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- Are hydrogen cars the future of the UK? | Scientia News
Hydrogen fuel cells generate electricity through an electrochemical reaction between hydrogen and oxygen Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Are hydrogen cars the future of the UK? 09/07/25, 10:53 Last updated: Published: 01/01/25, 13:50 Hydrogen fuel cells generate electricity through an electrochemical reaction between hydrogen and oxygen Introduction With the London debut of the first ever hydrogen powered racing car in June 2024, the new off-road racing series, Extreme H, is set to make waves in the motorsport and sustainability industries with its first season in 2025. The first ever hydrogen powered motorsport series was announced in 2022 to replace the carbon-neutral electric racing series Extreme E, with the intention of pioneering the potential of hydrogen fuel cells and diversifying the paths of sustainable mobility. Like its predecessor, Extreme H will continue to race off-road in a spec SUV car, where engineers and machinists from competing teams optimise the SUV for the different range of terrains and topographies. The hydrogen spec SUV, fittingly called the Pioneer 25 ( Figure 1 ), is promising for the rapid advancement of hydrogen fuel research, leading to the integration of hydrogen fuel cells vehicles on local roads. In line with the upcoming ban on the sale of new petrol, diesel, and hybrid cars across the UK in 2035, as well as the UK target of reaching carbon neutral by 2050, the need for sustainable and practical transport options is growing. So far however, electric cars have proved to not be a one-size-fits-all solution. Hydrogen fuel could potentially be the key to filling this gap. EVs vs. HFCVs Working mechanisms Hydrogen Fuel Cell Vehicles (HFCVs): Hydrogen fuel cells generate electricity through an electrochemical reaction between hydrogen and oxygen. The electricity produced is used to power an electric motor, which drives the car. The only byproduct of this process is water vapour. Electric Vehicles (EVs): A motor is powered directly from a charged battery, and equally produces no harmful emissions. As a result of large investments, electric vehicles have already established a strong footing in the UK market, prompting the declining cost of batteries as well as increasing availability of EV charging points in the UK. However, for many households and commercial uses, electric vehicles are not accessible forms of transport due to key barriers including the extensive charging time (around 8 hours), the weight of batteries for large vehicles, and performance decline in cold weather due to lithium-ion batteries being highly sensitive to temperature. HFCVs directly address these problems and present a sustainable and competitive alternative. As the refuelling process is the same as petrol and diesel cars, fuel tanks can be filled in the space of a few minutes and are notably weight efficient. A heavy-duty electric vehicle on the other hand can require a battery of around 7000 kg. Advantages of HFCVs: Significantly shorter refuelling times Can achieve 300-400 miles on a full tank Maintain performance in cold weather and under heavy loads Lighter and more energy-dense than electric vehicles Disadvantages: Expensive as they’re not yet widely available Lack of refuelling infrastructure The current primary method of hydrogen production produces CO2 as a byproduct Despite the key advantages hydrogen cars offer, there are currently only 2 available models of HFC cars in the UK, including the Toyota Mirai ( Figure 2 ) and the Hyundai Nexo SUV. As a result, there are currently fewer than 20 refuelling stations available nationwide, compared to the many thousands of charging points available across the country for electric vehicles. One of the main reasons why progress in hydrogen fuel production has been so delayed is because hydrogen, despite being the most abundant element in the universe, is only available on earth in compound form and needs to be extracted using chemical processes. The true sustainability of hydrogen production There are currently two main methods to extract hydrogen from nature, including steam-methane reforming and electrolysis. Hydrogen is colour-graded by production method to indicate whether it is renewable. Green/ yellow hydrogen The cleanest process for hydrogen production is electrolysis, where a current separates hydrogen from pure water. If the current is sourced from renewable energy, it’s known as green hydrogen. If it’s connected via the grid, then it’s called yellow hydrogen. The source of electricity is particularly important because the electrolysis process is about 75% efficient, which translates to higher costs yet cleaner air. Grey/ blue hydrogen Hydrogen can also be produced by treating natural gas or methane with hot steam. During this process, the methane splits into its four hydrogen atoms while one carbon atom bonds to oxygen and enters the atmosphere as carbon dioxide. This is known as grey hydrogen. If the carbon dioxide can be captured and stored via direct air capture, it’s called blue hydrogen. About 95% of all hydrogen in Europe is produced by methane steam reforming (grey and blue hydrogen), as it is very energy efficient and uses up lots of natural gas in the process, a resource that is quickly diminishing in importance and value as more and more households switch from gas boilers to heat pumps. Two percent of the world’s carbon emissions comes from the grey hydrogen process to produce ammonia for fertiliser and for steel production. For context, this is almost the same as the entire aviation industry. For HFCVs to be a truly sustainable alternative to combustion engines, green hydrogen via electrolysis (or another clean process) needs to be more widely available and economically viable. The UK’s plans for hydrogen As part of the UK hydrogen strategy ( Figure 3 ), the UK aims to reach up to 10GW or low carbon hydrogen production by 2030 (or equivalent to the amount of gas consumed by 3 million households in the UK annually). The government has allocated £240 million to develop hydrogen production and infrastructure. This is particularly for industry uses in the production of steel and cement, and for heavy goods vehicles (HGVs). Plans were also made to extend the use of hydrogen to heat homes, starting with ‘hydrogen village trials’ in 2025, to inform how 100% hydrogen communities would work, although this has understandably been met with local opposition. With greater research, information, and development into hydrogen for domestic uses, the applications of hydrogen energy may extend from industry and transport to households. As car companies (particularly Toyota, Hyundai, and BMW) continue to develop hydrogen car makes, and further investment is made into increased refuelling infrastructure and hydrogen fuel cell research, as well as with the ban on the sale of new combustion engine cars by 2035, commercial hydrogen cars have the potential to be commonly found on UK roads by 2040. Conclusion For now, HFCVs remain in the early stages of development, however they present a promising opportunity for the UK to diversify its clean transport options, particularly in areas where EV technology faces limitations such as for heavy goods vehicles. Rather than being competitors, it is likely that EVs and HFCVs will soon coexist, with each technology serving different needs. The biggest barrier to the progress of HFCVs currently is developing a full hydrogen refuelling infrastructure, where the gas is produced and then transported to stations across the nation, will take billions of pounds and a number of years to develop. If these initial hurdles could be overcome, HFCV technology can quickly become more practically and financially accessible. Written by Varuna Ganeshamoorthy Related articles: Electric vehicles / Nuclear fusion Project Gallery
