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Air pollution may increase risk of dementia, complicated by genetics – Science Daily

Three years ago, an international study commissioned by the journal Lancet listed 12 modifiable factors that increased the risk of dementia, including three new ones: excessive alcohol, head injury and air pollution.

Writing in the May 2, 2023 issue of the Journal of Alzheimer's Disease, a team of researchers, led by scientists at University of California San Diego, further elaborate on how exposure to the last of those new factors -- ambient air pollution, such as car exhaust and power plant emissions -- is associated with a measurably greater risk of developing dementia over time.

Senior author William S. Kremen, PhD, professor of psychiatry and co-director of the Center for Behavior Genetics of Aging at UC San Diego School of Medicine, and colleagues examined baseline cognitive assessments of approximately 1,100 men participating in the ongoing Vietnam Era Twin Study of Aging. Average baseline age was 56, with 12 years of follow up.

They additionally looked at measures of exposure to particular matter (PM2.5) in the air and nitrogen dioxide (NO2), which is created when fossil fuels are burned, and assessments of episodic memory, executive function, verbal fluency, brain processing speed and APOE genotype.

APOE is a gene that provides instructions for making a protein crucial to the transport of cholesterol and other fats in the bloodstream. One version or allele of APOE called APOE-4 has been identified as a strong risk factor gene for Alzheimer's disease.

The researchers found that participants with higher levels of exposure to PM2.5 and NO2 in their 40s and 50s displayed worse cognitive functioning in verbal fluency from age 56 to 68. And persons with the APOE-4 allele appeared even more sensitive, with those exposed to higher PM2.5 levels showing worse outcomes for executive function and those with higher NO2 exposure showing worse outcomes involving episodic memory.

Executive function refers to higher-level cognitive skills used to plan, control and coordinate mental behaviors and acts. Episodic memory is the ability to recall and re-experience distinct, specific past events.

"The 2020 Lancet report concluded that modifying 12 risk factors, which include others like education and depression at midlife, could reduce dementia incidence by as much as 40%," said first author Carol E. Franz, PhD, professor of psychiatry and co-director of the Center for Behavior Genetics of Aging.

"That report placed ambient air pollution as a greater risk for Alzheimer's and related dementias than diabetes, physical activity, hypertension, alcohol consumption and obesity. Our findings underscore the importance of identifying modifiable risk factors as early in life as possible -- and that the processes by which air pollution affects risk for later-life cognitive decline begins earlier than previous studies suggest."

Co-authors include: Daniel E. Gustavson, University of Colorado Boulder; Jeremy A. Elman, Christine Fennema-Notestine, Donald J. Hagler, Jr., Xin M. Tu, Tsung-Chin Wu and Nathan Whitsell, all at UC San Diego; Aaron Baraff, VA Puget Sound Health Care, Seattle; Jaden DeAnda, UC San Diego and San Dieog State University; Asad Beck and Joel D. Kaufman, University of Washington; Caleb E. Finch and Jiu-Chiuan Chen, University of Southern California; and Michael J. Lyons, Boston University.

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Air pollution may increase risk of dementia, complicated by genetics - Science Daily

promotes five faculty members in genetics, structural biology … – Salk Institute

April 28, 2023 April 28, 2023

LA JOLLAFive Salk Institute faculty members have been promoted for their notable, innovative contributions to science. These faculty members have demonstrated leadership in their disciplines, pushing the boundaries of basic scientific research. Assistant Professors Sung Han, Dmitry Lyumkis, and Graham McVicker were promoted to associate professors, and Associate Professors Sreekanth Chalasani and Ye Zheng were promoted to professors. The promotions were based on Salk faculty and nonresident fellow recommendations and approved by Salks president and Board of Trustees on April 21, 2023.

Sung, Dmitry, Graham, Shrek, and Ye have all made significant advances in their respective fields, with discoveries that span a range of scientific disciplines and reflect the creativity that is central to Salks identity, says Salk President Gerald Joyce. We are eager to see what they accomplish next.

Sung Han, holder of the Pioneer Fund Developmental Chair, works to understand how the brain recognizes environmental threats and sends signals that change physiology, metabolism, behavior, and emotion to avoid those threats. When this threat signaling pathway goes awry, it can create hypersensitivity, a characteristic of neuropsychiatric disorders, such as post-traumatic stress disorder (PTSD), as well as other panic and anxiety disorders. He recently uncovered a molecular pathway that initiates a fear response and described the connection between feelings of fear and breathing rhythm. Han also works to understand the science behind overdoses, which led to his discovery of a group of neurons that play a key role in the disrupted breathing that is often characteristic of overdose deaths.

