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Sharon Terry: Science didn’t understand my kids’ rare disease until I decided to study it

Meet Sharon Terry, a former college chaplain and stay-at-home mom who took the medical research world by storm when her two young children were diagnosed with a rare disease known as pseudoxanthoma elasticum (PXE). In this knockout talk, Terry explains how she and her husband became citizen scientists, working midnight shifts at the lab to find the gene behind PXE and establishing mandates that require researchers to share biological samples and work together.

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IBM, Scientists Seek Public’s Help With Millions Of Virtual Experiments Mapping The Human Microbiome

The Microbiome Immunity Project aims to help scientists understand how the trillions of bacteria in our bodies impact human disease. IBM’s World Community Grid wants to harness the computing power donated by millions of volunteers from all over the world to do it.

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Bioengineered Lungs With Intact Blood Vessels Just Came One Step Closer to Reality

A group of researchers at Columbia University’s School of Engineering and Applied Science have successfully developed the first functional vascularised lung scaffold, and it could dramatically change how lung disease is treated.

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Scientists Have Uncovered The Atomic Structure of a Key Alzheimer’s Protein For The First Time

For the first time, scientists have revealed the chemical structure of one of the key markers of Alzheimer’s disease, capturing high-resolution images of the abnormal tau protein deposits suspected to be behind Alzheimer’s and other neurodegenerat

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Projects | The Francis Crick Institute

The Crick is dedicated to researching the science underlying health and disease, turning discoveries into treatments to improve lives. Free exhibitions & events.

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The innate immune system modulates the severity of multiple sclerosis

Multiple sclerosis, a debilitating neurological disease, is triggered by self-reactive T cells that successfully infiltrate the brain and spinal cord where they launch an aggressive autoimmune attack against myelin, the fatty substance that surrounds and insulates nerve fibers. Over time, the resulting bouts of inflammation permanently damage the myelin sheath and the nerve fibers it protects, disrupting nerve signals traveling to and from the brain.

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The great gene editing debate

