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"Absolute breakthrough": New hope in search for Motor Neurone Disease cure

<p>Melbourne researchers are one step closer to finding a cure for Motor Neurone Disease, with the help technology and stem cell research. </p> <p>Scientists at The Florey Institute of Neuroscience and Mental Health have developed a world-first technology that will speed up the drug testing process to help find an effective treatment and maybe even a cure for the disease. </p> <p>New machines at the institute can now help determine whether drugs on the market could be used to treat MND in just weeks, a process which previously took decades. </p> <p>"This is an absolute breakthrough, it's at the cutting edge of technology," Florey MND researcher Professor Brad Turner said.</p> <p>Animal cells were previously used to test the efficacy of MND drugs, but now thanks to more than 100 MND patients who donated their skin cells to the institute, researchers have a library of stem cells to work with. </p> <p>The human stem cells can provide scientists with the full scope of the disease, something that they were previously unable to do with just animal cells. </p> <p>"This is really a game-changer in that we can use their own cells, and we can test drugs directly on their own cells," Florey MND researcher and neurologist Dr Thanuja Dharmadasa said. </p> <p>Large scale screening will commence thanks to a $5 million grant from the Australian Medical Research Future Fund.</p> <p><span style="font-family: -apple-system, BlinkMacSystemFont, 'Segoe UI', Roboto, Oxygen, Ubuntu, Cantarell, 'Open Sans', 'Helvetica Neue', sans-serif;">The research is expected to help people like Phil Camden who has been living with the disease for 10 years. </span></p> <p>"That's the key to all of us living with MND... we want to do what we can while we can," Camden said.</p> <p>"We know we're not doing it to find a cure for us. We're doing it for those in the future, my grandkids and their children."</p> <p>Scientists believe that medication or a cocktail of drugs tailored specifically to a patient is the way forward when it comes to treating the disease. </p> <p>"Therefore your drug treatments are tailed back to the clinical makeup in the dish and we call that personalised medical treatment," Turner said.</p> <p><em>Image: Nine News</em></p> <p> </p>

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"Rest in love": All Blacks legend and Dancing with the Stars winner dies at 55

<p>The sports and entertainment communities are mourning the loss of former All Blacks hooker and <em>Dancing with the Stars</em> winner Norm Hewitt, who has passed away at the age of 55.</p> <p>Hewitt, a beloved figure both on and off the rugby field, succumbed to a lengthy battle with motor neurone disease, as confirmed by his family in a heartfelt statement.</p> <p>"Although rugby dominated his early life, he established a thriving human relations consultancy after retirement, and his services were much in demand both nationally and internationally," his family shared. "He walked confidently in both Māori and Pākehā worlds and was a particular role model for troubled youth, citing his own background, and offering inspirational teachings that one’s present life need not be one’s future."</p> <p>Hewitt leaves behind his wife Arlene and their two children, Elizabeth and Alexander. Born and raised in Pōrangahau, southern Hawke’s Bay, Hewitt's rugby career was nothing short of illustrious. Over 13 seasons, he played 296 representative matches for Hawke’s Bay, Southland and Wellington, earning 23 caps for the All Blacks. Hewitt was also a pivotal member of the Hurricanes during the formative years of Super Rugby, missing only one match in the first five years.</p> <p>The rugby community has been profoundly affected by Hewitt's passing. Former teammate Ofisa Tonu’u posted a touching tribute on Facebook: "I’m just devastated finding out the news today. I will never forget how you always stuck up for me during the Black Tracker days when no one else would, you always look after all the players and we always followed you into battle. No more pain, brother, you can now rest in Love. Fa’afetai tele lava my uso for having my back as I did yours. I know the other boys will be welcoming you with open arms at the gates. Rest in Love, Normy."</p> <p>Beyond his rugby career, Hewitt transitioned into a public speaker and mentor, focusing heavily on violence prevention programmes and advocacy. He worked with the SPCA as an animal cruelty and anti-violence publicity officer, visiting schools to spread his message. In 2005, Hewitt showcased his versatility by winning the first season of<em> Dancing with the Stars</em> alongside professional dancer Carol-Ann Hickmore.</p> <p>Hewitt's life was not without its struggles. In 1999, he made a public apology for a drunken incident in Queenstown, marking a turning point as he renounced alcohol and dedicated himself to helping others facing similar challenges.</p> <p>The outpouring of tributes was immediate, with The All Blacks expressing their sorrow: “We are saddened by the loss of All Black #938 Norm Hewitt who passed away yesterday in Wellington. Hewitt played 9 Tests and 14 Games between 1993 and 1998. Our thoughts are with Norm’s family and loved ones at this time.”</p> <p>Podcaster Martin Devlin shared his personal experience: “RIP Norm Hewitt. Not a lot of people know how kind & generous this man was. A truly wonderful person. Reached out to me and helped me considerably a long time ago when things were very rough. Love & respect.”</p> <p>Richard Hills echoed the sentiments of many: “This is bloody sad. A sad way to lose a kiwi icon so young. He had a really rough childhood and upbringing and faced it and turned his life around to become not only a rugby legend but also helped others who’d been through similar issues.”</p> <p>Norm Hewitt’s legacy will endure through the lives he touched and the positive change he inspired. His story is a testament to the strength of the human spirit and the profound impact one individual can have on the world.</p> <p><em>Image: Radio New Zealand</em></p>

