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Genetics

Unveiling the Disparity in Cardiovascular Health: Biological Factors, Dyslipidemia, and Genetics – Medriva

Unveiling the Disparity in Cardiovascular Health

Recent studies have highlighted an alarming health disparity: South Asians are at a significantly higher risk of developing heart disease than their white counterparts. This gap in health outcomes extends beyond geographical borders, affecting South Asians globally. But what contributes to this disparity? A series of recent studies aim to unpack the complex interplay of genetic, biological, and lifestyle factors at play.

Research suggests that unique biological factors may predispose South Asians to heart disease. For instance, South Asians reportedly have a decreased ability to repair blood vessels and lower levels of certain stem cells crucial for regenerating blood vessels. Impaired kidney function, another common issue in this population, further exacerbates the risk. In addition, South Asians have a fourfold higher risk of developing Atherosclerotic Cardiovascular Disease (ASCVD) compared to the general population.

Interestingly, despite having lower levels of low-density lipoprotein cholesterol (LDL C), Indians develop ASCVD about a decade earlier than Western populations. In response to this, the Lipid Association of India (LAI) has updated their cardiovascular risk assessment and lipid management guidelines. These updated recommendations aim to better manage dyslipidemia in Indian patients, with the ultimate goal of curtailing the epidemic of ASCVD among Indians globally.

High total cholesterol, LDL cholesterol, and Non-HDL cholesterol are significant risk factors for coronary artery disease (CAD) in South Asians. Studies reveal alarming trends in increasing population levels of these lipids, particularly in northern and western Indian cities. Emigrant Indians in the UK and USA also reportedly have higher triglycerides compared to Caucasians, underscoring the need for more nationwide surveys and prospective studies to assess the risk of CAD incidence.

Advancements in technology have allowed researchers to delve deeper into the genetic factors influencing heart disease. A study by researchers from Brigham and Womens Hospital, Broad Institute of MIT and Harvard, and Stanford Medicine has revealed links between genetic alterations in cells lining blood vessels and CAD risk. The study identified that a key biological mechanism involved in a rare vascular disease, cerebral cavernous malformations (CCM) signaling pathway, may influence CAD risk by impacting vascular inflammation, thrombosis, and the structural integrity of the endothelium.

While biological and genetic factors are significant, its crucial not to overlook the role of lifestyle and diet in cardiovascular health. Regular physical activity, managing stress, regular check-ups, and making dietary changes can significantly reduce the risk of heart disease among South Asians. Addressing the unique health needs of different ethnic groups will be key to reducing the burden of heart disease globally.

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Unveiling the Disparity in Cardiovascular Health: Biological Factors, Dyslipidemia, and Genetics - Medriva

Genetics

Parental traits offer new clues to predicting neurodevelopmental disorders in children – News-Medical.Net

Predicting the trajectory of neurodevelopmental and psychiatric disorders like autism or schizophrenia is difficult because they can be influenced by many different genetic and environmental factors. A new study, led by Penn State researchers, demonstrates that evaluating parents for their manifestation of traits of these disorders -; and related diseases like depression and anxiety -; may provide a more accurate method of predicting the prevalence, and potentially severity, of the disorders in affected children than screening for genetic variants alone. This is likely due, at least in part, to genetic variants the parents transmit to the child that would not be routinely picked up in a genetic screen and lead to more severe disease, the researchers explained.

A paper describing the research appeared in the American Journal of Human Genetics. According to the researchers, understanding how both parents contribute to their child's diagnosis could inform genetic counseling and the development of therapeutic intervention plans for children impacted by these disorders.

We looked at the presence of neurodevelopmental and psychiatric traits in children and parents from a large set of families. We saw an increase in the presence of neurodevelopmental disorders in children whose parents both report having the trait, including psychiatric traits like anxiety or depression."

Santhosh Girirajan, interim department head and T. Ming Chu Professor of Biochemistry and Molecular Biology in the Penn State Eberly College of Science and lead author of the paper

The team looked at 97,000 families, many including children with neurodevelopmental disorders such as autism or intellectual disability and evaluated how risk factors -; genetic features and the presence of the traits -; in both parents impact the trajectory of the disease in the children. The datasets included genetic information and questionnaire data from families in a large public biobank, as well as from families from specific studies of neurodevelopmental disorders.

The researchers evaluated parents and their children for symptoms of the various disorders and assessed known genetic mutations that can give rise to such disorders. Their analysis revealed that parents tend to select partners with the same or related disorders, leading to increased prevalence and, potentially, severity of the disorder in their children.

"Most neurodevelopmental disorders are genetically complex, meaning that they aren't caused by a single gene," Girirajan said. "This makes it hard to trace the exact genetic underpinnings of a disorder in an individual and even harder to predict how the disorder will play out in affected children."

