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OpGen Subsidiary Ares Genetics GmbH Enters into Collaboration Agreement with the Belgian National Reference Centre for Invasive S. pneumoniae at UZ…

ROCKVILLE, Md., July 26, 2022 (GLOBE NEWSWIRE) -- OpGen, Inc.(Nasdaq: OPGN, OpGen) announced today that its subsidiary Ares Genetics GmbH(Ares Genetics), which strives to become a leader in bacterial genomics and the Artificial Intelligence (AI)-powered prediction of antimicrobial resistance (AMR), and the Belgian National Reference Centre for invasive S. pneumoniae at the Universitair Ziekenhuis Leuven (UZ Leuven) have entered into a collaboration agreement to jointly evaluate computational tools developed by Ares Genetics for the identification and characterization of Streptococcus pneumoniae for diagnostic purposes.

AMR is a serious threat to public health. Over five years, the estimated number of annual deaths that might have been prevented by effective antimicrobial therapy has grown by 81% to approximately 1.27 million deaths.1,2 Among other AMR pathogens, the U.S. Center of Disease Control has classified drug-resistant Streptococcus pneumoniae as a serious antibiotic resistant threat on its website.3

Ares Genetics and UZ Leuven aim to employ machine learning tools for antibiotic susceptibility testing of Streptococcus pneumoniae directly from whole genome sequencing data. The AI-based wgsAST technology developed by Ares Genetics4 relies on predictive models which are trained on ARESdb, a proprietary AMR knowledgebase and collection of pathogen genome data and associated data on phenotypic antibiotic susceptibility and resistance.

We are excited to jointly demonstrate and advance the utility of antibiotic susceptibility prediction directly from genome data. AMR in respiratory pathogens, including in Pneumococci, is a serious healthcare threat, said Dr. Arne Materna, CEO of Ares Genetics. We welcome the collaboration with the experts at UZ Leuven tasked with the national surveillance of Streptococcus pneumoniae. Partnerships with national reference and public health laboratories allow us to aggregate current data on AMR in key pathogens, to further enrich our ARESdb, and in turn to deploy an up-to-date AI for wgsAST where it matters.

The collaboration with UZ Leuven follows after another collaboration agreement between Ares Genetics and an unnamed international commercial reference laboratory had been announced in 2021.

Ares Genetics plans to expand ARESdb with data collected at the national reference center, to develop and deploy wgsAST models for Streptococcus pneumoniae, and to jointly evaluate their performance compared to conventional methods. In return for access to genome and AMR phenotype data, Ares Genetics will deploy AREScloud at the National Reference Centre for invasive S. pneumoniae at UZ Leuven. AREScloud is a commercially available, user-friendly bioinformatics web application for pathogen detection, typing, AMR characterization and outbreak analysis. Unlike other commercial solutions, AREScloud draws on ARESdb to provide rich information on AMR and to offer unique wgsAST capabilities to its users.

About OpGen, Inc.

OpGen, Inc. (Rockville, MD, USA) is a precision medicine company harnessing the power of molecular diagnostics and bioinformatics to help combat infectious disease. Along with our subsidiaries, Curetis GmbH and Ares Genetics GmbH, we are developing and commercializing molecular microbiology solutions helping to guide clinicians with more rapid and actionable information about life threatening infections to improve patient outcomes, and decrease the spread of infections caused by multidrug-resistant microorganisms, or MDROs. OpGens product portfolio includes Unyvero, Acuitas AMR Gene Panel and the ARES Technology Platform including ARESdb, using NGS technology and AI-powered bioinformatics solutions for antibiotic response prediction.

For more information, please visit http://www.opgen.com.