- The Foremothers of Gynaecology | Scientia News
Lucy, Betsy, and Anarcha Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link The Foremothers of Gynaecology 10/07/25, 10:18 Last updated: Published: 05/03/24, 12:15 Lucy, Betsy, and Anarcha In collaboration with Dr Aakila Sammy from Publett for International Women's Month We have honoured remarkable women in science across the centuries. From Marie Curie's pioneering research on radioactivity in the 1800s to Henrietta Lacks's unintentional contribution to immortalised human cell lines in the 1900s and Rosalind Franklin's crucial work on the structure of DNA. Yet, even as their achievements shine, the names of their male counterparts, like Watson and Crick, often dominate the narrative. Let's journey back a century or two. Were the experiences of Lucy, Betsy, and Anarcha, the foremothers of gynaecology, similar? In the 19th century, Dr. James Marion Sims was celebrated as a surgical hero and the father of gynaecology. His fame stemmed from pioneering the first reliable surgery to treat vesicovaginal fistula, a severe childbirth complication causing a hole between a woman's bladder and vagina, leading to continuous urinary leakage and sometimes palliative care. Sims conducted his initial attempts at a small hospital behind his home in Montgomery, Alabama, focusing on enslaved African American women whom he housed. Over several years, he performed numerous operations on these women. Historical records indicate that 12 enslaved women underwent experimentation, with only three identified by name: Lucy, Betsy, and Anarcha. While Sims did treat white women, indicating a universal need for treatment, he probably began experimenting with black women first. Unfortunately, many records were destroyed after slavery ended, obscuring our understanding of these events. Consequently, many who suffered or displayed bravery may not receive proper historical recognition. But we're about to change that here! Slave owners often viewed enslaved women as valuable assets due to their potential to increase the slave population and, thus, the owner's wealth through labour. However, when complications arose during childbirth, rendering these women unable to work, slave owners sought alternative means to cover medical expenses and maintain profitability. This often involved leasing them to physicians like Sims for medical experimentation and treatment. Additionally, enslaved women who experienced complications during childbirth were often ostracised by their communities and left with no choice but to comply with the demands of their owners. While on lease, these teenage girls aged 17 to 19 worked for the Sims family and were subjected to experimentation, naked and restrained in front of an audience of male doctors. Lucy was the first of the three women to undergo Sims's experimental operation and remained conscious throughout the entire hour-long surgery. Post-surgery, Lucy developed an infection, and even though Sims was able to cure her infection, her injuries did not heal, which rendered the operation a failure. Betsy was operated on next with the same outcome minus the infection. Anarcha, operated on last, had the same results, but this did not stop Sims. Sims persisted in his experiments, even when his male assistants quit. He eventually trained the women to assist each other during surgeries, and over time, they became proficient enough to be considered medical practitioners in their own right. The turning point came after Anarcha's 30th surgery, where success was finally achieved. However, shortly afterwards, Sims closed his hospital and relocated north. The fate of the women after this point is noted as being returned to their masters, indicating the continued exploitation and oppression they faced despite their contributions to medical science. While Sims's legacy indeed sparks ethical concerns about consent, anaesthesia, and racism, it's vital to recognise the dire circumstances faced by the women he treated and their significant contributions to his work. Despite the troubling context of slavery, characterised by ambiguous consent, potential underuse of anaesthesia, and the enduring belief that black women could endure more pain (a misconception that persists in healthcare today), these women sought relief from their suffering. Or was it their slave owners who sought to protect their investment? In addition to recognising the systemic exploitation and dehumanisation suffered by enslaved individuals, it is important to celebrate the resilience and bravery of these women, who played a crucial role in advancing gynaecological understanding and techniques. Now, just a mile from the remaining Sims statue stands another monument honouring the true mothers of gynaecology: Lucy, Betsy, and Anarcha (by the artist and activist Michelle Browder). These teenagers played a profound role in shaping the field. It's imperative that we shift the narrative to acknowledge them as our foremothers in gynaecology when recounting this history. Their names deserve a place in the textbooks as well. -- Scientia News wholeheartedly thanks Aakila Sammy , co-founder and CEO of Publett , for this interesting article on the pioneering individuals in the field of gynaecology. We hope you enjoyed reading this International Women's Month Special piece! Follow them @Dr.Publett on Instagram and @Publett Limited on Linkedin for more information. -- Our last collaboration: Micro-chimerism and George Floyd's death Related articles: Female Nobel prize winners in physics and in chemistry / African-American women in cancer research / Women leading the charge in biomedical engineering / Endometriosis and PCOS / Postpartum depression in adolescent mothers REFERENCES National Library of Medicine. "Vesicovaginal fistula was a catastrophic complication of childbirth for many enslaved women between 1845 and 1849." Accessed 28th February 2024. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563360/#:~:text=Vesicovaginal%20fistula%20was%20a%20catastrophic,women%20between%201845%20and%201849 . ProQuest. "Anarcha, Betsey, and Lucy: The Mothers of Modern Gynecology."Accessed 28th February 2024. https://www.proquest.com/openview/a02db7be4c84ed0066ed13e79513b6ad/1?pq-origsite=gscholar&cbl=41361 . Smithsonian Magazine. "A monument honouring enslaved women, known as the 'Mothers of Gynecology' has been erected."Accessed 28th February 2024. https://www.smithsonianmag.com/smart-news/mothers-of-gynecology-monument-honors-enslaved-women-180980064/ New York Historical Society. "To learn more about Anarcha, Betsey, and Lucy, visit the New York Historical Society's online exhibit, 'A Nation Divided: The Civil War Era"'.Accessed 28th February 2024. https://wams.nyhistory.org/a-nation-divided/antebellum/anarcha-betsy-lucy/ . Project Gallery
