The secrets of the brain are secrets no longer; the field of neuroscience is rapidly expanding day by day. Read articles which discuss Parkinsonism, Huntington’s, degeneration, Alzheimer’s, and more. Neuroscience Articles The secrets of the brain are secrets no longer; the field of neuroscience is rapidly expanding day by day. Read articles which discuss Parkinsonism, Huntington’s, degeneration, Alzheimer’s, and more. You may also like: Biology , Immunology , Medicine Synaptic plasticity and London taxi drivers Synaptic plasticity and navigating our surroundings Stress and neurodegeneration And how the hormone cortisol plays a significant role Markers for Parkinsonism Exploring the role of TDP43 The wonders of the human brain A basic overview of brain function The brain-climate connection Can rising temperatures really affect our brains? Schizophrenia and accelerated ageing A complex medical phenotype Squid axons And how they were fundamental to discoveries in neuroscience Alzheimer's disease Its pathology and potential treatment Serial killers Their neurological basis Huntington's disease A rare, inherited, debilitating neurological disease Electricity in the body Luigi Galvani 's work PTSD and intrusive memories Article #1 in a series on Post Traumatic Stress Disorder and traumatic memories Mobility disorders Hypermobility spectrum disorders vs. Hypermobile Ehlers-Danlos Syndrome Brief neuroanatomy of autism Autism is a neurological and developmental disorder Oliver Sacks Who was this famous neuroscientist? A treatment for Huntington's disease Antisense oligonucleotide gene therapy PTSD and Tetris Article #2 in a series on Post Traumatic Stress Disorder and traumatic memories The dopamine connection The link between the brain and the digestive system Neuromyelitis optica (NMO)- Devic disease How is it different to Multiple Sclerosis? Article #8 in a series on Rare diseases. DFNB9 How was this form of deafness treated for the first time? Next

Channel-blocking nanoparticles as a potential solution to plant diseases Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link The secret to disarming plant pathogens revealed Last updated: 22/09/25, 11:14 Published: 27/03/25, 08:00 Channel-blocking nanoparticles as a potential solution to plant diseases Unravelling the role of bacterial proteins in plant diseases! Disarming plant diseases one protein at a time! Scientists may have found a means to neutralise them, saving farmers $220 billion in yearly crop losses. The impact of plant diseases on global food production Bacteria have long been known to wreak havoc on crops, threatening our food supply and causing substantial economic losses. For over two decades, biologist Sheng-Yang He and his dedicated team have been delving into the mysterious world of bacterial proteins, seeking to unravel their role in plant diseases that plague countless crops worldwide. Finally, a breakthrough has been achieved after years of tireless research and collaboration. In a groundbreaking study published in the esteemed journal Nature, he and his colleagues have uncovered the mechanisms by which these proteins induce disease in plants and devised a method to neutralise their harmful effects. Understanding the mechanism of harmful proteins Their investigation focused on a group of injected proteins called AvrE/DspE, responsible for causing diseases ranging from brown spots in beans to fire blight in fruit trees. Despite their significance, the exact workings of these proteins have long remained elusive. The researchers discovered that these proteins adopt a unique 3D structure resembling a tiny mushroom with a cylindrical stem through cutting-edge advancements in artificial intelligence and innovative experimental techniques. Intriguingly, this structure resembled a straw, leading the team to hypothesise that the proteins create channels in plant cells, enabling the bacteria to extract water from the host during infection. Further investigation into the 3D model of the fire blight protein revealed that its hollow inner core contains many proteins from the AvrE/DspE family. These proteins were found to suppress the plant's immune system and induce dark water-soaked spots on leaves, the telltale signs of infection. However, armed with this newfound knowledge, the researchers sought to develop a strategy to disarm these proteins and halt their destructive effects. They turned to poly(amidoamine) dendrimers (PAMAM), tiny spherical nanoparticles with precise diameters that can be tailored in the lab. By experimenting with different sizes, they identified a nanoparticle that effectively blocked the water channels formed by the bacterial proteins. Application of nanoparticles in blocking water channels In a remarkable series of experiments, the researchers treated frog eggs engineered to produce the water channel protein with these channel-blocking nanoparticles. The results were astounding—the eggs no longer swelled with water and remained unaffected. Similarly, infected Arabidopsis plants treated with the nanoparticles significantly reduced pathogen concentrations, effectively preventing disease development. This breakthrough discovery offers a glimmer of hope in the battle against plant diseases, which cause immense losses in global food production. Plants are responsible for 80% of the world's food supply, and protecting them from pathogens and pests is crucial for ensuring food security. The team's groundbreaking research on plant pathogens and their harmful proteins opens up new possibilities for combating various plant diseases. The implications of their findings extend far beyond a single crop or disease, offering novel approaches to address a wide range of plant diseases. By understanding the mechanism by which bacterial proteins, such as AvrE and DspE, cause diseases in plants, researchers can now explore strategies to disarm these proteins and prevent their harmful effects. The team discovered that these proteins act as water channels, allowing bacteria to invade plant cells and create a saturated environment that promotes their growth. This insight led to the development of channel-blocking nanoparticles, effectively preventing bacteria from infecting plants and causing disease symptoms. Using precise nanoparticles, such as PAMAM dendrimers, to block plant pathogens' water channels represents a promising avenue for crop protection. Figure 1: this figure shows that PAMAM are very branched polymers that are very small, have a low polydispersity index, and have a lot of active amine functional groups. They have multiple modifiable surface functionalities, facilitating the conjugation of ligands for cancer targeting, imaging, and therapy. PAMAM dendrimers also have solubilisation, high drug encapsulation, and passive targeting ability, contributing to their therapeutic success. Cancer researchers are excited about their potential as drug carriers and non-viral gene vectors, with a focus on diagnostic imaging applications. These nanoparticles can be tailored to specific diameters, allowing for targeted disruption of the bacterial proteins' channels. The nanoparticles effectively render the bacteria harmless by interfering with the proteins' ability to create a moist environment within plant cells. This innovative approach has shown success in combating diseases caused by pathogens like Pseudomonas syringae and Erwinia amylovora . Implications for global food production and food security The potential impact of this research on global food production is immense. Plant diseases result in significant crop losses, amounting to over 10% of global food production annually. This translates to a staggering $220 billion economic loss worldwide. Developing strategies to disarm harmful proteins and protect crops from diseases can mitigate these losses and enhance food security. Furthermore, the team's findings highlight the critical role of plant biology research in addressing global challenges. Plants provide 80% of our food, making their health and protection crucial for sustaining our growing population. By understanding how pathogens infect plants and developing innovative solutions, we can safeguard our food supply and reduce the economic impact of crop diseases. Experimental results and a promising outlook The researchers aim to further investigate the interaction between