Category Archives: Genetics

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

May 5, 2023 medical

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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

Genetics

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

May 5, 2023 medical

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

Genetics

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

May 5, 2023 medical

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

Genetics

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

May 5, 2023 medical

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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Genetics

MYRIAD GENETICS INC : Results of Operations and Financial Condition, Financial Statements and Exhibits (form 8-K) – Marketscreener.com

May 5, 2023 medical

ITEM 2.02 Results of Operations and Financial Condition.

On May 3, 2023, Myriad Genetics, Inc. (the "company") announced its financialresults for the three months ended March 31, 2023. The earnings release isattached hereto as Exhibit 99.1 to this Current Report on Form 8-K andincorporated herein by reference.

Exhibit 99.1 contains "forward-looking statements" within the meaning of thePrivate Securities Litigation Reform Act of 1995, including the company's fiscalyear 2023 financial guidance, the company's goal of profitability by the fourthquarter 2023 and sustainable 10%+ annual organic growth as the company enters2024, and statements relating to the planned launch of a new hereditary cancerassessment program by Myriad and SimonMed Imaging. These "forward-lookingstatements" are management's present expectations of future events as of thedate hereof and are subject to a number of known and unknown risks anduncertainties that could cause actual results, conditions, and events to differmaterially and adversely from those anticipated. These risks include, but arenot limited to: the risk that sales and profit margins of the company's existingtests may decline or that the company may not be able to operate its business ona profitable basis; risks related to the company's ability to achieve certainrevenue growth targets and generate sufficient revenue from its existing productportfolio or in launching and commercializing new tests to be profitable; risksrelated to changes in governmental or private insurers' coverage andreimbursement levels for the company's tests or the company's ability to obtainreimbursement for its new tests at comparable levels to its existing tests;risks related to increased competition and the development of new competingtests; continued uncertainties associated with COVID-19, including its possibleeffects on the company's operations and the demand for its products; the riskthat the company may be unable to develop or achieve commercial success foradditional tests in a timely manner, or at all; the risk that the company maynot successfully develop new markets or channels for its tests, including thecompany's ability to successfully generate substantial revenue outside theUnited States; the risk that licenses to the technology underlying the company'stests and any future tests are terminated or cannot be maintained onsatisfactory terms; risks related to delays or other problems with constructingand operating the company's laboratory testing facilities; risks related topublic concern over genetic testing in general or the company's tests inparticular; risks related to regulatory requirements or enforcement in theUnited States and foreign countries and changes in the structure of thehealthcare system or healthcare payment systems; risks related to the company'sability to obtain new corporate collaborations or licenses and acquire ordevelop new technologies or businesses on satisfactory terms, if at all; risksrelated to the company's ability to successfully integrate and derive benefitsfrom any technologies or businesses that it licenses, acquires or develops; therisk that the company is not able to secure additional financing to fund itsbusiness, if needed, in a timely manner or on favorable terms, if it all; risksrelated to the company's projections about the potential market opportunity forthe company's current and future products; the risk that the company or itslicensors may be unable to protect or that third parties will infringe theproprietary technologies underlying the company's tests; the risk ofpatent-infringement claims or challenges to the validity of the company'spatents; risks related to changes in intellectual property laws covering thecompany's tests, or patents or enforcement, in the United States and foreigncountries; risks related to security breaches, loss of data and otherdisruptions, including from cyberattacks; risks of new, changing and competitivetechnologies in the United States and internationally and that the company maynot be able to keep pace with the rapid technology changes in its industry, orproperly leverage new technologies to achieve or sustain competitive advantagesin its products; the risk that the company may be unable to comply withfinancial operating covenants under the company's credit or lending agreements;risks related to the company's inability to achieve and maintain effectivedisclosure controls and procedures and internal control over financialreporting; risks related to current and future investigations, claims orlawsuits, including derivative claims, product or professional liability claims,and risks related to the amount of the company's insurance coverage limits andscope of insurance coverage with respect thereto; and other factors discussedunder the heading "Risk Factors" contained in Item 1A of the company's AnnualReport on Form 10-K filed with the U.S. Securities and Exchange Commission onMarch 1, 2023, as well as any updates to those risk factors filed from time totime in the company's Quarterly Reports on Form 10-Q or Current Reports on Form8-K. Myriad is not under any obligation, and it expressly disclaims anyobligation, to update or alter any forward-looking statements, whether as aresult of new information, future events or otherwise except as required by law.