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Son's first dance with mum suffering from motor neurone disease

<p>An emotional wedding video of a wheelchair-bound mother severely affected by motor neurone disease (MND) dancing with her eldest son on his big day has gone viral, with people describing the moment as both heart-breaking and heart-warming at the same time. </p> <p>Kathy Poirer was watching her eldest son Zak get married in a moving ceremony in their native Florida. </p> <p>Despite being unable to walk, Kathy, with the help of her other two children, was able to dance with her eldest child on his big day. </p> <p>The moment was captured on video and has since gone viral, as Kathy said the dance was a dream come true. </p> <p>“I just really wanted that moment with my son,” Poirer told <em>Sunrise</em>. </p> <p>“There are so many milestones in their life and you look forward to them and I was afraid I wouldn’t have that opportunity."</p> <p>“It truly is an expression of a mother and her son and their love for each other.”</p> <p>Kathy was diagnosed with MND more than three years ago, and has bravely fought the diagnosis and challenged the odds against her ever since.</p> <p>“I prayed every day that I would make it long enough to dance with him, and I fight every day for my life,” she said.</p> <p>Motor neurone disease is a condition that affects the body’s brain and the nerve cells called motor neurones.</p> <p>According to <a href="https://www.mndaustralia.org.au/mnd-connect/what-is-mnd/what-is-motor-neurone-disease-mnd" target="_blank" rel="noopener" data-link-type="article-inline">MND Australia:</a> “Motor neurones normally carry messages from the brain to the muscles via the spinal cord. The messages allow people to make voluntary movements like walking, swallowing, talking and breathing."</p> <p>There is currently no cure for MND, and the condition is known to drastically reduce life expectancy. </p> <p>Kathy is devoting the rest of her life to bringing awareness to this devastating disease, while encouraging people not to take life for granted. </p> <p>“What I wanted to do was make people aware that this can happen to you in a heartbeat and just live every moment to the fullest - you never know when it’s gonna get taken away,” she said.</p> <p><em>Image credits: Sunrise</em></p>

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Who’s liable if you’re injured or killed riding an e-scooter?