channel-blocking nanoparticles and bacterial proteins. By visualising the structures and mechanisms involved, they hope to refine their designs and develop even more effective strategies for crop protection. Additionally, artificial intelligence, such as the AlphaFold2 programme, has proven instrumental in predicting the 3D structures of complex proteins. Continued advancements in AI technology will undoubtedly contribute to further breakthroughs in understanding and combating plant diseases. By unravelling the mechanisms by which harmful proteins cause diseases in plants and developing innovative strategies to disarm them, we can protect global food production and enhance food security. The implications of this research extend beyond a single crop or disease, paving the way for novel approaches to combat a wide range of plant diseases and safeguard our agricultural systems. Conclusion The groundbreaking research conducted by biologist Sheng-Yang He and his team offer hope in the fight against plant diseases. By revealing the mechanisms by which harmful proteins cause diseases in plants and developing innovative strategies to disarm them, they have paved the way for novel approaches to combat various plant diseases. This enhances food security and protects global food production, reducing economic losses and ensuring a sustainable future. With continued advancements in artificial intelligence and the development of precise nanoparticles, the possibilities for further breakthroughs in understanding and combating plant diseases are endless. By safeguarding our agricultural systems, we can secure the health of our crops and, ultimately, the well-being of our growing population. The implications of this research extend far beyond agriculture, offering new avenues for addressing global challenges and paving the way for a brighter and more resilient future. Figure 2: this figure shows a working model for the molecular actions of AvrE-family effectors in plants. AvrE-family effectors are water- and solute-permeable channels that change the osmotic and water potential and make an apoplast that is rich in water and nutrients for bacteria to grow in plant tissues that are infected. They can also engage host proteins to modulate AvrE-family channel properties or optimise pathogenic outcomes. Written by Sara Maria Majernikova Related articles: Digital innovation in rural farming / Nanomedicine / Mechanisms of pathogen evasion / Nanocarriers REFERENCE Kinya Nomura, Felipe Andreazza, Jie Cheng, Ke Dong, Pei Zhou, Sheng Yang He. Bacterial pathogens deliver water- and solute-permeable channels to plant cells. Nature , 2023; DOI: 10.1038/s41586-023-06531-5 Project Gallery

AI in developing different space technologies Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Artificial intelligence in space 11/04/26, 15:03 Last updated: Published: 19/11/23, 17:31 AI in developing different space technologies Artificial intelligence or AI has become an important force or a tool that drives the evolution of technologies that improve human life and helps unlock the secrets of the universe beyond the influence of our planet. In simple words, AI is something that enables a computer/ robot to mimic human intelligence and it is revolutionizing the way we explore and utilise space, enhancing everything from spacecraft navigation and autonomous decision-making to data analysis and mission planning. This article explores the profound impact of AI in the development of space related technologies. Mission planning and design Space mission planning and payload, instrument designs rely on the gathered previous mission data. However, access to all the historic mission data is only provided to individuals with a higher authority access at the space agency which requires a lot of paper works and approvals. But recently NASA came up with a solution and they named it as the “Data Acquisition Processing and Handling Network Environment” (DAPHNE) system. Daphne-AT is an AI assistant that can access millions of previous mission data including the most restricted ones and provide the scientists an insight about their mission without the need of a higher authority access or security clearance. It can also compute and analyse countless input variables to determine the most efficient routes and schedules for missions, which is crucial for long-duration missions or missions with multiple objectives. Manufacturing Manufacturing processes usually involves complex tasks that requires high precision and attention to detail when it comes to space related applications. The use of AI in spacecraft manufacturing not only accelerates production but also increases precision and reliability. AI assistants like collaborative bots (cobots) interact with the engineers and help them to make the right decisions, reduce the overall assembly process time, and also provide insights about the final product which ensures that the spacecrafts are built to the highest standards. Data processing Space missions generate vast amounts of data, from images and telemetry to instrument readings. AI algorithms are capable in sifting through this data, identifying patterns, and extracting meaningful insights. An example is the estimation of planetary wind speed which requires a combination of the satellite imagery and meteorological data. AI tools can rapidly analyse these large datasets and help scientists in understanding these planetary phenomena and easily uncover its secrets. This capability is also valuable in missions to study distant galaxies, black holes, and exoplanets. Navigation & guidance systems One of the critical applications of AI in space technology is autonomous navigation. Spacecraft traveling vast distances through the cosmos must constantly adjust their trajectories to avoid collisions with celestial bodies and maximise their fuel efficiency. Advanced AI systems can process data in real-time and autonomously adjust a spacecraft's course. This not only reduces the need for constant human intervention from the ground station but also allows for more precise and efficient missions. Astronaut health monitoring Astronauts in space face a range of health issues like bone density loss, cardiovascular issues etc. The AI systems can continuously monitor physiological data and provide an insight into the astronaut’s health condition including sleep patterns. This allows early detection of health issues and timely intervention which reduces the need for immediate communication with ground mission control, ultimately safeguard the safety of the astronauts on long-duration missions. In summary, AI is a tool that represents a transformative shift in how we explore and understand our cosmos and its secrets. One day, AI will play an even more significant role that pushes the boundaries of space and bring us closer to answering some of humanity’s most profound questions. Written by Arun Sreeraj Related articles: Astronauts in space / AI in drug discovery / Evolution of AI / Chemistry in space exploration Project Gallery

A chemical perspective Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link The environmental impact of EVs 16/01/25, 11:21 Last updated: Published: 07/08/23, 16:58 A chemical perspective Electric vehicles (EVs) are gaining momentum worldwide as a greener alternative to conventional internal combustion engine vehicles (ICEVs). The environmental benefits of EVs extend beyond their efficient use of electricity. In this article, we explore the chemical aspects of EVs and their environmental impact, shedding light on their potential to mitigate climate change and reduce pollution. Greenhouse Gas Emissions Reduction: EVs play a crucial role in addressing climate change by significantly reducing greenhouse gas (GHG) emissions. Unlike ICEVs that rely on fossil fuels, EVs generate zero tailpipe emissions. By utilising electricity as their energy source, EVs minimise the release of carbon dioxide (CO2) and other GHGs responsible for global warming. However, it's essential to consider the environmental implications of electricity generation, emphasising the need for renewable energy sources to maximise the positive impact of EVs. Battery Chemistry and Resource Management: The heart of an EV lies in its rechargeable battery, typically composed of lithium-ion technology. The production and disposal of