Category Archives: Molecular Genetics

Many of us like to think if we work hard, we'll succeed. But what if there's something we have no control over that could influence how successful we are?

Recent research suggests our genes can influence how far we go in school and how much money we make as adults.

Kathryn Paige Harden, a professor of psychology and behaviour geneticist from the University of Texas, says acknowledging "genetic luck" could be used to help create a more equitable society.

However, her book on the subject, The Genetic Lottery: Why DNA Matters for Social Equality, has caused considerable debate, with some even calling it "dangerous".

Professor Harden understands the criticism. She says the history of the genetic sciences and the "atrocious eugenic views" held by many of the field's forefathers make it a difficult field to navigate.

"There has never been a time, from Darwin on, in which the discussion of genetics or evolution or heredity in relation to humans has not been something that causes anxiety and controversy," she says.

However, she arguesit's time to "reclaim" the field and embrace the idea that, although they may not fully determine our destiny, our genes do matter.

Until the commencement of the international scientific research project, theHuman Genome Project (HGP), in 1990, there was little understanding of what humans looked like on a molecular level. This meant looking at our genetic similarities and differences was next to impossible.

By 2003, when the HGP wrapped up, researchers had successfully mapped over 90 per cent of the human genome. And in March 2022, the final pieces of the human genome puzzle were put in place.

Theoretically, there is now a set of instructions forhow to build a human being.

"Every human has in their cells 23 pairs of chromosomes, unless you have a condition like [Down syndrome], in which you've inherited an extra chromosome," Professor Harden says.

"All these chromosomes, your DNA, are made up of four DNA letters:G, C, T and A.

"Humans are more than 99 per cent genetically similar," Professor Harden says, adding that "most of what human DNA does is make a human body".

It's the remaining portion less than one per cent that differs between people that scientists like Professor Harden are interested in.

She says most studies focus on the single DNA letter differences between people known assingle-nucleotide polymorphisms orSNPs, which are the most common type of genetic variation found among people.

"I might have a T in a certain spot, and you might have a C in a certain spot," she says.

"[There can be] millions of [these genetic variants] scattered throughout your entire genome."

Around two decades ago, scientists began to look at which SNPswere associated with specific outcomes.

"[For instance] if the outcome we are interested in is height, we might say which genetic variants (SNPs) are more common in tall people versus short people," Professor Harden says.

Initially these studies focused on things like high cholesterol, macular degeneration or type 2 diabetes.

This research has helped identify genetic variants associated with an increased susceptibility to developing these conditions later in life.

But since then, the focus of these studies has shifted.

Researchers are now looking at more socially focused outcomes, such ashow far someone went in school, how much money they make and if they've ever been addicted to opiate drugs.

"A lot of people were sceptical that [this research] would work," Professor Harden says.

However, studiesshow patterns of genetic correlations that are related to these psychological behavioural outcomes.

When it comes to how well kids and adolescents do in school, Professor Harden says we already know all things aren't equal.

"We have a ton of research about that from educational and developmental psychology," she says.

We know that poverty and disadvantage outside of school impact students' educational outcomes.

But Professor Harden argues that cognitive ability is another part of the equation.

"If you have better working memory, better visual spatial reasoning [or]a stronger vocabulary, school is easier for you," she says.

Non-cognitive factors also come into it. One of those is personality, something thatProfessor Harden is veryinterested in.

"There are personality traits that might make school easier or harder," she says.

Things like impulsivity, how organised you are and how persistent you are. And these traits are at least partly shaped by our genes, she says.

The relationship between genetics and educational and economic success is complex. Professor Harden says people often try and simplify it by comparing it to a poker game.

"There's the genes or the hand you get dealt, but there's still how you play that hand," she says.

Butthe effect of genes on things like personality means this metaphor can break down.

"Our genes are also influencing how we play the hand we're dealt. It influences how motivated we are, how [much we plan], how much impulse control we have," she says.

"It makes this line between what's effort and agency and what's [genetic] luckkind of impossible to tease apart."

Professor Harden says there's a problematic lack of diversity in the research so far on this topic.

"Right now, the vast majority of information we have about the human genome comes from one narrow slice of the global population and that's people with Northern European ancestry," she says.

"The most common study is of people who self-identify as white British."

She argues that this isn't only "inequitable" but it "hurts the science".

"We're neglecting an enormous pool of genetic diversity and variety," Professor Harden says.

She believesexpanding the diversity of genetics is a great opportunity for future work in the field. But in the meantime, we're left with studies that don't necessarily apply to everyone.

Given genes are immutable, Professor Harden says a lot of people have asked why the recent studies matter so much.

She says this isbecause there is scope to intervene and make a difference.

"Just because something is genetic doesn't mean we can't intervene on it environmentally."

One example she highlights is how family therapyis used to help treat alcohol abuse problems in adolescents.

"[Genetically speaking], not every teenager is equally likely to develop an alcohol abuse problem. Some of that genetics has to do with how your body metabolises alcohol, but some of it has to do with personality," she says.

"Do you tend to like loud, rowdy friends? Do you like to go to parties wheresubstances will be on offer?"