The researchers explained that complex genetic diseases can be caused by mutations in many genes, each of which could be inherited from one or both parents, or occur spontaneously in the newly formed genome of the child. The child's disease prognosis results from the combination of mutations that they inherit and how they interact with one another during development. This is called the "multi-hit model" because the disease results from multiple different mutations in many different genes.

"We have been studying one such mutation -; a deletion of a small segment of chromosome 16 -; that has been implicated as a risk factor for several neurodevelopmental disorders," Girirajan said. Symptoms of these disorders can manifest as seizures, schizophrenic features, depression and anxiety, along with characteristics related to addiction. "This mutation is often passed from a parent to a child, but the child regularly has more severe symptoms of the disorder than the parent. We wanted to know if other 'hits' for the disorder could be coming from the other parent. So, we looked at the traits of both parents in a large cohort of families with children with neurodevelopmental disorders."

The research team found that the parent that had passed on the deletion had less severe symptoms than their child or even different but related psychiatric disorders like depression or anxiety. They also found that the other parent often had similar psychiatric traits.

"What we realized, and it's been studied for a long time, is that in people there is a phenomenon called 'assortative mating,'" said Corrine Smolen, a graduate student at Penn State working with Girirajan and the first author of the paper. "Whether it's consciously or unconsciously, people with similar features preferentially find each other as partners. Although there could be other explanations, we see this in our data and that is probably what is leading to what we are seeing in the families that we studied."

The parent that doesn't have the deletion must have these traits because of some other genetic mutations, the researchers explained, and when these mutations are combined with the deletion in the genome of the child, the result is more severe disease. By assessing the traits in both parents, the researchers could more accurately predict the trajectory of the disease in their children than would be possible via genetic screening alone. They also could eventually use this information to try to identify new mutations -; those inherited from the parent without the deletion -; that are involved in causing these traits.

"We found that there is a good correlation between the traits in the parents," Girirajan said. "Someone with schizophrenia is more likely to find a partner with schizophrenia, someone with anxiety and depression is more likely to find a partner with anxiety and depression. This is well-known for other things, like tall people marrying other tall people. Because all of these traits have at least some genetic component that could be similar between the partners, this leads to a situation that is akin, but less pronounced, to consanguineous marriage, when people who are related through ancestry marry."

In this case, Girirajan explained, the assortative mating based on traits -; rather than relatedness -; appears to be driving genetic similarity between the partners which could be leading to more cases and potentially more severe traits in their offspring. As an example, the researchers saw that when neither partner had anxiety, 12.6% of their male children had anxiety. That number jumped to 25.7% when one parent reported having anxiety and to 33.8% when both parents had anxiety. This increase in prevalence is indicative of an increase in severity because more severe traits are more likely to be identified, according to the research team.

In addition to Girirajan and Smolen, the research team includes Matthew Jensen, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan and Emily Huber at Penn State; Lisa Dyer and Jane Juusola at GeneDx, in Maryland; Laila El Khattabi at the Assistance PubliqueHpitaux de Paris in France; Paolo Prontera at the Santa Maria della Misericordia Hospital in Italy; Jean-Hubert Caberg at the Centre Hospitalier Universitaire de Lige in Belgium; Anke Van Dijck and R. Frank Kooy at the University and University Hospital Antwerp in Belgium; Charles Schwartz at the Greenwood Genetic Center in South Carolina; Laurence Faivre, Patrick Callier, and Mathilde Lefebvre at the Universit de Bourgogne Franche Comt in France; Anne-Laure Mosca-Boidron at the Laboratoire de Genetique Chromosomique et Moleculaire in France; Kate Pope, Penny Snell and Paul J. Lockhart at the University of Melbourne in Australia; David J. Amor at the Murdoch Children's Research Institute in Australia; Lucia Castiglia, Ornella Galesi, Emanuela Avola and Maria Grazia Bruccheri at the Oasi Research Institute in Italy; Teresa Mattina, Marco Fichera and Corrado Romano at the University of Catania in Italy; Giuseppa Maria Luana Mandar at ASP Ragusa in Italy; Olivier Pichon, Silvestre Cuinat, Sandra Mercier, Claire Bnteau and Bertrand Isidor at CHU Nantes in France; Cedric Le Caignec at the Universit de Toulouse in France; Radka Stoeva at CHU de Le Mans in France; Sophie Blesson and Dominique Martin-Coignard at Bretonneau University Hospital in France; Ashley Nordsletten at the University of Michigan; and Erik Sistermans at Amsterdam UMC in the Netherlands.

Grants from the U.S. National Institutes of Health, the South Carolina Department of Disabilities and Special Needs, and the Italian Ministry of Health-Ricerca Corrente supported the research.