these batteries present both opportunities and challenges. Raw materials, such as lithium, cobalt, and nickel, are essential components of EV batteries. Responsible mining practices and efficient recycling techniques are vital to minimising the environmental impact of resource extraction and ensuring proper disposal or repurposing of used batteries. Electrochemical Reactions and Energy Storage: Electric vehicles rely on electrochemical reactions within their batteries to store and release energy. These reactions involve the flow of ions, typically lithium ions, between the positive and negative electrodes. Understanding the chemistry behind these processes enables the development of more efficient and durable battery systems. Continued research and innovation in battery chemistry hold the potential to enhance energy storage capabilities, extend EV range, and improve overall performance. Air Quality and Emission Reduction: EVs contribute to improved air quality due to their zero tailpipe emissions. By eliminating the release of pollutants such as nitrogen oxides (NOx), particulate matter (PM), and volatile organic compounds (VOCs), EVs reduce smog formation and respiratory health risks. This is particularly significant in urban areas, where high concentrations of vehicular emissions contribute to air pollution. The adoption of EVs can help combat these issues and create cleaner and healthier environments. Battery Recycling and the Circular Economy: Given the increasing demand for EVs, battery recycling plays a vital role in ensuring a sustainable future. Recycling allows for the recovery of valuable materials and reduces the need for resource extraction. Effective recycling processes can mitigate the environmental impact of battery production, minimise waste generation, and promote a circular economy approach, where materials are reused and recycled to their fullest extent. Future Prospects and Chemical Innovations : Advancements in battery technology and chemical engineering are key to unlocking the full potential of EVs. Research efforts are focused on developing alternative battery chemistries, such as solid-state batteries, which offer improved energy density, safety, and recyclability. Additionally, exploring sustainable materials and manufacturing processes for batteries can further reduce the environmental footprint of EVs. In conclusion, electric vehicles represent a promising solution to combat climate change, reduce pollution, and promote sustainable transportation. From the chemistry behind battery systems to their impact on air quality and resource management, EVs offer a greener alternative to traditional vehicles. Continued research, innovation, and collaboration between the automotive industry, chemical scientists, and policymakers are essential for realising the full potential of EVs and creating a cleaner, more sustainable future. Written by Navnidhi Sharma Related articles: Hydrogen cars / The brain-climate connection / Plastics and their environmental impact Project Gallery

Code to cure Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link How did bioinformatics allow for swift development of the SARS-CoV-2 vaccine? 30/01/25, 12:36 Last updated: Published: 03/09/24, 14:05 Code to cure Traditionally, vaccine development takes years. However, the urgent need for a vaccine to mitigate the effects of this pandemic sped up the process. Bioinformaticians played a crucial role in enabling the swift development of effective SARS-CoV-2 vaccines in many ways. Bioinformatics is the science of performing computational analysis and applying computational tools to capture and interpret biological data. The SARS-CoV-2 virus, with its rapid transmission and mutation rates, quickly became one of the most widespread and economically disruptive pandemics in history. According to Naseer et al. (2022), the global economy has been estimated to lose nearly 9 trillion due to the pandemic by the chief of the International Monetary Fund (IMF). Scientists sequenced the SARS-CoV-2 virus within the first few months of the viral outbreak, and the first SARS-CoV-2 genome sequence was published on GenBank on 10 January 2020. However, a sequence on its own means little, that is until the genes and regulatory elements present in the genome are determined. This was made possible by many bioinformatic tools and pipelines such as: - BLAST (Basic Local Alignment Search Tool): A sequence alignment tool used to find on regions of similarity and infer function and evolutionary relationships. - VADR (Viral Annotation DefineR): An automated annotation tool specifically for viral genomes - Velvet: A de novo sequence assembler i.e. it constructs a longer, full sequence from short read data obtained from next-generation sequencing. The information collected by different labs was shared worldwide, which allowed for a global collaborative effort towards developing a SARS-CoV-2 vaccine. Bioinformaticians also played a role in predicting the 3D structures of the proteins on the surface of the SARS-CoV-2 virus including the spike protein, which is protein against which vaccines build immunity. By using computational tools such as AlphaFold, they could model the structure of the spike protein and identify key sites to target in immunisation strategies. Another method used to identify key sites to target is Epitope Mapping, which is the identification of specific regions on an antigen that are recognised by parts of the immune system such as T Cell Receptors and antibodies. Tools such as IEDB Analysis Resource and BepiPred allow for the identification of epitopes on the SARS-CoV-2 spike that are highly immunogenic, meaning they are able to stimulate a strong immune response, and are therefore ideal targets for vaccines. SARS-CoV-2 is a highly mutagenic virus and one incredibly important bioinformatic platform known as GISAID which has enabled the real-time monitoring of these mutations. This comprehensive and open-access database was key to updating vaccine formulations and maintaining efficacy against emerging variants. In conclusion, although sometimes overlooked, bioinformatics played a crucial factor in fighting SARS-CoV-2 as efficiently and quickly as we did. From genome sequencing to mutation mapping, bioinformaticians have taken arms at every stage of battling the SARS-CoV-2 pandemic. Written by Devanshi Shah Related articles: Origins of COVID / COVID-19 glossary / Correlation between HDI and mortality rate during the pandemic / mRNA vaccines REFERENCES Chatterjee, R., Ghosh, M., Sahoo, S., Padhi, S., Misra, N., Raina, V., Suar, M. & Son, Y.-O. (2021) Next-Generation Bioinformatics Approaches and Resources for Coronavirus Vaccine Discovery and Development—A Perspective Review. Vaccines . 9 (8), 812. doi: 10.3390/vaccines9080812 . Hufsky, F., Lamkiewicz, K., Almeida, A., Aouacheria, A., Arighi, C., et al. (2020) Computational strategies to combat COVID-19: useful tools to accelerate SARS-CoV-2 and coronavirus research. Briefings in Bioinformatics . 22 (2), 642–663. doi: 10.1093/bib/bbaa232 . Ma, L., Li, H., Lan, J., Hao, X., Liu, H., Wang, X. & Huang, Y. (2021) Comprehensive analyses of bioinformatics applications in the fight against COVID-19 pandemic. Computational Biology and Chemistry . 95, 107599. doi: 10.1016/j.compbiolchem.2021.107599 . Torrington, E. (2022) Bioinformaticians: the Hidden Heroes of the COVID-19 Pandemic. BioTechniques . 72 (5), 171–174. doi: 10.2144/btn-2022-0039 . PYMOL: Schrödinger, LLC. (2024). PyMOL Molecular Graphics System (Version 2.5.4) [Software]. Available at: https://pymol.org/2/ [Accessed 3 Jul. 2024]. RCSB PDB 7T3M: Protein Data Bank. (2024). PDB ID: 7T3M, [online] Available at: https://www.rcsb.org/structure/7T3M [Accessed 3 Jul. 2024]. Project Gallery