<p>The rental e-scooter craze is sweeping the globe, with millions of the vehicles dotting pavements in <a href="https://assets.ey.com/content/dam/ey-sites/ey-com/en_gl/topics/automotive-and-transportation/automotive-transportation-pdfs/ey-micromobility-moving-cities-into-a-sustainable-future.pdf" target="_blank" rel="noopener">more than 600 cities</a>. <a href="https://www.bbc.com/future/article/20200608-how-sustainable-are-electric-scooters" target="_blank" rel="noopener">Studies predict</a> there will be 4.6 million shared e-scooters in operation worldwide by 2024.</p> <p>While e-scooters <a href="https://www.mearth.com.au/blogs/news/why-electric-scooters-are-greener-than-you-think" target="_blank" rel="noopener">have been praised</a> as a greener form of transport, they have also caused scores of injuries and even deaths. Australia’s e-scooter fleet is comparatively small at <a href="https://micromobilityreport.com.au/infrastructure/bike-scooter-share/2022-a-year-of-change/" target="_blank" rel="noopener">around 10,000 units</a>, yet major hospitals in <a href="https://9now.nine.com.au/a-current-affair/melbourne-emergency-department-sees-escooter-injuries-daily/9cdd73d5-0bee-4546-ab65-2cf650201e5b" target="_blank" rel="noopener">Melbourne</a>, <a href="https://www.abc.net.au/news/2021-07-22/electric-e-scooter-e-bike-injuries-brisbane-emergency-department/100313526" target="_blank" rel="noopener">Brisbane</a> and <a href="https://www.abc.net.au/news/2022-07-15/warning-issued-to-escooter-riders-in-perth/101242834" target="_blank" rel="noopener">Perth</a> are reporting “daily” presentations with e-scooter related traumas to both riders and pedestrians.</p> <p>Worse, according to media reports at least seven Australians have been killed through falls or collisions since their <a href="https://raine.co/blogs/news/electric-scooter-trials" target="_blank" rel="noopener">introduction in 2018</a>, including a <a href="https://7news.com.au/news/qld/queensland-boy-15-dies-five-days-after-suffering-critical-injuries-in-e-scooter-crash-c-7563230" target="_blank" rel="noopener">15-year-old Queensland boy last week</a>.</p> <p>Although the National Transport Commission <a href="https://www.ntc.gov.au/sites/default/files/assets/files/NTC-Decision-RIS-PMDs.pdf" target="_blank" rel="noopener">recommended</a> in 2020 that e-scooters be limited to a speed of 10 km/hr on footpaths and 25km/hr on roads or bike lanes, most states have allowed higher speeds on footpaths.</p> <p>Many riders also shun the helmet requirement imposed by the e-scooter terms of use and the <a href="https://www.legislation.sa.gov.au/__legislation/lz/c/r/australian%20road%20rules/current/2014.205.auth.pdf" target="_blank" rel="noopener">Australian Road Rules</a>. It therefore seems that more carnage is on the horizon.</p> <p>We need a uniform regulatory framework balancing the risks and benefits of e-scooters, and clarifying avenues for compensation.</p> <h2>Who’s liable for e-scooter injuries?</h2> <p>The <a href="https://pcc.gov.au/uniform/Australian-Road-Rules-10December2021.pdf" target="_blank" rel="noopener">Australian Road Rules</a> empower the states to prohibit e-scooters on public roads and footpaths. Most states have banned them by default, but many local councils have authorised <a href="https://www.vicroads.vic.gov.au/safety-and-road-rules/road-safety-programs/e-scooter-trials-in-victoria" target="_blank" rel="noopener">temporary trials</a>, which are still in effect.</p> <p>Obviously, if you crash due to your own misuse or recklessness, you are personally responsible for your injuries or those you cause to others.</p> <p>But if the accident is caused by a fault with the e-scooter, that might be different. Some of the e-scooter companies, such as Neuron, <a href="https://www.rideneuron.com/terms-of-service/au/" target="_blank" rel="noopener">state that they exclude liability</a> for injury except where it’s caused by their negligence.</p> <p>Where you’ve crashed due to uneven pavement or damaged road, the disrepair will generally need to be known or otherwise significant to prove the local council breached its duty of care to you. You would then seek compensation through the council’s public liability insurer. You would likely have to try to do the same if you trip over a dormant e-scooter that has been dumped in random locations, as they often are.</p> <p>Third parties who are injured by an e-scooter rider are in a difficult position. This is because <a href="https://jade.io/article/67447" target="_blank" rel="noopener">only parties to a contract</a> can incur rights and obligations under the contract. E-scooter contracts are between the user and the respective company, so those who are struck by e-scooters, or trip over a dormant one, have no contractual rights against the company.</p> <p>An injured third party would have to sue the rider directly. But attaining the rider’s personal details could be difficult if they drive off or are evasive, and they will <a href="https://attwoodmarshall.com.au/escooter-laws/" target="_blank" rel="noopener">likely be unable to pay compensation</a>.</p> <p>Complicating matters is the fact minors also ride e-scooters. <a href="https://www.li.me/en-au/user-agreement" target="_blank" rel="noopener">Lime</a> and <a href="https://www.rideneuron.com/terms-of-service/au/" target="_blank" rel="noopener">Neuron</a> forbid minors from using their vehicles, but <a href="https://global-uploads.webflow.com/5b685812f109cf81a7d99e25/61b3143240d08942f78415ce_Terms%20of%20Services%20-%20Beam%20Australia%20(website)%20-%20December%202021.pdf" target="_blank" rel="noopener">Beam</a> allows people under 16 to ride with parental consent. E-scooters are colourful, funky, and marketed in a manner appealing to young and likely inexperienced riders.