Loss aversion: the power of framing in decision-making and why we are susceptible to poor decisions Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Behavioural Economics III 06/11/25, 11:56 Last updated: Published: 15/10/24, 12:18 Loss aversion: the power of framing in decision-making and why we are susceptible to poor decisions This is article no. 3 in a series on behavioural economics. Next article- Libertarian Paternalism . Previous article- The endowment effect . In the realm of decision-making, the way information is presented can dramatically influence the choices people make. This phenomenon, known as framing, plays a pivotal role in how we perceive potential outcomes, especially when it comes to risks and rewards. We shall now explore the groundbreaking work of Tversky and Kahneman, who sought to explain how different framings of identical scenarios could lead to vastly different decisions. By examining their research, we can gain insight into why we are susceptible to making poor decisions and understand the underlying psychological mechanisms that drive our preferences. The power of framing Imagine that the UK is preparing for the outbreak of an unusual disease, which is expected to kill 600 people. Two alternative programs to combat the disease have been proposed. In a paper by Tversky and Kahneman, they examined the importance of how information is conveyed in two different scenarios. In scenario 1: If program A is adopted, 200 people will be saved. If program B is adopted, there is a 1/3 probability that 600 people will be saved and a 2/3 probability that no people will be saved. In scenario 2: If program A is adopted, 400 people will die. If program B is adopted, there is a 1/3 probability that nobody will die and a 2/3 probability that 600 people will die. Notice that both scenarios display the exact same information, but the way in which the information is displayed is different. So surely there should be no difference between the two scenarios? In fact, there is a huge difference. Scenario 2 has been given a loss frame, where the loss frame emphasises the potential negative outcomes. By taking a sidestep, we can examine why this is important. Loss aversion is the phenomenon where ‘losses loom larger gains’. In other words, if we lose something, then the negative impact of this is greater than the positive impact of an equal-sized gain. Image 1 illustrates a loss aversion function. As illustrated in the image, a loss of £100 results in a much larger negative reaction than the positive reaction of a gain of £100. To put this into perspective, imagine it’s your birthday and someone gifts you some money. You would hopefully feel quite grateful and happy, but perhaps this feeling isn’t overwhelming. On the contrary, if you soon discover that you lost your wallet or purse, which contained the same amount of money, the psychological impact is often much more severe. Losses are perceived to be much more significant than gains. Going back to the example involving the two scenarios, we see that in scenario 2, program A emphasises the death of 400 people compared to scenario 2, program B, which has a chance to lose more but also a chance to save everyone. Statistically, you should be indifferent between the two, but because the guaranteed loss of 400 people is so overwhelming, people would much rather gamble and take the chance. This same reason is why gambling is so addictive. When you lose money in a gamble, you feel compelled to not accept the loss and decide to continue betting in an effort to make back what you once had. What Kahneman and Tversky found was that in scenario 1, 72% of people chose program A, and in scenario 2, 78% of people chose program B. Clearly, how we frame a policy makes a huge difference in its popularity. By framing the information by saying “200 people will be saved” rather than “400 people will die” out of the same 600 people, our own perception is considerably different. But on a deeper level, why might this be, and why is knowing this distinction important? In my previous article on the endowment effect, we saw that once you own something, you feel possessive over it, and losing something that you have had to work for, like money, makes you feel as though that hard work has gone to waste. But this explanation struggles to translate into our example of people. In researching for this article, I came across the evolutionary psychology perspective and found it to be both interesting and persuasive. From an evolutionary perspective, loss aversion can be seen as an adaptive trait. For our ancestors, losses such as losing food or shelter could have dire consequences for survival, whereas gains such as finding extra food was certainly beneficial but not as crucial for immediate survival. Therefore, we may be hardwired to avoid any losses, which has translated into modern-day loss aversion. The reason why knowing about this is important comes up in two aspects of life. The first is in healthcare. As demonstrated at the beginning of the article, people’s decisions can be impacted by the way in which healthcare professionals and the government frame policies. By understanding this, it allows you to make your own decision on the risks and determine whether you believe it is right for you. Similarly, policymakers can shape public opinion by highlighting the benefits or costs of action or inaction such that it meets their own political agenda. So recognising loss aversion allows for more informed decision-making. Additionally, when it comes to the world of investing, people tend to keep hold of an investment that is performing badly or perhaps at a loss in the hopes that it will go back up in the future. If this belief is justified through analysis or good judgement, then deciding to hold may be a good decision; however, often loss aversion creates a false sense of hope similar to the example I gave for gambling. If you are a keen investor, it’s important to be aware of your own investment psychology so that it allows you to maintain an objective view of a company throughout the time you decide to remain invested. Evidently, understanding how we think and make decisions can play an important role in improving the choices we make in our personal and professional lives. By recognising the impact of loss aversion and framing, we can become more aware of the unconscious biases that drive us to avoid losses at all costs, even when those decisions may not be in our best interest. Whether it’s in healthcare, investing, or everyday life, cultivating this awareness allows for more rational, informed choices that better align with long-term goals rather than short-term fears. In a world where information is constantly framed to sway public opinion, knowing the psychology behind our decision-making processes is a powerful tool that can help us make wiser, more deliberate decisions. Written by George Chant REFERENCES Tversky A, Kahneman D. The framing of decisions and the psychology of choice. Science. 1981 Jan 30;211(4481):453-8. doi: 10.1126/science.7455683. PMID: 7455683. Image provided by Economicshelp.org , a link to the website: https://www.economicshelp.org/blog/glossary/loss-aversion/ Project Gallery

A Scientia News Biology collaboration Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Artificial intelligence: the good, the bad, and the future 20/03/25, 12:01 Last updated: Published: 13/12/23, 17:10 A Scientia News Biology collaboration Introduction Artificial intelligence (AI) shows great promise in education and research, providing flexibility, curriculum improvements, and knowledge gains for students. However, concerns remain about its impact on critical thinking and long-term learning. For researchers, AI accelerates data processing but may reduce originality and replace human roles. This article explores the debates around AI in academia, underscoring the need for guidelines to harness its potential while mitigating risks. Benefits of AI for students and researchers Students Within education, AI has created a buzz for its usefulness in aiding students to complete daily and complex tasks. Specifically, students have utilised this technology to enhance their decision making process, improve workflow and have a more personalised learning experience. A study by Krive et al. (2023) demonstrated this by having medical students take an elective module to learn about using AI to enhance their learning and understand its benefits in healthcare. Traditionally, medical studies have been inflexible, with difficulty integrating pre-clinical theory and clinical application. The module created by Krive et al. introduced a curriculum with assignments featuring online clinical simulations to apply preclinical theory to patient safety. Students scored a 97% average on knowledge exams and 89% on practical exams, showing AI's benefits for flexible, efficient learning. Thus, AI is able to assist in enhancing student learning experiences whilst saving time and providing flexibility. Additionally, we gathered testimonials from current STEM graduates and students to better understand the implications of AI. In Figure 1 , we can see that the students use AI to benefit their exam learning, get to grips with difficult topics, and summarise long texts to save time whilst exercising caution, knowing that AI has limitations. This shows that AI has the potential to become a personalised learning assistant to improve comprehension and retention and organise thoughts, all of which allow students to enhance skills through support as opposed to reliance on the software. Despite the mainstream uptake of AI, one student has chosen not to use AI in the worry of becoming less self-sufficient, and we will explore this dynamic in the next section. Researchers AI can be very useful for academic researchers, such as making the process of writing and editing papers based on new scientific discoveries