Laser Interferometric Gravitational-wave Observatory (LIGO) Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link The physics of the world’s largest gravitational-wave observatory: LIGO 23/10/25, 11:23 Last updated: Published: 11/05/24, 12:16 Laser Interferometric Gravitational-wave Observatory (LIGO) Since the confirmation of detection, talk of gravitational waves has drastically increased in the public forum. In February 2016, the Laser Interferometric Gravitational-wave Observatory (LIGO) Collaboration announced that they had sensed gravitational waves, or ripples in spacetime, caused by the collision of two black holes approximately 1.3 billion light years away. Such an amazing feat quickly became globalized news with many asking how it could be physically possible to detect an event occurring at an unimaginable distance? For some, the entire situation feels incomprehensible. Although named an observatory, LIGO looks quite different from observatories such as the late Arecibo Observatory in Puerto Rico, the Very Large Array (VLA) in New Mexico, or the Lowell Observatory in Arizona. Instead of being related to the traditional telescope concept, LIGO is comprised of two interferometers, one in Hanford, Washington and the other in Livingston, Louisiana, that use lasers to detect vibrations in the fabric of spacetime. An interferometer is an L-shaped apparatus with mirrors at the end of each arm specifically positioned to split the incoming light waves, specifically in this case laser waves, into an interference pattern. This pattern is then detected by a device called a photodetector, which converts the pattern into carefully recorded data. When an incredibly violent event occurs, two black holes colliding, for instance, that action results in a massive release of energy that ripples across the fabric of spacetime. The energy from the event vibrates the laser light causing a change in the recorded light pattern. This change is also recorded by the photodetector and stored as data, which scientists can collect to analyze as needed. Because the LIGO detector is so sensitive, there are a number of systems in place to maintain its functionality and reliability. The apparatus is comprised of four main systems: 1) seismic isolation that focuses on removing non-gravitational-wave detections (also called ‘noise’) 2) optics that regulate the laser 3) a vacuum system preserving the continuity of the laser by removing dust from the components 4) computing infrastructure that manages the collected scientific data. The collaboration of these systems helps to minimize the number of false detections. False detections are also kept at a minimum with the effective communication between the Washington and Louisiana LIGO sites. It took months for the official announcement of the 2015 gravitational-wave detection because both locations had to compare data to ensure that the detection of one apparatus was also accurately detected by the other apparatus. Because of human activity on Earth, there can be a number of vibrations similar to gravitational-wave ripples, but ultimately are shown to be terrestrial events rather than celestial ones. So, while LIGO physics itself is fairly straightforward, the interpretation of the gathered data tends to be tricky. Written by Amber Elinsky Related articles: the DESI instrument / the JWST / The physics behind cumulus clouds / Light Project Gallery

Famine-induced epigenetic changes and public health strategies in affected populations Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Why South Asian genes remember famine Last updated: 18/09/25, 09:44 Published: 23/01/25, 08:00 Famine-induced epigenetic changes and public health strategies in affected populations Our genes are often thought of as a fixed blueprint, but what if our environment could change how they work? This is the intriguing idea behind epigenetics—a field that shows how our environment, combined with the body’s adaptive responses for survival, can influence gene expression without altering our DNA. In South Asia, famines such as the infamous Bengal Famine of 1943 caused immense suffering, and these hardships may have triggered genetic changes that continue to affect generations. Today, South Asians face an increased risk of developing Type 2 diabetes by age 25, whereas White Europeans generally encounter this risk around age 40. What is driving this difference in risk? This article will explore the science behind these epigenetic changes, their impact on the descendants of famine survivors and how these insights can shape public health, policy, and research. The legacy of historical famines In 1943, the Bengal Famine claimed around three million lives. Nobel laureate Amartya Sen argues that the severity of the famine was not merely a result of prior natural disasters and disease outbreaks in crops. Instead, it was primarily driven by wartime inflation, speculative buying, and panic hoarding, which disrupted food distribution across the Bengal region. Consequently, for the average Bengali citizen, death from starvation, disease, and malnutrition became widespread and inevitable. The impact of the famine extended well beyond the immediate loss of life. Dr Mubin Syed, a radiologist specialising in vascular and obesity medicine, emphasises that these famines have left a lasting mark on the health of future generations. Dr Syed explains that South Asians, having endured numerous famines, have inherited "starvation-adapted" traits. These traits are characterised by increased fat storage. As a result, the risk of cardiovascular diseases, diabetes, and obesity is heightened in their descendants. This tendency towards fat storage is believed to be closely tied to epigenetic factors, which play a crucial role in how these traits are passed down through generations. Epigenetic mechanisms and their impact These inherited traits are shaped by complex epigenetic mechanisms, which regulate gene expression in response to environmental stressors like famines without altering the underlying DNA sequence. DNA methylation, a process involving the addition of small chemical groups to DNA, plays a crucial role in regulating gene expression. When a gene is 'on,' it is actively transcribed into messenger RNA (mRNA), resulting in the synthesis of proteins such as enzymes that regulate energy metabolism or hormones like insulin that manage blood sugar levels. Conversely, when a gene is 'off,' it is not transcribed, leading to a deficiency of these essential proteins. During periods of famine, increased DNA methylation can enhance the body's ability to conserve and store energy by altering the activity of metabolism-related genes. Epigenetic inheritance, a phenomenon where some epigenetic tags escape the usual reprogramming process and persist across generations, plays a crucial role in how famine-induced traits are passed down. Typically, reproductive cells undergo a reprogramming phase where most epigenetic tags are erased to reset the genetic blueprint. However, certain DNA methylation patterns can evade this erasure and remain attached to specific genes in the germ cells, the cells that develop into sperm and egg cells. These persistent modifications can influence gene expression in the next generation, affecting metabolic traits and responses to environmental stressors. This means the metabolic adaptations seen in famine survivors, such as increased fat storage and altered hormone levels, can be transmitted to their descendants, predisposing them to similar health risks. Research has highlighted how these inherited traits manifest in distinct hormone profiles across different ethnic groups. A study published in Diabetes Care found that South Asians had higher leptin levels (11.82 ng/mL) and lower adiponectin levels (9.35 µg/mL) compared to Europeans, whose leptin levels were 9.21 ng/mL and adiponectin levels were 12.96 µg/mL. Leptin, encoded by the LEP gene, is a hormone that reduces appetite and encourages fat storage. Adiponectin, encoded by the ADIPOQ gene, improves insulin sensitivity and supports fat metabolism. Epigenetic changes, such as DNA methylation in the LEP and ADIPOQ genes, have led to these imbalances which were advantageous for South Asian populations during times of famine. Elevated leptin levels helped ensure the body could maintain energy reserves for survival, while lower adiponectin levels slowed fat breakdown, preserving stored fat for future use. This energy-conservation mechanism allowed individuals to endure long periods of food scarcity. Remarkably, these epigenetic changes can be passed down to subsequent generations. As a result, descendants continue to exhibit these metabolic traits, even in the absence of famine conditions. This inherited imbalance—higher leptin levels and lower adiponectin—leads to a higher predisposition to metabolic disorders. Increased leptin levels can cause leptin resistance, where the body