Professor Harden says randomised controlled trials have shown that family therapy, which aims to improve parent-teenagerrelationships and communication, isan effective treatmentandhelps kids who are "most genetically at risk".

"That's because one of the pathways between their genetic risk and their addiction is through their social environment."

The possibility of making a difference is posed as a question in Professor Harden's book.

"How can public spaces, working conditions, access to medical care and legal codes and social norms be reimagined such that the arbitrariness of nature is not crystallised into an inflexible caste system?" she writes.

And some people are looking for the answers.

Professor Harden says although there's been a bit of "pushback" from fellow academics, there's also beena lot of interest from policymakers and governmental institutions

"[They] have reached out to me to say: 'We want to hear more about this'. I think a lot of people are hungry for new tools and new solutions."

This conversation between Rob Brook and Kathryn Paige Harden was originally recorded as part of UNSW Centre for Ideas and broadcast on ABC RN's Big Ideas.

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Originally posted here:
Genes may influence our successes and failures in life, according to Professor Kathryn Paige Harden - ABC News

Department:Department of Experimental BiologyFaculty of ScienceDeadline:13 Aug 2022Start date:1.9.2022 or by agreementJob type:part-timeJob field:Science and research | Education and schooling

Dean of the Faculty of Science, Masaryk University announces an open competition for the positionLecturer for Department of Experimental Biology

Workplace:Department of of Experimental Biology, Section of Genetics and Molecular Biology, Faculty of Science, Masaryk University in Brno, Czech RepublicType of Contract:temporary position with 2-year contract (with possible extension), academicWorking Hours: 0,8 FTE (part-time employment of 32 hours per week)Expected Start Date: 1.9.2022 or negotiable with respect to immigration timelines for non EU candidatesNumber of Open Positions:1Pay:CZK 34800,-per monthApplication Deadline:13.8.2022EU Researcher Profile:R2

About the Workplace

Masaryk Universityis modern, dynamic and the most attractive university in the Czech Republic with ten faculties, more than 6000 staff and 30000 students, awide range of research areas and astrong international position. We are the largest academic employer in the South Moravian Region.

Faculty of ScienceMU,a holder of theHR Excellence in Research Awardby the European Commission, is aresearch-oriented faculty, offering university education (Bachelors, Masters, and Doctoral degree programs) closely linked to both primary and applied research and high school teaching of the following sciences: Mathematics, Physics, Chemistry, Biology, and Earth sciences. We are the most productive scientific unit of the Masaryk University generating around 40 % of MU research results.

Department of Experimental Biologyat the Faculty of Science MU is amodern, fully equipped workplace where individual research groups are engaged in research at all levels -from molecules and cells to whole organisms.

Job Description

Key Duties:

Skills and Qualifications

The applicant must have:

Informalinquiries about the positioncan be sent to prof. RNDr. Ji Doka, CSc. email doskar@sci.muni.cz, telefon 549493557.

We Offer

Application Process

The application shall besubmitted online by August 13,2022 via an e-application,please find the reference to the e-application in the beginning and end of the advertisement.

The candidate shall provide following:

After submitting your application successfully, you will receive an automatic confirmation email from jobs.muni.cz.

Selection Process

Received applications will be considered carefully in line withprinciples of the EU Charter and Code for Researchers.

Selection criteria:

If we do not contact you within 10 working days after the application deadline at the latest, it means that we have shortlisted other candidates meeting the position requirements.

Shortlisted candidates will be invited for apersonal or online interview.

The Faculty Recruitment Policy (OTM-R) can be seenhere.

Faculty of Science, Masaryk University is an equal opportunity employer. We support diversity and are committed to creating an inclusive environment for all employees.Visit our Career page.

We are looking forward to hearing from you!

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Lecturer for Department of Experimental Biology job with MASARYK UNIVERSITY | 301048 - Times Higher Education

About the opportunity

The School of Life and Environmental Sciences (SOLES) is seeking to appoint a Lecturer in Biology (Education Focused) to be based at the Camperdown Campus. This is a wonderful opportunity to join the University of Sydney Australias first university at an exciting and innovative time with the development of a new strategic plan, which will build upon our outstanding global reputation of education and research excellence. SOLES brings together academics from across a broad range of disciplines to understand and solve important global challenges. Key majors include biochemistry, ecology, genetics, marine biology, microbiology, molecular biology, plant science, soil science, animal science and agriculture. This exciting new education-focused role will work closely with the First year Biology teaching team in contributing to the development and delivery of our three first year biology units.Preference may be given to applicants with experience in teaching cell, molecular and human biology. The appointee will deliver content in first year biology and developstrategies thatfoster active engagementof students to ensure excellence in teaching and learning outcomes.

The successful applicant will have a demonstrated track record in educational excellence in the development and delivery of interactive content in first year Biology and Life Science units that enriches the existing strengths and expertise within the school. The successful applicant will also have a track record in implementation of scholarly and evidence-based teaching innovations to create a safe and dynamic learning environment for students.Their track record will include evidence of success in improving the student experience and embedding of digital and other technological innovations in Biology (Life Science) teaching and learning and working effectively in an academic team.We are intent on implementing scholarly approaches to create a world-class curriculum for incoming students transitioning from school to university to enable them to thrive in their studies.