less slow or even facilitating it altogether. As a result, society may have innovative ways to treat diseases and increase the current knowledge of different academic disciplines. Also, AI can be used for data analysis by interpreting a lot of information, and this not only saves time but a lot of money required to complete this process accurately. The statistics and graphical findings could be used to influence public policy or help different businesses achieve their objectives. Another quality of AI is that it can be tailored towards the researcher's needs in any field, from STEM to subject areas outside of it, indicating that AI’s utilities are endless. For academic fields requiring researchers to look at things in greater detail, like molecular biology or immunology, AI can help generate models to understand the molecules and cells involved in such mechanisms sufficiently. This can be through genome analysis and possibly next generation sequencing. Within education, researchers working as lecturers can utilise AI to deliver concepts and ideas to students and even make the marking process more robust. In turn, this can decrease the burnout educators experience in their daily working lives and may possibly help establish a work-life balance, as a way to feel more at ease over the long-term. Risks of AI for students and researchers Students With great power comes great responsibility, and with the advent of AI in school and learning, there is increasing concern on the quality of learners produced from schools, and if their attitude to learning and critical thinking skills are hindered or lacking. This matter has been echoed in results from a study conducted by Ahmad et al. (2023), which studied how AI affects laziness and distorts decision making in university students. The results showed using AI in education correlated with 68.9% of laziness and a 27.7% loss in decision making abilities in 285 students across Pakistani and Chinese institutes. This confirms some worries that a former testimonial shared with us in figure 1 and suggests that students may become more passive learners rather than develop key life skills. This may even lead to reluctance to learn new things and seeking out ‘the easy way’ rather than enjoy obtaining new facts. Researchers Although AI can be great for researchers, it carries its own disadvantages. For example, it could lead to reduced originality while writing, and this type of misconduct jeopardises the reputation of the people working in research. Also, the software is only as effective as the type of data they are specialised in, so specific AI could misinterpret the data. This has downstream consequences that can affect how research institutions are run, and beyond that, scientific inquiry is hindered. Therefore, if severely misused, AI can undermine the integrity of academic research, which could hinder the discovery of life-saving therapies. Furthermore, there is the potential for AI to replace researchers, suggesting that there may be fewer opportunities to employ aspiring scientists. When given insufficient information, AI can be biased, which can be detrimental; an article found that its use in a dermatology clinic can put certain patients at risk of skin cancer and suggested that it receives more diverse demographic data for AI to work effectively. Thus, it needs to be applicable in a strategic way to ensure it works as intended and does not cause harm. Conclusion Considering the uses of AI for students and researchers, it is advantageous to them by supporting any knowledge gaps, aiding in data analysis, boosting general productivity and can be used to engage with the public and much more. Its possibilities for enhancing industries such as education and drug development are endless for propagating societal progression. Nevertheless, the drawbacks of AI cannot be ignored, like the chance of it replacing people in jobs or that it is not completely accurate. Therefore, guidelines must be defined for its use as a tool to ensure a healthy relationship between AI and students and researchers. According to the European Network of Academic Integrity (ENAI), using AI for proofreading, spell checking, and as a thesaurus is admissible. However, it should not be listed as a co-author because, compared to people, it is not liable for any reported findings. As such, depending on how AI is used, it can be a tool to help society or be detrimental, so it is not inherently good or bad for students, researchers and society in general. Written by Sam Jarada and Irha Khalid Introduction, and 'Student' arguments by Irha Conclusion, and 'Researcher' arguments by Sam Related articles: Evolution of AI / AI in agriculture and rural farming / Can a human brain be uploaded to a computer? Project Gallery

Aggression has the confluence of individual predisposition and maintenance via social context Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Unmasking aggression: a result of personal or social triggers? 14/07/25, 16:10 Last updated: Published: 01/01/25, 14:02 Aggression has the confluence of individual predisposition and maintenance via social context Introduction Anderson & Bushman (2002) define aggression as behaviour aimed at causing harm to another individual. Aggression can be measured by observing a signal of intention or aggression rating by self or others. The social theories of aggression include Dollard's frustration-aggression theory and Bandura's Social Learning Theory, while the individual factors theories account for personality traits and the influence of alcohol. However, there is no definite answer to whether social or individual factors are most important in explaining human behaviour. The interaction between social and individual factors will be explored to gain a deeper understanding of aggression. Social theories The frustration-aggression hypothesis proposed by Dollard et al. (1939) defines frustration as the emotion that follows when the occurrence of an instigated goal-response is interfered with, in turn leading to anger and aggression. According to this hypothesis, a person’s aggressive tendencies will be more intense the closer the individual is to achieving a goal before an obstacle appears. Many support this hypothesis, including Dill and Anderson (1995), who found that levels of aggression resulting from unjustified frustration were higher than justified frustration because they were caused by situational constraints rather than dispositional qualities. However, Berkowitz (1989) criticises Dollard et al.'s hypothesis, saying that frustration can only produce aggressive behaviour if it causes adverse effects. Due to the wide variety of negative and positive effects of frustration, it is important to revisit and clarify the frustration-aggression hypothesis. Additionally, aggression is often explained by the Social Learning Theory (SLT), proposed by Bandura et al. (1963), which states that aggressive behaviour is a learned behaviour reinforced by imitation and rewards or punishment. Bandura conducted the renowned Bobo Doll Study in 1961, in which children mimicked adult behaviour and attacked the doll after watching the researchers physically and verbally abuse a clown-faced inflatable toy in front of them, making this study extremely influential in understanding the role that families and household dynamics play in human behaviour. Based on this theory, exposure to TV violence can teach aggressive conduct and provide a model of behaviour to base actions upon. In SLT, rather than frustration generating an aggressive drive that can only be reduced by injurious behaviour, aversive stimulation creates general emotional arousal that can result in aggressive behaviour. Therefore, social theories encompass a broad range of disinhibitory factors and provide a broad theory explaining both impulsive and principled aggressive conduct. Individual factors theories Individual differences and variables, like personality traits, have also contributed to the study of aggressive behaviour. Hyatt et al. (2019) stated that certain personality traits such as narcissism and sadism have been meta-analytically linked to aggression shown in a lab setting. The lab paradigm captures aggression as it manifests whilst controlling for confounding variables, such as different types of aggression. However, the lab paradigm lacks construct validity because researchers don’t interpret the subjects’ intentions and motives when operationalising aggression. Further evaluation comes from Bettencourt et al. (2006), who meta-analysed personality dimensions and stated that provocation can cause aggression. They note that individuals with Type A personalities often exhibit impulsivity and emotional reactivity, which are positively associated with aggression. Thus, situational circumstances such as provocation and aggressive cues interact with these personality factors, together shaping the likelihood and intensity of aggressive behaviour. Additionally, the interplay between personality and alcohol can explain aggression. Alcohol reduces inhibitions that regulate 'normal' behaviour and increases aggression. Miller et al. (2009) concluded that alcohol may facilitate aggression in high-trait individuals specifically, those who score high on traits associated with aggression, such as impulsivity, hostility, or a predisposition toward anger—by impairing the drinker’s inhibition. Moreover, further research indicates a strong relationship between alcohol consumption and antisocial personality. Therefore, any discussion of personal factors and personality in aggression would be incomplete without considering the influence of alcohol. The interplay between social and individual trait theories Allen et al. (2018) created a model that encompasses both the social and the individual trait theories. The General Aggression Model (GAM) considers social, biological, and individual factors in