Category Archives: Human Genetics

You might normally associate fiery red hair with people of Irish descent, but the unique trait can also be found throughout a number of diverse ethnic backgrounds.

MORE: The Aboriginal Australians: The First Inhabitants Of Australia Were Black People

Africans and people from the Caribbean have also been known to don bright red hair due to a gene mutation in the melanocortin 1 receptor commonly referred to as MC1R. The special gene regulates melanin in skin pigmentation, the eyes, and hair. However, the distinctive trait only occurs in an individual when both parents carry the unique receptive gene. Scientists believe that the distinct gene mutation is more common in climates where there is little to no harmful sun exposure.

According to the Special Broadcasting Service (SBS), about 35% of people in Ireland and Scotland carry the MC1R receptor and roughly 10% have red hair. Globally, only 1 to 2% of the population have red hair, which is why its quite rare to see Black people with the unique feature, but they do exist.

Barry Starr, a geneticist from Stanford University told Vice that Red hair carriers in the Caribbean and Africa are for the most part due to migration or gene flow.

The last evidence I saw, was that there was a strong selection pressure against changes in the MC1R gene that caused it not to work in regions with a lot of sunlightthink Africa, Dr. Star explained. This probably has to do with the pale skin that comes with red hair. This means that even if an MC1R mutation did spontaneously appear previously in African populations, as it did multiple times in Europe, it did not spread and eventually petered out.

The red hair trait may have developed from historical interactions between Europeans and Africans in the Caribbean in the 1600s. Catholic Irish people were sent to the West Indies as indentured servants during that time period.

This might also explain why you occasionally see red hair on a black Caribbean person who has two black parents. By chance alone, it might be that they are both carrying a European mutation which has come together in their child, Dr. George Busby an expert from the Wellcome Trust Centre for Human Genetics, added to the publication.

Additionally, red hair can also occur in Black people as a result of Albinism, a genetic condition that reduces melanin in the skin. The rare trait usually occurs in people who haverufous Albinism, which, in addition to red hair, can cause an individual to have golden or bronze skin as well as blue eyes.

SEE ALSO:

The History Of Black People With Blue Eyes

Irelands Earliest Inhabitants Were Black People With Blue Eyes

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The Origins Of Black People With Red Hair - NewsOne

Globally, the Covid-19 pandemic has led to a profound shift in how organisations develop, invest, and deploy technologies to meet their net-zero climate commitments. Companies must consume less energy and use it more efficiently to reduce carbon emissions. Although this sounds easy, we all know its difficult, especially if there is no correct data. Todays digital technologies, data, and artificial intelligence have the power to accelerate businesses sustainability transformation. Aveva has played a central role in helping companies develop energy-related roadmaps and solutions that reduce greenhouse gas emissions while still meeting the worlds energy demands.

The technology sector presents opportunities because we can deploy at scale and connect different companies and different operations through data, which then opens up new insights that can be used to solve sustainability challenges. For example, to address the current climate crisis, we must implement technology that we already have while also innovating to develop new solutions to help reach the internationally agreed goals, said Lisa Wee, vice president Sustainability at Aveva.

Aveva PI WorldAt the recently held Aveva PI World Amsterdam 2022, the company demonstrated how contextualised data is an essential component to sustainable growth in sectors such as power, manufacturing, and infrastructure. Focusing on primarily creating a space for customers and partners to share how they are transforming their organisations and industries, the four-day event, which took place from May 16-19, 2022, gave an overview of the new developments and solutions. Furthermore, the learning labs offered hands-on technical practice in cloud and data environments.

In the keynote speech, Peter Herweck, chief executive officer of Aveva, discussed how the companys information-led innovation provides a proven and flexible path to industrial growth at a critical time when the business landscape has been reshaped by turbulence and risk. Industries are facing complex challenges in a turbulent market environment. Business leaders face increased sustainability compliance requirements, retiring workforces, and the ever-present demand for efficiency, agility and resilience. Raw data in itself is not immediately useful or even understandable, but when you analyse and contextualise it into insightful information, thats when you can help the industrial world to innovate at scale on the road to a net-zero future.

According to the International Energy Agency (IEA), industries have committed to dramatically reducing emissions in the next 25 years. With digitalisation driving sustainability, Aveva aims to help accelerate the organisations to reach their goals. We spark industrial ingenuity by connecting people with trusted information and insights and also help drive responsible use of the worlds resources, he added.

Fostering sustainable use of dataThe event also witnessed Amish Sabharwal, executive vice president of Engineering at Aveva and Gregg Le Blanc, senior vice president of Information Management at Aveva, outline the companys integrated portfolio and elaborate on the product roadmap for 2022 and beyond.Le Blanc pointed out that 50 per cent of data was created in the last two years and how this will continue even in 2024. Meanwhile, according to the Seagate Rethink Data Survey, IDC, 2020, while 56 per cent of data is captured through operations, 68 per cent of data goes unleveraged. With half a century of experience and over 20,000 customers, Aveva believes it is uniquely placed to deliver a complete digital thread purpose built for the industry.

Industrial companies struggle to share timely, accurate data across their global ecosystem. And organisations that share data externally with its partners generate 3X more measurable economic benefit than those that do not, said Le Blanc.We launched Aveva Data Hub earlier this year, a software-as-a-service offering that enables businesses to gain operational efficiencies, boost sustainability and drive digital transformation with data sharing capabilities. Data is the accelerator of the connected economy, and our open and agnostic solutions leverage customers existing investments and enable a connected community across the ecosystem.