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The exhibit(s) may contain hypertext links to information on our website orother parties' websites. The information on our website and other parties'websites is not incorporated by reference into this Current Report on Form 8-Kand does not constitute a part of this Form 8-K.

In accordance with General Instruction B-2 of Form 8-K, the information setforth in Item 2.02 and in Exhibit 99.1 shall not be deemed to be "filed" forpurposes of Section 18 of the Securities Exchange Act of 1934, as amended (the"Exchange Act"), or otherwise subject to the liability of that section, andshall not be incorporated by reference into any registration statement or otherdocument filed under the Securities Act of 1933, as amended or the Exchange Act,except as shall be expressly set forth by specific reference in such filing.

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Genetics

New Method Finds Correlations Between Mental Health and Blood … – Mirage News

May 5, 2023 medical

Using blood samples to study diseases that originate in the brain is a difficulty faced by psychiatric genetics in the search for markers of mental health disorders. Researchers at the Federal University of So Paulo (UNIFESP) in Brazil have shown that this hindrance can be surmounted by analyzing microRNAs in extracellular vesicles (EVs), which are produced by most cells in the body, including neurons and other nervous system cells.

The study was supported by FAPESP and is reported in an article published in the journal Translational Psychiatry.

Exosomes, the smallest type of EV, can cross the blood-brain barrier that protects the brain from pathogens and toxins. MicroRNAs (miRNAs) are small transcripts that target messenger RNAs and regulate the expression of several genes at once. They can be detected in biofluids and EVs and have been associated with mental disorders, including depression, anxiety, and attention deficit/hyperactivity disorder (ADHD), paving the way for early diagnosis and treatment in future.

More work has to be done to validate these miRNAs, but our findings suggest genetic material from EVs can be identified non-invasively, said Jessica Honorato Mauer, first author of the article.

We cant be absolutely sure the exosomes analyzed came from the brain, but we know they regulate gene expression in several types of tissue and may be involved in mechanisms that increase the risk of mental health disorders.

The study sample consisted of 116 participants in a study of psychiatric disorders in childhood (sometimes referred to by the acronym BHRCS, for Brazilian High-Risk Cohort Study). Two sets of blood samples were collected at time points three years apart (in adolescence and early adulthood). EVs were extracted from the blood serum and characterized. The researchers then sequenced miRNAs extracted from the EVs to analyze variations over time in search of associations with specific psychiatric disorders.

As part of this longitudinal analysis, they divided the participants into four groups according to disorder diagnosis and trajectory: a control group comprising those without a diagnosis at either time point; an incidence group comprising those who had no diagnosis at the first time point and then transited to a diagnosis; a remission group with a diagnosis only initially; and a persistence group with a diagnosis at both points.

Analysis of miRNAs from the four groups did not bring to light any statistically significant differences. Nevertheless, the results of the statistical tests can be used in future meta-analysis investigations.

A second analysis looked for associations between miRNAs and specific disorders at the same time point, comparing individuals diagnosed with depression, anxiety or ADHD versus those without any diagnosis. Expression of miR-328 was upregulated in children with ADHD compared with those without the disorder. For the second time point, miRNAs were found to be associated with depression and anxiety. Three of these (miR-432-5p, miR-151a-5p and miR-584-5p) were downregulated in subjects with anxiety, and five (miR-4433b-5p, miR-584-5p, miR-625-3p, miR-432-5p and miR-409-3p) in those with depression.

We know there are no biomarkers for psychiatric disorders of the kind there are for certain diseases, such as cancer. I believe it will be possible in future to produce integrated predictions based on DNA, exosome miRNAs and interaction with the environment. In this case, for example, well be able to assess a persons genetic risk the risk they were born with and also evaluate the person over time by verifying changes in miRNAs or environmental exposures, so that treatment or interventions of other kinds can prevent the disease from becoming established in people who begin to present with changes in expression of this or that miRNA, said Marcos Leite Santoro, a professor of molecular biology at UNIFESP and last author of the article.

Next steps

The researchers plan to see if the results obtained hitherto can be confirmed for other cohort life stages, extending the study by using both existing data (available for more than 700 participants since 2010) and newly collected data on the same participants, who are now adults, and their children.

Besides miRNA expression, they also mean to analyze other types of data to glean a more integrated understanding of psychiatric disorders, including genomics, transcriptomics and DNA methylation, as well as environmental factors such as socio-economic conditions, exposure to drug abuse, ill-treatment in childhood, bullying at school and the COVID-19 pandemic.