About you

The University values courage and creativity; openness and engagement; inclusion and diversity; and respect and integrity. As such, we see the importance of recruiting talent aligned to these values and are looking for anLecturer in Biology (Education Focused) who has:

To keep our community safe, please be aware of our COVID safety precautions which form our conditions of entry for all staff, students and visitors coming to campus.

Sponsorship / work rights forAustralia

Please note: Visa sponsorship is not available for this position. For a continuing position, you must be an Australian or New Zealand citizen or an Australian Permanent Resident.

Pre-employment checks

Your employment is conditional upon the completion of all role required pre-employment or background checks in terms satisfactory to the University. Similarly, your ongoing employment is conditional upon the satisfactory maintenance of all relevant clearances and background check requirements. If you do not meet these conditions, the University may take any necessary step, including the termination of your employment.

EEO statement

At the University of Sydney, our shared values include diversity and inclusion and we strive to be a place where everyone can thrive. We are committed to creating a University community which reflects the wider community that we serve. We deliver on this commitment through our people and culture programs, as well as key strategies to increase participation and support the careers of Aboriginal and Torres Strait Islander People, women, people living with a disability, people from culturally and linguistically diverse backgrounds, and those who identify as LGBTIQ. We welcome applications from candidates from all backgrounds.

How to apply

Applications (including a cover letter, CV, and any additional supporting documentation) can be submitted via the Apply button at the top of the page.

If you are a current employee of the University or a contingent worker with access to Workday, please login into your Workday account and navigate to the Career icon on your Dashboard. Click on USYD Find Jobs and apply.

For a confidential discussion about the role, or if you require reasonable adjustment or support filling out this application, please contact Simon Drew, Recruitment Operations, Human Resources at recruitment.sea@sydney.edu.au

The University of Sydney

The University reserves the right not to proceed with any appointment.

Applications Close

Sunday 07 August 2022 11:59 PM

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Lecturer in Biology (Education Focused) job with UNIVERSITY OF SYDNEY | 300815 - Times Higher Education

WHEELING Its the summer of dinosaurs, and the Ohio County Public Library in Wheeling invites patrons to learn all about the amazing prehistoric creatures in an eight-week series.

The new dinosaur series will feature paleontolgists and students of paleontology from Pittsburghs venerable Carnegie Museum of Natural History, discussing topics ranging from defining what dinosaurs actually were, to how they are related to modern birds and reptiles, to how and why they became extinct. The series will conclude with a behind-the-scenes field trip guided by the museums principal dinosaur researcher himself, Dr. Matthew Lamanna.

For inquiries and to register for the series, call the library at 304-232-0244, visit http://www.ohiocountylibrary.org, send an email, or visit the librarys reference desk.

All classes will take place on Thursday evenings. The full class schedule for Peoples University Dinosaurs at the Ohio County Public Library will be as follows:

Class 1: July 21 at 7 p.m. What is a Dinosaur?

A fun, interactive introduction into what is and isnt a dinosaur. Many people exclude things like birds from their definition of a dinosaur, but include things like crocodiles, turtles, pterosaurs, and sometimes even mammoths. This lecture would clarify misunderstandings of what makes something a dinosaur, like the fact that something doesnt have to be extinct to be a dinosaur but they do need their legs to be positioned beneath their bodies.

Class 2: July 28 at 7 p.m.

The Dinosaur Family Tree

With the definition of what dinosaurs are already established, we will explore the evolutionary history of dinosaurs, including the many different groups of dinosaurs and how they are related. Everything from ornithomimids to hadrosaurs are fair game!

Class 3: Aug. 4 at 7 p.m. Tectonics & Dinosaur Dispersal

Discover how the position of the continents changed over prehistory and how that impacts where dinosaurs are discovered today. There are species of dinosaur that are found on multiple continents, demonstrating how much closer the continents were at the time.

Class 4: Aug. 11 at 7 p.m. Dinosaur C.S.I.

Dinosaurs left more behind than just their bones and skin. They also left footprints, coprolites and other evidence of their day-to-day life.

We will examine different types of dinosaur fossils and how each informs paleontologists about dinosaur behavior, just like how crime scene investigators use physical evidence to piece together what happened.

Class 5: Aug. 18 at 7 p.m. Dinosaur Species of Jurassic Park

What do Velociraptor, Brachiosaurus, Triceratops, Dilophosaurus, and, of course, Tyrannosaurus rex have in common? They all became movie stars in the internationally popular film, Jurassic Park. Even more species like Allosaurus and Stegosaurus appeared in the movies sequels. Giganotosaurus appears in the latest installment, Jurassic World: Dominion, released this summer. But were their portrayals realistic according to the latest science? We will explore this question.

Class 6: Aug. 25 at 7 p.m. The Evolution of Flight

We will take to the air to discover how feathered dinosaurs became the progenitors of birds and unravel the avian link to dinosaur species such as Archaeopteryx and Microraptor. Well also take a look at pterosaurs.