aggression. This model consists of three stages: input, appraisal, and action. The input stage determines the likelihood of personal and situational factors causing aggression. For instance, individual differences, such as personality, social rejection, and provocation, are identified as risk factors for aggression. During the appraisal stage, the individual decides how to respond. Their response can be aggressive or non-aggressive, depending on the resources, time, and event. The action then influences the social encounter, which can alter personal and situational factors, leading to those factors restarting the cycle. Hence, this model proposes that individuals learn situations that lead to aggressive outcomes. To reduce aggression and offer treatment, the GAM has been applied to intergroup violence and therefore can be applied to a wide range of situations in real life. Conclusion In conclusion, aggression has the confluence of individual predisposition and maintenance via social context. For instance, as discussed previously, socialisation experiences may contribute to aggressive behaviour in individuals with certain personality traits. Thus, it is difficult to distinguish social and individual factors when explaining aggression, as most human behaviour is a multifaceted phenomenon with multiple determinants. Therefore, future research should be more holistic in the explanations of aggression, encompassing both social and individual factors. Written by Pranavi Rastogi Related articles: Emotional chemistry / Psychology of embarrassment / Brain of a bully REFERENCES Allen, J. J., Anderson, C. A., & Bushman, B. J. (2018). The general aggression model. Current Opinion in Psychology,19 , 75-80. doi:10.1016/j.copsyc.2017.03.034 Anderson, C. A., & Bushman, B. J. (2002). Human aggression. Annual Review of Psychology, 53 (1), 27-51. doi:10.1146/annurev.psych.53.100901.135231 Bandura, A., Ross, D., & Ross, S. A. (1963). Imitation of film-mediated aggressive models. Journal of Abnormal and Social Psychology, 66, 3-11 Berkowitz, L. (1989). Frustration-aggression hypothesis: Examination and reformulation. Psychological Bulletin, 106 (1), 59-73. doi:10.1037/0033-2909.106.1.59 Bettencourt, B.A. et al. (2006) ‘Personality and aggressive behavior under provoking and neutral conditions: A meta-analytic review.’, Psychological Bulletin , 132(5), pp. 751–777. doi:10.1037/0033-2909.132.5.751. Dill, J. C., & Anderson, C. A. (1995). Effects of frustration justification on hostile aggression. Aggressive Behavior, 21 (5), 359-369. doi:10.1002/1098-2337(1995)21:5<359::aid-ab2480210505> 3.0.co ;2-6 Dollard, J., Miller, N. E., Doob, L. W., Mowrer, O. H., & Sears, R. R. (1939). Frustration and aggression. doi:10.1037/10022-000 Hyatt, C. S., Chester, D. S., Zeichner, A., & Miller, J. D. (2019). Analytic flexibility in laboratory aggression paradigms: Relations with personality traits vary (slightly) by operationalization of Aggression. Aggressive Behavior, 45 (4), 377-388. doi:10.1002/ab.21830 Miller, C.A., Parrott, D.J. and Giancola, P.R. (2009) ‘Agreeableness and -related aggression: The mediating effect of trait aggressivity.’, Experimental and Clinical Psychopharmacology , 17(6), pp. 445–455. doi:10.1037/a0017727. Project Gallery

Pioneering progress in biomaterials, imaging and cancer therapeutics, and cancer-cell surfaces Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Women Leading the Charge in Biomedical Engineering 14/07/25, 16:19 Last updated: Published: 22/03/24, 18:21 Pioneering progress in biomaterials, imaging and cancer therapeutics, and cancer-cell surfaces In collaboration with Kameron's Lab for International Women's Month I was launched into the world of biomedical engineering by following my dreams. I met Dr. Ayanna Howard, an American roboticist and entrepreneur, and after hearing about my aspirations to become a surgeon but also loving robotics, she suggested the subject to me. Biomedical engineering is like a new dawn, seamlessly blending medicine, technology and engineering. It is a dawn that is illuminated by the brilliant dedication of the women who lead and innovate in the field. In a male-dominated industry like engineering, it is refreshing to see that the discipline of biomedical engineering constitutes of 40% women. This article celebrates the women who are redefining the boundaries of this interdisciplinary field. Changing lives with their discoveries, contributions and innovations. By sharing their stories, I aim to not only highlight the importance of diversity and representation in STEM but also to encourage more women to pursue their passions. Women leading biomedical innovation Speaking of women who are pioneering progress in biomedical engineering, this section highlights three of those women. Professor Elizabeth Tanner, Dr. Nimmi Ramanujam and Dr. Carcia Carson. Of course, this list is nowhere near exhaustive of the amazing contributions women have made to this field. I highly encourage you to learn more about the others who are forging a path for us all.... Professor Elizabeth Tanner, OBE, FREng, FRSE, PhD (Hon Caus), MA, DPhil, FIMMM, FIMechE, FIPEM, CEng, CSci Meeting Professor Tanner was like meeting a force to be reckoned with. In fact, I heard her name and about her contributions long before having the chance to meet her as a SEMS student ambassador. Professor Tanner is renowned for her work in biomaterials for bone and joint replacement. She is the Bonfield Professor of Biomedical Materials, Director of the Centre for Sustainable Engineering and the Director of the Institute of Bioengineering at Queen Mary University of London. Her significant contribution to developing HAPEX (hydroxyapatite polyethylene), the first of the bioactive composites used in patients, illustrates her commitment to blending scientific rigor with practical healthcare solutions. She left Queen Mary in 2007 to join the University of Glasgow where she started their Biomedical Engineering degree. This was the first in Scotland and she continued her research on bioactive composite materials there. Returning to Queen Mary in 2018, she has influenced countless students, including myself as my professor. She imparts not only knowledge in her lessons but also her passion. If you ever study biomedical engineering at Queen Mary, you can look forward to her engaging lecture on gait. Dr. Nimmi Ramanujam As a distinguished Professor of Biomedical Engineering and the Director of the Centre for Global Women’s Health Technologies, Dr. Ramanujam’s work represents meaningful innovation. Her work focuses on developing imaging and therapeutic tools for cancer, especially in women’s help. It is truly transforming the approach to cancer care and goes beyond the lab. She has made several global initiatives that aim to make a long lasting impact on health and education. One of the most well known is the Women Inspired Strategies for Health (WISH). Carcia Carson, PhD Dr. Carcia Carson is an inspiration for young black women in engineering. She hold the historic achievement of the first Black woman to earn a Ph.D. in Biomedical Engineering at Vanderbilt University. Her success and journey exemplify the steps being made towards diversity and representation in STEM fields. She was introduced to medical physics through her studies at Fisk University. After her Ph.D, her professional research will center around developing translational research in cancer vaccines and personalised immunotherapy. Her research focuses on engineering cancer-cell surfaces with surface-conjugated nanomaterial drug carries to enhance immunogenicity of whole cell-based cancer vaccines. To break it down a bit, cell-surface conjugation permits co-localised delivery of both tumor antigens and immune-stimulatory adjuvants. She notes that while studying she ‘didn’t see anybody that looked like’ her. With this being the experience for many woman of colour in STEM, the need for representation and diversity remains imperative. The importance of representation With biomedical engineering progressing every day, the significance of representation cannot be overstated. Diversity in the field is not just about fairness and equity, it is about ensuring that the innovation includes people from a wide range of backgrounds. This way, problems are being solved for a multitude of cultures and needs, not just a cookie cutter solution. The 40% of women in biomedical engineering are more than a statistic, they are a testament to the rich and varied perspectives in this critical field. It is wonderful to see. Representation is profoundly important for several reasons, especially in healthcare. For example, the speculum has remained the same for over 150 years. This cold, uncomfortable device is used for the screening of cervical cancer. Until recently, it has remained untouched and led to women being put off the test entirely. In the UK, nearly 98% of cases are classed as preventable. Women bring valuable insights into women’s health issues through advocation, and creating inclusive healthcare solutions. A diverse workforce challenges the status quo and leads to novel approaches and thinking. Furthermore, the presence of women in leadership roles within biomedical engineering catalyses change and creates opportunities for the next generation. Young girls are more likely to pursue careers ins STEM if they see other women succeeding in them. This representation builds a pipeline of talent that is crucial for the sustained growth and evolution of biomedical engineering. The power of mentorship Outside of representation, the transformative power of mentorship is so important. Having a mentor is like the difference between navigating in the dark and having someone hold your hand with a comforting light. This mentorship can take a variety of forms: formal mentorship programs (sometimes provided by a university), organic relationships with friends and family and even virtually. A