About So Paulo Research Foundation (FAPESP)

The So Paulo Research Foundation (FAPESP) is a public institution with the mission of supporting scientific research in all fields of knowledge by awarding scholarships, fellowships and grants to investigators linked with higher education and research institutions in the State of So Paulo, Brazil. FAPESP is aware that the very best research can only be done by working with the best researchers internationally. Therefore, it has established partnerships with funding agencies, higher education, private companies, and research organizations in other countries known for the quality of their research and has been encouraging scientists funded by its grants to further develop their international collaboration. You can learn more about FAPESP at http://www.fapesp.br/en and visit FAPESP news agency at http://www.agencia.fapesp.br/en to keep updated with the latest scientific breakthroughs FAPESP helps achieve through its many programs, awards and research centers. You may also subscribe to FAPESP news agency at https://agencia.fapesp.br/subscribe.

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New Method Finds Correlations Between Mental Health and Blood ... - Mirage News

Genetics

Study Identifies Genetic Mutations That Contribute to Adult Epilepsy – Mass General Brigham

May 5, 2023 medical

Findings point to the potential for using existing cancer therapies to treat drug-resistant epilepsy

Epilepsy affects approximately 1 in 26 people and the most common form, known as temporal lobe epilepsy (TLE), often cannot be adequately treated with anti-seizure medications. Patients with this form of epilepsy may require neurosurgery to provide relief from seizures. The conditions origins and progression are not well understood, and it has been unclear if genetic mutations may contribute to TLE. A new study by investigators from Mass General Brigham, in collaboration with colleagues at Boston Childrens Hospital, sheds new light on the role of somatic mutations in TLE DNA alterations that occur after conception and suggests the potential of using existing cancer therapies to treat TLE that is resistant to anti-seizure medications. Their results are published in JAMA Neurology.

Somatic mutations are likely an underappreciated and significant cause of neurologic diseases, particularly for epilepsy, said co-first authorSattar Khoshkhoo, MD,of the Department of Neurology at Brigham and Womens Hospital, a founding member of the Mass General Brigham healthcare system. And as an epileptologist who specifically focuses on epilepsy genetics in my clinical practice, my underlying assumption is that all epilepsy is due to genetic causes until proven otherwise. We are discovering more and more new genetic pathways in epilepsy, which is important because our goal is to offer more specific, targeted treatments for individual patients and offer guidance on who would benefit from one treatment versus the other.

Our results provide the first solid insight into this most common form of adult epilepsy, said co-senior authorChristopher Walsh, MD, PhD, of Boston Childrens Hospital. It shows that epilepsies that are not usually inherited can still be genetic in their mechanism. And the specific genetic pathway we have identified, RAS/MAPK, opens a whole new avenue of therapeutic possibilities, since anti-cancer drugs that target this pathway may have unexpected uses in epilepsy.

To uncover somatic mutations, Khoshkhoo and colleagues performed a case-control genetic association study, analyzing DNA from brain tissue samples collected from 105 patients with epilepsy and 30 controls between 1988 and 2019. The team sequenced portions of the genome coding for proteins (whole exome sequencing) and looked at specific locations in the genome (gene-panel sequencing), with each genomic region sequenced more than 500 times on average.

The team pinpointed 11 somatic mutations that were enriched in hippocampus, the region of the brain where seizures typically originate, from 11 patients with treatment-resistant TLE. All but one of the 11 mutations were connected to a specific genetic pathway known as the RAS/MAPK pathway. This finding is particularly important because several anti-cancer drugs have been developed to target the RAS/MAPK pathway. If the studys results are confirmed and validated, such drugs could be tested for the treatment of TLE. In addition to suggesting a potential path to treatment, the findings could also be used to help inform treatment decisions for patients who do or do not harbor these somatic mutations.

This work is exciting because it identifies potential drug targets that can be modulated with repurposed, FDA-approved anti-cancer agents. This suggests the potential for a rational, precision medicine treatment for a problem that we currently treat by removing a significant part of the temporal lobe with neurosurgery, saidKristopher Kahle, MD, PhD,the Nicholas T. Zervas Endowed Chair at Harvard Medical School and the chief of Pediatric Neurosurgery at Massachusetts General Hospital, a founding member of Mass General Brigham. Kahle also holds research appointments in genetics/genomics and neurosurgery at Boston Childrens Hospital.