</p> <p>Each of the e-scooter companies’ terms warn that breaching the terms of use, such as riding as an unauthorised minor, can void insurance entitlements, meaning many unwary parents or caregivers may be left to foot hefty medical and legal bills.</p> <h2>Excluding liability through the fine print</h2> <p>When a user downloads and accesses the relevant app to activate an e-scooter, they agree to the terms of service. <a href="https://jade.io/article/68500" target="_blank" rel="noopener">The law states</a> that you’re bound by the terms you sign (physically or digitally), even if you don’t read them – and <a href="https://www.theguardian.com/technology/2017/mar/03/terms-of-service-online-contracts-fine-print" target="_blank" rel="noopener">most people don’t</a>.</p> <p>Australia’s biggest e-scooter companies – <a href="https://www.li.me/en-au/user-agreement" target="_blank" rel="noopener">Lime</a>, <a href="https://global-uploads.webflow.com/5b685812f109cf81a7d99e25/61b3143240d08942f78415ce_Terms%20of%20Services%20-%20Beam%20Australia%20(website)%20-%20December%202021.pdf" target="_blank" rel="noopener">Beam</a>, and <a href="https://www.rideneuron.com/terms-of-service/au/" target="_blank" rel="noopener">Neuron</a> – all have lengthy user agreements, each containing exclusion clauses. These clauses restrict or exclude the companies’ liability if you’re injured while using them.</p> <p>But are they watertight?</p> <p>It depends on wording. Beam’s agreement, for example, states that the company isn’t liable to users “for any death, disability or personal injury […] howsoever caused” arising directly or indirectly in connection with use of its e-scooters. Such statements, though broad, are <a href="https://jade.io/article/65000" target="_blank" rel="noopener">generally sufficient</a> to exclude negligence liability. The reference to “indirect” injury also implies a user being injured by a third party (such as an errant rider, driver, or pedestrian) would have no recourse against the company.</p> <p>However, the courts <a href="https://www.bailii.org/cgi-bin/format.cgi?doc=/ew/cases/EWCA/Civ/1953/2.html&amp;query=(white)+AND+(v)+AND+(john)+AND+(warwick)" target="_blank" rel="noopener">have also said</a> that where liability can arise on two or more different bases – such as negligence and breach of contract – then you need to use more specific wording in your exclusion clause. Lime, Beam, and Neuron all mention negligence, so they would likely be covered.</p> <h2>Insurance as a panacea?</h2> <p>Compulsory third-party insurance is <a href="https://www.qbe.com/au/news/ctp-explained" target="_blank" rel="noopener">required</a> with motor vehicle registration in Australia. But this isn’t so with e-scooters, as they’re not classified as registrable vehicles. Extending the compulsory third-party insurance scheme to e-scooters might help resolve some of the liability questions that linger.</p> <p>However, the <a href="https://mylicence.sa.gov.au/road-rules/riding_motorised_scooters" target="_blank" rel="noopener">South Australian Government</a> has observed this isn’t possible because e-scooters don’t meet <a href="https://www.infrastructure.gov.au/infrastructure-transport-vehicles/vehicles/vehicle-design-regulation/australian-design-rules" target="_blank" rel="noopener">national standards</a> that govern registrable vehicles.</p> <p>While some home and contents insurance policies may offer some coverage for e-scooter injuries, this hasn’t been tested and young victims almost certainly won’t have this insurance.</p> <p>Workplace insurance might also apply if the accident occurred on the way to, or during, work. Again, this will depend on the relevant policy and whether the rider was obeying all road rules and the e-scooter’s terms of use.</p> <p>If a rider is hit by a car, the driver’s compulsory third party insurance would cover any resulting injury or death.</p> <p>The e-scooter companies have started introducing third party liability insurance schemes which might protect riders from claims brought by, for example, injured pedestrians. However, the policies generally have numerous exclusions, such as where riders breach the terms of use (for example for not wearing a helmet or being underage).</p> <h2>The need for a unified approach</h2> <p>Multiple stakeholders are involved in rental e-scooter arrangements. From a regulatory perspective, state and local governments have a duty to consider and protect all members of the community when they allow and control e-scooter trials. The chosen approach can also impact redress mechanisms for those injured by e-scooters.</p> <p>At the moment, there’s different approaches across Australia. So it’s essential that all levels of government work together to craft a uniform regulatory framework.</p> <p>Additional safety measures can help curb the injury and death count, such as more precise “geofencing” to restrict e-scooters to certain areas and remote deactivation for breach of safety rules. Ensuring only those with a driver’s licence are authorised to ride e-scooters could also help, and this could be implemented by linking e-scooter app sign-up to state government licence databases.</p> <p>In the meantime, law enforcement is critical to ensure riders are riding e-scooters in a safe and legal manner.</p> <p><strong>This article originally appeared on <a href="https://theconversation.com/whos-liable-if-youre-injured-or-killed-riding-an-e-scooter-187436" target="_blank" rel="noopener">The Conversation</a>. </strong></p> <p><em>Image: Shutterstock</em></p>