pivotal moment in my career was meeting my mentor, Dr. Carika Weldon. She was the first black Bermudian woman I met who was doing genetic research. But not only doing it, she was coming back home to share her success and giving back to the community. Conclusion Women’s invaluable contributions to biomedical engineering have made it clear that their involvement has been nothing short of transformative. Professor Elizabeth Tanner, Dr. Nimmi Ramanujam and Dr. Carcia Carson have had inspiring journeys of not only professional success but also in moving the field towards more diversity and inclusion. From launching the first biomedical engineering course in Scotland, to being the first black woman to hold a Ph.D in the field. These inspiring women serve as role models to us all. It is inspiring stories like theirs that we need as students with a passion for STEM. But many students find themselves unable to find mentors or someone in the STEM community to speak with. To learn from and to be inspired by. This is the reason that I launched my podcast, Kameron’s Lab| Dive In. I hope that it will be a platform for students to learn from the experts in the fields they aspire to be a part of. I remember only meeting a successful black woman in genetics when I was 16 years old. Students deserve to see people like them who are successful in the fields they love. My podcast aims to introduce them early by creating a library of professionals. Or as I like to call them, the Jedi Masters of STEM. Going back to the amazing women in biomedical engineering, their increasing presence is a sign of progress. But of course, more work needs to be done. We need to make sure that women not only enter this field, and other engineering fields, but also thrive and ascend to leadership positions. Only in these roles can they make the most significant change and shape the future of healthcare and technology. This narrative serves as not only a celebration of achievements, but also a call to action. To all aspiring female engineers, and scientists, it’s a showcase of possibilities and encouragement. To educators and industry leaders, it’s a reminder of the importance and benefits of a diverse workforce. As we continue to celebrate and support the achievements of women in this field, we are also moving closer to a future where the potential of every individual can be nurtured and realized for the benefit of all. Written by Kameron Young -- Scientia News wholeheartedly thanks Kameron Young , Founder of Kameron's Lab, for this interesting article on the pioneering individuals in the field of biomedical engineering. We hope you enjoyed reading this International Women's Month Special piece! Follow @Kamerons_Lab on Instagram and @Kameron Young on Linkedin for more information. -- Check out the amazing work Kameron does and follow her social pages for latest content! -- Read more about the inspiring women mentioned in the article: Professor Elizabeth Dr. Nimmi Dr. Carcia -- Related articles: Female Nobel prize winners in physics and in chemistry / African-American women in cancer research / The foremothers in gynaecology / Sisterhood in STEM REFERENCES Khan M. The success of women in Biomedical Engineering [Internet]. MedTech Foundation. 2023. Available from: https://www.medtechfoundation.org/post/the- success-of-women-in-biomedical-engineering Prof Elizabeth Tanner [Internet]. QMUL School of Engineering and Materials Science. Available from: https://www.sems.qmul.ac.uk/staff/k.e.tanner Young Lady bags PhD in Biomedical Engineering, sets record as the first-ever black person to achieve it in US university | Scholarship Region [Internet]. 2023. Available from: https://www.scholarshipregion.com/young-lady-bags-phd-in-biomedical-engineering-sets-record-as-the-first-ever-black-person-to-achieve-it-in-us-university/ Carcia Carson [Internet]. Fisk-Vanderbilt Master’s-to-PhD Bridge Program. Available from: https://www.fisk-vanderbilt-bridge.org/carcia-carson How enduring use of 150-year-old speculum puts women off smear tests [Internet]. The Independent. 2022. Available from: https://www.independent.co.uk/life- style/women/speculum-use-smear-tests-pain-sexism-b2105111.html Project Gallery

Total solar eclipses Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Totality- Our Perfect Eclipse 14/07/25, 16:05 Last updated: Published: 24/05/23, 11:05 Total solar eclipses We are all familiar with the characteristic depiction of a solar eclipse, when the Moon passes directly between the Sun and the Earth. However, the significance of solar eclipses extends far beyond their aesthetic appeal. Major scientific discoveries, cultural practices, and even the behaviour of wild animals are derived from total solar eclipses that we have the privilege of experiencing (See image 1). A solar eclipse occurs when the Earth, Moon, and Sun all appear to lie on a straight line. They are collinear. Total solar eclipses occur when the Moon completely obscures the Sun's photosphere, enabling prominences and coronal filaments to be seen along the limb. This phenomenon is unique to the Earth, Sun, and Moon system and to understand why we must explore the mathematics underlying these ‘orbital gymnastics’. We wish to compare the ‘apparent’ size of the Sun and Moon, a quantity proportional to the ratio of their size and distance from Earth. The Moon has a radius of around 3,400 km, and is approximately 384,000 km from Earth. The Sun has a much larger radius of 1.4 million km, and is located at a distance of 150 million km. By dividing the Sun's radius by the Moon's radius and dividing the Earth-Sun distance by the Earth-Moon distance, we can determine that the Sun is 400 times larger than the Moon and 400 times further away. This unique relationship allows for total solar eclipses, where totality indicates **the complete blocking of sunlight from the Sun’s disk by the Moon. In partial eclipses, only part of the Sun is obscured. One might wonder why we don’t have total solar eclipses every month, and the reason is that the plane of the Moon’s orbit around Earth is tilted at 5 degrees relative to Earth’s orbital plane. This hugely decreases the likelihood of such perfect alignment. Of the hundreds of moons orbiting planets in our Solar System, only our Moon totally eclipses the Sun. For example, none of Jupiter’s 95 moons have the correct size and orbital separation that completely block out the Sun from any point on Jupiter’s surface! Surely this serendipitous interplay of Earth, Sun, and Moon cannot be a coincidence? (See image 2) It is at this point where divine intervention is typically invoked. There are a few problems with doing this. The Moon's eccentric orbit around Earth means that it will be closer during some total solar eclipses than others, resulting in annular eclipses when the Moon is furthest from Earth. Additionally, the Moon is receding from the Earth at a rate of 4 cm/year, which means that total solar eclipses will only be observable for another 250 million years. (See image 3) For those of you who wish to make the most of this brief window of opportunity, this website shows the dates and locations of upcoming total solar eclipses. Written by Joseph Brennan REFERENCE Guillermo Gonzalez, Wonderful eclipses, Astronomy & Geophysics , Volume 40, Issue 3, June 1999, Pages 3.18–3.20, https://doi.org/10.1093/astrog/40.3.3.18 Project Gallery

Mortality trends, mechanisms, and future strategies Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Illuminating Thyroid Cancer 09/07/25, 15:22 Last updated: Published: 23/06/24, 10:24 Mortality trends, mechanisms, and future strategies Introduction The thyroid gland is situated at the front of the neck, below the larynx and it is butterfly-shaped with two lobes located on either side of the trachea. The thyroid gland produces hormones such as thyroid hormone and calcitonin, which are necessary for regulating metabolism in the body. The thyroid hormone is responsible for regulating the human body's metabolic rate, growth, and development. It plays an important role in controlling heart, muscle and digestive function, brain development and bone maintenance. Calcitonin produced by the thyroid gland helps the body control calcium balance. Here in this short article, we discuss and understand the molecular mechanisms, mortality trends, and future strategies for improving diagnosis, treatment, and prevention of thyroid cancer. What is thyroid cancer? Thyroid cancer occurs due to the abnormal growth of cells in the thyroid gland. Over the past few years, the number of thyroid cancers has been continuously increasing, and it has become a topic of growing concern in both medical society and the general public. Understanding the severity of thyroid cancer is important for individuals affected by the disease, as well as for researchers, scientists, and healthcare professionals. Thyroid cancer occurs in both men and women, and it is most common in women between the ages of 30 and 60. Most cases of thyroid cancer occur without risk factors, although a few have inherited forms of thyroid cancer. After the removal of cancer or tumour cells, thyroid cancer is grouped by the appearance of the tumour cells on biopsy. The most common types of thyroid cancers are well-differentiated thyroid cancers, where the cells keep essential characteristics of normal thyroid cells when they become malicious and they can be further classified as papillary thyroid cancer, and follicular thyroid cancer. The other less common types of thyroid cancer are medullary thyroid carcinoma, poorly differentiated thyroid carcinoma, and anaplastic thyroid carcinoma, which is most difficult to treat. Understanding thyroid cancer molecular mechanisms Thyroid cancer, a complicated disease, is caused by several molecular pathways that contribute to its onset and progression. Thyroid cancer develops mostly in the thyroid gland, which regulates metabolism and