Forward-Looking Statements

This press release includes statements regarding OpGens subsidiary Ares Genetics GmbHs collaboration agreement with the Belgian National Reference Center at UZ Leuven. These statements and other statements regarding OpGens future plans and goals constitute "forward-looking statements" within the meaning of Section 27A of the Securities Act of 1933 and Section 21E of the Securities Exchange Act of 1934 and are intended to qualify for the safe harbor from liability established by the Private Securities Litigation Reform Act of 1995. Such statements are subject to risks and uncertainties that are often difficult to predict, are beyond our control, and which may cause results to differ materially from expectations. Factors that could cause our results to differ materially from those described include, but are not limited to, the success of our commercialization efforts, our ability to successfully, timely and cost-effectively develop, seek and obtain regulatory clearance for and commercialize our product and services offerings, the rate of adoption of our products and services by hospitals and other healthcare providers, the fact that we may not effectively use proceeds from recent financings, the continued realization of expected benefits of our business combination transaction with Curetis GmbH, the continued impact of COVID-19 on the Companys operations, financial results, and commercialization efforts as well as on capital markets and general economic conditions, our ability to satisfy debt obligations under our loan with the European Investment Bank, the effect of the military action in Russia and Ukraine on our distributors, collaborators and service providers, our liquidity and working capital requirements, the effect on our business of existing and new regulatory requirements, and other economic and competitive factors. For a discussion of the most significant risks and uncertainties associated with OpGen's business, please review our filings with the Securities and Exchange Commission. You are cautioned not to place undue reliance on these forward-looking statements, which are based on our expectations as of the date of this press release and speak only as of the date of this press release. We undertake no obligation to publicly update or revise any forward-looking statement, whether as a result of new information, future events or otherwise.

OpGen:Oliver SchachtPresident and CEOInvestorRelations@opgen.com

OpGen Press Contact:Matthew BretziusFischTank Marketing and PR matt@fischtankpr.com

OpGen Investor Contact:Alyssa FactorEdison Groupafactor@edisongroup.com

1 https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(21)02724-0/fulltext2 https://amr-review.org/sites/default/files/AMR%20Review%20Paper%20-%20Tackling%20a%20crisis%20for%20the%20health%20and%20wealth%20of%20nations_1.pdf3 https://www.cdc.gov/drugresistance/biggest-threats.html#pne4 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315026/

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OpGen Subsidiary Ares Genetics GmbH Enters into Collaboration Agreement with the Belgian National Reference Centre for Invasive S. pneumoniae at UZ...

Genetic Testing for Women: What You Need to Know | Health Hive – Health Hive

Over the last quarter century, the advancement of DNA technology allowed physicians and scientists to make considerable advances with medical testing.

Using this new knowledge as a method of screening allows providers to get a better sense of who might have an increased risk of developing certain health conditions. This testing does not determine if a patient has developed or will develop a particular condition, but can determine who might be at substantially increased risk and influence medical management.

Kim Provenzano, NP, is an Advanced Practice Nurse in Genetics at Lipson Cancer Institute with Rochester Regional Health and has 25 years of experience with genetic testing for breast and gynecologic cancers, as well as cardiac conditions.

At Lipson Cancer Institute, genetic testing is offered for a variety of inherited syndromes. This includes but is not limited to:

Identifying at-risk women through the use of genetic testing allows us to create individualized medical interventions that can lead to early detection, prevention, and better quality of life for both our patients and their families, Provenzano said.

Most patients arriving at Lipson Cancer Institute are referred by their providers, whether primary care, cardiology, oncology, radiation, urology, or OBGYN.

Once a patient arrives at their appointment, they will begin genetic counseling with a provider. Genetic counseling focuses on a patients family history of disease and includes a risk assessment. The assessment will include:

Once all of this information is documented, providers will perform a risk calculation to determine if genetic testing would be helpful to the patient.

Based on the results of the assessment and initial appointment, providers will go through the process of informed consent a conversation in which the patient is counseled regarding the benefits, limitations and potential alternatives of genetic testing and is given the opportunity to make an informed decision as well as ask questions.

Genetic testing is conducted by collecting a blood or saliva sample from a patient, depending on the type of test being performed. The sample is then sent to an outside laboratory to be tested. The time between sample collection and results varies based on the type of test being performed.