Dmitry Lyumkis, holder of the Hearst Foundation Developmental Chair, investigates the mechanisms by which biological invaders (pathogens), like viruses, interplay with their hosts to establish and maintain infection. His lab uses multidisciplinary biophysical techniques centered around cryo-electron microscopy to understand how viral and host proteins assemble, interact, and produce diverse functional outcomes. Understanding the form and function of proteins helps unravel the complex roles they play in viral infections and in human diseases, such as cancer, and informs therapeutic strategies to target those diseases. He recently determined the molecular structure of HIV Pol, a protein that plays a key role in the late stages of HIV replication when the virus begins spreading throughout the body.

Graham McVicker, holder of the Frederick B. Rentschler Developmental Chair, studies how human genetic differences, known as genetic variants, affect traits and diseases. In the past decade, thousands of genetic variants have been associated with human diseases. However, the function of most of these variants is unknown and difficult to determine, since they are often in what are called noncoding portions of the human genome. Noncoding regions do not provide instructions for making proteins that enable cell function. Instead, research suggests they influence when and where (under which conditions and in which cell types) specific proteins are made by the coding portions of the genome. McVicker uses CRISPR and computational analysis to understand the function of each genetic variant in every cell type, with a particular focus on understanding cancer and diseases related to the immune system. His long-term goal is to reveal novel disease mechanisms that could support the development of personalized therapies. He was recently awarded a Curebound Discovery Grant and a Genomic Innovator Award.

Sreekanth Chalasani studies how animals make complex strategic decisions, such as balancing the quest for food with territorial defense and predator avoidance. His work has revealed the brain circuits that underlie these complex decisions. He also uses worm and mouse models to pinpoint the differences between healthy and dysfunctional brains, make inferences about the human brain, and shed light on conditions like autism spectrum disorder, post-traumatic stress disorder (PTSD), anxiety, and depression. He recently discovered how hunger signals in the gut communicate with the brain, and identified the cells and connections in the brain that facilitate decision making. Additionally, he engineered mammalian cells to be activated by sonogenetics, paving the way for other non-invasive versions of deep brain stimulation, pacemakers, and insulin pumps.

Ye Zheng studies the immune system dysfunction that causes inflammation and autoimmune disorders like rheumatoid arthritis, multiple sclerosis, type 1 diabetes, and asthma. Zheng focuses on regulatory T cells, which control immune responses and whose dysfunction has been linked to multiple autoimmune diseases. By looking at the genes that control regulatory T cells, he hopes to find new ways to manage T cell dysfunction and inspire future therapeutics. Recently, Zheng found a new target for alopecia treatment by discovering that regulatory T cells communicate with hair follicles to enable hair regeneration. Additionally, when looking at allergic skin inflammation in mice, he found that obesity changes the molecular underpinnings of allergic reactionsa finding that may have implications for allergies in humans, too.

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promotes five faculty members in genetics, structural biology ... - Salk Institute

Offering genetic testing at the point of care may increase uptake – Medical Xpress

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Genetic testing for hereditary cancers, such as breast, colon, pancreatic, and ovarian cancer, helps at-risk individuals understand their familial risk for these diseases and make informed decisions about next steps in care. But fewer than 20 percent of at-risk patients utilize this testing, and even fewer engage in genetic counseling after referral, often due to clinical workflow challenges or barriers to care.

Amid national efforts to increase access to genetic testing, a new study led by a Boston University School of Public Health researcher has identified a streamlined approach in clinical settings that may help advance these efforts by simplifying the process of identifying hereditary cancer risk and determining subsequent care.

Published in the journal Genetics in Medicine, the study measured patient uptake of genetic testing in clinical practices that implemented a digital cancer risk assessment across different clinical workflow models, including a traditional referral, point-of-care scheduling, point-of-care counseling, and point-of-care genetic testing.

The findings showed that clinical practices that combined a digital cancer risk assessment along with point-of-care testing more than doubled the average uptake of genetic testing. While this streamlined strategy shows promise for cancer prevention and detection, the researchers say more work needs to be done to increase utilization of these valuable services.

"This study is one of the largest to show the possible advantages of a scalable mainstreamed approach to facilitating greater uptake of genetic testing across a variety of clinical settings," says study lead and corresponding author Dr. Catharine Wang, associate professor of community health sciences at BUSPH. "In spite of this advantage, however, overall testing rates varied widely among sites deploying this approach, suggesting that there is still much room for improvement."

For the study, Dr. Wang and colleagues from BUSPH and digital healthcare company CancerIQ, Inc. analyzed data among approximately 33,000 high-risk patients (out of more than 100,000 screened) who met genetic testing criteria for breast and ovarian cancer, and/or Lynch syndrome, an inherited disorder that increases risk for many types of cancer. Providers in 27 health centers or primary care/specialty offices conducted a hereditary cancer risk assessment using the CancerIQ digital precision prevention platform that optimizes clinical workflow through a range of automated processes, including gathering data and categorizing patients into different risk tiers, streamlining the genetic counseling and testing process, and creating personalized care plans.