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Oops! Scientists identify the neurons responsible for learning from mistakes

<p>Have you ever driven past an intersection and registered you should have turned right a street ago, or been in a conversation and, as soon as the words are out of your mouth, realised you really shouldn’t have said that thing you just did?</p> <p>It’s a phenomenon known as performance monitoring; an internal signal produced by the brain that lets you know when you’ve made a mistake.</p> <p>Performance monitoring is a kind of self-generated feedback that’s essential to managing our daily lives. Now, neuroscientists have discovered that signals from <a href="https://cosmosmagazine.com/science/biology/brain-pleasers-the-neurons-that-respond-to-singing/" target="_blank" rel="noreferrer noopener">neurons</a> in the brain’s medial frontal cortex are responsible for it.</p> <p>A <a href="https://www.science.org/doi/10.1126/science.abm9922" target="_blank" rel="noreferrer noopener">new study</a> published in <em>Science</em> reports that these signals are used to give humans the flexibility to learn new tasks and the focus to develop highly specific skills.</p> <p>“Part of the magic of the human brain is that it is so flexible,” says senior author Ueli Rutishauser, professor of Neurosurgery, Neurology, and Biomedical Sciences at Cedars-Sinai Medical Center, US. “We designed our study to decipher how the brain can generalise and specialise at the same time, both of which are critical for helping us pursue a goal.”</p> <p>They found that the performance monitoring signals help improve future attempts of a particular task by passing information to other areas of the brain. They also help the brain adjust its focus by signalling how much conflict or difficulty was encountered during the task.</p> <p>“An ‘Oops!’ moment might prompt someone to pay closer attention the next time they chat with a friend, or plan to stop at the store on the way home from work,” explains first author Zhongzheng Fu, researcher in the Rutishauser Laboratory at Cedars-Sinai.</p> <p>The team recorded the activity of more than 1000 neurons in the medial frontal cortexes of human epilepsy patients (who had existing electrode brain implants to help locate the focus of their seizures) while they performed complex cognitive tasks.</p> <div class="newsletter-box"> <div id="wpcf7-f6-p190553-o1" class="wpcf7" dir="ltr" lang="en-US" role="form"> <form class="wpcf7-form mailchimp-ext-0.5.61 init" action="/science/biology/neurons-performance-monitoring/#wpcf7-f6-p190553-o1" method="post" novalidate="novalidate" data-status="init"> <p style="display: none !important;"><span class="wpcf7-form-control-wrap referer-page"><input class="wpcf7-form-control wpcf7-text referer-page" name="referer-page" type="hidden" value="https://cosmosmagazine.com/health/page/2/" data-value="https://cosmosmagazine.com/health/page/2/" aria-invalid="false" /></span></p> <p><!-- Chimpmail extension by Renzo Johnson --></form> </div> </div> <p>In the first task, called the Stroop task, participants’ reading- and colour naming skills were tested. Viewing the written name of the colour, such as “red”, printed in the ink of a different colour, such as blue, they were asked to name the ink colour rather than the written word.</p> <p>In the second task – the Multi-Source Interference Task (MSIT) – participants were shown three digits on a screen (two the same number and the other unique) and had to press a button associated with the unique number while resisting the tendency to press the other (because it appears twice).</p> <p>The researchers noted that two types of neurons seemed to be at work: “error” neurons fired strongly after a mistake was made, while “conflict” neurons fired in response to the difficulty of the task.</p> <p>“When we observed the activity of neurons in this brain area, it surprised us that most of them only become active after a decision or an action was completed,” says Fu. “This indicates that this brain area plays a role in evaluating decisions after the fact, rather than making them.”</p> <p>Scientists have known for some time that there are two types of performance monitoring: domain general and domain specific.</p> <p>Domain general performance monitoring tells us <em>when</em> something goes wrong, which allows people to perform new tasks with little instruction. Domain specific monitoring tells them <em>what</em> went wrong, and is one way that people perfect individual skills.</p> <p>Previously it was thought that the different neurons responsible for these two forms were located in distinct parts of the brain, but this research has found that they’re actually intermingled in the medial frontal cortex.</p> <p>According to Rutishauser, understanding the mechanisms behind performance monitoring is critical to perfecting the treatment of certain psychiatric disorders in which it is extreme, for example obsessive compulsive disorder (overactive monitoring) and schizophrenia (underactive).</p> <p><!-- Start of tracking content syndication. Please do not remove this section as it allows us to keep track of republished articles --></p> <p><img id="cosmos-post-tracker" style="opacity: 0; height: 1px!important; width: 1px!important; border: 0!important; position: absolute!important; z-index: -1!important;" src="https://syndication.cosmosmagazine.com/?id=190553&title=Oops%21+Scientists+identify+the+neurons+responsible+for+learning+from+mistakes." width="1" height="1" data-spai-target="src" data-spai-orig="" data-spai-exclude="nocdn" /></p> <p><!-- End of tracking content syndication --></p> <div id="contributors"> <p><em><a href="https://cosmosmagazine.com/science/biology/neurons-performance-monitoring/" target="_blank" rel="noopener">This article</a> was originally published on <a href="https://cosmosmagazine.com" target="_blank" rel="noopener">Cosmos Magazine</a> and was written by <a href="https://cosmosmagazine.com/contributor/imma-perfetto" target="_blank" rel="noopener">Imma Perfetto</a>. Imma Perfetto is a science writer at Cosmos. She has a Bachelor of Science with Honours in Science Communication from the University of Adelaide.</em></p> <p><em>Image: Getty Images</em></p> </div>