no longer responds properly to leptin’s signals, driving overeating and fat accumulation. Simultaneously, reduced adiponectin weakens the body’s ability to regulate insulin and break down fats efficiently, resulting in higher blood sugar levels and greater fat storage. These combined effects heighten the risk of obesity and Type 2 diabetes in South Asian populations today. Integrating cultural awareness in health strategies Understanding famine-induced epigenetic changes provides a compelling case for rethinking public health strategies in affected populations. While current medicine cannot reverse famine-induced epigenetic changes in South Asians, culturally tailored interventions and preventive measures are crucial to reducing metabolic risks. These should include personalised dietary plans, preventive screenings, and targeted healthcare programmes. For example, the Indian Diabetes Prevention Programme showed that lifestyle changes reduced diabetes risk by 28.5% among high-risk individuals. Equally, policymakers must consider the broader societal factors that contribute to these health risks, and qualitative studies highlight challenges in shifting cultural attitudes. Expectations that women prepare meals in line with traditional norms often limit healthier dietary options.Differing perceptions of physical activity can complicate efforts to promote healthier lifestyles. For example, a study in East London found that some communities consider prayer sufficient exercise, which adds complexity to changing attitudes. Facing our past to secure a healthier future As we uncover the long-term effects of environmental stressors like historical famines, it becomes clear that our past is not just a distant memory but an active force shaping our present and future health. Epigenetic changes inherited from South Asian ancestors who endured famine have heightened the risk of metabolic disorders in their descendants. For instance, UK South Asian men have been found to have nearly double the risk of coronary heart disease (CHD) compared to White Europeans. Consultant cardiologist Dr Sonya Babu-Narayan has stated, “Coronary heart disease is the world’s biggest killer and the most common cause of premature death in the UK.” With over 5 million South Asians in the UK alone, this stark reality requires immediate action. We must not only address the glaring gaps in scientific research but also develop targeted public health policies to tackle these inherited health risks. These traits are not relics of the past; they are living legacies that, without swift intervention, will continue to affect generations to come. To truly address the inherited health risks South Asians face, we must go beyond surface-level awareness and commit to long-term, systemic change. Increasing funding for research that directly focuses on the unique health challenges within this population is non-negotiable. Equally crucial are culturally tailored public health initiatives that resonate with the affected communities, alongside comprehensive education programmes that empower individuals to take control of their health. These steps are not just about improving outcomes—they’re about breaking a cycle. The question, therefore, is not simply whether we understand these epigenetic changes, but whether we have the resolve to confront their full implications. Can we muster the political will needed to confront these inherited risks? Can we unite our efforts to stop these risks from affecting the health of entire communities? The cost of inaction is not just measured in statistics—it will be felt in the lives lost and the potential unrealised. The time to act is now. Written by Naziba Sheikh Related articles: Epigenetics / Food deserts and malnutrition / Mental health in South Asian communities / Global health injustices- Kashmir , Bangladesh REFERENCES Safi, M. (2019). Churchill’s policies contributed to 1943 Bengal famine – study. [online] the Guardian. Available at: https://www.theguardian.com/world/2019/mar/29/winston-churchill-policies-contributed-to-1943-bengal-famine-study . Bakar, F. (2022). How History Still Weighs Heavy on South Asian Bodies Today. [online] HuffPost UK. Available at: https://www.huffingtonpost.co.uk/entry/south-asian-health-colonial-history_uk_620e74fee4b055057aac0e9f . Sayed, M., Deek, F. and Shaikh, A. (2022). The Susceptibility of South Asians to Cardiometabolic Disease as a Result of Starvation Adaptation Exacerbated During the Colonial Famines. [online] Research Gate. Available at: https://www.researchgate.net/publication/366596806_The_Susceptibility_of_South_Asians_to_Cardiometabolic_Disease_as_a_Result_of_Starvation_Adaptation_Exacerbated_During_the_Colonial_Famines#:~:text=This%20crisis%20could%20be%20the,adapted%20physiology%20can%20become%20harmful . Utah.edu . (2009). Epigenetics & Inheritance. [online] Available at: https://learn.genetics.utah.edu/content/epigenetics/inheritance/ . Palaniappan, L., Garg, A., Enas, E., Lewis, H., Bari, S., Gulati, M., Flores, C., Mathur, A., Molina, C., Narula, J., Rahman, S., Leng, J. and Gany, F. (2018). South Asian Cardiovascular Disease & Cancer Risk: Genetics & Pathophysiology. Journal of Community Health, 43(6), pp.1100–1114. doi: https://doi.org/10.1007/s10900-018-0527-8 . Diabetes UK (2022). Risk of Type 2 Diabetes in the South Asian Community. [online] Diabetes UK. Available at: https://www.diabetes.org.uk/node/12895 . King, M. (2024). South Asian Heritage Month: A Journey Through History and Culture . [online] Wearehomesforstudents.com . Available at: https://wearehomesforstudents.com/blog/south-asian-heritage-month-a-journey-through-history-and-culture . Project Gallery

Can CRISPR/Cas9 overcome the challenges posed by current HIV treatments? Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link A potential treatment for HIV 09/05/26, 14:38 Last updated: Published: 21/07/23, 10:50 Can CRISPR/Cas9 overcome the challenges posed by current HIV treatments? The human immunodeficiency virus (HIV) was recorded to affect 40.8 million people globally at the end of 2024. This virus attacks the immune system, incapacitating CD4 cells: white blood cells (WBCs) which play a vital role in activating the innate immune system and fighting infection. The normal range of CD4 cells in our body is from 500 to 1500 cells/mm3 of blood; HIV can rapidly deplete the CD4 count to dangerous levels, damaging the immune system and leaving the body highly susceptible to infections. Whilst antiretroviral therapy (ART) can help manage the virus by interfering with viral replication and helping the body manage the viral load, it fails to eliminate the virus altogether. The reason for this is due to the presence of latent viral reservoirs where HIV can lay dormant and reignite infection if ART is stopped. Whilst a cure has not yet been discovered, a promising avenue being explored in the hopes of eradicating HIV has been CRISPR/Cas9 technology. This highly precise gene-editing tool has been shown to have the ability to induce mutations at specific points in the HIV proviral DNA. Guide RNAs pinpoint the desired genome location and Cas9 nuclease enzymes act as molecular scissors that remove selected segments of DNA.  Therefore, CRISPR/Cas9 technology provides access to the viral genetic material integrated into the genome of infected cells, allowing researchers to cleave HIV genes from infected cells, clearing latent viral reservoirs. Furthermore, the CRISPR/Cas9 gene-editing tool can also prevent HIV from attacking the CD4 cells in the first place. HIV binds to the chemokine receptor, CCR5, expressed on CD4 cells, in order to enter the WBC. CRISPR/Cas9 can cleave the genes for the CCR5 receptor and therefore preventing the virus from entering and replicating inside CD4 cells. CRISPR/Cas9 technology provides a solution that current antiretroviral therapies cannot solve. Through gene-editing, researchers can dispel the lasting reservoirs unreachable by ART that HIV is able to establish in our bodies. Recent phase 1 and 2 trials for treatment involving CRISPR/ Cas9 (e.g. EBT-101-001) showed promising safety and efficacy, as CRISPR successfully targeted latent HIV in vivo. However, further research and clinical trials are still required to fully understand the safety and efficacy of this approach to treating HIV, before it can be implemented as a standard treatment. Written by Bisma Butt Related articles: Antiretroviral therapy / mRNA vaccines Project Gallery