In the traditional referral workflow, patients were referred to a genetic specialist who called to schedule an appointment; with point-of-care scheduling, they scheduled testing with a specialist immediately during their appointment; with point-of care counseling, the patients were offered an immediate consult by with a specialist; and with point-of-care testing, they were offered immediate genetic testing once they were determined to be at risk.

On average, 16 percent of high-risk patients opted for genetic testing overall, from 35 percent of patients at offices that implemented the point-of-care testing workflow, to just 6 percent of patients at offices utilizing the referral process. The point-of-care testing model enables doctors to educate and discuss the testing with patients directly, rather than necessitate an additional pretest appointment with a genetic counselor.

The researchers say further work should address continued challenges with this workflow, such as physicians' hesitation to order tests or counsel patients, and patients' concerns about insurance coverage.

"We still have a lot of learn about best practices for increasing access to cancer genetic services, particularly among patients who are medically underserved and face numerous logistical and structural barriers to accessing care," Dr. Wang says. "Given these current constraints, it is important to examine alternate models of care delivery, and this study suggests that point-of-care testing is an effective delivery model for improving genetic testing outcomes."

The senior author of the study is Dr. Ziming Xuan, professor of community health sciences at BUSPH. The study was coauthored by Haibo Lu, cofounder and chief data officer of Cancer IQ, and the late Dr. Deborah Bowen, who was a professor in the Department of Bioethics and Humanities at the University of Washington School of Medicine.

More information: Catharine Wang et al, Implementing digital systems to facilitate genetic testing for hereditary cancer syndromes: An observational study of 4 clinical workflows, Genetics in Medicine (2023). DOI: 10.1016/j.gim.2023.100802

Journal information: Genetics in Medicine

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Offering genetic testing at the point of care may increase uptake - Medical Xpress

CS Genetics Appoints Jeremy Preston, PhD, as Chief Executive Officer – PR Newswire

Appointment as part of leadership transition with former CEO and Founder, Luke Edelman, appointed as Chief Technology Officer.

SAN DIEGO, Calif. and CAMBRIDGE, England, May 2, 2023 /PRNewswire/ --CS Genetics, a privately held genomics-technology company, today announced the appointment of Jeremy Preston, PhD, as Chief Executive Officer, after serving as Chief Commercial Officer for the past 14 months. Luke Edelman, former CEO and Founder, will move into the newly-created role of Chief Technology Officer.

Jeremy joined CS Genetics in 2022 after almost two decades in the genomics industry including thirteen years at Illumina, where he held senior leadership positions across sales, marketing, and product management and played a major role in commercializing many of the most rapidly-adopted and widely-used products in genomics.

CS Genetics has developed a next-generation instrument-free platform for single cell genomics that leverages a molecular process known as Kinetic Confinement to produce simple, scalable, and accessible workflows that plug seamlessly into standard lab infrastructure. This disruptive platform will expand the reach of single cell genomics to major underserved segments such as new-to-single cell customers and biopharma, and significantly broaden the use of single cell as a tool for scientific discovery.

"I'm exceptionally excited to hand over the leadership to Jeremy, whose experience launching best-in-class genomic tools will supercharge our growth trajectory through the coming years. I'm also very excited to assume my new role to lead our technology vision and roadmap, our intellectual property strategy, and a newly-formed group focussed on strategic partnerships and collaborations called "CS Labs". With this transition and the recent closing of significant financing, I'm confident we'll establish our platform as a new technology standard in single cell and beyond" said Luke Edelman, founder and Chief Technology Officer at CS Genetics.

"After interacting with him over the last several quarters, it's clear that Jeremy is the right leader to take us forward. He's an exceptionally collaborative, team-based leader who naturally inspires a positive and supportive culture. With his unique combination of domain knowledge, network in the genomics community and industry-recognized leadership, Jeremy has the skills and experience to take CS Genetics to the next level as we strive to become a leading technology platform provider in single cell genomics" said Tim Wright, Board Member and General Partner at Time BioVentures.

"Luke has done a tremendous job inventing our core technology and taking it from scientific vision to pre-commercial product, laying the foundations of the company. I'm honored to take the reins from Luke and partner with him to build out CS Labs, which will become an engine for rapid technology innovation, high-value collaborations and strategic partnerships. This is an exciting next step in my career and I look forward to commercializing our first products and establishing our platform as the everyday standard for single cell discovery" said Jeremy Preston, Chief Executive Officer at CS Genetics.

About CS Genetics

CS Geneticsis a privately held genomics-technology company based in San Diego, California and Cambridge, UK. The company's product portfolio leverages instrument-free, solution-phase chemical biology that is categorically different to other single cell technologies, providing a clear commercial path globally without the extensive, multi-prong litigation risks borne by other platforms within the single cell market. The company holds a large global intellectual property estate covering its single cell platform and related reagent, workflow, manufacturing and application technologies. For more information, please contact [emailprotected].