Driving digital transformationWith digital twins gaining momentum currently, thanks to rapidly evolving simulation and modelling capabilities, better interoperability and IoT sensors, and more available tools and computing infrastructure, Gartner predicts that the digital twin market will cross the chasm in 2026 to reach $183bn in revenue by 2031. For clarity, a digital twin is a virtual presentation of an object or system that serves as the real-time digital counterpart of a physical object or a process.Digital twin recreates a physical asset in digital form by capturing, organising and contextualising data in a quantifiable form. When these models are used to forecast future scenarios, they can predict potential problems, improve asset reliability, reduce costs and resource use, and minimise carbon emissions, commented Sabharwal.

During the event, Aveva announced that its engineering information management solutions, the core of its digital twin, now deliver more significant time and value gains for capital projects and operations. In addition, its customers can now experience a complete digital twin within just 60 days, even in the absence of existing models. Through two new partnerships, Avevas engineering information management solutions are now integrated with Assais integrated document management system, and data is captured by NavVis wearable mobile mapping systems. As a result, laser scans can be delivered much faster than the existing stationary scanners.Digital twins have never been more important. They will play a central role in uncovering opportunities to unlock ingenuity and achieve the efficiency and sustainability gains needed to enable net-zero carbon emissions, added Sabharwal.

Customer success storiesWith over 2500 delegates joining the event in person and online, more than 70 companies in 12 industry verticals shared their experience of the data-led digital transformation. The guest speaker at the event, Dr Catherine Green, associate professor at the Wellcome Centre for Human Genetics at Oxford University, explains how data helped develop the Oxford vaccine. Despite lockdowns and remote working, we were able to develop and bring to market the Oxford AstraZeneca vaccine in eight months as compared to eight years before the outbreak of Covid-19, thanks to improved data collection, advanced analytics and distributed trials and manufacturing, she commented.

We are at the transition point where you can bring new tech to old problems. And data is going to change everything that we do here. Its going to change our ability to analyse the problem, deliver the solution, and communicate with the healthcare sector and with the public.Michael Dean, global director of Kelloggs Power, Controls and Information System, explained how the companys platform investment has yielded benefits in terms of scale, consistency, standardisation and collaboration. Kelloggs has 50 manufacturing sites worldwide, and installing Aveva PI System has helped leverage, analyse and manage energy data in its factories, creating a digital ecosystem that benchmarked usage and identified opportunities for savings, observed Dean. As a result, we saved $3.3m in a single year, identified an additional $1.8m in rebates, and optimised abatement measures.

Meanwhile, Jan Broekman, vice president of Global Engineering and Smart Modularisation, at McDermott, offered insight into how digital solutions integrated multiple inputs to build a sustainable capital project, including real-time commodity prices and low-carbon design.

The event also witnessed an intriguing panel discussion on digital agility and resiliency. Sophie Borgne, senior vice president Digital Power Line of Business at Schneider Electric, explained how they have cut carbon emissions by 25 per cent. We have been looking at sustainability for a long time, and earlier, we lacked real-time data and insight on how to improve operational efficiency. Our partnership with Aveva helped deploy the right tools, which increased the visibility and real-time information to help operators make the right decisions. As a result, we reduced electricity use by 25 per cent, and also we cut overall carbon emission by 25 per cent. Meanwhile, Dean stated the explicit goals of Kelloggs for 2030 and 2050. We look at how to manufacture products more sustainably. For instance, we leveraged the Aveva PI System, which significantly reduced our energy consumption.

Jacky Wright, the chief digital officer at Microsoft, talked about how data accelerates sustainability progress. A cloud-based, data-driven approach enabled us to assess, select and build new technologies, and reduce our scope 1, scope 2, and, ultimately, scope 3 emissions across our business. She further explained how data analytics has supported smart buildings, investment in renewable energy to power data centres, and driven strategic decisions to pay for the removal of 1.3 million metric tonnes of carbon dioxide from the atmosphere.

Whats nextAveva envisions optimising the entire industrial ecosystem, connecting people with industrial intelligent-as-a-service. We apply the advanced, proven technologies to drive our customers success and enable them to achieve more. Going forward, we are building blocks for the Aveva industrial metaverse using Aveva XR to solve many different customers use cases in operations engineering, said Andrew McCloskey, CTO and EVP R&D in the closing note.

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Here's how Aveva is unlocking the value of industrial data - Gulf Business

The field of Human Genetics has grown dramatically in recent years, in large part due to rapid advances in new technologies for discovery and the explosion of new data and resources. Human Genetics interfaces with multiple research and clinical disciplines, with new opportunities for those with advanced training in basic science, clinical diagnostics and industry. The Master's Degree Program (M.S.) in Human Genetics provides focused graduate training through both coursework and laboratory research. It is designed for individuals seeking advanced training in genetics for employment research opportunities or for matriculation to competitive Ph.D., M.D. or other advanced degree programs. Over the past six years, 100% of our graduates have obtained employment or academic placement in areas of choice. The course of study can be completed in 2-4 semesters.

The Human Genetics MS program includes both Research and Coursework-only tracks.

Research Track: The research track allows graduate students to learn from and contribute to ground-breaking research being performed within the Department of Human Genetics. Students in this track typically matriculate in the summer or fall concurrent with acceptance into the laboratory of a faculty mentor in Human Genetics. Students will take courses and conduct laboratory research during the Fall and Winter terms culminating with acceptance of a written M.S. thesis to be completed in the summer term.

Coursework Track: The coursework-only track is a non-research track most suitable for applicants interested in matriculating to medical, law or other professional programs. Students in this track typically matriculate in the fall and complete course work during Fall and Winter terms.