growth. Several genetic abnormalities within this gland play an important role in the initiation and progression of malignant cells. The BRAF gene is important in thyroid cancer because alterations, particularly the BRAF V600E variant, are usually associated with disease development and progression, particularly in papillary thyroid carcinoma (PTC). This mutation causes the MAPK signalling pathway to be activated indefinitely, resulting in uncontrolled cell proliferation. As a result, BRAF-mutated thyroid tumours frequently exhibit aggressive behaviour and a poor prognosis, providing problems for traditional treatments. Understanding the involvement of the BRAF gene allows for the creation of targeted medicines that selectively inhibit the aberrant signalling pathways induced by BRAF mutations, presenting intriguing paths for improved treatment outcomes. Furthermore, BRAF mutations serve as important biomarkers for identifying patients who may benefit from targeted medicines, allowing personalised therapy methods customised to specific genetic profiles in thyroid cancer management. The BRAF V600E mutant, which is typically seen in papillary thyroid carcinoma (PTC), the most prevalent subtype of thyroid cancer, is one of the most extensively researched genetic variants in thyroid cancer. This mutation activates the MAPK signalling pathway, which drives excessive cell growth and proliferation. Understanding the specific genetic abnormalities found in thyroid cancer can provide vital information about the disease's underlying causes. Furthermore, mutations in the RET gene are linked to medullary thyroid carcinoma (MTC), another kind of thyroid cancer. These mutations cause the RET tyrosine kinase receptor to be constitutively activated, resulting in aberrant cell proliferation and tumour formation. By understanding the impact of genetic abnormalities in thyroid cancer, researchers can identify possible therapeutic targets and create more effective treatment techniques. Unveiling thyroid cancer mortality trends Analysing mortality rates in thyroid cancer provides valuable insights into the disease's influence on public health and healthcare systems. While average mortality rates have decreased over time, various demographic groups continue to face discrepancies in survival rates. Age, gender, and financial position are important factors in determining prognosis and access to care. For example, older persons may have worse results due to comorbidities and delays in identification and treatment. Similarly, those from poorer socioeconomic origins may experience challenges in getting healthcare services, resulting in differences in survival rates. By recognising these discrepancies and understanding the underlying causes, healthcare practitioners and governments can design focused initiatives to improve outcomes for all thyroid cancer patients. The expected increase in thyroid cancer mortality rates in the United Kingdom from around 480 deaths per year in 2023-2025 to around 640 deaths per year in 2038-2040 is a troubling trend. Mortality rates are predicted to climb by 6% overall throughout this time, reaching one death per 100,000 people per year by 2038-2040. This increase is mostly driven by a projected 10% increase in female mortality rates, with rates reaching one death per 100,000 by 2038-2040. In contrast, male mortality rates are expected to fall somewhat, by less than 1%, reaching one death per 100,000 people per year by 2038-2040. These forecasts highlight the need for ongoing research, preventive, and treatment initiatives to meet the rising burden of thyroid cancer mortality. The expected increase in thyroid cancer mortality rates in the United Kingdom from around 480 deaths per year in 2023-2025 to around 640 deaths per year in 2038-2040 is a troubling trend. Mortality rates are predicted to climb by 6% overall throughout this time, reaching one death per 100,000 people per year by 2038-2040. This increase is mostly driven by a projected 10% increase in female mortality rates, with rates reaching one death per 100,000 by 2038-2040. In contrast, male mortality rates are expected to fall somewhat, by less than 1%, reaching one death per 100,000 people per year by 2038-2040. These forecasts highlight the need for ongoing research, preventive, and treatment initiatives to meet the rising burden of thyroid cancer mortality. Intersections and insights The interaction of molecular mechanisms and mortality trends provides crucial information about thyroid cancer biology and therapeutic therapy. For example, studies on radiation-induced thyroid cancer emphasise the long-term effects of environmental exposures on disease risk. According to studies, being exposed to ionising radiation, whether from medical treatments or nuclear accidents, increases the risk of acquiring thyroid cancer later in life. Furthermore, combining genomic research findings with epidemiological data improves our understanding of illness aetiology and influences public health measures. Identifying patients at high risk of getting thyroid cancer allows healthcare providers to adopt focused screening programmes and preventive measures to discover the disease at an early stage when treatment is most successful. Strategies for the future Future thyroid cancer management strategies include precision medicine, immunotherapy, and public health initiatives. These approaches have great opportunities for improving patient outcomes and lowering the impact of thyroid cancer on individuals and healthcare systems. Precision Medicine entails adjusting treatment procedures based on individual genetic profiles, resulting in more targeted and effective medications. Understanding the exact genetic abnormalities that cause thyroid cancer in each patient allows clinicians to select treatments that are most likely to be beneficial while minimising side effects. Targeted medicines, such as tyrosine kinase inhibitors, have shown promise in treating advanced thyroid cancer with specific genetic abnormalities. Furthermore, advances in molecular diagnostics, like next-generation sequencing, allow for more extensive profiling of tumour genomes, allowing doctors to pinpoint possible therapy targets with higher precision. For example, in a groundbreaking clinical trial, researchers assessed the efficacy of vemurafenib, a BRAF inhibitor, in patients with BRAF-mutated thyroid cancer. The research included a cohort of patients with advanced thyroid cancer who carried the BRAF V600E mutation, a common genetic change associated with aggressive tumour behaviour and a worse prognosis. Treatment with vemurafenib produced outstanding results, with a considerable proportion of patients having tumour reduction and improved progression-free survival. This personalised strategy, which targets the exact genetic aberration causing the cancer, demonstrates the power of precision medicine in oncology. Furthermore, advances in next-generation sequencing technologies have aided in the detection of such genetic abnormalities in thyroid tumours, allowing oncologists to tailor treatment plans to specific patients' genetic profiles. A new era in personalised cancer care can be brought about by physicians utilising precision medicine to maximise therapeutic success while minimising side effects. Immunotherapy is a breakthrough method of cancer treatment that uses the immune system to recognise and eliminate cancer cells. Immune checkpoint inhibitors, such as pembrolizumab and nivolumab, have demonstrated extraordinary success in treating a variety of malignancies, including advanced thyroid carcinoma. These medications operate by disrupting inhibitory signals that cancer cells employ to avoid detection by the immune system, boosting the body's natural ability to fight the disease. While immunotherapy has shown promise in some individuals, more research is needed to uncover biomarkers that might predict treatment response and to develop combination medicines that improve efficacy while also overcoming resistance. Case study articles: 1) The Phase 2 KEYNOTE-158 trial examined the effectiveness and safety of pembrolizumab monotherapy in patients with advanced thyroid cancer and found positive results. Pembrolizumab indicated remarkable efficacy, particularly in patients who had received many prior treatments, with large objective response rates and long-lasting responses. Furthermore, the medication demonstrated improved progression-free survival and overall survival rates. Importantly, pembrolizumab had a manageable safety profile, with treatment-related side events often mild to moderate. These data demonstrate pembrolizumab's potential as a significant treatment choice for advanced thyroid cancer, providing hope to patients who have exhausted traditional medications. Article: Oh, Y., Algazi, A., Capdevila, J., Longo, F., Miller, W., Chun Bing, J. T., Bonilla, C. E., Chung, H. C., Guren, T. K., Lin, C., Motola-Kuba, D., Shah, M., Hadoux, J., Yao, L., Jin, F., Norwood, K., & Lebellec, L. (2023). Efficacy and safety of pembrolizumab monotherapy in patients with advanced thyroid cancer in the phase 2 KEYNOTE-158 study. Cancer , 129 (8), 1195-1204. 