Class 7: Sept. 1 at 7 p.m. The End of Dinosaurs and Rise of Mammals

Mammals originated at the same time as dinosaurs but remained overshadowed until the non-avian dinosaurs went extinct. What led to mammals subsequent success? Trace the rise of mammals from humble origins to charismatic megafauna, and discover some of the unique traits that have helped them thrive in changing habitats on land and at sea.

Class 8: Sept. 8 at 6 p.m. Finale Field Trip to Carnegie Museum of Natural History

Participants who attend all of the first seven classes will get preference for the field trip, as we are limited to 20 people. If more than 20 qualify, we will draw names.

Attendees will get a behind the scenes look at the Dinosaurs in Their Time exhibition at the Carnegie Museum of Natural History in Pittsburgh. Those interested will be responsible for their own transportation to and from the museum, where we will meet at 6 p.m. for the tour. It will last about 1 hour. This exhibition is home to dozens of real, original fossils displayed in scientifically accurate reconstructions of their ancient habitats.

ABOUT THE INSTRUCTORS

Lindsay Kastroll will be the instructor for Classes 1-4. She is a paleontology student and museum volunteer with a special interest in dinosaurs. Following her recent graduation from California University of Pennsylvania with degrees in biology and geology, she will be attending a masters program in Biological Sciences at the University of Alberta starting in Fall 2022 where she will complete research on ornithischian dinosaurs: think things like Triceratops, Ankylosaurus, and Stegosaurus. She got her start volunteering with the Carnegie Museum of Natural History writing Mesozoic Monthly, a series of deep dives on prehistoric creatures for the museum blog.

Taylor McCoy will instruct Classes 5-6. He is a vertebrate paleontology volunteer at the Carnegie Museum of Natural History under Dr. Matt Lamanna. His experience there includes community outreach through science communication and fossil restoration. McCoy also has field experience working with Dr. Thomas Carr in Montana, excavating and prospecting fossils from the late Cretaceous.

Dr. A. R. West will instruct Class 7. West holds a PhD in paleontology from Columbia University and a BA in organismal biology from the Univ. of Cambridge, UK. Dr. West moved to Pittsburgh to complete a postdoctoral fellowship at Carnegie Museum of Natural History in the Section of Paleontology and the Section of Mammals. They now work in the department of Biological Sciences at the University of Pittsburgh, where they teach classes on molecular genetics, evolution and science communication. West has carried out paleontology fieldwork in several different states, the UK and Antarctica.

Dr. Matthew Lamanna will serve as instructor and museum tour guide for Class 8. He is the Mary R. Dawson Associate Curator of Vertebrate Paleontology and the principal dinosaur researcher at Carnegie Museum of Natural History in Pittsburgh. He received his bachelor of science degree from Hobart College and his master of science degree and Ph.D. from the University of Pennsylvania. He has directed or co-directed field expeditions to Antarctica, Argentina, Australia, China, Croatia, Egypt and Greenland that have resulted in the discovery of numerous new species of dinosaurs and other animals from the Cretaceous Period. Lamanna served as chief scientific advisor to Carnegie Museums $36 million Dinosaurs in Their Time exhibition and has appeared on television programs for PBS (NOVA), Discovery Channel, History Channel, A&E, the Science Channel and more.

For inquiries about this new Peoples University series and to register, call the library at 304-232-0244, email the library staff or visit http://www.ohiocountylibrary.org.

The Peoples University is a free series open to the public. Guests are welcome to attend as many classes as they wish. There are no tests or other requirements.

The first 50 attendees to register and attend the first class will get a free official Peoples University Dinosaurs T-shirt, which can be found at Zazzle.com. Those people will also receive free dinosaur reference books recommended by our experts, including The Rise and Fall of the Dinosaurs: A New History of a Lost World and Dinopedia, an illustrated, pocket-friendly encyclopedia of all things dinosaurian.

Both books are complimentary for attendees, who will also receive a dinosaur tote bag.

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People's University Is All About Dinosaurs This Summer - Wheeling Intelligencer

The Miller School of Medicine Department of Radiology is working with the Universitys Institute for Data Science and Computing to design an artificial intelligence tool that could help them diagnose patients in a more individualized way.

Over the years, new technology has helped radiologists diagnose illnesses on a multitude of medical images, but it has also changed their jobs.

While in the past these physicians spent more time speaking with patients, today they spend most of the time in the reading rooma dark space where they scrutinize images alongside a patients electronic medical records and other data sourcesto diagnose an illness.

A radiologists job is often solitary. And it is a trend that University of Miami Miller School of Medicine radiologists Dr. Alex McKinney and Dr. Fernando Collado-Mesa hope to change.

The two physicians have been working with the Universitys Institute for Data Science and Computing (IDSC) to create an artificial intelligence toolbox that will draw on a massive database of deidentified data and medical images to help doctors diagnose and treat diseases based not only on imaging data but by also considering a patients unique background and circumstances. This would include risk factors, like race and ethnicity, socioeconomic and educational status, and exposure. The physicians say it is a necessary innovation at a time when narrow artificial intelligence in radiology is only able to make a binary decision such as positive or negative for one disease, rather than scanning for a host of disorders.

We believe the next iteration of artificial intelligence should be contextual in nature, which will take in all of a patients risk factors, lab data, past medical data, and will help us follow the patient, said McKinney, who is also the chair of the Department of Radiology. It will become a form of augmented interpretation to help us take care of the patient.