The course of study in either track supports the development of critical thinkers, as students learn from world-renowned leaders in the field of Human Genetics. Students enjoy multiple opportunities for close mentorship by these experts, as well as the ability to take electives in related departments within the Medical School and elsewhere in the University of Michigan community.

The application deadline for International students is March 15th; April 1st for domestic applicants.

Prerequisites and Admission Requirements:

* Successful applicants for the M.S. Degree Program in Human Genetics will generally have a GPA of 3.0 or higher and competitive standardized test scores, but admission decisions will be based on the total package of GPA, GRE, or MCAT scores, research and other relevant experience, statement of purpose and personal statement.

** Due to difficulties caused by Covid-19 restrictions in taking GRE and MCAT examinations these examinations, while preferred, will not be required for the 2021 or 2022 admissions cycles.

Questions about the program or application process? See our FAQ section.

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Master's Degree in Human Genetics | Human Genetics | Michigan Medicine ...

SUNNYVALE, Calif., May 12, 2022 (GLOBE NEWSWIRE) -- 23andMe Holding Co. ( ME) (23andMe), a leading consumer genetics and research company, announced today that it will report financial results for the fiscal year 2022 (FY2022) fourth quarter and full year after the market closes on Thursday, May 26, 2022. The Company will webcast a conference call at 4:30 p.m. Eastern Time to discuss the quarters financial results and report on business progress.

The webcast can be accessed on the day of the event at https://investors.23andme.com/news-events/events-presentations. A webcast replay will be available at the same address for a limited time within 24 hours after the event.

In addition, 23andMe will use the Say Technologies platform to allow retail and institutional shareholders to submit and upvote questions to management. Starting on May 19, 2022, shareholders can submit questions ahead of earnings by visiting https://app.saytechnologies.com/23andme-2022-q4. The Q&A platform will remain open until 24 hours before the earnings call.

About 23andMe23andMe, headquartered in Sunnyvale, CA, is a leading consumer genetics and research company. Founded in 2006, the Companys mission is to help people access, understand, and benefit from the human genome. 23andMe has pioneered direct access to genetic information as the only company with multiple FDA authorizations for genetic health risk reports. The Company has created the worlds largest crowdsourced platform for genetic research, with 80 percent of its customers electing to participate. The 23andMe research platform has generated more than 200 publications on the genetic underpinnings of a wide range of diseases, conditions, and traits. The platform also powers the 23andMe Therapeutics group, currently pursuing drug discovery programs rooted in human genetics across a spectrum of disease areas, including oncology, respiratory, and cardiovascular diseases, in addition to other therapeutic areas. More information is available at http://www.23andMe.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E of the Securities Exchange Act of 1934, as amended, including statements regarding the future performance of 23andMes businesses in consumer genetics and therapeutics and the growth and potential of its proprietary research platform. All statements, other than statements of historical fact, included or incorporated in this press release, including statements regarding 23andMes strategy, financial position, funding for continued operations, cash reserves, projected costs, plans, and objectives of management, are forward-looking statements. The words "believes," "anticipates," "estimates," "plans," "expects," "intends," "may," "could," "should," "potential," "likely," "projects," "continue," "will," schedule, and "would" or, in each case, their negative or other variations or comparable terminology, are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. These forward-looking statements are predictions based on 23andMes current expectations and projections about future events and various assumptions. 23andMe cannot guarantee that it will actually achieve the plans, intentions, or expectations disclosed in its forward-looking statements and you should not place undue reliance on 23andMes forward-looking statements. These forward-looking statements involve a number of risks, uncertainties (many of which are beyond the control of 23andMe), or other assumptions that may cause actual results or performance to be materially different from those expressed or implied by these forward-looking statements. The forward-looking statements contained herein are also 8-K filed with the Securities and Exchange Commission (SEC) on June 21, 2021 and in 23andMes Current Report on Form 10-Q filed with the SEC on February 11, 2022, as well as other filings made by 23andMe with the SEC from time to time. Investors are cautioned not to place undue reliance on any such forward-looking statements, which speak only as of the date they are made. Except as required by law, 23andMe does not undertake any obligation to update or revise any forward-looking statements whether as a result of new information, future events, or otherwise.

Investor Relations Contact: [emailprotected]Media Contact: [emailprotected]

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23andMe to Report FY2022 Fourth Quarter and Full Year Financial Results - GuruFocus.com

Renowned Physicians and Academic Leaders to Provide Strategic Guidance for Geneoscopy's Upcoming Scientific and Regulatory Milestones

ST. LOUIS, June 21, 2022 /PRNewswire/ --Geneoscopy Inc.,a life sciences company focused on the development of diagnostic tests for gastrointestinal (GI) health, today announced the formation of its Scientific Advisory Board (SAB) comprised of leading experts in gastroenterology, oncology, and internal medicine. The SAB will provide strategic input based on their scientific knowledge and clinical expertise to help guide Geneoscopy through the development, regulatory and commercial phases for their RNA-based technology to improve GI health, starting with colorectal cancer.

The seven-member SAB includes:

"Gastrointestinal diseases affect 70 million Americans,1 and for some such as colorectal cancer, survival is highly dependent upon the stage of disease at diagnosis. The advancement of new technologies is critical for the early detection, diagnosis and potentially even prevention of these illnesses," noted Board member David Lieberman, M.D. "I am pleased to serve as the Chair of this esteemed group of thought leaders as we work together to shape the future of GI health and help guide Geneoscopy's efforts to maximize the potential of their promising technology to improve the standard of care for patients and providers."