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CS Genetics Appoints Jeremy Preston, PhD, as Chief Executive Officer - PR Newswire

Did ‘deleted’ bits of genetic info make us human? – Futurity: Research News

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Information deleted from the human genome may be what made us human, research shows.

What the human genome is lacking compared with the genomes of other primates might have been as crucial to the development of humankind as what has been added during our evolutionary history, according to a new study.

The new findings, published in the journal Science, fill an important gap in what is known about historical changes to the human genome. While a revolution in the capacity to collect data from genomes of different species has allowed scientists to identify additions that are specific to the human genomesuch as a gene that was critical for humans to develop the ability to speakless attention has been paid to whats missing in the human genome.

For the new study, researchers used an even deeper genomic dive into primate DNA to show that the loss of about 10,000 bits of genetic informationmost as small as a few base pairs of DNAover the course of our evolutionary history differentiates humans from chimpanzees, our closest primate relative. Some of those deleted pieces of genetic information are closely related to genes involved in neuronal and cognitive functions, including one associated with the formation of cells in the developing brain.

These 10,000 missing pieces of DNAwhich are present in the genomes of other mammalsare common to all humans, researchers find.

The fact that these genetic deletions became conserved in all humans, the authors say, attests to their evolutionary importance, suggesting that they conferred some biological advantage.

Often we think new biological functions must require new pieces of DNA, but this work shows us that deleting genetic code can result in profound consequences for traits make us unique as a species, says Steven Reilly, an assistant professor of genetics at Yale University School of Medicine and senior author of the paper.

The paper was one of several published in Science from the Zoonomia Project, an international research collaboration that is cataloging the diversity in mammalian genomes by comparing DNA sequences from 240 species of mammals that exist today.

In their study, the Yale team found that some genetic sequences found in the genomes of most other mammal species, from mice to whales, vanished in humans. But rather than disrupt human biology, they say, some of these deletions created new genetic encodings that eliminated elements that would normally turn genes off.

The deletion of this genetic information, Reilly says, had an effect that was the equivalent of removing three charactersntfrom the word isnt to create a new word, is.

[Such deletions] can tweak the meaning of the instructions of how to make a human slightly, helping explain our bigger brains and complex cognition, he says.

The researchers used a technology called Massively Parallel Reporter Assays (MPRA), which can simultaneously screen and measure the function of thousands of genetic changes among species.

These tools have the capability to allow us to start to identify the many small molecular building blocks that make us unique as a species, Reilly says.

Researchers at Yale and the Broad Institute of MIT and Harvard led the study.

Source: Yale University

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Did 'deleted' bits of genetic info make us human? - Futurity: Research News

How we got our big brains — missing genetic information and a … – ZME Science

Its not what we have, but what we dont have. A team of researchers from the US has found that the human genome lacks some key aspects compared with the genomes of other primates. According to their new study, this could have played an equally important role in the development of human beings. In other words, what we lost from our genome may be just as important as the genetic additions that occurred during our evolutionary history.

The study fills a big gap in whats known about changes to the human genome. Over time, scientists have been able to identify unique additions to the human genome, including a gene that played a crucial role in the development of human speech. However, much less attention has been given to whats absent from the genome.

Often we think new biological functions must require new pieces of DNA, but this work shows us that deleting genetic code can result in profound consequences for traits make us unique as a species, Steven Reilly, an assistant professor of genetics at Yale School of Medicine and senior author of the paper, said in a statement.

Its been two decades since the initial rough draft of the human genome, consisting of three billion genetic letters of DNA coiled up inside the majority of our cells, was compiled by scientists. Despite this lengthy period, researchers are still facing challenges in deciphering it. Now, a new research endeavor aims to tackle some of these issues.

Researchers at Yale and the Broad Institute of MIT and Harvard looked at primate DNA and found the loss of about 10,000 bits of genetic information over our evolutionary history differentiates humans from chimpanzees our closest primate relative. Some of these bits relate to genes involved in neuronal and cognitive functions, the team said.

However, certain genetic deletions didnt interfere with human biology, the researchers said. Instead, they produced novel genetic codes that removed elements that typically suppress gene expression. Reilly compares this process to removing three characters nt from the word isnt to create a new word, is.

The researchers used a technology known as Massively Parallel Reporter Assays. It enables the screening and measurement of the function of genetic changes across various species. According to Reilly, this tool can help in identifying the multiple molecular small components that contribute to our distinctiveness as a species.

The study was one of several published by the Zoonomia Project, a research partnership that catalogs the diversity in genomes by comparing DNA sequences from 240 species of mammals that exist today. One of the papers, for example, focused on how we can use DNA information to predict which species are more likely to face extinction.