According to Collado-Mesa, this toolbox will not just say yes or no, disease or no disease. It will point to the data around it to consider a variety of issues for each individual patient, to put its findings into a context, including future risk.

Current artificial intelligence tools are also limited to a specific type of medical image, and cannot, for example, analyze both MRI (magnetic resonance imaging) and ultrasound at the same time. In addition, the patient data that is used in these diagnosis tools is typically not inclusive of a range of demographic groups, which can lead to a bias in care. Having a tool that draws upon the examples of millions of South Florida patients, while maintaining their privacy, will help radiologists be more efficient and comprehensive, McKinney noted.

Right now, there is just so much data for radiologists to sift through. So, this could help us as our tech-based partner, McKinney added.

All of these factors led Collado-Mesa and McKinney to try and create a better alternative, and they spoke with IDSC director Nick Tsinoremas, also a professor of biochemistry and molecular biology. Tsinoremas and IDSCs advanced computing team came up with the idea of utilizing an existing toolcalled URIDEa web-based platform that aggregates deidentified patient information for faculty researchand adding in the deidentified images from the Department of Radiology.

They hope to unveil a first version of the toolbox this summer and plan to add new elements as more imaging data is added. It will include millions of CT scans, mammograms, and ultrasound and MRI images, along with radiographs, McKinney pointed out.

We dont want to rush this because we want it to be a high-quality, robust toolbox, said Collado-Mesa, an associate professor of radiology and breast imaging, as well as chief of innovation and artificial intelligence for the Department of Radiology.

Both physicians and Tsinoremas hope that the artificial intelligence tool will help answer vital research questions, like: what risk factors lead to certain brain tumors? Or, what are the most effective treatments for breast cancer in certain demographic groups? It will also use machine learning, a technique that constantly trains computer programs how to utilize a growing database, so it can learn the best ways to diagnose certain conditions.

Creating this resource can help with diagnosis and will allow predictive modeling for certain illnesses, so that if a person has certain image characteristics and clinical information that is similar to other patients from this database, doctors could predict the progression of a disease, the efficacy of their medication, and so on, Tsinoremas said.

To ensure the toolbox will be unbiased, the team is also planning to add more images and data of all population groups in the community, as it is available, as well as to monitor the different elements constantly and systematically within the toolbox to make sure it is performing properly.

The radiologists plan to focus first on illnesses that have a high mortality or prevalence in the local population, like breast cancer, lung cancer, and prostate cancer, and to add others with time.

The technology could allow them to spend more time with patients and offer more personalized, precision-based care based on the patients genetics, age, and risk factors, according to both physicians.

Artificial Intelligence has the potential to advocate for the patients, rather than a one-size-fits-all approach to medicine based on screening guidelines, McKinney said. This could help us get away from that, and it would hopefully offer more hope for people with rare diseases.

But as data is added in the future, the researchers hope to expand their work with the tool. And they hope that physicians across the University will use it to conduct medical research, too.

This is a resource that any UM investigator could potentially access, provided that they have the approvals, and it could spark a number of different research inquiries to describe the progression of disease and how patients respond to different treatments in a given time periodthese are just some of the questions we can ask, Tsinoremas said.

More:
Radiologists hope to use AI to improve readings - University of Miami: News@theU

Key Companies Covered in the Rare Disease Genetic Testing Market Research are Quest Diagnostics Inc., Centogene N.V., Invitae Corporation, 3billion, Inc., Arup Laboratories, Eurofins Scientific, Strand Life Sciences, Ambry Genetics, Perkin Elmer, Inc., Macrogen, Inc. and other key market players.

Global Rare Disease Genetic Testing Market is valued approximately USD 0.9186 Billion in 2020 and is anticipated to grow with a healthy growth rate of more than 10.9% over the forecast period 2021-2027.

Rare Disease Genetic Testing is a test which presents the range of all the genes which are currently known to cause human disease. There are about 6000 genes which reported to be clinically relevant. These genes contains a select set of genes or gene region which are suspected to have relationship with certain diseases.

Request To Download Free Sample of This Strategic Report: https://www.quadintel.com/request-sample/rare-disease-genetic-testing-market/QI037

This lead to a rise in the number of already present genes and as a result it further increased the market growth opportunity for this sector as it allows to collect sufficient amount of data which enables to continue clinical research for future discoveries. These diseases possess a threat to the mankind and needs to be diagnosed timely and accurately. This proves to be a driving factor for the market. The lack of awareness to these conditions is a primary challenge for the market. The Misdiagnosis of the diseases can result in interventions which could later be considered inappropriate for the underlying disorder. Therefore there is an urgent need to raise awareness about the aspects of these diseases like the challenges concerning with regard to diagnosis and clinical implementation of available diagnostic ways. Along with all the above stated factors technological advancements in collection of data and interpretation for clinical practice has also driven the market. Various efforts have been made by the market players in order to collect data from different ethnicities.