"The establishment of our Scientific Advisory Board is a significant step forward in our mission to transform GI health. We are pleased to assemble such a distinguished panel of advisors and look forward to their deep insights as leading experts in their fields. Our SAB members' valuable guidance will inform the clinical and commercial advancement of our innovative RNA technology for other potential and future applications currently under investigation," stated Haytham Gareer, M.D., Ph.D., MBA, FACS, Chief Medical Officer.

About Geneoscopy Inc.

Geneoscopy Inc. is a life sciences company focused on the development of diagnostic tests for gastrointestinal health. Geneoscopy's lead diagnostic uses stool-derived eukaryotic RNA (seRNA) to detect colorectal cancer and precancerous adenomas. This device was awarded Breakthrough Device Designation from the U.S. FDA for its ability to reduce morbidity associated with colorectal cancer through advanced adenoma detection. Indicative of its breakthrough status, preliminary trials suggest that the diagnostic can detect these lesions at a higher rate than all existing noninvasive screening tests. Visitgeneoscopy.comto learn more.

Geneoscopy Inc. Forward-Looking Statements

The information contained in this release includes information about Geneoscopy's future plans concerning its noninvasive molecular test that can detect colorectal cancer and precancerous adenomas, and as such constitute forward-looking statements. These forward-looking statements are based upon the Company's reasonable estimates of future results or trends. Because forward-looking statements relate to the future, they are subject to inherent uncertainties, risks and changes in circumstances that are difficult to predict and many of which are outside of the Company's control. Geneoscopy's actual results and financial condition may differ materially from those indicated in the forward-looking statements. Although the Company believes that its business plans and objectives reflected in or suggested by these forward-looking statements are reasonable, such plans or objectives may not be achieved, and the actual results may differ substantially from the projected results.

Media ContactSuzanne HaberGreen Room Communications[emailprotected]

SOURCE Geneoscopy Inc.

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Geneoscopy Announces Formation of Scientific Advisory Board to Inform Strategy for the Advancement of Gastrointestinal Health - PR Newswire

UPPSALA, Sweden, May 09, 2022 (GLOBE NEWSWIRE) -- Olink Holding AB (publ) ( OLK) today announced that Oxford Genomics at the University of Oxford adopts the Olink technology and becomes the first Olink certified laboratory in the United Kingdom. The partnership will enable novel techniques to unravel mechanisms of disease using the Olink Explore platform.

Oxford Genomics is centered within the Wellcome Centre of Human Genetics which was formed in the founding years of the Human Genome Project; they have been producing cutting edge research for more than two decades. As we move into an age of multi-omic analysis to truly understand the linkage between disease and phenotype, proteomics is an essential tool to complement their other cutting-edge technologies.

With the recent establishment of the Oxford-GSK Institute, Olink Explore will be utilized to build a multiomics approach to mapping molecular mechanisms of complex diseases such as Parkinsons and Alzheimers. Expertise in machine learning and bioinformaticians at Oxfords Big Data Institute will be able to leverage these datasets to pinpoint novel targets and identify signatures to stratify patients.

By utilizing the Olink platform we are interested in discovering biomarkers and early disease signatures in common diseases, because they would provide clues to druggable targets and readouts we can use to test potential therapeutic candidates, said Prof John Todd Director of Wellcome Centre for Human Genetics and Co-Director of Oxford GSK Institute. We are trying to make the drug development process more precise by understanding the heterogeneity in the patients instead of one drug fits all.

The new Olink Explore 3072 platform enables access to an expanded library of carefully curated and validated assays to provide detailed proteomics data to improve understanding of human health. The Olink market-leading proteomics solution measures up to 3,000 proteins per sample using Proximity Extension Assay (PEA) technology combined with next generation (NGS) sequencing readout, providing a highly accurate and reproducible multiplexed method with exceptional specificity.

We are immensely proud to lay the foundation of a long lasting and prosperous partnership with such a prestigious institution as the University of Oxford, utilizing our technology as the first Olink certified laboratory in the United Kingdom. This partnership demonstrates the importance of academic partners in pioneering the establishment of new technologies. It will further democratize the use of the Olink platform in line with our mission to accelerate proteomics together with the scientific community, said Jon Heimer, CEO, Olink Proteomics. The objective is to create a better understanding of the origin of diseases, provide earlier and more accurate diagnoses with individualized treatment and enable more efficient and safer drug development.

Investor Contact Jan Medina, CFAVP Investor Relations & Capital MarketsMobile: +1 617 802 4157[emailprotected]

Media Contact Andrea PranderCorporate Communications Manager Mobile: +46 768 775 275[emailprotected]

About OlinkOlink Holding AB ( OLK) is a company dedicated to accelerating proteomics together with the scientific community, across multiple disease areas to enable new discoveries and improve the lives of patients. Olink provides a platform of products and services which are deployed across major pharmaceutical companies and leading clinical and academic institutions to deepen the understanding of real-time human biology and drive 21st century healthcare through actionable and impactful science. The company was founded in 2016 and is well established across Europe, North America and Asia. Olink is headquartered in Uppsala, Sweden.

About Wellcome Centre for Human GeneticsThe Wellcome Centre for Human Genetics (WCHG) is a research institute of the Nuffield Department of Medicine at the University of Oxford, funded by the University, Wellcome, and numerous other sponsors. It is based in purpose-built laboratories on the University of Oxfords Biomedical Research Campus in Headington, one of the largest concentrations of biomedical expertise in the world. Here our researchers are able to work closely with colleagues across University departments including, but not limited to, the Department of Psychiatry, the Division of Cardiovascular Medicine and theBig Data Institute.