- Chirality in drugs | Scientia News
Why chirality is important in developing drugs Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Chirality in drugs 04/02/25, 15:50 Last updated: Published: 06/06/23, 16:53 Why chirality is important in developing drugs Nearly 90% of the drugs currently on the market are racemates, which are composed of an equimolar mixture of two enantiomers, and approximately half of all drugs are chiral compounds. Chirality is the quality of an item that prevents it from superimposing on its mirror counterpart, similar to left and right hands. Chirality, a generic characteristic of "handedness,"plays a significant role in the creation of several pharmaceutical drugs. It's interesting to note that 20 of the 35 drugs the Food and Drug Administration (FDA) authorised in 2020 are chiral drugs. For example, Ibuprofen, a chiral 2-aryl propionic acid derivative, is a common over-the-counter analgesic, antipyretic, and anti-inflammatory medication. However, Ibuprofen and other medications from similar families can have side effects and risks related to their usage. Drugs of the chiral class have the drawback that only one of the two enantiomers may be active, while the other may be ineffective or have some negative effects. The inactive enantiomer can occasionally interact with the active enantiomer, lowering its potency or producing undesirable side effects. Additionally, Ibuprofen and other members of the chiral family of pharmaceuticals can interact with other drugs, including over-the-counter and prescription ones. To guarantee that only the active enantiomer is present in chiral-class medications, it is crucial for pharmaceutical companies to closely monitor their production and distribution processes. Lessening the toxicity or adverse effects linked to the inactive enantiomer, medical chemistry has recently seen an increase in the use of enantiomerically pure drugs. In any instance, the choice of whether to utilise a single enantiomer or a combination of enantiomers of a certain medicine should be based on clinical trial results and clinical competence. In addition to requests to determine and control the enantiomeric purity of the enantiomers from a racemic mixture, the use of single enantiomer drugs may result in simpler and more selective pharmacological profiles, improved therapeutic indices, simpler pharmacokinetics, and fewer drug interactions. Although, there have been instances where the wrong enantiomer results in unintended side effects, many medications are still used today as racemates with their associated side effects; this issue is probably brought on by both the difficulty of the chiral separation technique and the high cost of production. In conclusion, Ibuprofen and other medications in the chiral family, including those used to treat pain and inflammation, can be useful, but they also include a number of dangers and adverse effects. It's critical to follow a doctor's instructions when using these medications and to be aware of any possible interactions, allergic reactions, and other hazards. To maintain the security and efficacy of medicines in the chiral class, pharma producers also have a duty to closely monitor their creation and distribution. Written by Navnidhi Sharma Project Gallery
- Cryptosporidium: bridging local outbreaks to global health disparities | Scientia News
Investigating the outbreak in Devon, UK in May 2024 Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Cryptosporidium: bridging local outbreaks to global health disparities 20/03/25, 12:06 Last updated: Published: 01/09/24, 12:50 Investigating the outbreak in Devon, UK in May 2024 In early May, news emerged of numerous Devon (UK) residents experiencing vomiting and diarrhoea. Majorly affecting the Brixham region, over 40 people were diagnosed with cryptosporidiosis, and over 16,000 homes were advised to boil water before consuming it to kill potential pathogens ( Figure 1 ). Despite a controversial handling of the situation from South West Water (SWW) (from initial denial of the ‘crisis’, to major profit increases for the company), the outbreak was eventually linked to a broken pipe from where animal faeces could have entered, contaminating the water supply, a SWW representative suggested. In this article, we will investigate the disease and its relevance worldwide. So, what is Cryptosporidiosis? Cryptosporidiosis is commonly associated with gastrointestinal symptoms, such as vomiting, diarrhoea and severe abdominal cramps. It is caused by cryptosporidium, from the Apicocomplexa family. This microorganism is an intra-cellular gut parasite which invades the microvilli in the gut and depletes host nutrients. The parasite is spread via faecal-oral transmission, and it is commonly found in contaminated water, food and animals. Its life cycle starts with oocyst (egg) ingestion, leading to attachment to host gut epithelia, and asexual reproduction. This allows sexual reproduction to ensue, and oocyst formation. Eventually, the oocysts are released via faeces, for the cycle of infection to continue. Cryptosporidium species are often identified by the immune system via Toll-Like Receptors, specifically TLR-4, in the gut epithelia; Cryptosporidium-derived molecules are treated as TLR-4 ligands, since the microbe does not produce LPS molecules. Adaptive immune signalling pathways, such as NF-kB, are triggered, encouraging IL-8, CXCL1 and other chemokine secretion from the gut ( Figure 2 ). Consequently, gut inflammation is increased, as well as levels of Intracellular Adhesion Molecule-1 (ICAM-1), to aid immunocyte recruitment and improve pathogenic clearance. Other mechanisms the epithelial barrier uses to eliminate cryptosporidium infection include NO secretion and mucin production, to kill the pathogen, and prevent further infection by blocking extracellular oocyst binding, respectively. In some individuals, cryptosporidium can evade immune response due to its intracellular nature. Most immunocompetent patients suffer mild symptoms and so are offered symptomatic treatment, but some immunocompromised patients (those with HIV, for example) can develop chronic diarrhoea as a result of cryptosporidium infection. In this instance, managing fluid loss and rest is often insufficient; these patients are prescribed nitazoxanide, a broad-spectrum antiparasitic, to manage their diarrhoea. Cryptosporidiosis on a global scale Although controversial, the management of the cryptosporidium ‘crisis’ in Devon was resolved relatively quickly compared to outbreaks