Altogether, the database from the Zoonomia Project is actually a starting point to better understand what makes us human. We are identifying segments unchanged across all species, as well as segments changed in just a few, and discovering both the genomic basis of traits essential for all animals, the researchers wrote on the projects website.

The study was published in the journal Science.

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How we got our big brains -- missing genetic information and a ... - ZME Science

Animal Genetics Market 2022, Drivers, Challenges, And Impact On Growth and Demand Forecast in 2029 – openPR

Global Animal Genetics Market Analysis and SizeThe market for animal genetics is estimated to increase rapidly over the forecast period. One of the pillars of livestock development is animal genetics (adjacent animal health, animal nutrition, and husbandry issues such as housing). It is a broad field that includes local, national, regional, and global activities, ranging from characterization to conservation to genetic development. Actions made to reduce the loss of genetic variety in livestock populations, such as conserving breeds from extinction, are referred to as conservation of animal genetic resources. Therefore, these factors will enhance the demand for animal genetics in the market.

Data Bridge Market Research analyses that the animal genetics market was valued at USD 5.5 billion in 2021 and is expected to reach USD 11.16 billion by 2029, registering a CAGR of 9.25% during the forecast period of 2022 to 2029. The market report curated by the Data Bridge Market Research team includes in-depth expert analysis, patient epidemiology, pipeline analysis, pricing analysis, and regulatory framework.

Get a sample of the reporthttps://www.databridgemarketresearch.com/request-a-sample/?dbmr=global-animal-genetics-marketCompetitive Landscape and Animal Genetics Market Share AnalysisThe Animal genetics market competitive landscape provides details by competitor. Details included are company overview, company financials, revenue generated, market potential, investment in research and development, new market initiatives, global presence, production sites and facilities, production capacities, company strengths and weaknesses, product launch, product width and breadth, application dominance. The above data points provided are only related to the companies' focus related to animal genetics market.

Some of the major players operating in the animal genetics market NEOGEN CORPORATION (U.S.), Genus (U.K.), URUS (U.S.), E.W. Group (Germany), Groupe Grimaud (France), Topigs Norsvin (Netherlands), Zoetis (U.S.), Envigo (U.S.), Hendix Genetics B.V. (Netherlands), Animal Genetics Inc. (U.S.), VetGen (U.S.), DanBre (Denmark), Tropical Bovine Genetics (India), Trans Ova Genetics (U.S.), Inguran LLC dba STgenetics (U.S.), Semex (Canada), Cobb-Vantress (U.S.), Milk Source (U.S.), Eurogene AI Services (Ireland), CRV Holding B.V. (Netherlands), E.W. Nutrition GmbH (Germany), Trans Ova Genetics. (U.S.), Beacon Automation Pty Ltd. (Australia), Cogent (U.S.), Genex Services, LLC (U.S.), ABS GLOBAL, INC. (U.S.), Anicam Enterprises Inc. (U.S.), and Milk Source. (U.S.), among others.

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Animal Genetics Market 2022, Drivers, Challenges, And Impact On Growth and Demand Forecast in 2029 - openPR

Exploring the dynamics of the scientific method in genetic coding – Open Access Government

Professor Charles Carter trained as a macromolecular X-ray crystallographer with Joseph Kraut at UCSD and with Aaron Klug at the Medical Research Council Laboratory of Molecular Biology in Cambridge, UK.

As the image suggests, the dynamics of the scientific method fascinate Professor Carter. His research has contributed broadly to structural biology, experimental design, mechanistic enzymology energetic coupling within proteins, bioinformatics, and evolutionary biology the origin of genetic coding.

Most processes of experimental interest depend on multiple factors. Often different factors interact. These interactions are hard to sort out. My father introduced me to factorial experimental design when screening for crystal growth. He taught me to minimize the aliasing of fractional factorial designs. Our paper (1) inspired all subsequent screening for crystal growth. It remains my most cited paper.

Phase permutation (2) established the value of sampling by producing high-accuracy phases using only 1% of the possible combinations. Neal Sloane (Bell Labs) introduced me to response surface experiments, allowing us to explore the neighborhood of optima (3,4). The latter work identified an unexpected aspect of mRNA editing by the cytidine deaminase APOBEC1: a protein co-factor reduced the optimal temperature from 42 C to 37 C, the temperature at which humans live!

Structural biology studies of tryptophanyl-tRNA synthetase led us to study how the enzymes that translate the genetic code evolved (5,6). We used the protein design program, Rosetta to engineer the most conserved segments of both Class I and II aaRS as soluble catalysts.

The resulting constructs have ~130 residues (7). We call them urzymes. They speed up amino acid activation 109-fold and retain the amino acid activation and tRNA acylation functions necessary to translate a simple code (8).

Protozymes (46-residues) are smaller constructs nested within urzymes. They accelerate amino acid activation 106-fold (9). The catalytic proficiency of the two aaRS Classes increases linearly with sequence length (9). Such parallel improvements are key to synchronizing the different chemical reactions in cells as enzyme sophistication increases.