With more than 400 active researchers and around 70 employed in administrative and support roles, the Centre is an international leader in genetics, genomics and structural biology. WCHG collaborates with research teams across the world on a number of large-scale studies in these areas. WCHGs researchers expend close to 20m annually in competitively-won grants and publish around 300 primary papers per year.https://www.well.ox.ac.uk/

About the University of OxfordOxford University has been placed number 1 in the Times Higher Education World University Rankings for the sixth year running, and number 2 in the QS World Rankings 2022. At the heart of this success are the twin-pillars of our ground-breaking research and innovation and our distinctive educational offer.

Oxford is world-famous for research and teaching excellence and home to some of the most talented people from across the globe. Our work helps the lives of millions, solving real-world problems through a huge network of partnerships and collaborations. The breadth and interdisciplinary nature of our research alongside our personalised approach to teaching sparks imaginative and inventive insights and solutions.

Through its research commercialisation arm, Oxford University Innovation, Oxford is the highest university patent filer in the UK and is ranked first in the UK for university spinouts, having created more than 200 new companies since 1988. Over a third of these companies have been created in the past three years. The university is a catalyst for prosperity in Oxfordshire and the United Kingdom, contributing 15.7 billion to the UK economy in 2018/19, and supports more than 28,000 full time jobs.

Forward-Looking StatementsThis release may contain forward-looking statements within the meaning of applicable securities laws, including the U.S. Private Securities Litigation Reform Act of 1995, as amended, including, without limitation, statements regarding Olinks strategy, business plans and focus. The words may, will, could, would, should, expect, plan, anticipate, intend, believe, estimate, predict, project, potential, continue, target and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. Any forward-looking statements in this press release are based on managements current expectations and beliefs as of the date hereof and are subject to a number of risks, uncertainties and important factors that may cause actual events or results to differ materially from those expressed or implied by any forward-looking statements contained in this press release, including, without limitation, those related to Olinks business, operations, supply chain, strategy, goals and anticipated timelines, including for the delivery of Olink Explore 3072 and the expansion of the Explore platform, competition, and other risks identified in the section entitled Risk Factors in Olinks Registration Statement on Form F-1, as amended (File No. 333-253818) filed with the U.S. Securities and Exchange Commission (SEC) and in the other filings, reports, and documents Olink files with the SEC from time to time. Olink expressly disclaims any obligation to update any forward-looking statements in this release to reflect any change in its expectations with regard thereto or any change in events, conditions or circumstances on which any such statement is based, unless required by law or regulation.

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University of Oxford adopts Olink technology to advance protein biomarker discovery and unravel mechanisms of disease - GuruFocus.com

The American Society for Biochemistry and Molecular Biology announced today the winners of its annual awards. Colleagues and other leaders in the field nominated the winners for making significant contributions to biochemistry and molecular biology and to the training of emerging scientists.

The recipients will give talks about their work at the societys2023 annual meeting, Discover BMB, slated for March 2528 in Seattle.

In addition to cash prizes ranging from $500 to $35,000, each ASBMB award consists of a plaque and transportation expenses to the ASBMB annual meeting.

Learn more about the ASBMB awards.

Regina Stevens-Truss

Recognizes an individual who encourages effective teaching and learning of biochemistry and molecular biology.

Regina StevensTruss is a professor at Kalamazoo College in Michigan who has served in numerous leadership positions at the ASBMB. She has been a member of the societys Education and Professional Development Committee and Minority Affairs Committee (now Maximizing Access Committee). She is a past member of the steering committee that created the concept-driven teaching strategies that laid the foundation for the ASBMBs certification exam. She was the principal investigator in 2012 on a National Science Foundation grant that supported a STEM K-12 outreach initiative by the society called Hands-on Outreach to Promote Engagement in Science (HOPES for short).

Squire Booker

Recognizes outstanding contributions to research in biochemistry and molecular biology.

Squire J. Bookeris an Evan Pugh professor of chemistry and of biochemistry and molecular biology and the Eberly Family distinguished chair in science at The Pennsylvania State University. He is also an investigator of the Howard Hughes Medical Institute. His lab studies catalytic mechanisms of redox enzymes involved in natural product biosynthesis and human health. He is deputy editor of ACS Bio & Med Chem Au, an open-access journal of the American Chemical Society, and an executiveassociate editor of the ACS journal Biochemistry. He becamean inaugural fellowof the ASBMB in 2021. He also won this years Ruth Kirschstein Diversity in Science Award. (See below.)

Russell DeboseBoyd

Recognizes outstanding research contributions in the area of lipids.

Russell DeBoseBoydis the Beatrice and Miguel Elias distinguished chair in biomedical science and professor of molecular genetics at the University of Texas Southwestern Medical Center at Dallas. DeBoseBoyds lab studies regulatory mechanisms governing feedback regulation of HMG-CoA reductase, the rate-limiting enzyme in cholesterol synthesis. He is an associate editor for the Journal of Lipid Research and an editorial board member for the Journal of Biological Chemistry, both ASBMB journals. Readour Q&Awith DeBoseBoyd.

Erica Saphire

Awarded to an established scientist for outstanding accomplishments in basic biomedical research.

Erica Ollmann Saphire is a professor and the president and chief executive officer of the La Jolla Institute for Immunology. Saphires lab has solved structures of key proteins of the Ebola, Marburg, rabies and Lassa viruses and explained how they remodel these structures as they drive themselves into cells, how their proteins suppress immune function and where human antibodies can defeat these viruses. She used this information to galvanize two international consortia of former competitors to advance antibody therapeutics together. Saphire is a two-time ASBMB award winner. In 2015, she won the ASBMB Young Investigator Award.

Eytan Ruppin

Given to a scientist forthemost accessible and innovative development or application of computer technology to enhance researchin the life sciencesat the molecular level.