Providers with Lipson Cancer Institute utilize multi-gene panel testing, which can encompass as many 90 genes in a single test. This technique allows providers to assess a patients risk for many different types of cancer all at once.

If genetic testing identifies a patient as being at increased risk for a particular type of condition, providers are able to connect them to the specialists who are best equipped to help. This may include:

We find patients who have genetic testing done are less anxious, and feel more reassured and empowered to make better health care decisions, Provenzano said. The knowledge they receive allows them to inform other family members about potential risk and seek appropriate medical management. Its a positive thing in most cases.

The Lipson Cancer Institute provides a myriad of professional and medical services that help patients and their families address the implications of increased risk for certain health conditions. Cancer risk assessment and genetic testing services are offered at all of Lipson Cancer Institutes locations. Visit the link below or call (585) 922-6DNA (362).

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Genetic Testing for Women: What You Need to Know | Health Hive - Health Hive

SOPHiA GENETICS to Participate in Canaccord Genuity 42nd Annual Growth Conference – StreetInsider.com

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BOSTON and LAUSANNE, Switzerland, July 29, 2022 (GLOBE NEWSWIRE) -- SOPHiA GENETICS SA (Nasdaq: SOPH), a leader in data-driven medicine, announced today Chief Financial Officer, Ross Muken, will attend and be a panelist at the Canaccord Genuity 42nd Annual Growth Conference on Thursday, August 11, 2022 at the InterContinental Hotel in Boston, MA, United States.

Ross will join other industry leaders for the panel Leveraging Omics-Based Data and Analytics to Advance Precision Health to the Next Level, starting at 9:30 a.m. EST.

A live webcast and replay of the session will be available on the investor relations section of the SOPHiA GENETICS website at https://ir.sophiagenetics.com.

About SOPHiA GENETICSSOPHiA GENETICS (Nasdaq: SOPH) is a healthcare technology company dedicated to establishing the practice of data-driven medicine as the standard of care and for life sciences research. It is the creator of the SOPHiA DDM Platform, a cloud-native platform capable of analyzing data and generating insights from complex multimodal data sets and different diagnostic modalities. The SOPHiA DDM Platform and related solutions, products and services are currently used by more than 790 hospital, laboratory, and biopharma institutions globally. For more information, visit SOPHiAGENETICS.COM, or connect on Twitter, LinkedIn and Instagram. Where others see data, we see answers.

Investor Contact:Jennifer PottageHead of Investor Relations[emailprotected]

Media Contact:Don GranesePublic Relations[emailprotected]

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SOPHiA GENETICS to Participate in Canaccord Genuity 42nd Annual Growth Conference - StreetInsider.com

Alnylam Uncovers Genetic Mutations in INHBE That Protect Against Abdominal Obesity – Business Wire

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, announced today that the Company and collaborators have identified mutations in the INHBE gene associated with protection against abdominal obesity and metabolic syndrome a condition impacting more than 20 percent of adults worldwide. The discovery leveraged sequencing data from more than 360,000 individuals in UK Biobank, and was published in the 13th issue of Nature Communications. The published data show that rare mutations in the liver-expressed INHBE gene are associated with lower waist-to-hip ratio adjusted for body mass index (WHRadjBMI), a surrogate for abdominal fat that is causally linked to type 2 diabetes and coronary heart disease. Findings support the potential of INHBE to be evaluated as a novel therapeutic target for the treatment of cardiometabolic disease. The Company plans to pursue a development candidate for INHBE and its gene product, Activin E, leveraging its liver IKARIA platform.

We are thrilled that our investment in genetic databases like UK Biobank is proving to be fruitful in identifying novel targets in highly prevalent diseases with continued unmet need, said Paul Nioi, Ph.D., Vice President, Discovery and Translational Research, and the Leader of Alnylams Human Genetics Group. There is a well-established causal link between increased waist-to-hip ratio and a persons risk of cardiometabolic conditions. By exploring the genetic determinants of waist-to-hip ratio in this study, important insights into the mechanisms that contribute to body fat distribution were uncovered helping identify potential therapeutic targets for abdominal obesity, like INHBE. The results of this exome-wide analysis suggest that targeting INHBE is predicted to have broad beneficial effects on all facets of metabolic syndrome with potential reductions in the risk of type 2 diabetes and coronary heart disease. We are currently testing this hypothesis, with the goal of pursuing a development candidate targeting INHBE in the near future.