in other countries ( Figure 3 ). There are clear links between socio-economic dynamics and water-borne illness prevalence. In some developing regions, such as areas in the Middle East and North Africa (MENA), cryptosporidiosis is considered endemic, due to poor quality water-sanitation centres, rapid population growth and inadequate potable water supply. Globally, 3.4 million people die each year from water-borne illnesses - and poor sanitation ranks higher in causes of human morbidity than war and terrorism. Additionally, in 2015, cryptosporidium was the fourth leading cause of death amongst children under 5, clearly highlighting the danger this parasite can cause. For children in developing countries, who are already predisposed to starvation, cryptosporidiosis can kick-start a malnutrition cycle. Here, cryptosporidium exacerbates host malnutrition due to its parasitic nature, potentially causing cognitive impairment and growth stunting. Cryptosporidiosis, although typically mild, can be devastating for some people (the immunocompromised and young children). Particularly, those who are malnourished can suffer severe effects. The water contamination in Devon (UK), handled by SWW, was unfortunate and many in the region experienced severe illness. Globally, cryptosporidiosis is a major problem and in some regions, it is considered endemic. Thus, it is important we spread awareness of the devastating effects of this disease, continue efforts to prevent transmission and strive for eradication. Written by Eloise Nelson REFERENCES Abuseir, S. (2023) ‘A systematic review of frequency and geographic distribution of water-borne parasites in the Middle East and North Africa’, Eastern Mediterranean Health Journal , 29(2), pp. 151–161. doi:10.26719/emhj.23.016. Chalmers, R.M., Davies, A.P. and Tyler, K. (2019) ‘Cryptosporidium’, Microbiology , 165(5), pp. 500–502. doi:10.1099/mic.0.000764. Hassan, E.M. et al. (2020) ‘A review of cryptosporidium spp. and their detection in water’, Water Science and Technology , 83(1), pp. 1–25. doi:10.2166/wst.2020.515. News, S. (2024) ‘Brixham: More than 50 people in Devon ill from contaminated water - as South West Water’s owner posts £166m profit’, Sky News , 21 May. Available at: https://news.sky.com/story/brixham-more-than-50-people-in-devon-ill-from-contaminated-water-as-south-west-waters-owner-posts-166m-profit-13140820#:~:text=More%20than%2050%20cases%20of,water%2C%20health%20bosses%20have%20said . Sparks, H. et al. (2015) ‘Treatment of cryptosporidium: What we know, gaps, and the way forward’, Current Tropical Medicine Reports , 2(3), pp. 181–187. doi:10.1007/s40475-015-0056-9. Caccio SM. Cryptosporidium : parasite and disease, Immunology of Cryptosporidiosis. Springer Verlag Gmbh; 2016. Project Gallery
- Germline gene therapy (GGT): its potential and problems | Scientia News
A Scientia News Biology and Genetics collaboration Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Germline gene therapy (GGT): its potential and problems 09/07/25, 14:14 Last updated: Published: 21/01/24, 11:47 A Scientia News Biology and Genetics collaboration Introduction Genetic diseases arise when there are alterations or mutations to genes or genomes. In most acquired cases, mutations occur in somatic cells. However, when these mutations happen in germline cells (i.e. sperm and egg cells), they are incorporated into the genome of every cell. In other words, should this mutation be deleterious, all cells will have this issue. Furthermore, this mutation becomes inheritable. This is partly why most genetic diseases are complicated to treat and cure. Gene therapy is a concept that has been circulating among geneticists for some time. Indeed, addressing a disease directly from the genes that caused or promoted it has been an attractive and appealing avenue of therapies. The first successful attempt at gene therapy dates back to 1990, using retrovirus-derived vectors to transduce the T-lymphocytes of a 4-year-old girl with X-linked severe combined immunodeficiency disease (SCID-X1) with enzyme adenosine deaminase (ADA) deficiency. The trial was a great success, eliminating the girl's disease and marking a great milestone in the history of genetics. Furthermore, the success of viral vectors also opened new avenues to gene editing, such as zinc finger nucleases and the very prominent CRISPR-Cas9. For example, in mid-November 2023, the UK Medicines and Healthcare products Regulatory Agency or MHRA approved the CRISPR-based gene therapy, Casgevy, for sickle cell disease and β-thalassemia. It is clear that the advent of gene therapies significantly shaped the treatment landscape and our approach to genetic disorders. However, for most of gene therapy history, it is done almost exclusively on somatic cells or some stem cells, not germline cells. How it works As mentioned, inherited genetic disease-associated mutations are also present in germline cells or gametes. The current approach to gene therapy targets genes of some or very specific somatic or multipotent stem cells. For example, in the 1990 trial, the ADA-deficient SCID-X1 T-lymphocytes were targeted, and in recently approved Casgevy, the BCL11A erythroid-specific enhancer in hematopoietic stem cells. The methods involved in gene therapies also vary, each with advantages and limitations and carrying some therapeutic risks. Nevertheless, when aiming to treat genetic diseases, gene therapy should answer two things: how to do it and where. There are a few elucidated strategies of gene therapies. Unlike some popular beliefs, gene therapies do not always directly change or edit mutated genes. Instead, some gene therapies target enhancers or regulatory regions that control the expression of mutated genes. In other cases, such as in Casgevy, enhancers of a different subtype are targeted. By targeting or reducing BCL11A expression, Casgevy aims to induce the production of foetal haemoglobin (HbF), which contains the γ-globin chain as opposed to the defective β-chain in the adult haemoglobin (HbA) of sickle cell disease or β-thalassemia. Some gene therapies can also be done ex vivo or in vivo . Ex vivo strategies involve extracting cells from the body and modifying them in the lab, whilst in vivo strategies directly modify the cell without extraction (e.g. using viral/ non-viral vectors to insert genes). In essence, the list of strategies for gene therapies is growing, each with limitations and a promising prospect of tackling genetic diseases. These methods aim to “cure” genetic diseases in patients. However, the strategies mentioned above have all been researched using and, perhaps, made therapeutically for somatic or multipotent stem cells. Germline gene therapy (GGT), involves directly editing the genetic materials of germline cells or the egg and sperm cells before fertilisation. This means if it is done successfully, fertilisation of these cells will eliminate the disease phenotype from all cells of the offspring instead of only effector cells. Potentially, GGT may eradicate a genetic disease for all future generations. Therefore, it is an