Source:

Journal reference:

Smolen, C., et al. (2023). Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.The American Journal of Human Genetics. doi.org/10.1016/j.ajhg.2023.10.015.

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Parental traits offer new clues to predicting neurodevelopmental disorders in children - News-Medical.Net

Embryology

Understanding Synthetic Embryology and Its Implications for Healthcare – Medriva

Synthetic embryology is a rapidly evolving field that focuses on replicating and studying embryonic development using human stem cells. This cutting-edge science aims to address the challenges associated with using real human embryos and, in the process, is providing valuable insights into early human development. Through the creation of models like gastruloids and blastoids, scientists can mimic different stages of human embryogenesis and explore a myriad of potential applications in prenatal care, disease modeling, and regenerative medicine.

Synthetic embryology creates models of early human development, adhering strictly to ethical standards and regulations. These models are not intended for transfer into the uterus of a human or animal, but instead serve as a crucial tool in advancing our biological understanding of life. The field holds great promise in unraveling the complexities of embryogenesis, with potential applications that could revolutionize myriad aspects of healthcare and medicine.

As reported by Economic Times, the future landscape of In Vitro Fertilization (IVF) is set to see significant advancements and face new challenges with the advent of AI-powered technologies. The number of IVF cycles conducted annually is on the rise, and the market is predicted to expand further by 2030. The integration of artificial intelligence could enhance the accuracy, efficiency, and accessibility of fertility treatments, potentially making parenthood a reality for more couples across the globe.

Genetic engineering, or genetic modification, as defined by the National Human Genome Research Institute, involves the alteration of an organisms DNA makeup using laboratory technologies. This process can involve changing a single base pair, deleting a region of DNA, or adding a new segment of DNA. Genetic engineering has found applications in diverse areas, including the production of cancer therapies, brewing yeasts, and genetically modified plants and livestock. In the context of synthetic embryology, genetic engineering could potentially play a crucial role in understanding and manipulating embryonic development.

ScienceDirect highlights the potential of nanotechnology in managing and treating disorders of the female reproductive system. Through precise manipulation and regulation of biological molecules and cells, nanotechnology can deliver drugs with pinpoint accuracy, reducing side effects and improving therapeutic efficacy. Nanomaterial imaging techniques enhance diagnostic precision and sensitivity, aiding in the assessment of disease severity and progression. Additionally, nanobiosensors facilitate the early detection and prevention of ailments, promising to improve treatment outcomes and overall quality of life.

According to an article published in the journal Cells, human pluripotent stem cells are being increasingly used in cardiovascular disease research. These stem cells can mimic disease phenotypes, overcoming the limitations of current toxicological studies. Clinical trials involving stem-cell-based approaches to treat cardiovascular diseases are ongoing, although the strengths and weaknesses of these methods are still under critical evaluation.

In conclusion, as synthetic embryology continues to evolve, it will play an increasingly vital role in advancing our understanding of human development. By harnessing the power of technologies like AI, genetic engineering, and nanotechnology, we can expect to see significant strides in the field. From revolutionizing fertility treatments to creating more effective disease models, the potential applications of synthetic embryology are as exciting as they are diverse.

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Understanding Synthetic Embryology and Its Implications for Healthcare - Medriva

Physiology

Bacterial architects build the biofilm structures – Nature.com

Bacterial biofilms are multicellular structures that are encased in a matrix of extracellular polymeric substances and that have been linked to chronic infections in clinical settings. Previous studies have suggested that the distinct anatomy of biofilms affects the access for individual cells to resources, which in turn influences metabolic activity and survival within biofilms. In addition, the biofilm anatomy has been linked to antimicrobial susceptibility. However, how cells are arranged within biofilm structures, the genetic determinants of this arrangement and physiological importance of such patterns have not been well understood. In this study, Dietrich, Dayton and colleagues report that Pseudomonas aeruginosa cells form striations that are packed lengthwise across the biofilm and that this physical arrangement affects substrate uptake and distribution across the biofilm, as well as susceptibility to antimicrobial treatment.

Next, the authors carried out experiments to uncover the genetic determinants of the cellular arrangements within a biofilm at the microscale. To this end, they screened mutants that lacked crucial regulators of biofilm formation and physiology. Microscopy images of mixed biofilms of each mutant revealed that the vast majority of the mutants exhibited the striated cellular arrangement phenotype similar to that of the wild type. However, the analysis also showed that some biofilms had alterations to this lengthwise packing phenotype, and the authors found three additional phenotypes bundled, disordered and clustered. Specifically, cells defective in the production and function of the type IV pilus formed bundled biofilms, which suggests that an extendable and retractable pilus is required for the formation of the striations seen for wild-type biofilms. Moreover, cells lacking certain global gene expression regulators or cells with defects in O-antigen biosynthesis gave rise to the disordered phenotype. Finally, mutant cells that produced lipopolysaccharide without the O-antigen attached produced the clustered phenotype.