Discussing an upcoming biotech thriller book Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link ‘The Molecule’ by Dr Rick Sax and Dr Marta New Last updated: 02/01/26, 18:11 Published: 08/01/26, 08:00 Discussing an upcoming biotech thriller book Science, to some extent, is very black and white. You carry out experiments; you analyse the data, and you could use numerous techniques to get results. Although there is a range of techniques you could use to analyse and interpret the data, if it has been carried out correctly, the results should be reproducible. 1 + 1 will always equal 2, a eukaryote will always have a nucleus, and pure water will always have a boiling point of 100ºC. Once again, science is entirely black and white. But after an hour of conversation on a cold London afternoon, this writer can conclude that the life of a scientist does not have to be as black and white as their research. This is confirmed by looking at the fascinating lives of Dr Marta New and Dr Rick Sax. Dr Marta New Dr. Marta New's career spans the intersection of science and business, beginning with her PhD in Microbiology and Immunology from the University of Illinois Chicago. Demonstrating her versatility, she pursued an MBA at Northwestern University's Kellogg School of Management just two years later. Recognizing her passion extended beyond academia, Dr. New ventured into the business world, where she has held various influential roles. Her career includes positions as a venture capitalist at ARCH Venture Partners, board observer for numerous biotech companies, and strategic advisor to pharmaceutical firms. Dr. New's expertise lies in translating scientific breakthroughs into viable business opportunities, particularly in the areas of drug discovery and development. Currently, she is the founder and CEO of Radyus Research, a company focused on accelerating drug discovery through innovative AI-powered platforms. In this role, Dr. New continues to drive innovation and strategic growth in the biotech and pharmaceutical sectors, leveraging her unique blend of scientific knowledge and business acumen. Dr Rick Sax Dr. Rick Sax is a distinguished figure in the pharmaceutical industry with over 30 years of experience in senior leadership positions. His career spans across major pharmaceutical companies, including Merck & Co. and AstraZeneca, where he held executive roles in clinical development. At Merck, Dr. Sax led cardiovascular drug development and served on key business strategy teams. At AstraZeneca, he took on various leadership positions, including Vice President for U.S. Clinical Research and roles in global Medical Sciences. Dr. Sax later joined Quintiles (IQVIA) as Senior Vice President for Integrated Clinical Services, where he played a crucial role in developing innovative approaches to clinical program design and drug development strategies. His expertise encompasses drug research and development, clinical program design, translational medicine, and the application of information technology in clinical research. Currently, Dr. Sax serves as an advisor to biotechnology startups and consulting firms, leveraging his extensive experience to improve pharmaceutical R&D efficiency and productivity. Through their amazing expertise they have joined hands to write a biotech thriller called the ‘The Molecule’. What is the inspiration behind the novel The Molecule ? Science thrives on curiosity, discovery, and the pursuit of knowledge, often driven by a passion to understand the unknown. On the other hand, business is fueled by profit, efficiency, and the drive to deliver tangible results in the shortest possible time. The challenges can be immense in the biotech industry, where these two worlds must collide. Transforming a scientific breakthrough into a marketable product requires more than just innovation; it demands strategic thinking, financial acumen, and a deep understanding of the regulatory environment. The journey from lab bench to market shelf is fraught with obstacles, including securing funding, navigating complex regulations, and managing stakeholders' expectations with very different goals. In their new novel, The Molecule , authors Rick Sax and Marta New delve into the intricate world of drug development, breaking the conventional notion that this process is solely the domain of academia. The book explores the multifaceted journey of a startup company navigating the complex path of science, regulation, and industry. When asked about the inspiration behind the book, Rick and Marta emphasised their desire to shed light on the complex interplay between scientific innovation and the financial forces that drive it. They wanted to illustrate that drug development is a scientific endeavour and a battleground where researchers, regulators, and industry professionals often find themselves at odds. While The Molecule is a work of fiction, it brings a deep emotional resonance. The authors were keen to portray the technical challenges of developing a new drug and the human element—the hopes, fears, and sacrifices of those involved. Rick and Marta crafted a narrative that captures the struggles and triumphs, emphasising the complex journey of bringing a new drug to market. The book goes beyond the laboratory, vividly depicting the stages a startup company must navigate to succeed. It paints a realistic picture of the hurdles and setbacks often encountered along the way, making it a compelling read for anyone interested in the intersection of science, business, and human emotion. This biotech thriller also serves as a reminder that the fusion of science and business, though complex, is essential for driving progress and bringing life-changing innovations to the world. What is the drug development process, and what are the challenges? As mentioned, drug development is a long, arduous, and multifaceted journey. A journey that, in reality, is not limited to academia or clinical research. We must remember that drug development translates an idea into a drug in the market, a process that spans more than simple laboratory experiments. The book The Molecule gives us a glimpse of this process. As it turns out, there is a lot more that happens even before clinical trials begin. Unsurprisingly, the process of drug development began before "development". Instead, it starts as drug "discovery". Here, scientists wear their thinking hats to try and understand a disease, hoping to discover new insights or technologies that provide an approach to treatment. As Marta neatly outlined, scientists at this stage are surrounded by numerous questions, such as the drug's mechanism of action, how it works, etc. However, this discovery is not a finished product but rather a technology. Different questions must be asked to translate a fresh-off-the-lab technology into a marketable drug. Namely, "Is it safe and is it efficacious?" Next, the drug development journey will continue into the preclinical stage. Those who work in preclinical drug development may be familiar with the abundance of cell cultures and animal models used in this stage. Indeed, the preclinical stage often follows either or both in vitro and in vivo testing. Marta also highlighted another key factor, reproducibility. Crucially, a reproducible study refers to a repeated study done under different conditions or parameters and by other researchers where the results or analyses are the same or in agreement. Any study can be vulnerable to biases. Therefore, a reproducible study ensures fair, correct, and trustworthy results that allow scientists the confidence that the drug is safe before it enters clinical trials. Furthermore, testing the potential drug with a "standard of care" is equally essential. This means testing the candidate against an existing drug for the same disease. The process seeks to observe efficacy, whether the experimental drug is more efficacious than an already marketed drug. In other words, if the drug is working. As you can see, much work must be done before drug development reaches human testing. Preclinical studies may vary in size, but they are crucial in defining how safe the drug is before it is tested on people. Therefore, Rick and Marta emphasise that the preclinical stage