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New study offers hope to those with motor neurone disease

<p><span style="font-weight: 400;">Motor neurone disease, also called amyotrophic lateral sclerosis (ALS), is a rare condition that slowly kills off nerve cells in the brain and spine, leading to paralysis and eventually death.</span></p> <p><span style="font-weight: 400;">Though currently incurable, </span><a rel="noopener" href="https://academic.oup.com/braincomms/article/3/3/fcab166/6340444" target="_blank"><span style="font-weight: 400;">a new study</span></a><span style="font-weight: 400;"> may have brought us closer to finding one.</span></p> <p><span style="font-weight: 400;">Scientists have taken lab samples of one form of ALS and been able to reverse one of the hallmark biological abnormalities the disease introduces in cells.</span></p> <p><span style="font-weight: 400;">Although this is yet to be applied in other forms of the disease or in human beings, the finding represents a large step forward in understanding how ALS could be combatted, providing some hope that the disease could one day be beaten.</span></p> <p><strong>What the study found</strong></p> <p><span style="font-weight: 400;">The researchers found that three RNA binding proteins, which help regulate RNA, get stuck in the wrong place for most people with ALS.</span></p> <p><span style="font-weight: 400;">Instead of staying in the motor neuron nucleus, they end up in the surrounding cytoplasm.</span></p> <p><span style="font-weight: 400;">The team then found that blocking a particular enzyme, called VCP, was able to reverse this in their human cell samples and return the distribution of RNA binding proteins in the nucleus and cytoplasm back to normal.</span></p> <p><span style="font-weight: 400;">According to the scientists, this suggests that this enzyme becomes mutated and overactive in some cases of ALS.</span></p> <p><span style="font-weight: 400;">“Demonstrating proof-of-concept for how a chemical can reverse one of the key hallmarks of ALS is incredibly exciting,” said Jasmine Harley, a neuroscientist from the Francis Crick Institute in the UK.</span></p> <p><span style="font-weight: 400;">“We showed this worked on three key RNA binding proteins, which is important as it suggests it could work on other disease phenotypes too.”</span></p> <p><span style="font-weight: 400;">The drug they used to inhibit the enzyme is also being tested in cancer trials, which could speed up its development and availability if it is found to help cancer patients and ALS patients.</span></p> <p><span style="font-weight: 400;">In a second study, published in the journal </span><em><a rel="noopener" href="https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awab078/6164957" target="_blank"><span style="font-weight: 400;">Brain</span></a></em><span style="font-weight: 400;">, the same researchers found over 100 types of RNA fragments, called intron-retaining transcripts, which can also move from the nucleus of cells into the cytoplasm in ALS cases.</span></p> <p><span style="font-weight: 400;">The researchers found that these fragments have sequences that bind to the RNA binding proteins, and they suspect these sequences are drawing the proteins out of the nucleus and into the cytoplasm.</span></p> <p><img style="width: 0px; height: 0px;" src="/nothing.jpg" alt="" data-udi="umb://media/1f84fdb6755a48e884e50245585f3db4" /><img style="width: 500px; height: 433.3333333333333px;" src="https://oversixtydev.blob.core.windows.net/media/7843072/gettyimages-1129371731.jpg" alt="" data-udi="umb://media/1f84fdb6755a48e884e50245585f3db4" /></p> <p><em><span style="font-weight: 400;">Image: Getty Images</span></em></p> <p><span style="font-weight: 400;">“To imagine what’s going on here we can consider watching a movie at the cinema,” neuroscientist Jacob Neeves explained.</span></p> <p><span style="font-weight: 400;">“Typically, we don’t expect to see adverts throughout the film, but, if something goes wrong these ads might start cropping up at odd and unexpected points. These retained introns are a little bit like these abnormal ad breaks.”</span></p> <p><strong>Why this matters</strong></p> <p><span style="font-weight: 400;">Though only 1-2 percent of ALS cases have the mutated enzyme the scientists found in the first study, both pieces of research add to our understanding of motor neurone disease.</span></p> <p><span style="font-weight: 400;">This additional information offers new hope that scientists could eventually figure out how to undo some of the damage that the disease causes to the brain and nervous system.</span></p> <p><span style="font-weight: 400;">“More research is needed to investigate this further,” Harley said. “We need to see if this might reverse other pathological hallmarks of ALS and also, in other ALS disease models.”</span></p>