2) The efficacy and safety evidence for the combination of lenvatinib and pembrolizumab in anaplastic thyroid cancer is based on complementary mechanisms of action and encouraging preclinical and clinical data. Lenvatinib, a multi-kinase inhibitor, targets numerous pathways involved in tumour growth and angiogenesis, whereas pembrolizumab, an immune checkpoint inhibitor, boosts anti-tumour immunity by inhibiting the PD-1 pathway. In animal models of anaplastic thyroid carcinoma, preclinical studies have shown that combining lenvatinib and pembrolizumab has synergistic effects, resulting in increased tumour regression and prolonged survival. Clinical trials of this combination therapy have yielded promising results, with high response rates and prolonged survival found in patients with advanced anaplastic thyroid carcinoma, a disease with a traditionally dismal prognosis and few therapeutic alternatives. Article: Boudin, L., Morvan, B., Thariat, J., Métivier, D., Marcy, Y., & Delarbre, D. (2022). Rationale Efficacy and Safety Evidence of Lenvatinib and Pembrolizumab Association in Anaplastic Thyroid Carcinoma. Current Oncology , 29 (10), 7718-7731. In addition to precision medicine and immunotherapy, current research is looking into new therapeutic techniques and technologies for treating thyroid cancer. One potential area of research is the creation of tailored radiotherapies, which deliver radiation to cancer cells while sparing healthy tissue. This method reduces adverse effects while increasing the therapeutic benefit of radiation treatment. Furthermore, advances in molecular imaging techniques such as positron emission tomography (PET) and magnetic resonance imaging (MRI) improve cancer staging and monitoring accuracy, allowing for more precise treatment planning and response evaluation. To reduce the incidence and fatality rates of thyroid cancer, a multimodal approach is required that addresses both primary prevention and early detection. Public health activities targeted at reducing modifiable risk factors, such as smoking cessation programmes and attempts to decrease environmental exposure to radiation and other carcinogens, can aid in the prevention of thyroid cancer. Furthermore, raising awareness of the signs and symptoms of thyroid cancer among healthcare providers and the general public can lead to earlier detection and treatment, which improves patient outcomes. Finally, maintaining equal access to high-quality healthcare services, such as cancer screening and treatment, is critical to reducing disparities in thyroid cancer outcomes across demographic groups. Finally, future thyroid cancer management options show significant promise for improving patient outcomes and lowering the disease's burden. We can make more progress against thyroid cancer by adopting precision medicine, immunotherapy, and other novel techniques. Addressing the underlying causes of thyroid cancer, as well as providing prompt and equitable access to healthcare, are critical for long-term reductions in incidence and fatality rates. Collaboration among academics, physicians, politicians, and patient advocates will be critical to achieving these objectives and improving the lives of those impacted by thyroid cancer. Conclusion Genetic, environmental, and socioeconomic variables all contribute to the complexity of thyroid cancer. Significant progress in illness management can be made by unravelling molecular pathways, monitoring mortality trends, and implementing novel interventions. Collaboration among stakeholders, such as researchers, physicians, policymakers, and patient advocates, is essential for turning scientific discoveries into practical advances in patient treatment and outcomes. Written by Sindhu Mohan Related articles: Prostate cancer research / Apocrine carcinoma / MAPK/ ERK signalling pathway Project Gallery

The rabies virus infects neurons Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Rabies- the scariest disease ever? 13/06/26, 16:29 Last updated: Published: 10/10/24, 12:05 The rabies virus infects neurons Rabies is a viral disease that primarily affects the central nervous system (CNS), usually in mammals. Wild animals such as foxes, dogs, and raccoons are frequent carriers of the virus. Transmission occurs through the saliva of an infected animal through a bite or a scratch, allowing the virus to enter the body and travel through the nervous system toward the brain. While rabies can be prevented with a vaccine (the latest one, ChAdOx2 RabG, is single-shot), once symptoms begin to show, the disease is nearly always fatal once symptoms begin to show. What makes this virus so deadly, and how can it take control of the human body with just five genes in its genome? Why is the virus so hard to kill? To arrive at a sensible answer, we must first understand the ‘tropism’ of the virus – the cell type it likes to infect. Rabies virus infects the neurones (neurotropic), which creates a massive problem for the immune system. Macrophages and neutrophils, which are the prominent cells in killing foreign pathogens that kill foreign pathogens, usually deal collateral damage to the body’s own cells to some extent. This must be avoided with neurones, as neurones cannot replenish themselves after cell death. An inflammation of the nerve cells could lead to paralysis and seizures, compromising the CNS. As a result, the immune system response is significantly lowered around nerve cells to prevent accidental damage, which allows the virus to infect the neural pathway easily. Transmission of the virus See Figure 1 The strategy of the immune system is that the neurones can be protected if the pathogens are intercepted before they travel to their destination. However, this strategy ultimately fails when it comes to rabies, because the transmission is through a bite, which can penetrate and cut through many layers of tissue, providing a direct access to nerve cells. If you were bitten on the leg, then the time it takes for the rabies virus to travel to your brain would be the time it takes for you to travel from Florida, USA to Sweden. This may seem like a long time, but the rabies virus has evolved a technique that is able to hijack the cellular transport system can trick your cells’ transport system to travel quickly through the nerves by binding to a protein called dynein . Dynein is a motor protein that move along the microtubules in cells, converting the chemical energy of ATP into mechanical work. Microtubules are polarized structures, with a plus end (typically towards the axon terminal in neurones) and a minus end (towards the cell body). Dynein moves toward the minus end, facilitating retrograde transport, meaning it moves materials from the periphery of the cell, such as the axon terminals, back toward the cell body. Dynein is transports chemicals inside cells via endocytosis and plays a vital role in the movement of eukaryotic flagella. Rabies has evolved to stick to dynein via the Glycoprotein (G) present on its viral envelope, which allows rabies to travel to the brain much quicker. Dynein may be small, weighing around two megadaltons (3 x 10-18 grams), but it can move at a speed of 800 nanometres per second. At this speed, it takes rabies around 14 days to move up a metre- long neuron. This implies that the closer the animal bites you to the brain, the less time it takes for the symptoms to appear. If you’re bitten on the foot, it could take months for the virus to reach your brain. But if you’re bitten on the neck or face, the virus can get to your brain in just a few days, making it much more dangerous. This explains the broad range in the incubation time which is between 20 to 90 days. Infection and replication- see Figure 2 As the rabies travels through neuronal tracks, it sets up points of concentrated viral production centres called Negri bodies. These replicate the rabies virus within the neurones and inhibit interferon action, which are chemicals that alert white blood cells to the area of infection. Interferon inhibition along with lowered immune response to neurones make rabies extremely effective. However, neurones can undergo apoptosis—controlled cell death—to limit the spread of the virus and allow macrophages to clear the debris. Research in mice suggests that some strains of rabies may prevent this apoptotic response in cells. Additionally, studies indicate that rabies promotes apoptosis in killer T cells, which are responsible for inducing apoptosis in other cells. This mechanism helps to shield nerve cells from immune system attacks. Symptoms Patients with rabies initially experience flu-like symptoms and muscle pain. Once these early symptoms appear, treatment is virtually impossible. As the disease progresses, neurological symptoms develop including hydrophobia due to painful throat spasms when swallowing liquids. About 10 days after these neurological symptoms start, patients enter a coma, often accompanied by prolonged sleep apnoea. As virus attacks the brain throughout this stage, patients develop the urge to bite other organisms to transmit the virus. The virus can reach the salivary glands, allowing for transmission through a bite to occur again. Most patients typically die within three days of reaching this coma stage. Legends Rabies may have influenced the development of vampire and zombie myths due to its distinct symptoms. The disease causes aggression and sensitivity to light, which could have inspired some characteristics of vampires, such as their aversion to light and erratic movements. Additionally, rabies leads to excessive salivation and a tendency to bite, traits that align with vampire lore. Similarly, the delirium and motor dysfunction seen in rabies may have contributed to the depiction of zombies as shuffling, incoherent beings. Conclusion Rabies is a uniquely deadly virus due to its mechanism of hijacking the nervous system. After entering the body, the virus binds to dynein, using it to travel along neuronal pathways toward the brain. It replicates rapidly, forming Negri bodies disrupting neurone function. The virus effectively suppresses immune responses, making it nearly impossible to treat once symptoms appear, leading to almost 100% fatality. Beyond its biological impact, rabies has influenced cultural stories like those of vampires and zombies, with its symptoms—such as aggression, fear of water, and neurological decay—providing eerie parallels to these myths. Despite modern medical advances, rabies remains one of the most feared infectious diseases due to its fatal nature. Written by Baraytuk Aydin Related articles: Rare zoonotic diseases / rAAV gene therapy REFERENCES CUSABIO (2020) Rabies virus overview: Structure, transmission, pathogenesis, symptoms, etc, CUSABIO. Available at: https://www.cusabio.com/infectious-diseases/rabies-virus.html (Accessed: 12 September 2024). Hendricks, A.G. et al. (2012) Dynein tethers and stabilizes dynamic microtubule plus ends, Current biology : CB. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3347920/ (Accessed: 13 September 2024). Lahaye, X. et al. (2009) Functional Characterization of Negri Bodies (NBS) in rabies virus-infected cells: Evidence that NBS are sites of viral transcription and replication, Journal of virology. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2715764/ (Accessed: 13 September 2024). Tarantola, A. (2017) Four thousand years of concepts relating to rabies in animals and humans, its prevention and its cure , MDPI . Available at: https://www.mdpi.com/2414-6366/2/2/5 (Accessed: 15 September 2024). Project Gallery