Several biophysical measurements suggest that urzymes are catalytically active molten globules (10). Thus, the first biological catalysts likely were flexible, partially folded polypeptides that could transiently form tight bonds to chemical reaction transition states.

We confirmed three predictions of the curious hypothesis (11) that ancestral Class I and II aaRS genes were opposite strands of the same gene. (i) The most highly conserved segments (i.e., the urzymes) are precisely those that conform to bidirectional coding.

Their robust catalytic activity is necessary for the hypothesis to be true (5). (ii) Traces of bidirectional coding remain in contemporary aaRS genes. That signal increases as independent reconstructions of the two superfamilies approach the root node (12). (iii) 46-Residue peptides containing the ATP binding sites of Class I and II aaRS, expressed from a designed bidirectional gene have the expected catalytic activities (9).

Moreover, 46-residue peptides have substantial catalytic activity. Peptides from the designed, bidirectional gene achieved the same catalytic proficiency with kcat and KM values 100 times higher than those of the Wild-type WT sequences excerpted from the native structures of Class I TrpRS and Class II HisRS. All four peptides accelerate amino acid activation by ATP by the same amount. Thus, this experiment is a successful direct test of the sense/antisense coding hypothesis of Rodin and Ohno.

Domain motion drives amino-acid activation by tryptophanyl-tRNA synthetase. Aromatic side chain repacking in a master switch (the D1 switch) mediates the shear forces caused by domain motion. The repacking is rate-limiting. It also enforces multi-state behavior during catalysis. Repacking, in turn, communicates the domain orientation to the active site, activating the active-site Mg2+ ion (13).

Domain motion transiently configures the active site to complement the reactions transition state. Combinatorial mutant and modular thermodynamic cycles measure the internal coupling free energies that drive both catalysis (13-15) and specificity (16). Domain movements enhance both catalysis and specificity (16) to the same extent as coupling between individual D1 master switch side chains and the active site (13,14). Dependence of the overall conformational G on PPi release combines with this transient transition state complementarity to use ATP efficiently.

The resulting escapement mechanism is a special case of reciprocally-coupled gating, a more general phenomenon, that ensures vectorial transcendence of the second law of thermodynamics (17). It unifies the origins of catalysis, genetics, and bioenergetics (18).

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Exploring the dynamics of the scientific method in genetic coding - Open Access Government

Hereditary Genetic Testing Market Study on Investment Possibilities, Industry Share, and Trends through 2030 – EIN News

Market Size USD 21.35 Billion in 2021, Market Growth at a CAGR of 13.4%, Market Trends Rapid advancement of genetic research and sequencing technologies

The Global Hereditary Genetic Testing Market Research Report by Emergen Research was developed via analysis of key commercial data and a broad geographic distribution. The study provides comprehensive coverage of the qualitative and quantitative analyses of the Hereditary Genetic Testing market in addition to significant market statistical data. Both current estimates through 2022 and historical data from 2018 to 2019 are provided in the research paper. The study also examines established and emerging market players, providing a broad overview of the company, its product line, commercial alliances, and expansion ambitions.

Genetic tests can detect these differences and prove the existence of a disease. Given that most diseases are affected by changes in the patient's deoxyribonucleic acid (DNA), if not directly caused by them, there is a huge range of possible applications for genetic testing. The ability to translate genetic testing into medical applications is being greatly driven by advances in technology, human genome research, and rising consumer demand for direct-to-consumer genetic testing. By providing individuals with tailored information on their health, illness risk, and other traits without needing consent from a healthcare professional or health insurance provider, direct-to-consumer genetic testing helps people become more aware of inherited disorders. The development of clinical tests for the diagnosis of current disease and the prediction of future disease risk, together with automation, which is driving revenue growth in the hereditary genetic testing market, are also helping to advance genetically focused treatments and prevention measures. In the future, it is expected that researchers will be able to do genetic analysis for any genetically encoded aspect of a person in order to identify less medically significant qualities, detect existing illnesses, and accurately predict disease risk.

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Competitive Landscape:

The latest study provides an insightful analysis of the broad competitive landscape of the global Hereditary Genetic Testing market, emphasizing the key market rivals and their company profiles. A wide array of strategic initiatives, such as new business deals, mergers & acquisitions, collaborations, joint ventures, technological upgradation, and recent product launches, undertaken by these companies has been discussed in the report. The report analyzes various elements of the markets competitive scenario, such as the regulatory standards and policies implemented across the industry over recent years. Our team of experts has leveraged several powerful analytical tools, such as Porters Five Forces analysis and SWOT analysis, to deliver a comprehensive overview of the global Hereditary Genetic Testing market and pinpoint the fundamental growth trends.