Eytan Ruppin is a computational biologist and chief of the Cancer and Data Science Laboratory in the Center for Cancer Research at the National Cancer Institute. His lab develops computational approaches for the integration of multiomics data to understand better the pathogenesis and treatment of cancer. His research focuses on basic and translational studies aimed at broadening the scope of precision oncology to the realm of tumor transcriptomics.

Scott Dixon

Awarded to a scientist with 10 years or less of post-postdoctoral experience.

Scott Dixonis an associate professor in the biology department at Stanford University.His labstudies cell death and lipid metabolism using small-molecule screening, biochemical analysis of protein function, and model organism genetics. Dixon is a member of theprogram planning committeefor Discover BMB, the societys annual meeting.

Anne Kenworthy

Recognizes and honors scientists at all stages of their careers who have made substantial advances in understanding biological chemistry using innovative physical approaches.

Anne Kenworthy is a professor of molecular physiology and biological physics at the University of Virginia and the assistant director of its Center for Membrane and Cell Physiology. Her lab studies membrane nanodomains, such as lipid rafts and caveolae, to learn how they assemble and function in health and disease. (Read about her recent high-content analysis of membrane vesicles.)Together with collaborators at the University of Michigan and Vanderbilt University, her group also recently provided the first glimpse into molecular architecture of an essential building block of caveolae oligomeric complexes formed by the membrane protein caveolin-1.

Squire Booker

Honors an outstanding scientist who has shown a strong commitment to the encouragement of scientists from historically marginalized groups.

This is the second award this year forSquire J. Booker, a professor and distinguished chair at The Pennsylvania State University. (See the ASBMBMerck Award above.) Booker is a past chair of the ASBMBs Minority Affairs Committee and established the ASBMBgrant-writing workshop, which now is known as the Interactive Mentoring Activities for Grantsmanship Enhancement workshop. He also co-organized the 2016 ASBMB annual meeting. He now serves on the Finance and Nominating committees.

Itay Budin

Recognizes outstanding research contributions in the area of lipids by a young investigator.

Itay Budin is an assistant professor of chemistry and biochemistry at the University of California San Diego. His laboratory uses approachesranging from membrane biophysics to synthetic biology to investigate lipid function. Current areas of focus in his lab include the inner mitochondrial membrane and lipid adaptation for life in extreme conditions. In 2017, Budin received a Journal of Biological Chemistry/Herbert Tabor Young Investigator Award.

Catherine Drennan

Recognizes outstanding contributions to biochemical and molecular biological research and a demonstrated commitment to the training of younger scientists.

Catherine Drennanis a professor at the Massachusetts Institute of Technology and a Howard Hughes Medical Institute investigator.Drennans labstudies the structural biology of metalloenzymes. Her teams targets have included multiple enzymes that depend on metal cofactors, such as ribonucleotide reductase, an early enzyme in DNA biosynthesis. She is a former member of the ASBMB Education and Professional Development Committee. As a postdoctoral fellow, she started the undergraduate poster competition at the ASBMBs annual meeting. Her pedagogical work includes research into best practices for active lectures and the development of resources that help undergraduates appreciate the value of chemical principles in biology and medicine. She was a member of the ASBMBsinaugural classof fellows in 2021.

Gira Bhabha

Recognizes individuals with a strong commitment to advancing the careers of women in biochemistry and molecular biology along with demonstrated excellence in research and/or service.

Gira Bhabhais an assistant professor at the NYU Grossman School of Medicine, where she began her independent career in 2017. The Bhabha lab works closely with the lab of Damian Ekiert; since their inception, the two labs have functioned synergistically as a single group. TheBhabha and Ekiert labsstudy structural mechanisms and cell biology of microbes and their interactions with hosts, using integrative approaches including X-ray crystallography, cryo-electron microscopy, cryo-electron tomography, optical microscopy, biochemistry, microbiology and cell biology techniques.

Kerry-Ann Rye

Recognizes individuals with a strong commitment to advancing the careers of women in biochemistry and molecular biology along with demonstrated excellence in research and/or service.

Kerry-Anne Rye is a professor at the University of New South Wales in Sydney and co-editor-in-chief of the ASBMBs Journal of Lipid Research. Before taking the helm at the JLR in 2020, she had been an associate editor since 2008. She has been a research professor since 2013 at UNSW, where she serves as the deputy head of the School of Medical Sciences and studies atherosclerosis and diabetes. Rye was a member of the inaugural class of ASBMB fellows in 2021. She wrote an essay earlier this year about being a member of the society.

Dyann Wirth

Keith Matthews

Recognizes established investigators who are making seminal contributions to the field of molecular parasitology.

Dyann Wirth is a professor at Harvard Universitys T.H. Chan School of Public Health and the Broad Institute. Her lab studies the Plasmodium genus, members of which commonly infect humans with malaria. Her team is working on methods for molecular genetic manipulation of protozoan parasites to analyze genes important for their virulence and resistance to drugs.

Keith Matthewsis a professor at the University of Edinburgh.His laboratorystudies African trypanosomes, parasites spread by the tsetse fly, and the changes they undergo in the fly, using targeted reverse genetic approaches, global RNA and protein analysis, and other strategies.

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ASBMB names 2023 award winners - ASBMB Today

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Strain-specific predation of Bdellovibrio bacteriovorus on Pseudomonas aeruginosa with a higher range for cystic fibrosis than for bacteremia isolates...

