one hand. The bebionic small hand has been a major improvement to Nicky's life, enabling her to do things previously impossible with one hand such as riding a bike, gripping weights with both hands, using cutlery and opening her purse.
Nicky, who is a Product Manager at an online fashion forecasting and trend service, said: "When I first tried the bebionic small hand it was an exciting and strange feeling; it immediately opened up so many more possibilities for me. I realised that I had been making life challenging for myself when I didn't need to. The movements now come easily and look natural; I keep finding myself being surprised by the little things, like being able to carry my purse while holding my boyfriend's hand. I've also been able to do things never before possible like riding a bike and lifting weights."
Bebionic small hand works using sensors triggered by the user's muscle movements that connect to individual motors in each finger and powerful microprocessors. The technology comprises a unique system which tracks and senses each finger through its every move – mimicking the functions of a real hand. Development follows seven years of research and manufacturing, including the use of Formula 1 techniques and military technology along with advanced materials including aerograde aluminium and rare Earth magnets.
Ted Varley, Technical Director at Steeper said, "Looking to the future, there's a trend of technology getting more intricate; Steeper has embraced this and created a smaller hand with advanced technology that is suitable for women and teenagers. An accurate skeletal structure was firstly developed, with the complex technology then specifically developed to fit within this in order to maintain anatomical accuracy. In other myoelectric hands the technology is developed first, at the expense of the lifelikeness."
Bebionic small hand at a glance:
• Contains 337 mechanical parts
• 14 grip patterns and hand positions to allow a range of precision movements
• Weighs approximately 390g – the same as a large bar of Galaxy chocolate
• 165mm from base to middle fingertip – the size of an average woman's hand
• Strong enough to handle up to 45kg – around the same as 25 bricks
• The only multi-articulated hand with patented finger control system using rare Earth magnets
• Specifically designed with women, teenagers and smaller-framed men in mind
21st May 2015
Brain plasticity restored in older mice
Scientists have reactivated neuroplasticity in older mice, restoring their brains to a more youthful state. In the future, this treatment could be replicated in human patients.
In the adult brain, connections are difficult to change – while in children, novel experiences rapidly mould new connections during critical periods of their brain development.
At the University of California, Irvine, neurobiologist Sunil Gandhi and colleagues wanted to know whether the flexibility of the juvenile brain could be restored to the adult brain. Apparently, it can: they've successfully re-created a critical juvenile period in the brains of adult mice. In other words, the researchers have reactivated "brain plasticity" – the rapid and robust changes in neural pathways and synapses as a result of learning and experience. Their breakthrough could lead to new treatments for developmental brain disorders such as autism and schizophrenia.
The scientists achieved this by transplanting a certain type of embryonic neuron into the brains of adult mice. The transplanted neurons express GABA – a chief inhibitory neurotransmitter that aids in motor control, vision and other cortical functions. Just as older muscles lose youthful flexibility, older brains lose plasticity. But in the Gandhi study, the transplanted GABA neurons created a new period of heightened plasticity that allowed for vigorous rewiring of the adult brain. In a sense, old brain processes became young again.
In early life, normal visual experience is crucial to properly wire connections in the visual system. Impaired vision during this time leads to a long-lasting visual deficit known as amblyopia. In an attempt to restore normal sight, the researchers transplanted GABA neurons into the visual cortex of adult amblyopic mice.
"Several weeks after transplantation, when the donor animal's visual system would be going through its critical period, the amblyopic mice started to see with normal visual acuity," said Melissa Davis, a postdoctoral fellow and lead author of the study.
These results raise hopes that GABA neuron transplantation might have future clinical applications. This line of research is also likely to shed light on the basic brain mechanisms that create critical periods.
"These experiments make clear that developmental mechanisms located within these GABA cells control the timing of the critical period," said Gandhi.
He added that the findings point to the use of GABA cell transplantation to enhance retraining of the adult brain after injury. Furthermore, this work sparks new questions as to how these transplanted GABA neurons reactivate plasticity – the answers to which might lead to therapies for currently incurable brain disorders.
10th May 2015
3-D technology detects 40 percent more breast cancers than mammography
A new 3-D technology known as tomosynthesis has been shown to detect 40 percent more breast cancers than mammography, while also lowering the radiation dose.
Breast cancer is the most common type of cancer in women worldwide. More than 1.7 million cases were diagnosed in 2012, with half a million deaths in the same year. Tomosynthesis detects 40% more breast cancers than traditional mammography does, according to a major screening study from Lund University, Sweden. This is the first large-scale study to compare the screening method with regular mammograms. The new 3-D X-ray technique is also more comfortable for women, as breast compression is halved. A total of 7,500 women aged 40–74 took part in the first half of the study, which formed the basis for the findings.
“We see a change as inevitable. Breast tomosynthesis will be introduced, it is just a question of when and on what scale,” explains Sophia Zackrisson and Kristina Lång, radiologists at Skåne University Hospital in Malmö and researchers at Lund University.
Breast tomosynthesis works on the same principle as tomography. This means that X-ray images of the breast are acquired from different angles, which can then show multiple thin layers of the breast. This is compared with a traditional mammography, where all the breast tissue is reproduced in a single 2-D image, which can hinder the early detection of tumours.
The new technique also reduces discomfort and pain, because the breast does not have to be compressed as firmly as in the current examination technique. This could lead to higher levels of participation in future screening programmes. Among the other advantages are lower radiation doses than in traditional mammography, and the ready availability of the equipment on the market, which would facilitate a transition.