The regional analysis of global Rare Disease Genetic Testing Market is considered for the key regions such as Asia Pacific, North America, Europe, Latin America and Rest of the World. North America is the leader in Genetic Testing Market with an overall share of 47% of the total market in 2019.There will be a surge in the number of patients in the coming years this will further allow the market to grow. On the other hand, Asia Pacific is expected to grow more significantly in the coming years due to the increased awareness and rising populations in the Asian countries.

The objective of the study is to define market sizes of different segments & countries in recent years and to forecast the values to the coming eight years. The report is designed to incorporate both qualitative and quantitative aspects of the industry within each of the regions and countries involved in the study. Furthermore, the report also caters the detailed information about the crucial aspects such as driving factors & challenges which will define the future growth of the market. Additionally, the report shall also incorporate available opportunities in micro markets for stakeholders to invest along with the detailed analysis of competitive landscape and product offerings of key players.

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The detailed segments and sub-segment of the market are explained below:

By Type:

Neurological DisordersImmunological DisordersHematology DiseasesEndocrine & Metabolism DiseasesCancerMusculoskeletal DisordersCardiovascular DisordersDermatology DiseasesOther Rare Diseases

By Technology:

Next Generation SequencingArray TechnologyPCR based TestingFISHSanger SequencingKaryotyping

By Specialty:

Molecular Genetic TestsChromosomal Genetic TestsBiochemical Genetic Tests

By End-use:

Research Laboratories & CROsHospitals & ClinicsDiagnostic Laboratories

By Region:North Americao U.S.o CanadaEuropeo UKo Germanyo Franceo Spaino Italyo ROE

Asia Pacifico Chinao Indiao Japano Australiao South Koreao RoAPACLatin Americao Brazilo MexicoRest of the World

Furthermore, years considered for the study are as follows:

Historical year 2018, 2019Base year 2020Forecast period 2021 to 2027

Target Audience of the Global Rare Disease Genetic Testing Market in Market Study:

Key Consulting Companies & AdvisorsLarge, medium-sized, and small enterprisesVenture capitalistsValue-Added Resellers (VARs)Third-party knowledge providersInvestment bankersInvestors

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Table of content

What is the goal of the report?

The market report presents the estimated size of the Market at the end of the forecast period. The report also examines historical and current market sizes. During the forecast period, the report analysis the growth rate, market size, and market valuation. The report presents current trends in the industry and the future potential of the North America, Asia Pacific, Europe, Latin America, and the Middle East and Africa markets. The report offers a comprehensive view of the market based on geographic scope, market segmentation, and key player financial performance.

What is the key information extracted from the report?

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Rare Disease Genetic Testing Market 2022 Emerging Trends, Comprehensive Study With Top Companies and Key Players till 2030 - Taiwan News

Ulcerative colitis, or UC, is a form of inflammatory bowel disease characterized by chronic and relapsing large intestine inflammation. Genetics account for only a minority of UC cases; hence, to develop treatments, researchers need to understand better the environmental contributions to this condition.

Gut microbes are in perpetual contact with the gastrointestinal tract, so they comprise important but poorly defined environmental variables contributing to UC development. Many studies have reported changes in gut microbiome composition in patients with UC compared to healthy individuals. While that suggests a potential role for gut microbes in UC pathogenesis, researchers have yet to pinpoint the causative microbes and associated bacterial proteins.

Dennis Wolans lab at Scripps Research is interested in identifying small-molecule activators and inhibiting bacterial enzymes involved in proliferation of human disease. Wolan said he was curious about what bacterial enzymes of the microbiome contribute to UC development.

Many publications have focused on the role of the microbiome in both health and disease states, he said. Most of these were focused on the taxonomical and phylogenic differences in the microbiome. But what about the associated bacterial proteins? What proteins are these gut bacteria making in disease conditions, and how are these interacting with the human body?

One protein of interest was serine proteases, a type of proteolytic enzyme that cleaves peptides at the serine amino acid. Researchers long have recognized that they coordinate many physiological processes and play key roles in regulating the inflammatory response. Previous studies have suggested increased proteolytic activity in microbial samples harvested from people with inflammatory disorders such as UC and Crohns disease.

Peter ThuyBuon, a graduate student and later a postdoc in the Wolan lab, led a project to study differential protein expression in healthy and UC fecal samples. He and the team described the project in a recent paper in the journal Molecular & Cellular Proteomics. In addition to standard mass spectrometry, ThuyBuon used a small molecular approach called affinity-based proteomic profiling to target and enrich for different types of proteases in the fecal samples.

We showed that there were 176 discrete host and microbial protein groups differentially enriched between healthy and UC patients, Wolan said. Furthermore, further enrichment of these proteins showed significantly higher levels of serine proteases in UC patients.

This finding has inspired exciting future research questions. For example, are elevated serine proteases the driver of UC or merely the effect of UC disease progression?

There is a lot of exciting work to be done using these findings, Wolan said. Future molecular studies should focus on how serine proteases might be contributing to UC and whether their levels can be manipulated to modify disease progression.

Functional proteomics has shown the potential role of serine proteases in UC. Future steps will include drug discovery and design of small-molecule regulators of bacterial enzymes.

Wolan said, Ultimately, the moderation of microbiome distribution in UC via external small-molecule intervention can serve as a foundation for UC prevention and treatment.