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Bacterial architects build the biofilm structures - Nature.com

Physiology

I’m a professor of physiology – here are 15 ways cyclists can avoid winter illness – CyclingWeekly

There are certain nagging questions in cycling that have a tendency to generate conflicting opinions and a confusing array of different views. In this ASK THE EXPERT series from Cycling Weeklys print edition, we seek to clear up confusion by seeking out the experts best qualified to provide, if not the final word, then at least authoritative advice supported by verified expertise.

Neil Walsh, a professor of physiology at Liverpool John Moores University, has been researching strategies to avoid immune suppression and infection among athletes for the past two decades. In this feature he answers our questions about immune health, how to avoid illness and how to stay healthy.

Firstly, what do we mean by immune health?

We would typically talk about resistance to infections how likely you are to pick up common colds and flu. What underpins this is immune defence, the barriers your body puts up, from your skin, to antibodies in your saliva and tears, which provide the first line of defence. The second line of defence are immune cells; and the third line of defence is the acquired immune system, which produces antibodies, responding to infectious organisms youve contracted before.

Does training hard compromise your immune system?

Interestingly, if youd asked me that question 10 years ago, Id have given you a different answer. We used to think that heavy exercise zapped the immune system and that the few hours after exercise were an open window for infections to get a foothold. But in the last 10 years, weve come around to the thinking that endurance athletes generally have very good immune systems. They have three common colds a year on average, which is very normal, and there is scant evidence that they are ever clinically immune-suppressed.

Is it OK to train with a cold?

Cyclists should employ common sense around this question. I still recommend the neck check: if you get up in the morning and have below-the-neck symptoms fatigue, inflammation, soreness, cough, etc you should not exercise until you feel better. There is good evidence that if you exercise with systemic symptoms below the neck, you are liable to protract the infection and make it worse.

1. Try to avoid sick people, e.g. crowded, poorly ventilated spaces.

2. Ensure good hand hygiene and get vaccinated.

3. Avoid self-inoculation try not to touch your eyes, nose and mouth.

4. Do not train or compete with below-the-neck symptoms.

5. Monitor and manage both physical and psychosocial stresses.

6. Carefully calibrate training stress by increasing it in increments.

7. Avoid very long rides in favour of higher intensity.

8. Plan recovery or adaptation week every second or third week.

9. Aim for at least seven hours of sleep each night.

10. Eat a well-balanced diet and be sure to avoid chronic low energy availability.

11. Match energy intake to expenditure; avoid crash dieting.

12. Ensure adequate protein intake (1.21.6g/kg body mass/day).

13. Take 1,000IU/day vitamin D3 from autumn to spring.

14. At the onset of a cold, take zinc acetate lozenges (75mg/day).

15 Consider taking a daily probiotic.

Source: Recommendations to maintain immune health in Athletes by Neil P. Walsh, European Journal of Sport Science

If exercise doesnt suppress the immune system, what does?

We know now that the things that make athletes more susceptible to infection are largely the same as in non-athletes. These include psychological stress, high levels of anxiety, poor sleep, poor hygiene, and long-haul travel. Autumn is the peak period for colds, while January is peak flu season. Riders need to think about their lifestyle in a holistic way, limiting their exposure to pathogens.

What practical steps can riders take to avoid illness?

Stop touching your nose, your eyes and your mouth something Ive said to the best cycling teams in the world. Get the basics right: good hygiene, not training when youre sick, and not returning to training until youve been free of symptoms for a day or two.

Hygiene includes regularly disinfecting bidons, right?

Yes, thats a really good point. Bottle hygiene is well worth considering. A poorly cleaned bottle is a really great place to grow pathogens! Wash them thoroughly after every use, and soak in a weak disinfectant solution such as Milton sterilising fluid from time to time.

Does exercise help maintain the immune system?

Yes, when you exercise regularly, you create an anti-inflammatory environment. Of course, sometimes you need inflammation for example, a runny nose or cough are signs of the immune system doing its job but you need a balance between the inflammatory and anti-inflammatory sides of the immune system. Cyclists tend to have less body fat, and thats good news because some of the immune cells in fat produce inflammatory cytokines. Individuals with excess fat are more pro-inflammatory, which is implicated in diabetes, cardiovascular disease, etc. Having better fitness and less fat means less inflammation.

Is eating too little or being too thin also a risk to immune health?