appealing alternative to human embryo editing, as it achieves similar or the same result without the need to modify an embryo. However, due to its nature, its advantage may also be its limitation. Ethical issues GGT has the potential to cure genetic disorders within families. However, because it involves editing either the egg or sperm cells before fertilisation, there are prominent ethical issues associated with this method, like the use of embryos for research and many more. Firstly, GGT gives no room for error. Mistakes during the gene modification process could cause systemic side effects or a harsher disease than the one initially targeted, leading to a multigenerational effect. For example, if parents went to a clinic to check if one/both their germ cells have a gene coding for proteins implicated in cystic fibrosis, an off-target mistake during GGT may lead to their child developing Prader-Willi Syndrome or other hereditary disorders caused by editing out significant genes for development. Secondly, an ecological perspective asserts that the current human gene pool, an outcome of many generations of natural selection, could be weakened by germline gene editing. Also, there is the religious perspective, where editing embryos goes against the natural order of how god created living creatures as they should be, where their natural phenotypes are “assigned” for when they are alive. Another reason GGT may be unethical is it leads to eugenics or creating “designer babies”. These are controversial ideas dating back to the late 19th century, where certain traits are “better” than others. This implies they should appear in human populations while individuals without them should be sterilised/killed off. For instance, it is inconceivable to forget the Nazi Aktion T4 program, which sought to murder disabled people because they were seen as “less suitable” for society. Legal and social issues Eugenics is notorious today because of its history. Genetic counselling may be seen like this as one possible outcome may be parents who end pregnancies if their child inherits a genetic disease. Moreover, understanding GGT’s societal influences is crucial, so clinical trial designs must consider privacy, self-ownership, informed consent and social justice. In China, the public’s emotional response to GGT in 2018 was mainly neutral, as shown in Figure 1, but some of the common “hot words” when discussed were ‘mankind’, ‘ethics’, and ‘law’. With this said, regulations are required with other nations for a wider social consensus on GGT research. In other countries, there are stricter rules for GGT. it is harder to conduct experiments using purposely formed/altered human embryos with inheritable mutations in the United States because the legal outcomes can include prison time and $100,000 fines. Furthermore, when donors are required, they must be fairly compensated, and discussing methodologies is crucial because there are issues on how they can impact men and women. South Africa has two opposing thoughts on GGT or gene editing. Bioconservatism has worries about genetic modification and asserts its restrictions, while bioliberalism is receptive to this technology because of the possible benefits. Likewise, revisions to the current regulations are suggested, such as rethinking GGT research or a benefit-risk analysis for the forthcoming human. Conclusion Overall, gene therapies have transformed the therapeutic landscape for genetic diseases. GGT is nevertheless a unique approach that promises to completely cure a genetic disease for families without the need to edit human embryos. However, GGT’s prospects may do more harm than good because its therapeutic effects are translated systemically and multigenerationally. On top of that, controversial ideas such as designer babies can arise if GGT is pushed too far. Additionally, certain countries have varying regulations due to cultural attitudes towards particular scientific innovations and the beginning of life. Reflecting on the ethical, legal and social issues, GGT is still contentious and probably would not be a prominent treatment option anytime soon for genetic diseases. Written by Sam Jarada and Stephanus Steven Introduction, and How it works by Stephanus Ethical issues, and Legal and social issues by Sam Conclusion by Sam and Stephanus Related article: Monkey see, monkey clone References: Cavazzana-Calvo, M. et al. (2000) ‘Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease’, Science , 288(5466), pp. 669–672. doi:10.1126/science.288.5466.669. Demarest, T.G. and Biferi, M.G. (2022) ‘Translation of gene therapy strategies for amyotrophic lateral sclerosis’, Trends in Molecular Medicine , 28(9), pp. 795–796. doi:10.1016/j.molmed.2022.07.001. Frangoul, H. et al. (2021) ‘CRISPR-Cas9 gene editing for sickle cell disease and β-thalassemia’, New England Journal of Medicine , 384(3), pp. 252–260. doi:10.1056/nejmoa2031054. AGAR, N. (2018). Why We Should Defend Gene Editing as Eugenics. Cambridge Quarterly of Healthcare Ethics, 28(1), pp.9–19. doi: https://doi.org/10.1017/s0963180118000336 . de Miguel Beriain, I., Payán Ellacuria, E. and Sanz, B. (2023). Germline Gene Editing: The Gender Issues. Cambridge Quarterly of Healthcare Ethics, 32(2), pp.1–7. doi: https://doi.org/10.1017/s0963180122000639 . Genome.gov . (2021). Eugenics: Its Origin and Development (1883 - Present). [online] Available at: https://www.genome.gov/about-genomics/educational-resources/timelines/eugenics#:~:text=Discussions%20of%20eugenics%20began%20in . Johnston, J. (2020). Budgets versus Bans: How U.S. Law Restricts Germline Gene Editing. Hastings Center Report, 50(2), pp.4–5. doi: https://doi.org/10.1002/hast.1094 . Kozaric, A., Mehinovic, L., Stomornjak-Vukadin, M., Kurtovic-Basic, I., Catibusic, F., Kozaric, M., Mesihovic-Dinarevic, S., Hasanhodzic, M. and Glamuzina, D. (2016). Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country. Bosnian Journal of Basic Medical Sciences, [online] 16(2). doi: https://doi.org/10.17305/bjbms.2016.994 . Luque Bernal, R.M. and Buitrago BejaranoR.J. (2018). Assessoria genética: uma prática que estimula a eugenia? Revista Ciencias de la Salud, 16(1), p.10. doi: https://doi.org/10.12804/revistas.urosario.edu.co/revsalud/a.6475 . Nielsen, T.O. (1997). Human Germline Gene Therapy. McGill Journal of Medicine, 3(2). doi: https://doi.org/10.26443/mjm.v3i2.546 . Niemiec, E. and Howard, H.C. (2020). Germline Genome Editing Research: What Are Gamete Donors (Not) Informed About in Consent Forms? The CRISPR Journal, 3(1), pp.52–63. doi: https://doi.org/10.1089/crispr.2019.0043 . Peng, Y., Lv, J., Ding, L., Gong, X. and Zhou, Q. (2022). Responsible governance of human germline genome editing in China. Biology of Reproduction, 107(1). doi: https://doi.org/10.1093/biolre/ioac114 . Shozi, B. (2020). A critical review of the ethical and legal issues in human germline gene editing: Considering human rights and a call for an African perspective. South African Journal of Bioethics and Law, 13(1), p.62. doi: https://doi.org/10.7196/sajbl.2020.v13i1.00709 . Thaldar, D., Botes, M., Shozi, B., Townsend, B. and Kinderlerer, J. (2020). Human germline editing: Legal-ethical guidelines for South Africa. South African Journal of Science, 116(9/10). doi: https://doi.org/10.17159/sajs.2020/6760 . Zhang, D. and Lie, R.K. (2018). Ethical issues in human germline gene editing: a perspective from China. Monash Bioethics Review, 36(1-4), pp.23–35. doi: https://doi.org/10.1007/s40592-018-0091-0 . Project Gallery