The leading market contenders listed in the report are:

Mybrid Genetics, Inc., Invitae Corporation, Illumina, Inc.., F Hoffmann-La Roche Ltd, Quest Diagnostics Incorporated, Thermo Fisher Scientific, Inc., Ambry Genetics, NeoGenomics Laboratories, MedGenome, and Aetna Inc

Global Hereditary Genetic Testing Market Highlights:

Regional demand estimation and forecast

Product Mix Matrix

R&D Analysis

Cost-Benefit Analysis

Pre-commodity pricing volatility

Supply chain optimization analysis

Technological updates analysis

Raw Material Sourcing Strategy

Competitive Analysis

Mergers & Acquisitions

Location Quotients Analysis

Carbon Footprint Analysis

Patent Analysis

Vendor Management

Key Parameters Analyzed in This Section:

Company Profiles

Gross Revenue

Profit margins

Product sales trends

Product pricing

Industry Analysis

Sales & distribution channels

Regional Segmentation:

North America

Latin America

Europe

Middle East & Africa

Asia Pacific

Key Points Covered in This Section:

Regional contribution

Estimated revenue generation

Vital data and information about the consumption rate in all the leading regional segments

An expected rise in market share

Forecast growth in the overall consumption rate

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Some Key Highlights From the Report

The academic research centers segment accounted for largest revenue share in 2021. The objectives of research testing include discovering new genes, understanding how genes function, creating tests for potential therapeutic application, and improving our knowledge of genetic disorders. Patients and their medical professionals typically do not have access to the findings of testing conducted as part of a research study. For instance, the National Institutes of Health (NIH) contribute to the funding of various sizable centers managed by the Johns Hopkins Institute of Genetic Medicine. These resources have a long history at Johns Hopkins and serve as the basis for innovative research in addition to offering assistance and knowledge to scientists across the globe. Furthermore, more research centers are opening up in developing countries to offer genetic testing to patients with low economic background is driving revenue growth of the segment.

The presymptomatic and Predictive testing segment is expected to grow at a steady CAGR during the forecast period. Tests that are predictive and presymptomatic are used to find gene variants linked to disorders that manifest after birth, frequently later in life. These tests can be useful for those who do not yet exhibit any symptoms of the genetic disease but have a family relative who does. This kind of genetic testing is available for a number of heritable genetic disorders, such as hereditary cancer syndromes, inherited heart problems, and genetic neurodegenerative disorders. Presymptomatic Testing (PST) for a variety of genetic disorders has been made available by recombinant DNA technology that made testing samples through linkage analysis practicable. PST was made available to people with Lynch syndrome, familial adenomatous polyposis, and elevated risk of breast and ovarian cancer as knowledge of familial cancer syndromes grew. PST can now be administered by medical experts outside of specialized genetic institutes and is now available for a much larger spectrum of ailments owing to the information that is now known about individual disease-causing genes, which is driving revenue growth of this segment.

The market in North America accounted for significant revenue share in 2021. Rising prevalence of cancer and cardiac genetic diseases in the U.S. and Canada along with increased funding and genetic screening services offered by major companies, especially in the U.S. have resulted in revenue growth of the market in this region. For instance, on 23 February 2022, Fulgent Genetics, Inc., which is a company that uses technology to perform genetic tests and is dedicated to improving patient care in oncology, infectious and rare diseases, and reproductive health, announced a strategic investment in Spatial Genomics, Inc., which is a pioneer in the sequential fluorescence in situ hybridization (seqFISH) field, is driving revenue growth of the market in this region.

Market Overview:

The report bifurcates the Hereditary Genetic Testing market on the basis of different product types, applications, end-user industries, and key regions of the world where the market has already established its presence. The report accurately offers insights into the supply-demand ratio and production and consumption volume of each segment.

Segments Covered in this report are:

Type Outlook (Revenue, USD Billion; 2019-2030)

Diagnostic testing

Presymptomatic and Predictive testing

Carrier testing

Prenatal Testing & Newborn Screening

Others

Technology Type Outlook (Revenue, USD Billion; 2019-2030)

Biochemical testing

Cytogenetic testing

Molecular testing

Application Outlook (Revenue, USD Billion; 2019-2030)

Oncology Genetic Testing

Cardiology Genetic Testing

Neurology Genetic Testing

Others

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Key reasons to buy the Global Hereditary Genetic Testing Market report:

The latest report comprehensively studies the global Hereditary Genetic Testing market size and provides useful inference on numerous aspects of the market, such as the current business trends, market share, product offerings, and product share.

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It offers a detailed account of the end-use applications of the products services offered by this industry.

The report holistically covers the latest developments taking place in this industry. Therefore, it lists the most effective business strategies implemented by the market rivals for ideal business expansion.