This is an extremely complicated area, with a really weird paradox. Patients with anorexia nervosa seem to be protected from infections until they get to the advanced stages of the condition as though the immune system is protected. Its an area that requires more research, but it is not clear-cut that limiting caloric intake harms the immune system in the short term.

What are the key nutritional considerations? Should we be taking any supplements?

The key thing is to ensure youre eating enough protein. This isnt usually an issue provided youre eating a mixed, balanced diet. In the winter, when we cant produce enough vitamin D from sunlight, taking a supplement is strongly advised. At the first sign of a common cold, zinc lozenges seem to shorten the period of symptoms, as well as their severity. Dont take zinc longer-term, though, unless you have a deficiency. There is some evidence that daily probiotics can have an immune benefit, while echinacea can be effective in people with weakened immune systems.

What have we learnt from Covid, in terms of social distancing and mask wearing?

Its difficult knowing where to draw the line. Avoiding being around sick people helps to reduce transmission. Hand-washing, not touching your face again, these basics are definitely worthwhile. We know that athletes are vulnerable to picking up illnesses during long-haul travel, which is mostly down to exposure. Masks seem to be more effective at preventing you from passing on a virus, rather than the other way around.

The full version of this article was published in the 18th January 2024 print edition of Cycling Weekly magazine. Subscribe online and get the magazine delivered to your door every week.

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I'm a professor of physiology - here are 15 ways cyclists can avoid winter illness - CyclingWeekly

Physiology

Understanding how natural genetic variation contributes to adaptive responses to low oxygen – News-Medical.Net

Humans are still evolving, and Tatum Simonson, PhD, founder and co-director of the Center for Physiological Genomics of Low Oxygen at University of California School of Medicine, plans to use evolution to improve healthcare for all.

Her latest research, which was published February 9, 2024 in Science Advances, reveals that a gene variant in some Andean people is associated with reduced red blood cell count at high altitude, enabling them to safely live high in the mountains in low-oxygen conditions. Simonson's UC San Diego lab is applying those findings toward understanding whether there may be a genetic component to why some people with sleep apnea or pulmonary diseases such as chronic obstructive pulmonary disease (COPD) fare better than others.

There are people with COPD who breathe a lot and maintain a higher oxygen saturation. Others with the same disease don't breathe as much, and their oxygen saturation is low. Researchers suspect there may be genetic differences underlying this variation, similar to the variation we find in pathways important for oxygen sensing and responses underlying natural selection at high altitude."

Tatum Simonson, PhD, founder and co-director of the Center for Physiological Genomics of Low Oxygen at University of California School of Medicine

Our cells need oxygen to survive. When there isn't enough in the environment, our bodies produce extra red blood cells, which transport oxygen throughout the body. Too many red blood cells, however, create a dangerous condition called excessive erythrocytosis (EE), which makes the blood viscous, which could lead to stroke or heart failure.

Her previous research showed that many mountain-dwelling Tibetans exposed to low-oxygen situations are born with innate mechanisms that protect them from poor outcomes at high altitude, including the overproduction of red blood cells. Part of this is due to changes in the regulation of the EPAS1 gene, which lowers hemoglobin concentrations by regulating the pathway that responds to changing oxygen levels. Advances in genetics have shown that modern Tibetans received this genetic advantage from their ancestors who mixed with archaic humans living in Asia tens of thousands of years ago-;a unique evolutionary history confined to this population.

For her latest research, Dr. Simonson, who is also the John B. West Endowed Chair in Respiratory Physiology and associate professor in the Division of Pulmonary, Critical Care, Sleep Medicine & Physiology at UC San Diego School of Medicine, zoomed in on the EPAS1 region of the genome. She and her team focused on a mutation in the gene that is present in some people living in the Andes but is absent in all other human populations. When they scanned whole Andean genomes, they found a pattern surrounding this variant suggesting that the genetic change, which alters only a single amino acid in the protein product, happened by chance, relatively recently (from 9,000 to 13,000 years ago), and spread very quickly through hundreds of generations within the Andean population.

Similar to Tibetans, the EPAS1 gene is associated with lower red blood cell count in Andeans who possess it. However, the researchers were surprised to find that the variant works in a completely different way from the Tibetan version of the gene; rather than regulating its levels, the Andean variant changes the genetic makeup of the protein, altering the DNA in every single cell.

"Tibetans have, in general, an average lower hemoglobin concentration, and their physiology deals with low oxygen in a way that doesn't increase their red blood cells to excessively high levels. Now we have the first signs of evidence that Andeans are also going down that path, involving the same gene, but with a protein-coding change. Evolution has worked in these two populations, on the same gene, but in different ways," said Simonson.

This study exemplifies a current approach in research that connects genetic targets of natural selection with complex disease genes-;understanding, for example, how natural genetic variation contributes to adaptive and maladaptive responses to low oxygen, as this study reveals.