The authors note that their study includes samples only from patients whose disease was severe enough to require surgery and may not be generalizable to patients with less severe disease. In addition, samples from these patients may have more scarring and cell death from seizures. This could mean that the somatic mutations they detected may be much more prevalent than the rates found in this study.

The investigators plan to test a larger number of hippocampus samples and use cell models to test pre-existing drugs.

Our findings point to the potential for developing the first disease modifying treatment in TLE, said Khoshkhoo. Being able to provide a genetic diagnosis has implications for clinical decision making and could signal a new day for treatment.

Disclosures:Walsh has received grants from Howard Hughes Medical Institute, National Institutes of Neurological Disease and Stroke, Allen Frontiers Group/Allen Foundation, Simons Foundation, and Templeton Foundation during the conduct of the study. Additional disclosures can be found in theJAMA Neurologypaper.

Funding:National Institutes of Health (R25-NS065743, K08-NS128272, T32-GM007753, R25-NS079198, R01-NS035129 and R01-NS094596, R01-NS094596, DP2-AG072437, R01-AG070921, R01-NS035129, R01-NS109358, R01-NS111029, R01-NS117609), Doris Duke Physician Scientist Fellowship, the Manton Center for Orphan Disease Research at Boston Childrens Hospital, a European Commissions Horizon 2020 Research and Innovation Programme Marie Sklodowska-Curie Actions Individual Fellowship (grant agreement 101026484), Australia National Health and Medical Research Council Investigator (Grant 1172897), Australia National Health and Medical Research Council Investigator (Grant 1196637), Australia National Health and Medical Research Council Ideas (Grant 2012287), Australia National Health and Medical Research Council Project (Grants 1129054 and 1079058), the Suh Kyungbae Foundation, the Allen Discovery Center program, the Allen Frontiers Program, Yale-Rockefeller Centers for Mendelian Genomics, the Simons Foundation, March of Dimes, Hydrocephalus Association, and Rudi Schulte Research Institute.

Paper cited:Khoshkhoo Set al.Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe EpilepsyJAMA NeurologyDOI: 10.1001/jamaneurol.2023.0473

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Study Identifies Genetic Mutations That Contribute to Adult Epilepsy - Mass General Brigham

Genetics

Genetic editing tech CRISPR comes to UH, gets $149K boost … – University of Hawaii

May 5, 2023 medical

Students learning how to perform digital PCR to analyze copy numbers of transformants

University of Hawaii at Mnoa Assistant Professor Zhi-Yan Rock Du from the Department of Molecular Biosciences and Bioengineering (MBBE) has received a $149,000 grant from the USDAs National Institute of Food and Agriculture to jumpstart a project that will introduce the UH System to CRISPR, the basis of genetic editing technology.

Motivated to educate Hawaiis current and future workforce in this cutting-edge technologyand to better represent Native Hawaiians and other Pacific Islanders in science and technology disciplinesDu has initiated the first official CRISPR laboratory course at UH Mnoa, in addition to CRISPR workshops for baccalaureate and two-year postsecondary students within the UH System.

This education project will address the educational disparities and needs of curriculum development, instructional delivery systems and expand student career opportunities, said Du. The long-term goal of this project is to develop agricultural and science literacy in Hawaii by building competencies in molecular biology, genetics, biotechnology, agricultural science and science communication.

Du and his graduate students and teaching assistants conducted an MBBE/BIOL 401Lab Molecular Biotechnology Lab-Gene Editing by CRISPR/Cas9 in spring 2023 and have also planned workshops in summer and fall, with the first workshop to launch in July 2023. Students will also utilize materials such as tropical maize from a current research project for this new education opportunity.

In the past decade, CRISPR genetic engineering tools have become an essential technology in numerous industries, including food and agriculture, drug development and therapy, as well as ongoing scientific research; however, Du said that CRISPR systems are not well understood in the general community, leading to fears and misunderstandings about genetic engineering and an overall anti-science outlook.

Hawaii is heavily dependent on food imports, said Du. Its urgent to simulate local agriculture and workforce development. The grant will promote the education of college students on novel non-transgenic genome editing technologies, such as CRISPR/Cas RNP (ribonucleoprotein) with gene gun/particle bombardment methods. Students will learn and practice the new genome-editing technologies. We hope to engage more students from UH Mnoa and other campuses, including community colleges, in food and agricultural careers for our future food security and quality.