- Apocrine carcinoma: a rare form of breast cancer | Scientia News
Key facts Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Apocrine carcinoma: a rare form of breast cancer 22/04/25, 14:13 Last updated: Published: 05/09/24, 10:20 Key facts This is article no. 7 in a series on Rare Diseases. Next article: Pseudo-Angelman Syndrome . Previous article: Neuromyelitis optica . Apocrine carcinoma (AC) is a rare form of breast cancer, accounting for approximately 1-4% of all breast cancer cases worldwide. It affects a wide range of patients from 19 to 92 years of age, with the reported mean age varying from 53 to 62 years. AC of the skin - primary cutaneous apocrine carcinoma - is the only other known cancer that arises from apocrine cells. This is a very rare cancer with limited research. AC is commonly classified into two subtypes: triple-negative AC (TNAC) and HER2+ AC. Another receptor not included in the ‘triple negative’ name is the androgen receptor (AR). A ‘pure’ apocrine carcinoma is ER-negative, PR-negative, but AR-positive. Among triple negative ACs, ones that are AR-positive have a better prognosis. AC is often associated with triple-negative breast cancers (TNBC), meaning that it does not express oestrogen receptors (ER) and progesterone receptors (PR), and produces very little to no HER2– all of which play key roles in the reproductive system. AC arises from apocrine metaplastic cells that are commonly located in the lobules of the breast. This disease can be aggressive and can metastasise to the lymph nodes and distant organs (eg. lungs, liver, and bone). What makes AC different is the appearance of cells which have abundant granular eosinophilic or cytoplasm with fine empty vacuoles. Despite its rarity, focal apocrine differentiation is relatively common (reported in approximately 60% of not otherwise specified [NOS] invasive ductal carcinoma) and shows clinical presentation and radiographic findings similar to that of invasive ductal carcinoma NOS. TNBCs are generally aggressive and present a poor prognosis. However, studies show apocrine breast cancer to have a better prognosis and low proliferative nature, despite its poor response to neoadjuvant chemotherapy. Treatment of AC may include surgery, radiation therapy, chemotherapy, hormone therapy, or targeted therapy. The problem with TNACs is that therapies targeting the hormone receptors are ineffective. Conversely, targeted therapy is seen to work relatively well with HER2-positive ACs despite them being more aggressive than TNACs. ACs can be diagnosed through a series of tests—usually a mammogram, ultrasound, biopsy, and finally immunohistochemistry. The latter makes it possible to know the status of the ERs and PRs. As with most breast cancers the earlier the detection and treatment implementation, the better the prognosis for the patient. ACs can be hard to diagnose due to its rarity and non-specific presentation. AC has a low proliferative nature, which is shown in its low Ki-67 index. Ki-67 has a higher presentation in cells that have a high division rate. Slower division rates result in slower growth rates of the tumour, and may imply that there is a better prognosis. This could be one of the reasons why apocrine triple-negative breast cancers have a better prognosis than other types of TNBCs. There is promise in the future for AC, however this is not without its challenges. Due to its rarity there are limited patients to participate in clinical trials which are essential in new treatment development. Written by Henrietta Owen & Sherine A Latheef Related article: Epitheliod hemangioendothelioma REFERENCES Apple, S.K., Bassett, L.W. and Poon, C.M. (2011) ‘Invasive ductal carcinomas’, Breast Imaging, pp. 423–482. doi:10.1016/b978-1-4160-5199-2.00022-9. Bcrf (2024) Types of breast cancer: BCRF, Breast Cancer Research Foundation. Available at: https://www.bcrf.org/blog/types-of-breast-cancer/ (Accessed: 05 June 2024). Hu, T. et al. (2022) ‘Triple-negative apocrine breast carcinoma has better prognosis despite poor response to neoadjuvant chemotherapy’, Journal of Clinical Medicine, 11(6), p. 1607. doi:10.3390/jcm11061607. Suzuki, C., Yamada, A., Kawashima, K., Sasamoto, M., Fujiwara, Y., Adachi, S., Oshi, M., Wada, T., Yamamoto, S., Shimada, K., Ota, I., Narui, K., Sugae, S., Shimizu, D., Tanabe, M., Chishima, T., Ichikawa, Y., Ishikawa, T., & Endo, I. (2023). Clinicopathological Characteristics and Prognosis of Triple-Negative Apocrine Carcinoma: A Case-Control Study. World Journal of Oncology, 14(6), 551-557. Vranic, S., Feldman, R. and Gatalica, Z. (2017) ‘Apocrine carcinoma of the breast: A brief update on the molecular features and targetable biomarkers’, Bosnian Journal of Basic Medical Sciences, 17(1), pp. 9–11. doi:10.17305/bjbms.2016.1811 Xiao, X., Jin, S., Zhangyang, G., Xiao, S., Na, F. and Yue, J. (2022). Tumor-infiltrating lymphocytes status, programmed death-ligand 1 expression, and clinicopathological features of 41 cases of pure apocrine carcinoma of the breast: a retrospective study based on clinical pathological analysis and different immune statuses. Gland Surgery, 11(6), pp.1037–1046. doi:https://doi.org/10.21037/gs-22-248. Project Gallery
- The Brain-Climate Connection: The Hidden Impact of Rising Temperatures | Scientia News
Rising temperatures can affect brain health Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link The Brain-Climate Connection: The Hidden Impact of Rising Temperatures 19/06/25, 10:14 Last updated: Published: 24/05/23, 09:55 Rising temperatures can affect brain health Global warming is not only disrupting ecosystems, affecting the food we eat and the air we breathe, but it’s also impacting our neurological health. According to the 2022 Global Climate Report from NOAA National Centers for Environmental Information , 2022 was the sixth warmest year since 1880. To understand this better, let’s start with the basics. The brain is made up of billions of tiny cells called neurons that communicate with each other by generating electrochemical signals. Think of neurons as small batteries capable of producing electricity when triggered by electrically charged chemicals, called ions. When a neuron is at rest, so when it’s not transmitting an electrical signal, it maintains a negative charge inside compared to the outside. This difference in charge is created by the selective movement of ions across the neuron’s membrane through ion channels and pumps. The resting membrane potential of a neuron is typically around -70 millivolts (mV). When a neuron needs to send information, it generates electrical activity called action potential , which causes the electrical charge to become less