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Why did Stephen Hawking live so long?

<p>Stephen Hawking was just 21 years old when he was told he’d only have two years to live. But it wasn’t until earlier this week that he <strong><span style="text-decoration: underline;"><a href="https://www.oversixty.com.au/news/news/2018/03/stephen-hawking-has-died-aged-76/">died at the age of 76</a></span>.</strong></p> <p>The world-renowned physicist, cosmologist and author of <em>A Brief History of Time</em>, defied incredible odds by living with amyotrophic lateral sclerosis (ALS) for over five decades.</p> <p>The average survival rate for people with the motor-neuron disease is two to five years from the time of diagnosis, making Hawking’s long life a mystery of medicine.</p> <p>Prof Tissa Wijeratne, who leads the neuroscience research unit at Melbourne’s Western Hospital, told <span style="text-decoration: underline;"><strong><a href="http://www.news.com.au/technology/science/space/medical-miracle-stephen-hawking-was-certainly-an-outlier/news-story/14d697c10cfa790b8e5d6f5ba3807471">news.com.au</a> </strong></span>neurology and disorders affecting the brain and nerves is a “fascinating specialty”.</p> <p>“On average many folks with ALS live a few years from the diagnosis,” he said.</p> <p>“There are people who live for a long long time too. This is due to the amazing variability of how this disorder affects different human bodies.”</p> <p>He added: “There are variants of ALS that progress very, very slowly: PMA or progressive muscular atrophy is one such example.”</p> <p>“These patients can live for a long long time.”</p> <p>Leo McCluskey, an associate professor of neurology and medical director of the ALS Center at the University of Pennsylvania, <a href="https://www.scientificamerican.com/article/stephen-hawking-als/"><span style="text-decoration: underline;"><strong>told the Scientific American</strong></span> </a>that life expectancy was down to two things.</p> <p>“The first thing is motor neurons running the diaphragm — the breathing muscles,” he said.</p> <p>“So the common way people die is of respiratory failure. And the other thing is the deterioration of swallowing muscles, and that can lead to malnutrition and dehydration.</p> <p>“If you don’t have these two things, you could potentially live for a long time — even though you’re getting worse.</p> <p>“What happened to him is just astounding. He was certainly an outlier.”</p> <p>Dr. Lucie Bruijn, the ALS Association's chief scientist in the US, said, "We wish we knew because that would give us clues to treatment.”</p> <p> "His lifespan is exceptional. I think there are few — I certainly don't know of any others — that have had such a long lifespan,” he added.</p>

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