In Simonson's lab, that means figuring out what downstream target genes are being turned on in response to low oxygen, among other things. Said Simonson, "This paper shows one gene associated with one particular phenotype, but we think there are many different genes and components of oxygen transport involved. It's just one piece of that puzzle, and could provide researchers with information relevant to other populations."

Simonson and her team are working with Latino populations in San Diego and El Centro, California, as well as Tijuana and Ensenada, Mexico, taking them to high altitudes and recording their breathing while awake and asleep. They're cross-referencing their findings with publicly available databases to determine whether the findings they've made in Andeans are also found in local Latinos who may share some genetic variants with the Andeans.

"In precision medicine, it's important to recognize variation in genetic backgrounds, specifically in historically understudied populations," Simonson said. "If we can find some shared genetic factors in populations in an extreme environment, that may help us understand aspects of health and disease in that group and groups more locally. In that way, this study aims to push research forward, and towards comprehensive personalized medicine approaches in clinics here in San Diego."

Co-authors of the study include: Elijah S. Lawrence, Wanjun Gu, James J. Yu, Erica C. Heinrich, Katie A. O'Brien, Carlos A. Vasquez, Quinn T. Cowan , Patrick T. Bruck , Kysha Mercader, Mona Alotaibi, Tao Long, James E. Hall, Esteban A. Moya, Marco A. Bauk, Jennifer J. Reeves, Mitchell C. Kong, Rany M. Salem, Keolu P. Fox, Atul Malhotra, Frank L. Powel, Mohit Jain and Alexis C. Komor at UC San Diego, Ryan J. Bohlender, Hao Hu and Chad D. Huff at University of Texas MD Anderson Cancer Center, Cecilia Anza-Ramirez, Gustavo Vizcardo-Galindo , Jose-Luis Macarlupu , Rmulo Figueroa-Mujca, Daniela Bermudez, Noemi Corante and Francisco C. Villafuerte at Universidad Peruana Cayetano Heredia, Eduardo Gaio at Universidad de Braslia, Veikko Salomaa and Aki S. Havulinna at Finnish Institute for Health and Welfare and Andrew J. Murray at Cambridge University and Gianpiero L. Cavalleri at Royal College of Surgeons in Ireland.

This study was funded, in part, by the National Institutes of Health (Grants R01HL145470 [TSS] and T32HL134632 [JEH]), Geographic Society Explorer Award, and John B West Endowment in Respiratory Physiology (TSS), Wellcome Trust Award 107544/Z/15/Z (FCV), Marie Skodowska-Curie grant agreement No 890768 (KAO), National Academies of Sciences, Engineering, and Medicine Ford Foundation Fellowship (CAV), National Science Foundation Grant No DGE-2038238 (PTB), Research Corporation for Science Advancement through Cottrell Scholar Award 27502 (ACK), Science Foundation Ireland 12/IP/1727 (GLC), Finnish Foundation for Cardiovascular Research and Juho Vainio Foundation (VS), and Academy of Finland (ASH).

Source:

Journal reference:

Lawrence, E. S., et al. (2024). FunctionalEPAS1/HIF2Amissense variant is associated with hematocrit in Andean highlanders.Science Advances. doi.org/10.1126/sciadv.adj5661.

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Understanding how natural genetic variation contributes to adaptive responses to low oxygen - News-Medical.Net

Physiology

‘From slow visual feedback to real-time plant physiology’ – Verticalfarmdaily.com: global indoor farming news

Visual feedback of the plant structure is too slow for real-time optimization of the growing climate. Gardin measures photosynthesis, the most fundamental physiological process in the plant that is directly related to the assimilation of sugars for growth says Julian Godding, Lead data scientist at Gardin, a UK agritech.

Measuring photosynthesis in growing environments Growers are constantly trying to understand how the environment affects their plants and respond quickly to mitigate variability and achieve production targets. However, visual feedback from plants is slow - taking days or even weeks to materialize. This severely limits the potential for data-driven growing since several variables may impact the crop within that period. Chlorophyll fluorescence monitors the photosynthetic activity of the plant and is a powerful technique that has been used in plant research for decades.

However, deployment in commercial farms has been limited because of high costs, a lack of automation and a gap in technical knowledge. It is well known that photosynthesis is the fundamental process in plant growth, making the technique a good indicator of how the growing environment is impacting plant productivity. Gardins novel chlorophyll fluorescence sensor is designed for use in commercial farms. It uses advanced optical engineering to autonomously measure hundreds of plants throughout the day and employs algorithms to deliver interpretable insights to growers.