Advances in genetic technology have rapidly changed healthcare delivery in low- and middle-income countries. NGS utilization has decreased the time to diagnosis, increased the diagnostic rate, and provided valuable insight into the genotypephenotype correlation of IEI in a timely and cost-effective way28,29. IEI is not uncommon in India; however, their diagnosis is either missed or delayed due to a lack of awareness and a paucity of diagnostic facilities. There is an urgent need to increase testing capacity for early recognition, diagnosis, and management of IEI in our country30,31,32.

We have been diagnosing patients with IEI at our centre for the past 25years. However, services for molecular diagnosis for IEI both in government and commercial sectors have not been available in India until 2016. For molecular diagnosis of IEI, we established academic collaboration with Service Hmatologie, Immunologie et de Cytogntique, Hpital de Bictre, Le Kremlin Bictre, at France in the year 2007. Later, we established collaboration with institutes at Japan (National Defense Medical College, Saitama) and Hong Kong (Department of Paediatric and Adolescent Medicine, University of Hong Kong) in the years 2008 and 2010, respectively. This has facilitated molecular diagnosis for many of our patients with IEI. Our centre was designated as Centre for Advanced Research in diagnosis and treatment for primary immunodeficiency diseases by the Indian Council of Medical Research, Government of India, in 2015. Until 2016, tests available for diagnosis of IEI at our centre include immunoglobulin estimation, NBT, and flow cytometry for several surface and intracellular proteins10. With the increase in patients diagnosed with IEI in the last few years, we felt the need to establish molecular analysis at our centre4. We initiated Sanger sequencing for BTK, CYBB, and WAS genes in our centre in 2016 (Fig.1).

Commercial laboratories in India came up with facilities (targeted exome) for molecular diagnosis of IEI in 2016. Costs incurred for sequencing in commercial laboratories were exorbitant (USD 400500) in 2016 that later reduced in the subsequent years (USD 200 currently). The introduction of targeted NGS for IEI in 2018 at our centre has enabled us to offer this diagnostic modality to many of our patients who could not afford the costs of commercial testing. We have also been able to diagnose more IEIs each year and at a much faster pace than in previous years. The cost of targeted genetic sequencing at our setup is USD 83 per sample. This is much less than the costs incurred at commercial laboratories in India33. In addition, infants less than one year are covered under the JSSK (Janani Sishu Suraksha Karyakram) scheme of the Government of India. They are entitled to avail of NGS free of cost. Our Institute also provides free diagnostic services to patients from low-income groups who cannot afford the NGS charges, and charges are minimal for those who can afford this facility.

We have worked upon and improvised the standard protocol of NGS to suit our setup. We made some ingenious modifications to the recommended protocol to reduce the cost per sample and accommodate more patient samples in each run. Towards this end, we have successfully used half the recommended volume of reagents (however, concentration remained the same) at each successive step by starting with an initial DNA volume of 2.5L instead of 5L. So, a larger number of patient samples could be accommodated in each run. We have effectively run 42 patient samples with a 24-reaction reagent kit for 24 samples.

NGS sample preparation is a tedious and labour-intensive process requiring focus and concentration at each successive step34,35. After chip-loading and sequencing, we did not get results for two runs. On both these occasions, instead of repeating from the start, we started after the library quantification step as we were sure about the quality of the library preparation. So, restarting with the template preparation step instead of beginning from the start in the case of a failed run could be a helpful strategy if we are sure about the quality of library preparation.

We describe preliminary results of targeted NGS in 121 patients with different forms of IEIs diagnosed and managed at our centre. Our variant pick-up rate of 63.6% is much higher than previous studies- 25% by Yska et al. in 2019 and 29% by Vorsteveld et al. in 202128,36. The pick-up rate of variants in other studies were 16%7 (Gallo et al., Italy, 2016), 14% (Kojima et al., Japan, 2016)37, 2.1% (Sun et al., China in a cohort of infants)38, 28.6% (Cifaldi et al., Italy, 2020)18 and 42.4% (Arunachalam et al., India, 2020)33.

There are several reasons for a higher diagnostic yield in our study. Careful patient selection with a high pre-test probability based on clinical manifestations and preliminary immunological investigations was done. Patients with a high likelihood of having a pathogenic variant in one of 44 genes included in the gene panel are sorted out in consultation with clinicians trained in immunology and have broad experience in caring and managing patients with IEI. Currently more than 400 genes are implicated in various IEI. However, we selected 44 genes based on the most common diseases we encounter at our centre and also since we aimed to provide genetic diagnosis to maximum number of patients at an affordable cost. A large panel although more desirable would be costlier to design and in addition fewer samples would be accommodated in each run. Samples of patients who are very likely to have genetic variants in the genes included in the panel were included based on clinical history and initial immunological investigations. Patients with IEI not clearly delineated upon initial immunological investigations are referred for a clinical exome or whole-exome analysis. This analysis is outsourced to commercial laboratories providing these services at an affordable cost.

NGS has facilitated the early diagnosis of patients with IEI in situations where flow cytometry was either not conclusive or did not match the clinical presentation. For instance, patient 56 was clinically suspected of having an autosomal recessive hyper-IgM was found to have biallelic variants in the ATM gene. Hence, relying solely on typical manifestations of the IEI may not be ideal, and a rapid genetic diagnosis is indispensable39.

There have also been instances when the initial analysis on the Ion Reporter did not reveal a pathogenic variant. In patient 8 with clinically suspected XLA, no pathogenic variant was detected at initial analysis. There was a strong clinical suspicion of XLA in this case; we manually visualized the data on Integrative Genomics Viewer (IGV). We found a large deletion of exon-10, 11 and 12 in the BTK gene (Fig.2)40. Similarly, in another patient with suspected CGD (Pt.27), a large deletion was found in the CYBA gene, which was missed by the ion reporter software but was detected on manual reanalysis and visualization on the IGV. Patient 42 had an indel in IL2RG gene. In patient 42, analysis by the Ion reporter software revealed two IL2RG variants in close proximity, which was confusing. However, upon visualization of the BAM file on IGV, we realized that it was an indel (insertion of 3 nucleotides and deletion of 8 nucleotides) which was misinterpreted as two variants by the ion Reporter software.