However, there are a few challenges remaining before the method can be introduced on a large scale. As with other screening methods, there is a risk of overdiagnosis (in mammography screening, the figure is 10–20 per cent). The researchers do not know what that number is for tomosynthesis, and further studies are needed to investigate the rate of overdiagnosis with tomosynthesis.
The study found that there was an increase in the recall rate, meaning more healthy women with benign lesions were recalled for further testing. This is a major drawback in screening, says Kristina Lång, as it can cause unnecessary psychological stress.
The ongoing research will also look at costs. Breast tomosynthesis is a somewhat more expensive technique.
“We see five to ten years from now as a possible timeframe for the large-scale introduction of the technique. There is also an aspiration for more personalised screening, and breast tomosynthesis could therefore be one of several methods used”, concludes Sophia Zackrisson.
30th April 2015
Rubella has been eradicated from the Americas
The World Health Organisation (WHO) has officially declared that rubella – also known as the German measles – has been eradicated from the Western Hemisphere.
The Americas region has become the first in the world to be declared free of endemic transmission of rubella, a contagious viral disease that can cause multiple birth defects, as well as foetal death when contracted by women during pregnancy. This achievement culminates a 15-year effort that involved widespread administration of the measles, mumps and rubella (MMR) vaccine throughout the Western Hemisphere.
The declaration, made by an international expert committee during a meeting at the Pan American Health Organisation/World Health Organisation (PAHO/WHO), makes rubella the third disease to be eliminated from the Americas – following the regional eradication of smallpox in 1971 and the elimination of polio in 1994. Congenital rubella syndrome (CRS) becomes the fourth.
"The elimination of rubella from the Americas is a historic achievement that reflects the collective will of our region's countries to work together to achieve ambitious public health milestones," said PAHO/WHO Director, Carissa Etienne. "Ours was the first region to eradicate smallpox, first to eliminate polio, and now the first to eliminate rubella. All four achievements prove the value of immunisation and how important it is to make vaccines available even to the remotest corners of our hemisphere."
"Three years ago, governments agreed a Global Vaccine Action Plan. One of the plan's targets is to eliminate rubella from two WHO regions by end-2015. I congratulate the Americas Region for being the first region to achieve this," said Dr Margaret Chan, director general of the World Health Organisation.
Rubella, also known as German measles, caused widespread outbreaks throughout the Americas before the introduction of the MMR vaccine. Although the virus usually causes mild or asymptomatic infections in children and adults, when contracted by women early in pregnancy it can trigger miscarriage or CRS, an array of birth defects that includes blindness, deafness, and congenital heart defects. Before mass-scale rubella vaccination up to 20,000 or more children were born with CRS each year in Latin America and the Caribbean, while over 158,000 rubella cases were reported in 1997 alone. In the United States, 20,000 infants were born with CRS during the last major rubella outbreak (1964-65).
The last endemic (local origin) cases of rubella and CRS were reported in the Americas during 2009. Because the virus continues to circulate in other parts of the world, imported cases from outside the Americas have continued to be reported. Experts reviewed evidence provided by PAHO/WHO and concluded there was no endemic transmission of rubella or CRS for five consecutive years – exceeding the three-year requirement for declaring the disease eliminated. Other regions hoping to follow next include Eastern Europe, Russia and Central Asia.
"The fight against rubella has taken more than 15 years, but it has paid off with what I believe will be one of the most important Pan-American public health achievements of the 21st century," said Etienne. "Now it's time to roll up our sleeves and finish the job of eliminating measles as well."
24th April 2015
Human embryos genetically modified by Chinese scientists
In a world first, researchers at Sun Yat-sen University in Guangzhou, China, admit to having edited the genome of live human embryos to see the effect on a fatal blood disorder, thalassaemia.
The research is banned in Europe – but Chinese scientists have confirmed that they recently edited the DNA of human embryos for the very first time. Researchers at Sun Yat-sen University, led by Junjiu Huang, have tried to ease concerns by explaining that they used non-viable embryos, which cannot result in a successful live birth, that were obtained from local fertility clinics. Huang's team used a revolutionary new technique known as CRISPR/Cas9, discovered by scientists at MIT.
A total of 86 embryos were injected with the Cas9 protein and left for two days while the gene-editing process took place. Of these, 71 survived and subsequent tests revealed that 28 were successfully spliced, but only a fraction contained the genetic material needed to prevent the fatal blood disorder thalassaemia. Unexpected mutations were also noticed in the genes.
"I think that this is a significant departure from currently accepted research practice," said Shirley Hodgson, Professor of Cancer Genetics, St George's University of London. "Can we be certain that the embryos that the researchers were working on were indeed non-viable? Any proposal to do germline genetic manipulation should be very carefully considered by international regulatory bodies before it should be considered a serious research prospect."
"This news emphasises the need for an immediate global ban on the creation of GM designer babies," comments Dr David King, director of UK watchdog Human Genetics Alert. "It is critical that we avoid a eugenic future in which the rich can buy themselves a baby with built-in genetic advantages. It is entirely unnecessary since there are already many ethical ways to avoid thalassaemia. This research is a classic example of scientific careerism – assuring one's place in the history books even though the research is unnecessary and unethical."
"The study is a landmark, as well as a cautionary tale," says George Daley, a stem-cell biologist at Harvard Medical School in Boston. "Their study should be a stern warning to any practitioner who thinks the technology is ready for testing to eradicate disease genes."
The research appears in the journal Protein and Cell after the prestigious journals Nature and Science refused to publish it on ethical grounds.