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Hereditary Genetic Testing Market Study on Investment Possibilities, Industry Share, and Trends through 2030 - EIN News

Excessive digital technology use is associated with reduced sleep quality regardless of environmental and genetic factors, study finds -…

In a recent study published in the SLEEP Journal, researchers explored the association between poor sleep and the excessive use of digital technology among adolescents after adjusting for familial factors and examining the influence of environmental and genetic factors on the association.

Study:Problematic technology use and sleep quality in young adulthood: novel insights from a nationally representative twin study. Image Credit:TeroVesalainen/Shutterstock.com

Although many studies have reported that excessive use of digital technology among adolescents and young adults is linked to lower sleep quality, recent research indicates that in studies that used relevant control groups, the association was weaker or non-significant.

This implied that a third unexplored factor, such as environmental or genetic influences, could be the underlying reason for these observed associations.

Factors related to parental control and lack of boundaries resulting in inconsistent bedtimes and excessive use of technology could be impacting the quality of sleep.

Digital technology is thought to impact sleep quality in various ways. Hyperarousal and the requirement to constantly interact with digital devices such as mobile phones, computers, tablets, gaming consoles, and the blue light emitted by digital screens that disrupt melatonin levels could all contribute to reduced sleep quality.

However, while various studies have reported that excessive digital device use has been linked to reduced nighttime sleep duration and quality and disproportionate sleep during the day, the impact of familiar factors such as genetics or environmental influences on the link between poor sleep quality and the excessive use of digital technology remains largely unexplored.

In the present study, the researchers used data from a longitudinal study that tracked the development of cohorts of twins in England and Wales born between 1994 and 1995.

The data comprised assessments conducted during home visits for a total of 1,116 families who had same-sex twins aged five between 1999 and 2000. The sample set comprised families from various socioeconomic backgrounds, and 90% of the participants were White.

Follow-up assessments were conducted through home visits at ages seven, 10, 12, and 18 years. While the follow-up assessments at ages seven, 10, and 12 also included interviews with the mothers or primary caregivers, the assessment at 18 consisted of interviews only with the participants.

The examined measures comprised an assessment of the digital device use levels based on an adapted Compulsive Internet Use Scale to determine whether technology use was problematic or affecting various aspects of their daily life.

Factors such as withdrawal symptoms when unable to access the internet or check the mobile phone, using digital devices to cope with or escape grief or low moods, preoccupation with the online world, and neglect of duties at work, home, or school were investigated.

The Pittsburgh Sleep Quality Index (PSQI), consisting of an 18-item list, was used to assess sleep quality. Additionally, a four-item loneliness scale and a diagnostic manual for mental health were used to assess levels of loneliness, anxiety, and depression symptoms, respectively.

Furthermore, the level of insomnia experienced by the mothers when the participants were aged 12 was also examined.

The results reported that the excessive use of digital technology was associated with a lower quality of sleep among adolescents, even after controlling for symptoms of anxiety and depression, loneliness, disorderly behavior in the neighborhood, maternal insomnia, sex, and socioeconomic status.

Furthermore, the difference in technology use between twins was linked to corresponding differences in sleep quality, indicating that familial environmental factors did not significantly influence the association between excessive digital device use and lower sleep quality.

The researchers found that some of the environmental and genetic factors could be contributing to the excessive use of digital technology and poor quality of sleep, such as the use of technology within a peer group and genes affecting the two phenotypes.

Possible mechanisms through which the problematic use of digital technology impacts sleep quality were also discussed. Apart from poor sleep quality due to excessive blue light exposure interfering with the release of melatonin and the over-stimulation of the brain due to the use of digital devices closer to bedtime, the researchers also discussed the effect of late-night digital technology use on circadian rhythms.

Overall, the findings indicated that even after adjusting for familial factors such as the home environment or genetics and other factors such as loneliness, anxiety, and depression, the excessive and problematic use of digital devices was linked to reductions in sleep quality among adolescents.

Journal reference:

Madrid-Valero, J. et al. (2023) "Problematic technology use and sleep quality in young adulthood: novel insights from a nationally representative twin study",SLEEP. doi: 10.1093/sleep/zsad038. https://academic.oup.com/sleep/advance-article/doi/10.1093/sleep/zsad038/7143702?searchresult=1&login=false

Written by

Chinta Sidharthan is a writer based in Bangalore, India. Her academic background is in evolutionary biology and genetics, and she has extensive experience in scientific research, teaching, science writing, and herpetology. Chinta holds a Ph.D. in evolutionary biology from the Indian Institute of Science and is passionate about science education, writing, animals, wildlife, and conservation. For her doctoral research, she explored the origins and diversification of blindsnakes in India, as a part of which she did extensive fieldwork in the jungles of southern India. She has received the Canadian Governor Generals bronze medal and Bangalore University gold medal for academic excellence and published her research in high-impact journals.

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Excessive digital technology use is associated with reduced sleep quality regardless of environmental and genetic factors, study finds -...