must follow good practice and the correct guidelines, collecting data to paint a detailed pict ure before being given to the regulatory bodies. Upon the success of preclinical research and the approval of human testing by the regulatory bodies, a process that can take up to 5 years, we finally arrive at clinical trials. In short, clinical trials will further test the candidate drug on human subjects for safety and efficacy, dosage, side effects, and adverse reactions. As the trial progresses, the group size of each phase also increases, and as the number of human subjects increases, so does the cost. Rick and Marta explained that labs or smaller companies will usually carry out the preclinical research, but will search for larger pharmaceutical companies as partners to continue clinical trials. The drug development process is complex and concerns a multidisciplinary team of scientists, corporate partners, and regulatory bodies. However, this process is necessary to create a safe and effective drug that can change lives. Many science and STEM students gravitate only towards science and their respective passionate fields and, unfortunately, tend to find business intimidating. So, what would be your advice for these students to begin learning more about the business side of STEM and building their own start-up? The ideal way to answer this question is to consider it in two different parts: exploring a new passion (the world of business) and the advice to learn more. In many ways, one may always feel the vulnerability of exploring the unknown. Perhaps that is why we live following our passions: there is a certain security in their reliability and certainty for enjoyment and happiness. A safety blanket, so to speak. However, this very blanket could be the culprit that slowly suffocates all possibilities of growth, keeping you safe, secure, and immovable. By reading through their novel, The Molecule , and doing a Google search of these two writers' incredible lives, any reader can surely understand how to grow in pharmacology; there needs to be a specific element of business. Of course, for many, the thought of entering the clutches of the world of business, a world of numbers, negotiations, and a lack of laboratory equipment and sterilisation, might seem daunting. However, it is essential for any reader to understand that if they wish to enter the world of drug development, they will not find this door in academia. Instead, the key to drug development is built when different skill sets, areas of knowledge, and technical expertise come together through the work of a multipurpose team. This delicate and intricate process centres on the team, a team that requires multiple disciplines to work in harmony and in an environment where creativity may flourish. However, how can one go from understanding the importance of business in drug development to taking the first steps into this new, terrifying, and exhilarating world? The simple answer to this is explored in The Molecule . To succeed in the unknown, one must find a good mentor. Someone you truly believe in to show you the way. Of course, there should always be some caution in ensuring the right mentor is found. However, this should not hinder any keen reader from trying, as every experience can be an opportunity for growth. Furthermore, there are many positive stories of successful mentorships, as seen through Dr Sax’s personal experience. In the beginning, like many in STEM, he considered pharmacology “the dark side”. At the time, he worked at Cornell University Medical Centre, living the life many could only dream of. He spent his days working as a triple blend between a physician, a researcher, and a teacher – his passions. When first approached by a mentor on the possibility of pharmacology, a scene was conjured. A scene that showed the fiery pits of hell with the personification of pharmacology itself as a fearful villain pushing one into damnation. However, the support and encouragement from this mentor were the tiny pushes that convinced him to try, leading him to where he is today. There are many ways to find these mentors. Through academia, students can take advantage of programs such as hosting entrepreneurial activities, wet labs, organised panels, and events, such as “speak to a member of the industry”. Even exploring master programs in drug development could be a step forward in matching a student with potential mentors. Moreover, outside of the academic halls, there are many opportunities to form connections. By browsing LinkedIn groups, forums, and Reddit posts, you can find your people and see their steps. Following Dr. New’s humbling words, “It is important for students to remember they are not the first in the history of civilisation to think of entrepreneurship, and it is online where they can find signatures of the work others have done". "Your people" will be the ones that share your confusion, fear, perhaps lack of expertise, love for adrenaline, and a good challenge. Once you find them, everything will start flowing. Furthermore, consider how the real world works: if you want something, you need to go get it, be it with cold reach outs into the unknown and follow-up emails. On average, it takes 6 follow-up emails until someone replies to you. Hence, whatever you are doing, selling, or asking, do it 6 times before you give up. What vision do you see for the future of the biotechnology industry? When posed this question, both Fredrick and Marta conveyed that the future of biotechnology is heavily unpredictable, primarily due to the variability in the success of biotech startups. Moreover, one significant factor influencing this unpredictability is the funding which these firms receive. However, the changes in focus to new trends in biotechnology show great promise for how this large industry may grow and develop. For instance, a new trend is the considerable focus on rare diseases and targeted therapies for specific mutations such as the ALMK-14 mutation in lung cancer. There is also a significant focus on looking at disease subcategories and honing in on the specific type of disease. For example, instead of broadly targeting lung cancer, there is a trend towards addressing specific forms such as small cell lung cancer and non-small cell lung cancer. This precise approach aims to focus on specific characteristics of each disease’s subtype, for example, some forms of lung cancer may be more aggressive than others. Moreover, both Marta and Richard both highlighted the intertwining of biotechnology with other fields, specifically artificial intelligence (AI). An interesting example of this is utilising AI to develop targeted therapies for molecular markers of disease which may have been identified by lab techniques such as Next Generation Sequencing (NGS). Finally, the industry encompasses a wide range of professions from smaller pharmaceutical companies to larger pharmaceutical firms each with different focuses. Due to these varied focuses, the industry will likely develop and progress in diverse ways, reflecting the various aims of these firms. This diversity further reinforces the unpredictability of the industry’s future but also makes it an interesting field to watch. A massive thank you to Nick Johnstone for giving Scientia News this opportunity; it means a lot. We have learnt so many new things and it has been very inspiring talking to Rick and Marta. For more information, visit the following hyperlinks: Dr Rick Sax ( research ) Dr Marta New Nick Johnstone ( author ) Written by Inês Couto André, Jeevana Thavarajah, Stephanus Steven & Harene Elayathamby Related book reviews: Intern Blue , The Emperor of All Maladies Project Gallery