Large deletion of Exon- 10 to 12 in BTK gene on Integrative Genome Viewer.

Hence, manual data visualization on IGV and manual analysis of annotated vcf files instead of relying on variants detected by initial analysis by software is crucial. We have been able to detect these variants in these cases using this strategy.

Detection of genetic variants in genes with known pseudogene is another problem that we encountered in our patient cohort. We faced this difficulty in patients with autosomal recessive CGD due to NCF1 gene defect. The targeted NGS panel systematically missed the most common pathogenic variant in NCF1, i.e., deletion of two nucleotides at the start of Exon-2. NCF1 gene has two flanking pseudogenes (NCF1)41. We assume that the amplicon designed for exon-2 of the NCF1 gene was unable to bind to its target, and thus, there was no amplification of this region, resulting in no reads for exon-2 in these patients. We performed a gene scan in 3 patients who had no reads in Exon-2 of the NCF1 gene to check for this variant and confirmed NCF1 GT deletion in all 3 of these patients (Fig.3A,B).

(A) IGV snapshot showing no reads from Exon-2 of NCF1 gene in 2 patients with AR-CGD (B) Gene Scan for Exon 2 NCF1 gene from control and an AR-CGD patient with no reads from exon 2 of NCF1 gene.

We have also been able to offer prenatal services to many patients. Patient 40 was clinically suspected of having SCID but had expired before a genetic defect could be established. His mother was pregnant at this time, and the period of gestation was 13weeks. We were able to identify a splice-site variant in the IL2RG gene in this family with X-linked SCID, and the mother was offered prenatal diagnosis by chorionic villous sampling. Molecular confirmation of diagnosis helped the family to get timely antenatal testing and appropriate genetic counselling. For some patients, especially SCID, rapid diagnosis through targeted NGS has saved lives, or genetic counselling has prevented an affected child in the subsequent pregnancy.

Pt 76 was the mother of a deceased child suspected to have X-linked Hyper-IgM, but a genetic diagnosis could not be established during the childs life. Targeted NGS revealed a synonymous variant in exon 1 of the CD40LG gene proximal to donor splice-site. In-silico prediction for this variant was found to be damaging by Mutation Taster2. Synonymous variants involving canonical splice-sites can also be pathogenic and should not be filtered out.

Genetic findings were beneficial in providing genetic counselling to affected families, carrier screening, and prenatal diagnosis. Moreover, genetic information is required for devising appropriate transplantation related strategies. Genetic findings were also crucial in deciding the treatment modalities in a few cases. Cases harbouring defects leading to antibody deficiencies were placed on regular replacement intravenous immunoglobulin therapy.

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Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India | Scientific Reports -...

Skin tone variation among humans. Photo courtesy of National Geographic/Sarah Leen

The DNA of all people around the world contains a record of how living populations are related to one another, and how far back those genetic relationships go. Understanding the spread of modern human populations relies on the identification of genetic markers, which are rare mutations to DNA that are passed on through generations. Different populations carry distinct markers. Once markers have been identified, they can be traced back in time to their origin the most recent common ancestor of everyone who carries the marker. Following these markers through the generations reveals a genetic tree of many diverse branches, each of which may be followed back to where they all join a common African root.

The mitochondria inside each cell are the power stations of the body; they generate the energy necessary for cellular organisms to live and function. Mitochondria have their own DNA, abbreviated mtDNA, distinct from the DNA inside the nucleus of each cell. mtDNA is the female equivalent of a surname: it passes down from mother to offspring in every generation, and the more female offspring a mother and her female descendants produce, the more common her mtDNA type will become. But surnames mutate across many generations, and so mtDNA types have changed over the millennia. A natural mutation modifying the mtDNA in the reproductive cells of one woman will from then on characterize her descendants. These two fundamentals inheritance along the mother line and occasional mutation allow geneticists to reconstruct ancient genetic prehistory from the variations in mtDNA types that occur today around the world.

Population genetics often use haplogroups, which are branches on the tree of early human migrations and genetic evolution. They are defined by genetic mutations or "markers" found in molecular testing of chromosomes and mtDNA. These markers link the members of a haplogroup back to the marker's first appearance in the group's most recent common ancestor. Haplogroups often have a geographic relation.

A synthesis of mtDNA studies concluded that an early exodus out of Africa, evidenced by the remains at Skhul and Qafzeh by 135,000 to 100,000 years ago, has not left any descendants in todays Eurasian mtDNA pool. By contrast, the successful exodus of women carrying M and N mtDNA, ancestral to all non-African mtDNA today, at around 60,000 years ago may coincide with the unprecedented low sea-levels at that time, probably opening a route across the Red Sea to Yemen. Another study of a subset of the human mtDNA sequence yielded similar results, finding that the most recent common ancestor of all the Eurasian, American, Australian, Papua New Guinean, and African lineages dates to between 73,000 and 57,000 years ago, while the average age of convergence, or coalescence time, of the three basic non-African founding haplogroups M, N, and R is 45,000 years ago.

This information has enabled scientists to develop intriguing hypotheses about when dispersals took place to different regions of the world. These hypotheses can be tested with further studies of genetics and fossils.

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Human Skin Color Variation | The Smithsonian Institution's Human ...