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Proteases implicated in ulcerative colitis - ASBMB Today

Last week, the University of Houston announced that its researchers have made significant improvements to a next-generation cancer therapy that kills tumour cells while leaving healthy tissues intact. The treatment uses genetically engineered or naturally occurring microbes oncolytic viruses that replicate in cancer cells and overwhelm them. The therapy also strengthens the cancer patients immune system against the tumour. However, this also means that, at times, the oncolytic viruses come up against the bodys natural defence system. At the University of Houstons Centre for Nuclear Receptors and Cell Signaling, researchers used gene editing to cancel out such an immune response, enabling the anti-cancer microbes to work with all their might. Along with the breakthrough, last month, in anti-rectal cancer treatment, advances in the use of oncolytic viruses offer hope that cancerous tumours can be eliminated without the use of surgery or debilitating chemotherapy.

Cancer has been a scourge of humankind for centuries. Advances in molecular cell biology and genetics since the second half of the 20th century have made the disease far less intractable. Early tumour detection with non-invasive imaging such as CT, MRI and PET scans has helped in discriminating between aggressive and non-malignant tumours. There is a vaccine for cervical cancer. Scientists have taken important steps to unravel the complex linkages between individual immune systems and cancerous cells. Research has also underlined connections between the disease, local environments, cultural practices, and individual habits. Such facets of the disease could have been difficult to model or quantify about two decades ago. But advances in computational methods and the ability to generate and share big data have made it easier to arrive at a more granular understanding of the disease.

Cancer accounted for nearly 10 million deaths in 2020 before the world was overtaken by the Covid pandemic, nearly one in six deaths was cancer-related. That two-thirds of all cancer deaths occur in low-and middle-income countries indicates the limited reach of this state-of-the-art research. For a large section of those who can access treatment, the high costs of modern-day healthcare often mean a devastating financial burden. Even in the US, a report of a Kaiser Family Foundation-NPR survey released last week has revealed that two-thirds of adults with health care debt who have had cancer themselves or in their family have cut spending on food, clothing, or other household basics. The Covid pandemic has re-ignited debates on making healthcare equitable and reforming practices including patent systems that lock out a large number of people from accessing healthcare. Cancer treatment should be an essential part of such conversations. Its time the groundbreaking work in research labs reaches people who suffer from the disease.

Express InvestigationThe Uber Files | The Indian Express is part of a global consortium analysing thousands of emails and documnets from Uber

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Cancer has been a scourge for centuries, advances in science have made the disease far less intractable - The Indian Express

image:Bujaruelo mountain pass view more

Credit: Will Hawkes

Scientists have identified more than 1,500 genetic differences between migratory and non-migratory hoverflies.

A team led by the University of Exeter captured migrating insects as they flew through a mountain pass, and sequenced active genes to identify which determine migratory behaviour.

This genetic information was then compared to that of non-migrating summer hoverflies.

"We identified 1,543 genes whose activity levels were different in the migrants," said lead author Toby Doyle, of the Centre for Ecology and Conservation on Exeter's Penryn Campus in Cornwall.

"What really struck us though was the remarkable range of roles these genes play.

"Migration is energetically very demanding, so finding genes for metabolism was no surprise but we also identified genes with roles in muscle structure and function, hormonal regulation of physiology, immunity, stress resistance, flight and feeding behaviour, sensory perception and for increasing longevity."

Each autumn, billions of migratory hoverflies leave northern Europe and make a long-distance journey south.

Their journey takes them through the Pyrenees where they become concentrated through high mountain passes.

"It is an amazing spectacle to witness, an endless stream of hundreds of thousands of individuals through a 30-metre pass," said Dr Karl Wotton.

When the researchers started ordering these genes by function, they discovered suites of genes were being activated in concert: insulin signalling for longevity, pathways for immunity, and those leading to octopamine production, the insect equivalent of the fight or flight hormone adrenaline, for long-distance flight.

"These pathways have been integrated into migratory hoverflies and modified by evolution to allow for long-distance movement, Dr Wotton said.

The work provides a powerful genomic resource and theoretical framework to direct future studies into the evolution of migration.

Dr Wotton added: It is an exciting time to be studying the genetics of migration.

"Our research has already indicated several genes that have previously been associated with migration in butterflies, suggesting the existence of a shared migratory gene package that controls migration across multiple animals.

The paper, published in the journal Molecular Ecology, is entitled: Genome-wide transcriptomic changes reveal the genetic pathways involved in insect migration.

Molecular Ecology

Data/statistical analysis

Animals

Genome-wide transcriptomic changes reveal the genetic pathways involved in insect migration

8-Jul-2022

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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Scientists discover key genes behind insect migrations - EurekAlert

Neuroimaging is a discipline that deals with the in vivo depiction of the structure, function and pharmacology of the central nervous system (CNS), particularly our brain, in a noninvasive manner.1, 2 The past two decades have witnessed remarkable strides in the development of new anatomical and functional imaging techniques that can shed light on many critical aspects of human brain function with respect to cognition, learning and memory. In addition to studying how the brain works and how various activities impact the brain, neuroimaging has become a powerful tool for diagnosing diseases and evaluating brain health. In this article, we will cover the basics and applications of various traditional, as well as emerging neuroimaging techniques, considering their strengths and limitations, and discuss the prospects, challenges, risks and ethics concerned with this rapidly expanding field.