Real-time plant feedback Over the past two years, Gardin has been undertaking research funded by InnovateUK in partnership with the Advanced Plant Centre, hosted at the James Hutton Institute, and Intelligent Growth Solutions. The project explored the potential for chlorophyll fluorescence to be used as a technique for plant-driven optimization in CEA.

Whether due to the outdoor climate in a greenhouse or the impact of microclimates in indoor farms, growth environments for food production are constantly changing. Small changes in temperature and humidity can have a significant impact on plant outcomes, affecting yield and quality; and making it harder for growers to meet their targets Tevan et al, 2021 - The left side image shows an RGB capture of the plant canopy, right side image shows a thermal capture of the same plants. The brighter color indicates a higher temperature.

For the first time, Gardins sensors have enabled us to remotely explore plant activity in an industrial setting. This invention has been a significant milestone in our quest to optimize recipe development and is crucial for creating the optimal plant environment, says Csaba Hornyik, Senior Plant Scientist at Intelligent Growth Solutions.

Until now, growers could not measure the effect of the climate on plant physiology in real-time and at scale using cost-effective sensors, instead having to rely on visual parameters such as height, with limited resolution and flexibility.

Gardin's technology gives growers access to quantified measurements of plant photosynthesis, enabling a new method of growing that uses plant-driven insights to achieve better results. Julian explains that in most other industries, there is an obsession with measuring product quality. However, in agriculture, growers often rely on indirect indicators like temperature and humidity, as plant physiology is hard to measure accurately at scale. Gardin aims to bridge this gap and establish a growth method based on direct feedback from the plants."

Moustakas et al, 2022

By linking the climate to the plants, Gardin aims to consolidate all environmental variables into simple plant insights that enable rapid optimization of the growing environment and validating this approach was one of the key aims of the research. To achieve this, the photosynthetic activity of several species was measured in a controlled indoor growth environment with artificial lighting.

More than fifty batches of plants were grown with different light intensities while maintaining the same overall climate but with the presence of microclimates. The fertigation strategy was adjusted at one point, and there were variations in germination density. This reflects the reality of production environments - continuous improvement was a great test for the ability of chlorophyll fluorescence to flexibly monitor plants under different conditions and clearly distinguish their photosynthetic performance.

The results showed Gardins measurements of photosynthetic efficiency correlating well with the fresh weight (kg/m2/annum) and productivity (kg/m2/kWh) of each batch of plants. In other words, Gardin's photosynthesis measurements could effectively explain 50% of the variability in productivity across hundreds of kilos of plant product using a simple metric that is generalizable for any cultivar. This capability to directly measure plant productivity is a step change in agriculture, accelerating the grower feedback loop from weeks to mere minutes. Moreover, Gardin's capacity to measure across a broad canopy area assures growers that they are optimizing their entire farm's productivity and quality.

In addition, the James Hutton Institute conducted a nutritional analysis to study the impact on food quality. In an exciting development, it was discovered that basil plants with lower stress levels, as measured by the Gardin sensor, had lower concentrations of estragole - a carcinogenic and genotoxic compound that causes an unfavorable aniseed taste.

These exciting findings underscore the significance of reducing plant stress events in growing environments to the benefit of consumers. The project is an elegant illustration of what can be achieved by using Gardins real-time metrics as an optimization parameter - were very excited to see more and more growers adopt them to improve the productivity of their farm. The James Hutton brings experience to the complex task of plant nutritional analysis and allowed us to make novel discoveries linking the growing environment to the nutritional content of leafy greens. notes Fabrizio Ticchiarelli, Lead Biologist at Gardin.

Plant driven growing Gardin Pulse is a farm management product designed for commercial growers. It serves as a tool for rapidly optimizing growing environments with confidence. Proprietary analytics provide instant insight into farm performance, visualizing the impact of a changing environment and enabling rapid testing of different climate strategies to achieve the best results. With energy prices currently a key concern of growers, Gardin Pulse offers a solution for growers to determine energy savings strategies with optimal lighting and heating control for the plants.

Julian Godding, Lead data scientist at Gardin will be presenting 'Plant Computer: the next generation of greenhouse cultivation' at the Startup Arena Hall 5.1 at the Fruit Logistica this week.

For more information: Gardin http://www.gardin.co.uk

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'From slow visual feedback to real-time plant physiology' - Verticalfarmdaily.com: global indoor farming news

Physiology

The Future of Space Biology, Physiology, and Medicine: Exploring the Effects of Gravity on Human Cells – Medriva

Understanding the Effects of Gravity on Human Cells

Space biology, space physiology, and space medicine are rapidly evolving fields that hold the key to our future in space. As we dream of establishing human colonies on the Moon and Mars, it is crucial to understand how the human body adapts to different levels of gravity. The proposed research activities aim to fill the gaps in our knowledge of how cells adapt to microgravity, partial gravity (on the Moon and Mars), and hypergravity.