Decoding diversity in clinical settings Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Solving the mystery of ancestry with SNPs and haplogroups 10/02/25, 14:37 Last updated: Published: 15/01/24, 19:47 Decoding diversity in clinical settings Single nucleotide polymorphisms (SNPs) are genetic variants whereby one DNA base becomes substituted for another between individuals or populations. These tiny but influential changes play a pivotal role in defining the differences between populations, affecting disease susceptibility, response to medications, and various biological traits. SNPs serve as genetic markers and are widely used in genetic research to understand the genetic basis of complex traits and diseases. With advancements in sequencing technologies, large-scale genome-wide association studies (GWAS) have become possible, enabling scientists to identify associations between specific SNPs and various phenotypic traits. Haplotypes refer to clusters of SNPs commonly inherited together, whereas haplogroups refer to groups of haplotypes commonly inherited together. Haplogroups are frequently used in evolutionary genetics to elucidate human migration routes based on the ‘Out of Africa’ hypothesis. Notably, the study of mitochondrial and Y-DNA haplogroups has helped shape the phylogenetic tree of the human species along the female line. Haplogroup analysis is also instrumental in forensic genetics and genealogical research. Additionally, haplogroups play a crucial role in population genetics by providing valuable insights into the historical movements of specific populations and even individual families. Certain SNPs in some genes are of clinical importance as they may either increase or decrease the likelihood of developing a particular disease. An example of this is that men belonging to haplogroup I have a 50% higher likelihood of developing coronary artery disease 1 . This predisposition is due to SNPs present in some Y chromosome genes. Cases like these highlight the possibility of personalised medical interventions based on an individual’s haplogroup and therefore, SNPs in their genome. In this case, a treatment plan of exercise, diet, and lifestyle recommendations can be given as preventative measures for men of haplogroup I to mitigate genetic risk factors before they develop the disease. Written by Malintha Hewa Batage REFERENCE https://www.sciencedirect.com/science/article/pii/S002191501300765X?via%3Dihub [02/12/2023 - 14:53] Project Gallery

The natural body clock and the involvement of genetics Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link The chronotypes 26/04/26, 15:33 Last updated: Published: 27/11/24, 11:47 The natural body clock and the involvement of genetics Feeling like heading to bed at 9 pm and waking up at the crack of dawn? These tendencies define your chronotype, backed up by changes within your body. A generally overlooked topic, chronotypes affect our everyday behaviour. Many people innately associate themselves with a certain chronotype, but what do we know about how these physiological differences are caused at a molecular level? The word ‘chronotype’ was first coined in the 1970s, combining the Greek words chrono (time) and type (kind or form). While the term is relatively modern, the concept emerged in the 18th century. Researchers in the 1960s and 1970s, like Jürgen Aschoff, explored how internal biological clocks influence our sleep-wake cycles, leading to the classification of people into morning or evening types based on their activity patterns. The first evidence of body clocks was found in plants rather than humans, thus leading to the invention of flower clocks, which were used to tell the time of the day. Before delving into the details, let us be introduced to the general categories of chronotypes, which describe a person’s inclination to wake up and sleep while also affecting productivity periods. We know of the following three categories: The morning type (also referred to as larks): they are inclined to wake up and go to bed early because they feel most alert and productive in the mornings. The evening type (also called the owls): they feel most alert and productive in the evenings and onwards, so they are inclined to wake up and go to bed later. The intermediate types (also referred to as the doves): they fall in the middle of this range. Let’s explore what we know about the genetics that prove that chronotypes are a natural phenomenon. Genetics of chronotypes The main determining factor in our chronotypes is the circadian period. This is the body’s 24 hour cycle of changes that manifest into feelings of productivity and energy or tiredness. The length of this is crucial in determining our chronotypes. More importantly, specific physiological changes that cause these effects are melatonin and core body temperature. One study suggested that the morning types might have circadian periods shorter than 24 hours, whereas evening chronotypes might have circadian periods longer than 24 hours. A major clock gene is PER, which includes a collection of genes known as PER1, PER2 and PER3, which are thought to regulate circadian period factors. Specifically, it has been observed that a delay in the expression of the PER1 gene in humans causes an increased circadian period. Possible causes for this delay may be rendered to a variation within the negative feedback loop that PER1 operates in, including hereditary differences, environmental causes, changes to hormonal signals and age. This process may describe the mechanism behind the evening chronotype. Molecular polymorphs in the PER3 gene are thought to cause shorter circadian rhythms and the manifestation of the morning types. Similarly, a polymorph in the PER3 gene can be caused by a plethora of causes, as described for PER1. These nuances cause differences in the periodic release and stop of hormones which control the circadian rhythm, such as melatonin and body temperature. This is important in its power to control our energy levels, windows of productivity, and sleep cycles. The consensus remains that chronotypes are attributable to genetic premeditation by 50%, however, it has also been observed that chronotypes are prone to change with advancing age. Increased age is associated with an inclination towards an earlier phase chronotype. Age-related variation has been observed to be higher in men. There also exists an association between geographical locations and phase preference; increasing latitude (travelling North or South) from the earth's equator is associated with later chronotypes. Of course, many variations and factors come into play to affect these findings, such as ethnic genetics, climate, work culture and even population density. The effect on core body temperature and melatonin Polymorphisms in the PER3 cause a much earlier peak in body temperature and melatonin in the morning than in the evening and intermediate types. These manifest as the need to sleep much earlier in the morning and a decreased feeling of productivity later in the day. In contrast, the evening types experience a later release of melatonin and a drop in core body temperature, causing a later onset of tiredness and lack of energy. It can then be inferred that the intermediate types are affected by the expression of these genes in a way that falls in the middle of this spectrum. The Morning-Eveningness Questionnaire (MEQ) The MEQ is a self-reported questionnaire you may complete to gain more insight into your chronotype category. Clinical psychologist Micheal Breus created it and uses different animals to categorise the chronotypes further. The framework suggests that the Bear represents individuals whose energy patterns are entrained to the rising and the sun's setting and are the most common types in the general population. The Lions describe the early risers, and Wolves roughly equate to the evening types. Recently, a fourth chronotype has been proposed: the Dolphin, whose responses to the questionnaire suggest that they switch between modes. Whether you're a Bear, Lion, Wolf, or Dolphin, understanding your chronotype can be a game-changer in optimising your daily routine. So, what’s your chronotype—and how can you start working with your body’s natural rhythms to unlock your full potential? A sleep study ? The MEQ ? Maybe keeping a tracker. Conclusion Understanding differences in circadian rhythms and sleep-wake preferences offers valuable insights into human behaviour and health. Chronotypes influence various aspects of daily life, including sleep patterns and quality, cognitive performance and susceptibility to specific health conditions, including sleep-wake conditions. An extreme deviation in circadian rhythms and sleep cycles may lead to such conditions as Advanced sleep-wake phase Disorder (ASPD) and Delayed sleep-wake phase Disorder (DSPD). Recognising these variations is also helpful in optimising work schedules and aligning to jet lags, improving mental and physical health by tailoring our biological rhythms to our environments. Many individuals opt to do a sleep study at an institution to gain insights into their circadian rhythms. A healthcare professional may also prescribe this if they suspect you have a circadian disturbance such as insomnia. Written by B. Esfandyare Related articles: Circadian rhythms and nutrition / Does insomnia run in families? REFERENCES Emens JS, Yuhas K, Rough J, Kochar N, Peters D, Lewy AJ. Phase Angle of Entrainment in Morning‐ and Evening‐Types under Naturalistic Conditions. Chronobiology International. 2009 Jan;26(3):474–93. Lee, J.H., Kim, I.S., Kim, S.J., Wang, W. and Duffy, J.F. (2011). Change in Individual Chronotype Over a Lifetime: A Retrospective Study. Sleep Medicine Research , 2(2), pp.48–53. doi: https://doi.org/10.17241/smr.2011.2.2.48 . Ujma, P.P. and Kirkegaard, E.O.W. (2021). The overlapping geography of cognitive ability and chronotype. PsyCh Journal , 10(5), pp.834–846. doi: https://doi.org/10.1002/pchj.477 . Shearman LP, Jin X, Lee C, Reppert SM, Weaver DR. Targeted Disruption of the mPer3 Gene: Subtle Effects on Circadian Clock Function. Molecular and Cellular Biology. 2000 Sep 1;20(17):6269–75. Viola AU, Archer SN, James Lynette M, Groeger JA, Lo JCY, Skene DJ, et al. PER3 Polymorphism Predicts Sleep Structure and Waking Performance. Current Biology. 2007 Apr;17(7):613–8. Project Gallery