negative and closer to zero. To trigger a full-sized action potential, the electrical charge needs to reach a threshold of approximately -55 mV. If the charge reaches this threshold, a full-sized action potential is triggered and the neuron will send a signal down to other neurons. However, if the electrical charge does not reach this threshold, the neuron will not send a signal at all. This is known as the “ALL OR NONE” principle. The action potential is a crucial part of the neuron’s communication process, as it allows the neuron to send signals quickly and efficiently to other neurons. But here’s the catch: temperature fluctuations can affect the ion channels that generate and propagate action potentials, which are critical for the neuron’s communication process. It turns out that an increase in temperature can influence the generation , speed , and duration of action potentials. But that’s not all! Hotter temperatures can trigger seizures in individuals with epilepsy or a history of seizures. One of the most concerning findings from scientific research is that climate change, among other factors, may contribute to an increase in seizure severity and frequency, as well as the development of cerebrovascular and neurodegenerative diseases, such as strokes or dementia . Triggering stress and sleep deprivation, heat waves can also exacerbate the symptoms of such pre-existing disorders. The good news is that we can take action to address the direct impact of climate change on our planet and health. Joining initiatives like Climatematch Academy (CMA) , a 2-week interactive online summer school, can help you learn more about climate science and become part of a global community that is working towards a more sustainable future. CMA is an all-volunteer organization run by dozens of science enthusiasts. It aims at introducing computational methods for climate science taking advantage of available open-source tools and datasets to make science accessible to students worldwide. This is your chance to learn cutting-edge techniques from climate science experts and make a difference in the world, ensuring a brighter future for ourselves and future generations. Written by Viviana Greco Related articles: The environmental impact of EVs / Emperor penguins / Impacts of global warming on NTDs Project Gallery
- Advances in mass spectrometry technology | Scientia News
Pushing the boundaries of analytical chemistry Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Advances in mass spectrometry technology 08/07/25, 16:22 Last updated: Published: 09/06/24, 10:48 Pushing the boundaries of analytical chemistry In the rapidly evolving field of analytical chemistry, recent technological innovations in mass spectrometry have revolutionised the analysis and characterisation of molecules. These advancements, including high-resolution mass analysers, ion mobility spectrometry (IMS), and ambient ionisation techniques, are pushing the boundaries of what can be achieved in chemical analysis. Mass spectrometry is a powerful analytical technique that provides qualitative and quantitative information on an analyte. It is useful for measuring the mass-to-charge ratio (m/z) of one or more molecules present in a sample. The process consists of: Inlet - Allows the analyte to be connected to the mass spectrometre (MS). Could be direct inlet or gas chromotography (GC) / liquid chromatography (LC) to allow some separation before MS Ion source - Ensures that the analyte is ionised (i.e. carries a net charge) there are various types of ion sources depending on the analyte Analysers - Brings about a change in the velocity/trajectory of an ion from which the ions m/z can be determined i.e. characterises rate/velocity of ion. Multiple analysers are in tandem and different analysers can be combined to allow greater scope for analysis. A detection system is also required to amplify and measure ion signals. Analysers and detectors need to be held under low pressure - near vacuum. Detector - collects charge signals from ion beams. The computer then detects a spectrum. The electronic signals from the ions are then digitised to produce a mass spectrum of the analyte. High-resolution mass analysers One of the most significant breakthroughs in mass spectrometry is the development of high-resolution mass analysers. These instruments can differentiate between ions with extremely close mass-to-charge ratios, providing unprecedented levels of accuracy and specificity in compound identification. High-resolution mass spectrometry enables scientists to resolve complex mixtures and detect trace components with exceptional sensitivity, making it invaluable in fields such as metabolomics, environmental analysis, and drug discovery. Ion Mobility Spectrometry (IMS) Ion mobility spectrometry is another cutting-edge technology that enhances the capabilities of mass spectrometry. IMS separates ions based on their size, shape, and charge in the gas phase, providing an additional dimension of separation before mass analysis. This technique improves the resolution of complex samples, particularly for isomeric compounds that are challenging to distinguish using conventional methods. IMS coupled with mass spectrometry is widely applied in metabolomics, proteomics, and lipidomics research, enabling deeper insights into molecular structures and interactions. Ambient ionisation techniques Traditional mass spectrometry methods often require extensive sample preparation and ionisation processes in controlled laboratory environments. Ambient ionisation techniques have transformed this paradigm by enabling direct analysis of samples in their native states, including solids, liquids, and gases, without prior extraction or purification steps. Techniques such as desorption electrospray ionisation (DESI) and direct analysis in real-time (DART) have expanded the scope of mass spectrometry applications to fields like clinical diagnostics, food safety, and forensic analysis. Ambient ionisation allows for rapid, on-site measurements with minimal sample handling, revolutionising point-of-care testing and field analysis. In conclusion, the continuous evolution of mass spectrometry technology is reshaping the landscape of analytical chemistry. These innovations not only empower researchers to explore new realms of chemical analysis but also facilitate applications in areas such as precision medicine, environmental monitoring, and materials science. As these technologies continue to advance, the future holds even greater promise for pushing the boundaries of analytical chemistry and unlocking the mysteries of the molecular world. Written by Anam Ahmed Related article: Advancements in semi-conductor manufacturing Project Gallery
- Conserving the California condors | Scientia News