AI can process data sets and identify patterns and biomarkers Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link AI: the next step in diagnosis and treatment of genetic diseases 08/07/25, 17:19 Last updated: Published: 23/03/24, 17:59 AI can process data sets and identify patterns and biomarkers With the development of more intricate Artificial Intelligence (AI) software, which has rapidly grown from the chaotic chatbots to the more well-formed ChatGPT, it is easy to think we are seeing the rise of powerful artificial intelligence that could potentially replace us all. However, there is one problem. Originality does not exist for AI, at least not complete originality. At its most basic, an AI program is trained on a set of data, whether this be an entire search engine’s worth of data, as is the case for ChatGPT, or a few images and phrases gathered from the internet. Therefore, an AI does not know any more than what it can quote or infer from the provided data, which means that a piece of art, a picture of a family, or any short story AI is asked to produce is often a replica of techniques or a chaotic and terrifying mess of images it has been given to use. However, here also lies its strength. AI can take in thousands of images and data sets and notice minor changes and differences the average person could not. It is, therefore, not AI’s ability to create the unique, but instead its ability to recognise the mundane that we can utilise, even in diagnosing and treating genetic disorders. Diagnosis By analysing PET, MRI, fMRI and genetic data, AI can process enormous data sets and identify subtle patterns and biomarkers that often elude human observations, enabling earlier and more precise diagnosis. When looking at examples of the application of AI in the diagnosis of genetic disorders, a good reference is the so-far successful use of AI in diagnosing Huntington’s disease. Huntington’s disease diagnosis using AI Huntington’s disease symptoms present as patients experience involuntary movements and a decline in decision-making processes. Huntington's disease is a genetic disorder, meaning it is caused by a faulty gene, in this case, a fault in the Huntingtin gene (Htt). The Huntington’s disease mutation in Htt results from CAG trinucleotide repeats, a highly polymorphic expansion of Htt consisting of the CAG (cytosine, adenine, guanine) nucleotides (DNA building blocks). Whilst CAG repeats are common and often normal and unharmful, individuals with Huntington’s disease possess an abnormally high number of these CAG repeats (more than 36). When an individual has an abnormally high number of CAG repeats, their Htt proteins do not fold into their proper shape, causing them to bond with other proteins and become toxic to a cell, which ultimately causes cell death in crucial medium spiny neurons (MSN) in the basal ganglia. Basal ganglia are brain structures responsible for the fine-tuning of our motor processes, which they do by essentially allowing neurons to respond in a preferred direction (a target muscle) rather than a null direction using MSNs. So, it is clear how Huntington's disease symptoms occur; mutant Htt leads to cell death in MSNs, leading to the basal ganglia’s inability to control movement, which causes characteristic involuntary behaviours, among other symptoms. Because we identified these changes in Htt and loss of MSN in the basal ganglia, PET, MRI, and fMRI scans are often used in the diagnosis of Huntington’s disease, in addition to genetic and mobility tests. By collecting and extracting clinical and genetic data, certain AI algorithms can analyse the broad range of Huntington’s disease clinical manifestations, identify differences, including even minute changes in the basal ganglia that a doctor may not have, and make an earlier diagnosis. One branch of AI that has proved effective is machine learning. Machine learning models in diagnosis Machine learning uses data and algorithms to imitate the way humans learn. For Huntington's disease diagnosis, this involves the identification of biomarkers and patterns in medical images, gene studies and mobility tests, and detecting subtle changes between data sets, distinguishing Huntington’s disease patients from healthy controls. While machine learning in Huntington’s disease diagnosis comes in many forms, the decision tree model, where the AI uses a decision tree as illustrated in the Project Gallery, has proven very effective. A decision tree model looks at decisions and their possible consequences and breaks them into subsets branching downward, going from decision to effect. Recent research using AI in Huntington’s disease diagnosis has utilised this model to analyse gait dynamics data. This data looks at variation in stride length, how unsteady a person is while walking, and the degree to which one stride interval (the time between strides) differs from any previous and any subsequent strides. For an individual, it is widely accepted that if they have abnormal variations in stride (their walking speed is reduced, their stance is widened), then they are exhibiting symptoms of Huntington’s disease. Therefore, by using this gait data, and having the machine learning model come up with a mean value for stride variation for trial patients, it will be able to discern which patients have stride variation associated with Huntington’s disease (a higher variation in stride) and those that do not. Researchers found that using this method of diagnosis, they were able to accurately identify which gaits belonged to Huntington's disease patients, with an accuracy of up to 100%. Furthermore, researchers also found decision tree models useful when identifying whether a gene links with Huntington’s disease when comparing patients' genetic information with prefrontal cortex samples, with this method’s accuracy being 90.79%. With these results and even more models showing incredible promise, AI is already proving itself useful when it comes to identifying and diagnosing sufferers of genetic disorders, such as those with Huntington’s disease. But this leads us to ask, can AI even help in the treatment of those suffering from genetic disorders? Treatment- current studies in cystic fibrosis While AI models can be applied diagnostically for disorders such as Huntington's disease, they may also be relied upon in disease treatment. The use of AI in tailored treatment is the focus of current research, with one even looking at improving the lives of those suffering from cystic fibrosis. Around 10,800 people are recorded as having cystic fibrosis in the UK, and this debilitating disorder results in a buildup of thick mucus, leading to persistent infections and other organ complications. The most common cause of cystic fibrosis is a mutation in the gene coding for the protein CFTR, resulting from a deletion in its coding gene, causing improper folding in the protein CFTR, as we saw in Huntington’s disease. This misfolding leads to its retention in the wrong place in a cell, so it can no longer maintain a balance of salt and water on body surfaces. Because of the complex symptoms arising from this imbalance, this disease is very difficult to manage, but there is hope, and hope comes as SmartCare. SmartCare involved home monitoring and followed 150 people with cystic fibrosis for six months, having them monitor their lung function, pulse, oxygen saturation and general wellness and upload recorded data to an app. Subsequently, researchers at the University of Cambridge used machine learning to create a predictive algorithm that used this lung, pulse, and oxygen saturation data, identifying patterns that were associated with a decline in a patient's condition, and then predicted this decline much faster than the patient of their doctor could. On average, this model could predict a decline in patient condition 11 days earlier than when the patient would typically start antibiotics, allowing health providers to respond quicker and patients to feel less restricted by their health. This project was, in fact, so successful that the US CF Foundation is now supporting a clinical implementation study, called Breath, which began in 2019 and continues to this day. Although there is a long way to go, using AI, the future can seem brighter. In Huntington’s disease and cystic fibrosis, we can see its effectiveness in both disease diagnosis and treatment. With the usage of AI predicted to increase in the future, there is a great outlook for patients and an opportunity for greater quality of care. This ultimately could ease patient suffering and prevent patient deaths. All this positive research tells us AI is our friend (although science fiction would often persuade us otherwise), and it will guide us through the tricky diagnosis and treatment of our most challenging diseases, even those engrained in our DNA. Written by Faye Boswell Related articles: AI in drug discovery / Can a human brain be linked to a computer? / AI in medicinal chemistry Project Gallery