We are delighted to see that the uniquely detailed data within UK Biobank - generously donated by our half a million participants - is accelerating research into important health conditions. Thanks to the collaboration with leading life sciences companies in the UK Biobank Exome Sequencing Consortium, the UK Biobank resource is helping to rapidly identify new therapeutic targets for abdominal obesity, said Professor Naomi Allen, UK Biobank Chief Scientist.

Using whole exome-sequencing data from UK Biobank, Alnylam and collaborators mined for gene variants associated with lower WHRadjBMI in more than 360,000 individuals of European ancestry, revealing loss of function in INHBE as a novel genetic factor contributing to a healthier fat distribution. Rare predicted loss of function (pLOF) variants in INHBE, were carried by one in 587 individuals and were associated with lower abdominal fat. In vitro characterization of the most common INHBE pLOF variant in the study, indicated an approximately 90% reduction in secreted activin E levels. Further analysis of INHBE pLOF carriers revealed a favorable metabolic profile, including decreased triglycerides, increased high-density lipoprotein cholesterol, and decreased fasting glucose. There were no associations suggesting adverse effects of INHBE pLOF, and carriers of these variants did not show evidence of excess mortality. The study also detected associations with lower WHRadjBMI for variants in ACVR1C, encoding an activin receptor, further highlighting the involvement of activins in regulating fat distribution.

About UK Biobank

UK Biobank is a large-scale biomedical database and research resource, containing in-depth genetic and health information from half a million UK participants. The database, which is regularly augmented with additional data, is globally accessible to approved researchers and scientists undertaking vital research into the most common and life-threatening diseases. UK Biobanks research resource is a major contributor to the advancement of modern medicine and treatment and has enabled several scientific discoveries that improve human health.

The UK Biobank Exome Sequencing Consortium (UKB-ESC)

In 2018, Alnylam and partners Regeneron, AbbVie, AstraZeneca, Biogen, and Pfizer announced an agreement with UK Biobank to form the UK Biobank Exome Sequencing Consortium (UKB-ESC), a pre-competitive consortium that aims to sequence the whole exomes of 500,000 volunteer participants in the biomedical resource. The goal of the consortium, which represents the largest ever effort to use genome sequencing to map the DNA of a group of people, is to uncover insights that allow researchers to pinpoint new drug targets at the core of human disease in order to develop effective treatments for patients. To date, the UKB-ESC has made whole-exome sequencing data from 450,000 participants available to the global health community for research purposes and will continue to make all sequenced data available at no cost under the terms of the UKB-ESC charter and the founding principles of UK Biobank.

About Cardiometabolic Disease

Cardiometabolic diseases are the number one cause of death in the world; these include but are not limited to cardiovascular disease, obesity, diabetes mellitus, and non-alcoholic fatty liver disease. An estimated 47 million people in the U.S. alone are living with some form of cardiometabolic disease. Despite the availability of many well-established treatments for cardiometabolic diseases, the substantial mortality associated with this group of diseases underscores the high unmet medical need for new therapeutic options, including those directed to novel disease-modifying targets, and with potential to address poor medication adherence.

About IKARIA Platform

Alnylams IKARIA platform takes advantage of more than two decades of experience in developing RNAi therapeutics. IKARIA enables an extended duration of activity in preclinical studies, with potential for annual dosing in humans, and has design features which provide exquisite specificity, further widening the potential therapeutic index, with enhanced target reduction levels.