Captive breeding has grown the California condor population over 18-fold Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Conserving the California condors 24/04/25, 11:46 Last updated: Published: 04/11/24, 14:56 Captive breeding has grown the California condor population over 18-fold This is article no. 2 in a series on animal conservation. Next article: Beavers are back in Britain . Previous article: The cost of coats: celebrating 55 years of vicuna conservation . California condors are critically endangered birds living on the west coast of North America. Their population decline was first reported in 1953, and they were nearly extinct by 1987. Since then, a captive breeding and reintroduction program has saved the species in the face of multiple human threats. This article will describe some of those threats and available measures to mitigate them. Why California condors became endangered Lead poisoning was the main cause of California condor mortality in the late 20th century. Like vultures, California condors eat dead mammals. When these mammals were shot dead with lead bullets, condors ingested fragments of the bullets, and the lead poisoned their bloodstream. Multiple condors feeding on the same carcass got poisoned, which could be why the population crashed so badly. Today, lead poisoning is the biggest, but not the only, threat to California condor survival ( Figure 1 ). The birds used to be hunted for museums and private collections in the early 20th century, but nowadays, any shootings are accidental. A bigger concern, and the second-most common human-related cause of mortality, is condors colliding with utility poles and power lines. The third-most common is fires: a 2015 study found that every recent wildfire in California has coincided with at least one condor death. Climate change will make these fires more frequent and severe. These threats mainly apply to inland California condors - halogenated organic compound (HOC) pollution is an issue for coastal birds. When coastal condors eat marine mammals contaminated with HOCs, the compounds disrupt their reproductive system and thin their eggshells. In short, humans have created a hostile environment for California condors. Successful captive breeding and population recovery Despite these threats, captive breeding has grown the California condor population over 18-fold ( Figure 2 ). In 1987, all remaining wild condors were captured and bred, with juveniles released to the wild from 1992 onwards. Reintroduced birds are monitored regularly, and poisoned birds are treated with chelation therapy - where a drug binds to lead in the bloodstream and takes it to the kidneys to be filtered out. Since 1995, power line collisions have been avoided by giving juveniles behavioural training before reintroduction. Because of these measures, the California condor mortality rate in the wild decreased from 37.2% in 1992-1994 to 5.4% in 2001-2011. Challenges of conserving California condors Although captive breeding has saved the California condor population, it has also altered behaviours. The original condors stay with one mate longer than reintroduced condors, which may form polygamous relationships. Scientists think that spending so much time with non-family members in captivity has made juveniles promiscuous when reintroduced. Captive bred condors have also gotten used to being fed by people - so they approach people more often, spend longer in areas of human activity, and forage over a smaller area than the original condors. Moreover, condors in southern California were spotted feeding their chicks human litter. These behavioural changes mean the wild California condor population is not self-sustaining. The wild population is also not self-sustaining because condors are still being poisoned ( Figure 3 ). Banning lead bullets is the most effective way to guarantee population growth, but enforcing it has been challenging. Non-toxic alternative bullets like copper cannot find popularity. For population growth, every adult California condor killed is estimated to be worth 2-3 reintroduced juveniles. This is because released juveniles are more vulnerable and take years to reach breeding age. Therefore, American conservationists must keep pressuring authorities to reduce threats to adult California condors. Conclusion Pollution, urbanisation, and climate change have made it hard for the California condor population to recover from decades of lead poisoning. Long generation times and behavioural changes mean captive breeding is the species’ only hope of survival. Perhaps humans are the ones who need to change their behaviour - not feeding California condors and switching to copper bullets would allow these majestic birds to keep roaming the skies. Written by Simran Patel Related articles: Marine iguana conservation / Deception by African birds / Emperor penguins REFERENCES Bakker, V.J. et al. (2024) Practical models to guide the transition of California condors from a conservation-reliant to a self-sustaining species. Biological Conservation . 291: 110447. Available from: https://www.sciencedirect.com/science/article/pii/S0006320724000089 (Accessed 19th September 2024). D’Elia, J., Haig, S.M., Mullins, T.D. & Miller, M.P. (2016) Ancient DNA reveals substantial genetic diversity in the California Condor (Gymnogyps californianus) prior to a population bottleneck. The Condor . 118 (4): 703–714. Available from: https://doi.org/10.1650/CONDOR-16-35.1 (Accessed 28th September 2024). Finkelstein, M.E. et al. (2023) California condor poisoned by lead, not copper, when both are ingested: A case study. Wildlife Society Bulletin . 47 (3): e1485. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/wsb.1485 (Accessed 28th September 2024). Kelly, T.R. et al. (2015) Two decades of cumulative impacts to survivorship of endangered California condors in California. Biological Conservation . 191: 391–399. Available from: https://www.sciencedirect.com/science/article/pii/S0006320715300173 (Accessed 28th September 2024). Mee, A. & Snyder, N. (2007) California Condors in the 21st Century - conservation problems and solutions. In: 243–279. Meretsky, V.J., Snyder, N.F.R., Beissinger, S.R., Clendenen, D.A. & Wiley, J.W. (2000) Demography of the California Condor: Implications for Reestablishment. Conservation Biology . 14 (4): 957–967. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1046/j.1523-1739.2000.99113.x (Accessed 29th September 2024). Stack, M.E. et al. (2022) Assessing Marine Endocrine-Disrupting Chemicals in the Critically Endangered California Condor: Implications for Reintroduction to Coastal Environments. Environmental Science & Technology . 56 (12): 7800–7809. Available from: https://doi.org/10.1021/acs.est.1c07302 (Accessed 19th September 2024). U.S. Fish and Wildlife Service (2023) California Condor Population Graph, 1980-2022 | FWS.gov . 18 April 2023. Available from: https://www.fws.gov/media/california-condor-population-graph-1980-2022 (Accessed 28th September 2024). U.S. Fish and Wildlife Service (2020) California Condor Recovery Program 2020 Annual Population Status . Available from: https://www.fws.gov/sites/default/files/documents/2020-California-Condor-Population-Status.pdf (Accessed 28th September 2024). Project Gallery
- Solving the mystery of ancestry with SNPs and haplogroups | Scientia News
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