A rare neurological disease that is caused by a flaw in genetics Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Pseudo-Angelman Syndrome 03/04/26, 17:13 Last updated: Published: 07/09/24, 21:20 A rare neurological disease that is caused by a flaw in genetics This is article no. 8 in a series on Rare Diseases. Next article: Breaking down Tay-Sachs . Previous article: Apocrine carcinoma . An overview Name of the disease: Pseudo-Angelman Syndrome Other names the disease is known by: MBD5-Associated Neurodevelopmental Disorder (MAND) 2q23.1 microdeletion syndrome Del(2)(q23.1) monosomy 2q23.1 Prevalence rate in the US: <1000 Average life expectancy: mid-50s – early 70s for severe to moderate intellectual disabilities Mortality rate: <10% in individuals with severe to moderate intellectual disabilities (this rate is more than double the general population) Pseudo-Angelman syndrome is a neurological disease, which is classified as Rare since it affects fewer than 1000 people in the US (as reported by the National Institute of Health). However, the information on this disease, like other rare diseases, is incomplete. This article aims to raise awareness of rare neurological diseases such as Pseudo-Angelman syndrome. Onset of symptoms: the symptoms of the disorder can appear early as a newborn and an infant Its symptoms include: - Seizures - Moderate-severe learning difficulties- mental retardation (MR)- and behaviour issues (the roles of the frontal and parietal lobes in the brain are planning and executing actions, as well as proprioception) - Speech and developmental delays (one of the functions the temporal lobe in the brain is responsible for is audio processing and speech) - Trouble sleeping - Repetitive movements of the fingers, wrists, etc. or motor stereotypy Hypotonia, slow weight gain, and shorter height may also be present in children affected by the disease. Symptoms help diagnose the diagnosis, but only genetic testing confirms it. The genetic mechanism of the disease Genetic cause of the disease: a microdeletion on 2q23.1 A chromosomal deletion occurs when a region of a chromosome is removed, resulting in the loss of genetic material within that specific segment. A microdeletion affects an even smaller part on the chromosome. Hence, in Pseudo-Angelman syndrome, the 2q23.1 microdeletion involves the loss of a small section of DNA on chromosome no. 2. More specifically, the DNA is lost from position 23.1 on chromosome 2. The exact role of chromosome 2 is not yet known (there is active research in this field), but chromosome 2 likely contains protein-coding genes. The chances are that key proteins that genes in chromosome 2 code for, are not made when there is a 2q23.1 microdeletion i.e. the microdeletion removes these crucial genes, and so cells cannot produce the proteins. Thus, giving rise to Pseudo-Angelman syndrome in the individual. Indeed, research has shown that usually the MBD5 gene is deleted in patients with the syndrome (in one study, all 15 patients had lost this gene from the removed region). The next prominent gene that is deleted is EPC2 , which is a gene that is thought to be involved in causing MR. Inheritance of the disease: mostly de novo A study by van Bon et. al (2009) depicted that 10 out of 11 patients were shown to have de novo inheritance of 2q23.1 microdeletion. Comparison to Angelman syndrome See Table 1 The syndrome is called Pseudo-Angelman, so where does the Angelman part of the name come from? (The disease is named after Dr. Harry Angelman, who had first described and reported the syndrome in 1965). Angelman syndrome (AS) is also a rare disease, however, it has a higher prevalence rate than Pseudo-Angelman. One possibility could be in the way these different conditions come about in the first place. Loss of function (rather than a deletion) of the UBE3A gene in chromosome 15 from the mother, gives rise to AS. It is an example of an imprinting disorder. (Two copies of each chromosome are normally inherited, but in genomic imprinting, only one copy of a particular chromosome is passed on i.e. either the copy from the mother is inherited, or from the father- not both. Deletion, loss of function etc. may cause the other copy to not be inherited. Imprinting disorders lead to developmental and growth problems in the affected individual). In contrast, Pseudo-Angelman syndrome is often de novo, and not inherited. It is not an imprinting disorder like Angelman’s, because Pseudo-Angelman is caused by a microdeletion in 2q23.1. However, AS presents severe physical, learning, and intellectual problems. The syndrome causes seizures and developmental delays. The similarity in patients with Pseudo-Angelman can be seen here; therefore, it may be why Pseudo-Angelman is named so. Table 1: a comparison of AS and Pseudo-Angelman syndrome Angelman syndrome (AS) Pseudo-Angelman Syndrome Prevalence rate 1 in 20,000- 12,000 <1000 in the US Symptoms in common severe physical, learning, and intellectual problems seizures and developmental delays severe physical, learning, and intellectual problems seizures and developmental delays Cause Loss of function of UBE3A gene Microdeletion (of MBD5 and ECP2 genes among others) Chromosome affected Chromosome 15 Chromosome 2 (2q23.1) Mode of inheritance Genomic imprinting; inherited in an autosomal dominant way in rare cases De novo Are there any treatments for Pseudo-Angelman syndrome? Cure available: none There is no one cure to help patients with the disease, but depending on symptoms, treatment may be offered accordingly. Current treatments based on symptoms: - Seizures--> anti-seizure medicines - Behaviour issues--> behaviour therapy - Speech and developmental delays--> speech therapy - Difficulty sleeping--> medicine, sleep training Potential future treatments or cures: targeted therapy in chromosome 2 Latest research has confirmed Mbd5 as the primary driver of symptoms through the use of Mbd5 gene-trap mouse models, which mimic human behavioral and cognitive deficits- thus giving this syndrome a new term, MBD5-Associated Neurodevelopmental Disorder (MAND). The outlook for research into this disease Aside from discerning the exact roles and functions of the genes on chromosome 2, there is active research in targeted therapy for Pseudo-Angelman syndrome. Likely, once the rest of the roles of the genes on chromosome 2 are elucidated, efforts can be invested towards modifying or even inserting these genes (i.e. MBD5 ) back into the chromosome, which would lead to better protein expression. This could be a possible treatment for the rare neurological disease. Outside the molecular and genetic front, there should be increased awareness about this disease: this helps in reporting and diagnosing the syndrome, in addition to providing care and treatment to patients and their families. Summary In conclusion, Pseudo-Angelman Syndrome (now known as MBD5-Associated Neurodevelopmental Disorder (MAND)), is a rare 2q23.1 microdeletion syndrome, which gets its name from the imprinting disorder AS. Pseudo-Angelman is characterised by seizures, moderate to severe learning difficulties, and developmental delays. Hence, making it a neurological disease as well. Treatments are available according to symptoms; but efforts are ongoing to ascertain the roles of other chromosome 2 genes, especially Mbd5, leading to potential targeted therapy. -- Patient organisations specifically for this disease: - Chromsome Disorder Outreach - Unique The information in this article does not substitute professional medical advice. For any concerns, please refer to your doctor or local genetic centre. -- Written by Manisha Halkhoree Related article: Childhood intelligence REFERENCES van Bon, B., Koolen, D., Brueton, L. et al. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet 18, 163–170 (2010). https://doi.org/10.1038/ejhg.2009.152 Mayo Clinic, 2024. Angelman syndrome . Retrieved from Mayo Clinic: https://www.mayoclinic.org/diseases-conditions/angelman syndrome/diagnosis-treatment/drc-20355627#:~:text=Depending%20on%20your%20child's%20symptoms,sign%20language%20and%20picture%20communication. Medline Plus, 2024. Angelman syndrome . Retrieved from Medline Plus Gov: https://medlineplus.gov/genetics/condition/angelman-syndrome/#:~:text=Angelman%20syndrome%20affects%20an%20estimated%201%20in%2012%2C000%20to%2020%2C000%20people . National Institute of Health, 2024. 2q23.1 microdeletion syndrome . Retrieved from National Institute of Health: https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome Project Gallery