About RNAi

RNAi (RNA interference) is a natural cellular process of gene silencing that represents one of the most promising and rapidly advancing frontiers in biology and drug development today. Its discovery has been heralded as "a major scientific breakthrough that happens once every decade or so," and was recognized with the award of the 2006 Nobel Prize for Physiology or Medicine. By harnessing the natural biological process of RNAi occurring in our cells, a new class of medicines, known as RNAi therapeutics, is now a reality. Small interfering RNA (siRNA), the molecules that mediate RNAi and comprise Alnylam's RNAi therapeutic platform, function upstream of todays medicines by potently silencing messenger RNA (mRNA) the genetic precursors that encode for disease-causing or disease pathway proteins, thus preventing them from being made. This is a revolutionary approach with the potential to transform the care of patients with genetic and other diseases.

About Alnylam Pharmaceuticals

Alnylam (Nasdaq: ALNY) has led the translation of RNA interference (RNAi) into a whole new class of innovative medicines with the potential to transform the lives of people afflicted with rare and prevalent diseases with unmet need. Based on Nobel Prize-winning science, RNAi therapeutics represent a powerful, clinically validated approach yielding transformative medicines. Since its founding 20 years ago, Alnylam has led the RNAi Revolution and continues to deliver on a bold vision to turn scientific possibility into reality. Alnylams commercial RNAi therapeutic products are ONPATTRO (patisiran), GIVLAARI (givosiran), OXLUMO (lumasiran), AMVUTTRA (vutrisiran), and Leqvio (inclisiran) being developed and commercialized by Alnylams partner, Novartis. Alnylam has a deep pipeline of investigational medicines, including six product candidates that are in late-stage development. Alnylam is executing on its Alnylam P5x25 strategy to deliver transformative medicines in both rare and common diseases benefiting patients around the world through sustainable innovation and exceptional financial performance, resulting in a leading biotech profile. Alnylam is headquartered in Cambridge, MA. For more information about our people, science and pipeline, please visit http://www.alnylam.com and engage with us on Twitter at @Alnylam, on LinkedIn, or on Instagram.

Alnylam Forward Looking Statements

Various statements in this release concerning Alnylam's future expectations, plans and prospects, including, without limitation, Alnylams views with respect to pursuing INHBE as a therapeutic target for cardiometabolic disease and its goal to identify a development candidate targeting INHBE in the near future, Alnylams aspiration to become a leading biotech company, and the planned achievement of its Alnylam P5x25 strategy, constitute forward-looking statements for the purposes of the safe harbor provisions under The Private Securities Litigation Reform Act of 1995. Actual results and future plans may differ materially from those indicated by these forward-looking statements as a result of various important risks, uncertainties and other factors, including, without limitation: the direct or indirect impact of the COVID-19 global pandemic or any future pandemic on Alnylams business, results of operations and financial condition and the effectiveness or timeliness of Alnylams efforts to mitigate the impact of the pandemic; the potential impact of the recent leadership transition on Alnylams ability to attract and retain talent and to successfully execute on its Alnylam P5x25 strategy; Alnylam's ability to discover and develop novel drug candidates, including a development candidate targeting INHBE, and delivery approaches, and successfully demonstrate the efficacy and safety of its product candidates; the pre-clinical and clinical results for its product candidates; actions or advice of regulatory agencies and Alnylams ability to obtain and maintain regulatory approval for its product candidates, as well as favorable pricing and reimbursement; successfully launching, marketing and selling its approved products globally; delays, interruptions or failures in the manufacture and supply of its product candidates or its marketed products; obtaining, maintaining and protecting intellectual property; Alnylams ability to successfully expand the indication for OXLUMO, ONPATTRO and AMVUTTRA in the future; Alnylam's ability to manage its growth and operating expenses through disciplined investment in operations and its ability to achieve a self-sustainable financial profile in the future without the need for future equity financing; Alnylams ability to maintain strategic business collaborations; Alnylam's dependence on third parties for the development and commercialization of certain products, including Novartis, Sanofi, Regeneron and Vir; the outcome of litigation; the potential impact of current and the risk of future government investigations; and unexpected expenditures; as well as those risks more fully discussed in the Risk Factors filed with Alnylam's most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) and in its other SEC filings. In addition, any forward-looking statements represent Alnylam's views only as of today and should not be relied upon as representing its views as of any subsequent date. Alnylam explicitly disclaims any obligation, except to the extent required by law, to update any forward-looking statements.