The research involves studying mechano-biological coupling mechanisms and exploring tissue-like responses to gravity alterations using 3D models. The effects of gravity on cell cycle regulation, DNA repair, and stress response are also areas of focus. A key aspect of the research is investigating the interplay between altered gravity and space radiation. The studies will be conducted using various platforms such as the International Space Station (ISS), parabolic flights, centrifuges, and on-ground systems.

One of the challenges in space medicine is the diagnosis of deep vein thrombosis (DVT) during spaceflight. A study highlighted in Nature discusses the use of ultrasound for venous assessment and venous thrombosis screening in spaceflight. The study emphasizes the need to establish the validity of venous ultrasound for the diagnosis of DVT during spaceflight and the challenges in diagnostic accuracy and management studies.

Microgravity related changes may confound the diagnosis of DVT, and the effect of venous interventions to reverse them needs to be identified. The study calls for future research to account for microgravity related changes, evaluate the individual effect of venous interventions, and adopt Earth-based venous ultrasound standards.

A similar study published in the National Library of Medicine also highlights the challenges of diagnosing and managing DVT in space. The study developed an appropriateness tool following expert panel discussions but found that spaceflight venous ultrasound did not meet all appropriateness criteria compared to terrestrial standards.

The Human Biology News page on ScienceDaily provides updates on the latest research activities and findings in human biology, including space physiology, space medicine, and space biology. Following such resources can help us stay updated with the progress in this field.

As we move closer to becoming a multi-planetary species, understanding the effects of altered gravity on human biology, physiology, and medicine is crucial. The proposed research activities aim to add to our knowledge in these areas and help us prepare for a future in space. The challenges in diagnosing and managing health conditions in space underline the need for continued research and development in space medicine.

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The Future of Space Biology, Physiology, and Medicine: Exploring the Effects of Gravity on Human Cells - Medriva

Biochemistry

Commonwealth University biochemistry and pre-medicine concentrations accredited – Lock Haven Express

PHOTO PROVIDED Michael Borland, biochemistry and chemistry professor and ASBMB Education Fellow, is pictured teaching in a lab.

LOCK HAVEN Commonwealth University of Pennsylvanias Department of Biochemistry, Chemistry, Engineering, and Physics (BiCEP) has earned accreditation from the American Society of Biochemistry and Molecular Biology (ASBMB) for two Bachelor of Science in Chemistry degree concentrations: biochemistry and pre-medicine.

The seven-year full accreditation applies across the Bloomsburg, Lock Haven and Mansfield campuses in recognition of their excellence in curriculum, institutional characteristics and faculty qualifications. The accreditation enables graduating seniors to take the national ASBMB accreditation exam and demonstrate their proficiency in biochemistry and molecular biology on a national stage.

The ASBMB applauded our efforts to engage students in research/internship, use of active/experiential learning opportunities and program assessment, said Michael Borland, biochemistry and chemistry professor and ASBMB Education Fellow. Borland (Bloomsburg) led Commonwealths accreditation effort with departmental colleagues Toni Bell (Bloomsburg), Maegen Borzok (Mansfield), Kyle Root (Lock Haven) and Jackie Dumm (Lock Haven).

Borland also emphasized that this accreditation strengthens the Commonwealth University academic array and prepares students for industry positions, graduate school or professional schools such as in medicine or dentistry. We are excited about the opportunities our updated curriculum provides to create well-rounded, literate and competent scientists and/or medical professionals. Our curriculum, with professors teaching all lecture and lab courses, is grounded in best practices; it provides high-impact experiential laboratory learning and a learning community/network to help students attain their professional aspirations, said Borland.

Congratulations to Dr. Michael Borland and his colleagues in Commonwealth Universitys chemistry, biochemistry and pre-medicine programs for earning ASBMB accreditation. This achievement will provide important opportunities for our current and future students, and I thank our faculty for their work to enhance our students experience, said Bashar W. Hanna, president.

The ASBMB is the premier professional organization in biochemistry and molecular biology and provides national, independent and outcomes-based evaluations of institutions and programs. To date, just over 100 B.A. and B.S. programs nationwide have earned accreditation since inception in 2013. Bloomsburg campus was accredited by ASBMB in 2014 and was the first Pennsylvania State System of Higher Education (PASSHE) institution to earn this distinction. Accreditation by independent professional organizations assists biochemistry and molecular biology educators in meeting the growing demand from collegiate accrediting bodies, university administrators, and other stakeholders for regular outcomes assessment.

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Commonwealth University biochemistry and pre-medicine concentrations accredited - Lock Haven Express