This year has seen the debate around gene editing erupt with CRISPR/Cas9 emerging as the latest, and by far most profound, scientific development in the field so far. Some are claiming that CRISPR/Cas9 has ushered in a new, more formidable, era of editing the human genome. It has been hailed as both a villain and a saviour, as proponents and opponents line up on either side, ready to either ridicule or praise. The dispute is centered upon the possible social, ethical, and political implications, regardless of the fact that  gene editing could provide us with cures for genetic diseases that affect millions across the world. A statement from a letter published in Nature, written by a leading group of scientists led by Edward Lanphier, chairman of the Alliance for Regenerative Medicine in Washington DC, presented the problem, “We are concerned that a public outcry about such an ethical breach could hinder a promising area of therapeutic development”. Others though, such as Jennifer Doudna, a key pioneer in the development of CRISPR/Cas9, claim that the scientific community cannot rush into gene editing, as it could lead to further frightening outcomes which cannot be harnessed, such as designer babies, and biohacking, “invoking the dystopic vision of a eugenics future”. The recent turn of eventsThis year saw the real spark of the new debate, not only in the form of one specific development, but rather hundreds of them, entering the scientific sphere from thousands of research institutions and laboratories now using CRISPR/Cas9. It has taken the scientific community by storm. We have seen the designing of extra muscular animals, the removal of HIV genes from infected cells, and more recently research aimed at curing cancer. Attempts were made, in April of this year, by Chinese scientists to genetically engineer human embryos, which, in the thick of all the recent developments stuck out as a step too far. Genetically modifying human embryos is possibly the most controversial area of scientific inquiry, with many claiming that scientists are rubbing up too close to God.Currently in Britain, embryo research can only proceed under review from the HFEA, and embryos must be destroyed within 14 days. It is widely agreed, in both the UK and the US, that human embryo research is not nearly safe enough or prepared for use in clinics yet. There are clear concerns as to what harmful consequences and generational complications may arise. This move then, by Chinese scientists at Sun Yat-sen University that explored genome editing within fertilized human eggs, called zygotes, has angered many within the scientific community. Although confirmed to be at a very basic level of embryo research, it has led to a surged international outcry about the progression of these techniques.In the US the situation has become particularly intense, with a letter published in the prestigious journal Science. The letter, written by a group of scientists, called for a ‘framework for open discourse’ on the use of gene editing on humans, alongside discussion about proposed boundaries, and standardizing and benchmarking the industry. This letter was followed by another, published in Nature, talking about the ‘grave concerns regarding the ethical and safety implications of this research.’At the end of the letter they state that what must be clear is the distinction between genome editing in somatic cells and in germ cells. Somatic cells are any cells in the body apart from the sperm and egg cells, and editing of these cells is relatively safe and well researched, and can not be passed down through reproduction. However, germ cells are those cells in the body that will give rise to the gametes of an organism that reproduces sexually, and the research on the effects of editing them is very limited. The letter calls for a voluntary moratorium in the scientific community, which they say would be an ‘effective way to discourage human germline modification.’ This research, as a world first attempt by the Chinese scientists, presents the ethical line that many are very opposed to crossing, that between editing somatic and germ cells. Germline changes will most likely alter the lives of future generations. The potential ramifications can seem like scary science fiction: researchers developing cures which are later revealed to be worse than the initial disease, bio-hackers editing the genome of influenza, the rich editing themselves leading to greater inequality, or a less destructive outcome, designer babies. Designer babies The concept of designer babies, it seems, is reintroduced with every new development in genetics. The same was said in 1978, when the first child was conceived through in vitro fertilisation, and again in 2001, when labs and researchers were pushing the boundaries of human cloning. This is the next installment in the series. However, many people today believe that those previous alarms were pure speculation, whereas now with CRISPR in such high usage and advancement, the methods of genetic selection are already here. The idea is that, as germline editing techniques advance, clinics will begin to offer people the opportunity to choose their child’s appearance, personality, and intelligence. Many are saying that modern society hasn’t fully thought out the ethical implications of this, with no current policies or regulations in place. “No one is prepared for an era when editing DNA is as easy as editing a Microsoft Word document”, stated an article published in The Washington Post. The fear is that progression in this field will lead to a strange dystopia, with some people being able to afford genetic treatment, and the rest not. Scientists could design a super intelligent group of people, and they would then move on to be world leaders, or so the story goes. These fears divert from the real problem. Designer babies that are more intelligent or have different appearances, as we imagine, are a definite point for ethical consideration. Though, the truth is that without international control of some sort, like for example in the UK and in Germany, rogue clinics could use germline editing and offer and sell their brand of ‘designer’ babies, of which the outcome could be disastrous.The possibility of designer babies, and the genetically superior, make people most weary of gene editing as a whole, and although it is a possibility, like it was in 1978, and in 2001, it is blurring the real debate. Somatic or Germline1 in 33 children a year in the US are born with birth defects, alongside the 60% of all deaths worldwide which are caused by chronic diseases. Genome editing, if research is funded significantly, would be a medical revolution unlocking new ways to tackle age related diseases.As the letter in Nature confirmed, before international moves are taken to halt or slow the developments, the public and the scientific community must be fully aware of the differences and implications of the two types of cells, somatic and germline.  The research regarding somatic cells is much further developed, and the effects of this gene therapy cannot be passed down from generation to generation. The types of mutations are strictly limited to the descendants of the original cell that developed the mutation. Scientists are already editing the genome of somatic cells. It is viewed as rather conservative and safe, as it only affects the targeted cells of one individual patient. These mutations can cause a number of diseases, including cancer, from which mutations lead to tumours. Somatic cell research must be stepped up and taken onto the next level of awareness, as the potential is huge for tackling age-related disease. The first real problem is that the current controversy that is everyday gaining pace is close to being completely skewed by the ethical and social fears of germline editing. The current public disillusion is having a direct impact on the important work being done on somatic cells. The editing techniques that are currently being developed may offer a powerful approach to treat human diseases including HIV/Aids, haemophilia, cystic fibros
is, muscular dystrophy, sickle cell anaemia, and several forms of cancer.Genetic editing of germline cells is very different, and will almost definitely lead to inherited mutations. The children of a patient of germline editing will also have the edited genome, which could lead to complications yet unknown to science. Germline research is underfunded and under-researched, and with the current calls for an immediate end to further research the potential for germline therapy, if there is one, will never be discovered. “There needs to be a debate… and some rational thought rather than knee-jerk reactions”, stated Professor Robin Lovell-Badge from Medical Research Council in a BBC article. Though, in some cases, a knee-jerk reaction is exactly what has happened. In April of this year the American National Institute of Health released a statement announcing that they will not “fund any use of gene editing technologies in human embryos”, on the basis of “ethical issues presented by altering the germline in a way that affects the next generation without their consent.”Genome therapy, and research into the editing of germline cells within that, could be the next landmark in the history of medicine, like the discovery of penicillin. Germline cell editing should therefore be looked into further, for the sake of the sufferers of those diseases caused by germline mutation, of today and those of the future. We should be thinking of designer babies not through the offers of more intelligence or a better appearance, but rather, without horrible genetic diseases. If germline editing could eradicate a terrible disease from the gene pool, surely the generation of tomorrow will be grateful. If not, and it is too risky, at least the attempt was made. The real problemThe real problem is that the argument has been quickly polarised, between the refrains of a utopia and a dystopia, between the promise of complete disease eradication and a genetic disaster. These strategic refrains prevent a wider discussion about the actual potential and access of the technology between those two poles of argument. It forces a certain public perception that is only concerned with germline cells, and that will lead quite easily down the road to designer babies. The UN Educational, Scientific and Cultural Organization, (UNESCO) have said in a press release that the editing of the human genome is “unquestionably one of the most promising undertaking of science of the sake of all humankind”. They, along with many scientists around the world, call for a moratorium, that should be listened to, against trials on germline cells until there is enough research and evidence to drive forward with its potential. Most of all, the conversation must begin with the radical difference between germline editing and somatic cell editing. These two methods are completely different, and so should be treated independently. The public must be aware of the possible social and ethical implications of germline editing, so that the important debate can take place. But, these implications should not be skewed with the possible extremes, and should be presented alongside the potential for its success to rid the gene pool of certain age-related diseases.

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RNA carried by new nanoparticles can silence genes in many organs, could be deployed to treat cancer

RNA interference (RNAi), a technique that can turn off specific genes inside living cells, holds great potential for treating many diseases caused by malfunctioning genes. However, it has been difficult for scientists to find safe and effective ways to deliver gene-blocking RNA to the correct targets.