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Alnylam Uncovers Genetic Mutations in INHBE That Protect Against Abdominal Obesity - Business Wire

Humans wear cotton every day now, the plant needs genetics’ help to survive – Inverse

Products derived from the cotton plant show up in many items that people use daily, including blue jeans, bedsheets, paper, candles, and peanut butter. In the United States, cotton is a $7 billion annual crop grown in 17 states from Virginia to Southern California. Today, however, its at risk.

Cotton plants from fields in India, China, and the U.S. the worlds top three producers grow, flower, and produce cotton fiber very similarly. Thats because they are genetically very similar.

This can be a good thing since breeders select the best-performing plants and cross-breed them to produce better cotton every generation. If one variety produces the best-quality fiber that sells for the best price, growers will plant that type exclusively. But after many years of this cycle, cultivated cotton all starts to look the same: high-yielding and easy for farmers to harvest using machines, but wildly underprepared to fight disease, drought, or insect-borne pathogens.

Breeding alone may not be enough to combat the low genetic diversity of the cultivated cotton genome, since breeding works with what exists, and what exists all looks the same. And genetic modification may not be a realistic option for creating cotton that is useful for farmers, because getting engineered crops approved is expensive and heavily regulated. My research focuses on possible solutions at the intersection of these tools.

In a perfect world, scientists could change just a few key components of the cotton genome to make plants more resilient to stresses such as pests, bacteria, fungi, and water limitations. And the plants would still produce high-quality cotton fiber.

Heres the background This strategy isnt new. Some 88 percent of the cotton grown in the U.S. has been genetically modified to resist caterpillar pests, which are expensive and hard to manage with traditional insecticides. But as new problems emerge, new solutions will be required that will demand more complex changes to the genome.

Recent advances in plant tissue culture and regeneration make it possible to develop a whole new plant from a few cells. Scientists can use good genes from other organisms to replace the defective ones in cotton, yielding cotton plants with all the resistance genes and all the agriculturally valuable genes.

The problem is that getting regulatory approval for a genetically modified crop to go to market is a long process, often 8 to 10 years. And its usually expensive.

Genetic modification isnt the only option. Researchers today have access to a gigantic amount of data about all living things. Scientists have sequenced the entire genomes of numerous organisms and have annotated many of these genomes to show where the genes and regulatory sequences are within them. Various sequence comparison tools allow scientists to line up one gene or genome against another and quickly determine where all the differences are.

Plants have very large genomes with lots of repetitive sequences, which makes them very challenging to unpack. However, a team of researchers changed the game for cotton genetics in 2020 by releasing five updated and annotated genomes two from cultivated species and three from wild species.

Having the wild genomes assembled makes it possible to start using their valuable genes to improve cultivated varieties of cotton by breeding them together and looking for those genes in the offspring. This approach combines traditional plant breeding with detailed insights into cottons genome.

We now know which genes we need to make cultivated cotton more resistant to disease and drought. And we also know where to avoid making changes to important agricultural genes.

Blue jeans never go out of style.Jena Ardell/Moment/Getty Images

These genomes also make it possible to develop new screening tools to characterize interspecific hybrids the offspring of two cotton plants from different species. Before this information was available, there were two primary forms of hybrid characterization. Both were based on single nucleotide polymorphisms, or SNPs differences between species in a single base pair, the individual building blocks that make up DNA. Even plants with small genomes have millions of base pairs.

SNPs work well if you know exactly where they are located in the genome, if there are no mutations that change the SNPs, and if there are plenty of them. While cotton has SNPs that have been identified and verified in specific regions of the genome, they are few and far between. So characterizing cotton hybrids by focusing exclusively on SNPs would result in incomplete information about those hybrids genetic composition.