Myriad Genetics to Participate in BofA Securities Healthcare Conference – Myriad Genetics (NASDAQ:MYGN) – Benzinga

May 5, 2023 medical

May 2, 2023 4:05 PM | 1 min read

SALT LAKE CITY, May 02, 2023 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ:MYGN), a leader in genetic testing and precision medicine, today announced it will be participating in the upcoming BofA Securities Healthcare Conference in Las Vegas, NV.

Myriad management will participate in a fireside chat on Tuesday, May 9 at 3:00 p.m. PT. A live and archived webcast of the presentation can be viewed in the investor relations section of Myriad's website at http://www.myriad.com.

Enter your email and you'll also get Benzinga's ultimate morning update AND a free $30 gift card and more!

About Myriad GeneticsMyriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and well-being for all. Myriad develops and offers genetic tests that help assess the risk of developing disease or disease progression and guide treatment decisions across medical specialties where genetic insights can significantly improve patient care and lower healthcare costs. For more information, visit http://www.myriad.com.

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Myriad Genetics to Participate in BofA Securities Healthcare Conference - Myriad Genetics (NASDAQ:MYGN) - Benzinga

Genetics

Illumina’s Surge in Stocks Signals Growing Investor Interest in … – Best Stocks

May 5, 2023 medical

In recent news, Handelsbanken Fonder AB has increased their holdings in Illumina, Inc. by 10.1% during the fourth quarter of this year. The life sciences company has made significant strides to remain competitive in the market thanks to its strong commitment to research and development in genetics. This recent surge in stocks goes to show that investors have a growing interest in this field as they continue to recognize Illuminas potential for growth.

Illuminas financial report for Q3 demonstrates their positive progress. They have reported earnings per share (EPS) of $0.08 for this quarter, exceeding analysts expectations by $0.06. Although the company had incurred a negative net margin of 100.92%, it still managed to achieve a positive return on equity of 2.26%. Moreover, the business garnered revenue amounting to $1.09 billion, surpassing predicted sales figures by hitting $1.07 billion with an 11% decrease compared to the previous year.

Illumina invests extensively not only in developing advanced technology for genetic research but also integrating these systems into life science tools beneficial across several fields such as clinical and applied markets, therefore enabling adoption to multifarious genomic solutions through its Core Illumina segment.

As genetics is proving to be an increasingly crucial component of healthcare and medical research today, companies like Illumina are poised for colossal growth in the future stemming from advancements in genetic therapies or cures that may arise later on due to innovations occurring within recently unearthed non-coding regions throughout the DNA landscape.

With intensive R&D efforts ongoing underpinning various aspects of genomic study while continuing to develop, manufacture, and market tools integrated with life science systems geared towards large-scale analysis of genetic variation and function Illumina remains at the forefront of industry leaders driving change through innovation regarding gene therapy treatments designed for an entirely new era hoping ultimately to inspire curative effects across multiple disease states.

Illumina, Inc. is a reputable life science company that develops, manufactures, and markets genetic variation and functional analysis tools for large-scale use. Recently, several institutional investors have added to or reduced their stakes in Illumina, including Acadian Asset Management LLC, which raised its holdings by 312.5% during the first quarter. Other investors such as Dimensional Fund Advisors LP, Dakota Wealth Management, Sequoia Financial Advisors LLC, and Baird Financial Group Inc also increased their positions last quarter.

The firm operates through the Core Illumina segment that enables adoption of genomic solutions serving customers in various fields like research, clinical and applied markets. Shares of NASDAQ:ILMN opened at $202.31 on Tuesday with a market cap of $31.98 billion. The stocks 50-day moving average price is $218.04 with a two-hundred day moving average price at $213.87. The 12-month high is $309.12 while the low stands at $173.45.

An SVP Alexander Aravanis sold 5,398 shares of Illumina stock while Aimee L Hoyt sold 3,917 shares recently in separate transactions totaling up to 9,815 shares of company stock worth $1,974,496 in the past ninety days.Several equities analysts issued reports on ILMN shares in recent times with Argus cutting down its rating from buy to hold in January due to valuation reasoning while Barclays reduced their price target on shares from $160 to $150 and rated it as underweight.

Overall investor outlook on Illumina seems mixed as two equities research analysts rate the stock as sell while seven assign a hold rating and eight issue buy ratings according to Bloomberg.com making it average towards holding.Despite this fluctuating investment performance pattern over time associated with genome sequencing firms due to diverse reasons including liability issues faced by personal genomics companies that provided DNA tests, the constantly evolving industry holds promise in application within healthcare settings, personalized nutrition, and genetics making Illumina a promising holding for what appears will be an uncharted market of genetic solutions.

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