These new genomes open the door for developing sequencing-based screening of hybrids, which is something Ive incorporated into my work. In this approach, scientists still use SNPs as a starting point, but they can also sequence the surrounding DNA. This helps to fill in gaps and sometimes discover new, previously undocumented SNPs.

Sequence-based screening helps scientists make more informed and robust maps of the genomes of hybrids. Determining which parts of the genome are from which parent can give breeders a better idea of which plants to cross together to subsequently create better, more productive cotton in every generation.

As the worlds population rises toward a projected 9.8 billion by 2050, demand for all agricultural products will also rise. But making cotton plants more productive is not the only goal of genetic improvement.

Climate change is raising average global temperatures, and some important cotton-producing regions like the U.S. Southwest are becoming drier. Cotton is already a crop accustomed to heat our research plots can thrive in temperatures as high as 102 degrees Fahrenheit (39 C) but one cotton plant requires about 10 gallons (38 liters) of water over the course of a four-month growing season to achieve its maximum yield potential.

Researchers have started to search for cultivated cotton that can tolerate drought at the seedling stage, and also in hybrid lines and genetically modified lines. Scientists are optimistic that they can develop plants that have higher drought resilience. Along with many other cotton breeders around the world, my goal is to create more sustainable and genetically diverse cotton so that this essential crop can thrive in a changing world.

This article was originally published on The Conversation by Serina Taluja at Texas A&M University. Read the original article here.

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Humans wear cotton every day now, the plant needs genetics' help to survive - Inverse

Views of Canadian healthcare professionals on the future uses of non-invasive prenatal testing: a mixed method study | European Journal of Human…

Views of Canadian healthcare professionals on the future uses of non-invasive prenatal testing: a mixed method study | European Journal of Human Genetics  Nature.com

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Researchers find new genetic mutation causing autism through study of patients and families – KBR

A Seoul National University Bundang Hospital (SNUBH) research team has discovered a new gene mutation related to the cause of autism for the first time worldwide through a large-scale genetics study of autistic patients and their families.

Autism is a developmental disorder characterized by repetitive behavior or narrowness of interest along with a lack of communication or social interaction, as shown in the popular drama "Extraordinary Attorney Woo." Typically, characteristic symptoms are revealed around the age of 2. Considering the brain develops quickly, early intervention is important.

Genes play a major role in the development of autism, but the specific genes and their role in early brain development have not been identified. Consequently, there are no treatments for autism symptoms, such as social deficits or communication disorders, but only medication to cure impulsivity or anxiety symptoms.

Professor Yoo Hee-jeong of the Neuropsychiatry Department at SNUBH conducted the joint study with Professors Lee Jeong-ho and Choi Jun-kyun of the Korea Advanced Institute of Science and Technology (KAIST), Institute of Basic Science Director Kim Eun-joon, and others to identify the genetic mutations that cause autism for the development of therapeutics.

The joint group focused on the brains non-coding region, a genomic region that accounts for more than 98 percent of the genomic data but was excluded from the study as it does not directly produce proteins. Researchers received blood from 813 people autism patients and their family members suitable for the study and analyzed the genome, produced human stem cells to reproduce prenatal neurons.

Results revealed that genetic mutations in the non-coding region affect brain development by remotely influencing distant genetic mutations through interactions in three-dimensional spaces in early stages of neurodevelopment.

This study changes the autistic research paradigm, which previously focused only on areas encoding existing proteins, and reveals new target genes to determine the root cause of autism. Professor Yoo said.

Yoo added that the team has identified the hidden secret of autism using data unique to Koreans' autism parties and families and are very grateful for the dedication of the participants in this study.

We will continue research to help improve the lives of autistic people and their families, Yoo said.

The study was published in the latest issue of the Molecular Psychiatry journal.

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Researchers find new genetic mutation causing autism through study of patients and families - KBR

Harry Shum Jr. Joins Greys Anatomy For Season 19 – Deadline

EXCLUSIVE: Glee alum Harry Shum Jr. rounds out the group of five new resident cast additions for the upcoming 19th season of ABCs venerable medical drama Greys Anatomy. He joins recently cast Adelaide Kane, Alexis Floyd, Niko Terho and Midori Francis. All five will play first-year surgical residents at Grey Sloan, which was ordered to disband and rebuild its teaching program in the Season 18 finale.

Primetime-Panic

Your Complete Guide to Pilots and Straight-to-Series orders

Shums Daniel Blue Kwan is sharp-witted, impatient and brilliant. He is generous by nature but competitive to a fault, naturally gifted, and used to winning at everything. A family crisis interfered with his career plans and now hes got a lot to prove.

The character description hints at a backstory that would explain why Daniel is a little older than your typical medical resident.

Known for his roles in Foxs Glee and Freeforms Shadowhunters, Shum alsostarred in, produced and co-choreographed The LXD (Legion of Extraordinary Dancers), a Hulu dance series created by Jon M. Chu who also directed Shum in the hit movie Crazy Rich Asians. Hes next set to reprise his Crazy Rich Asians role of Charlie Wu in the upcoming spinoff movie which centers around Gemma Chans character of Astrid Young Teo and her romance with Charlie.

Shum plays one of the leads in this years breakout indie hit Everything Everywhere All at Once. He also stars in and executive produces technological thriller Broadcast Signal Intrusion, which premiered at SXSW and had a domestic theatrical/VOD release in fall 2021. It is now available on-demand. Last year, Shum starred alongside Nina Dobrev and Jimmy O. Yang in Netflixs holiday movie Love Hard.

Additionally, Shum has partnered with The Conscious Kid and is working with the organizations Anti-Racist Childrens Book Education Fund initiative. He is repped by Paradigm, Triniti Management, and Goodman, Genow, Schenkman, Smelkinson & Christopher.

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Harry Shum Jr. Joins Greys Anatomy For Season 19 - Deadline

Grey’s Anatomy Vet Cheers ‘Classic Cast’ Plus the Flurry of ‘Exciting and Gorgeous’ Additions for Season 19 – TVLine

Greys Anatomys influx of five (count em, five) cast additions for Season 19 are exciting as well as gorgeous, says series vet Caterina Scorsone.

As announced in recent weeks, a quintet of first-year surgical residents are about to roam the halls of Grey Sloan Memorial this fall. You have Adelaide Kane (Reign) as Jules Millin, who was raised by drug addled artist/hippies and somehow emerged as the only real grown-up in the family, plus Harry Shum Jr. (Glee) as Daniel Blue Kwan, a sharp-witted, impatient and brilliant resident who is generous by nature but competitive to a fault.

Also new for Season 19 are Niko Terho who starred opposite Greys Jake Borelli in the 2020 Freeform movie The Thing About Harry as Lucas Adams, who is determined to prove himself as a surgeon (just like many in his family that have come before him), and Midori Francis (Sex Lives of College Girls) as Mika Yasuda, a middle child with eight siblings who is used to being overlooked and underestimated (and uses it to her advantage).

Last but perhaps most curiously, you have Alexis Floyd (Inventing Anna) playing Simone Griffin, a high-achieving and whip-smart young woman who grew up in Seattle but never wanted to work at Grey Sloan because of a painful personal history with the hospital.

Series vet Scorsone, who plays Amelia, tweeted on Saturday night that she had the season premiere script in hand and was memorizing her lines, before adding, The classic cast is ready and revving. The new cast additions are exciting and gorgeous. Inside and out.

Are you as excited for the infusion (transfusion?) or new blood for Greys Anatomy Season 19?

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Grey's Anatomy Vet Cheers 'Classic Cast' Plus the Flurry of 'Exciting and Gorgeous' Additions for Season 19 - TVLine

Multimodal anatomy of the human forniceal commissure | Communications Biology – Nature.com

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