Neuroimaging is a specialization of imaging science that uses various cutting-edge technologies to produce images of the brain or other parts of the CNS in a noninvasive manner. Specifically, neuroimaging can provide a range of directly or indirectly derived visual representation as well as quantitative analysis of the anatomy, blood flow, blood volume, electrical activity, metabolism, oxygen consumption, receptor sites and many other physiological functions within the CNS. Neuroimaging, often described as brain scanning, can be divided into two broad categories, namely, structural and functional neuroimaging. While structural neuroimaging is used to visualize and quantify brain structure using techniques like voxel-based morphometry,3 functional neuroimaging is used to measure brain functions (e.g., neural activity) indirectly, often using functional magnetic resonance imaging (fMRI), positron emission tomography (PET) or functional ultrasound (fUS).

Neuroimaging uses a plethora of imaging technique to study how the brain functions, and shed light on the mechanisms underlying cognition, information processing or changes of the brain in the pathological state. Neuroradiology, on the other hand, is a medical specialism using brain imaging in the clinical setting. It primarily focuses on the identification of brain lesions, such as vascular malformations, strokes, tumors and inflammatory diseases. Compared to neuroimaging, neuroradiology is more qualitative, relying on subjective impressions and extensive clinical training, though basic quantitative techniques may be used in certain instances. Functional brain imaging techniques, such as fMRI, are common in neuroimaging but seldom used in neuroradiology. Although neuroimaging was previously considered to be the domain of radiologists with a specific interest in the nervous system, this rapidly evolving field is now populated with contributors from diverse backgrounds including neuroscience, molecular biology, genetics, neurology, neurosurgery, psychology, psychiatry, physics, chemistry, radiology and nuclear medicine.

Understanding the human mind has been one of the primary intents of philosophers throughout the ages. Questions about how our mind represents and manipulates knowledge, and how the brain realizes these mental representations and process, have attracted psychologists, computer scientists, philosophers, sociologists and like-minded researchers into a new discipline, called cognitive science. In this context, the emergence of advanced, functional neuroimaging techniques has expanded our ability to study the neural basis of cognitive processes.

Although the past two decades have witnessed phenomenal enthusiasm in human brain mapping, the foundation stone of neuroimaging was laid in the early 1900s. In 1880, the Italian physicist Angelo Mosso invented a noninvasive technique that was able to measure the redistribution of blood during emotional and intellectual activity.4 This method, known as human circulation balance, is thought to be the first-ever neuroimaging technique.5

In 1918, the American neurosurgeon, Walter Dandy, introduced the ventriculography technique that was used to obtain images of the ventricular system within the brain by injecting filtered air directly into one or both lateral ventricles of the brain.6 This procedure was not painful, but it carried significant risks to the patient under investigation, leading to hemorrhage, infection and dangerous changes in intracranial pressure. Nevertheless, the surgical information provided by this method was extremely precise and accurate. Dandy also found that in many of the ventriculograms, air passing out of the ventricular channels could be detected in the cerebrospinal fluid compartments around the base of the brain and over its surface. This observation led him to conclude that air had followed the same, normal pathways through which the cerebrospinal fluid circulates. Subsequently, he withdrew cerebrospinal fluid from the subarachnoid space, replacing it with equivalent amounts of air. Because air is more permeable to X-rays than bones, this strategy enabled better visualization on an X-ray. This technique, named pneumoencephalography,7 extended the scope for precise intracranial diagnosis, though it posed the same risks to patients as observed earlier in the case of ventriculography, and was generally unpleasant and painful.

In 1927, Egas Moniz, a Portuguese neurologist, who was also the Nobel Prize recipient in Physiology or Medicine 1949, introduced cerebral angiography, a technique that was used to visualize both normal and abnormal blood vessels in and around the brain with great accuracy and precision.8 In its early days, cerebral angiography posed immediate and long-term risks, many of which stemmed from the deleterious effects of intravenously injected positive contrast substances. However, with technological advancement over decades and the development of new, safer contrast agents, this imaging modality has been substantially refined. Subsequently, cerebral angiography remains the mainstay of a neurosurgeons diagnostic imaging and therapeutic armory in the neuro-interventional management of a range of brain diseases and disorders.

In the latter half of the twentieth century, the advent of the computerized axial tomography (CAT or CT scanning) paved the way to safer, painless and more detailed anatomical brain imaging. Three names that are associated with the development of this technique include Dr. Willian Oldendorf, Godfrey Newbold Hounsfield and Allan McLeod Cormack.9, 10

Soon after the invention of CAT, the development of radioligands led to the foundation of nuclear imaging modalities, namely, single-photon emission computed tomography (SPECT) and PET. Radioligands are either single photon or positron emitters, which can be tailor-made to either remain within the blood stream or enter the brain and bind to their target receptors.

In 1973, Edward J. Hoffman, and Michael Phelps developed the first human PET scanner.11 Previously, techniques like xenon inhalation were the mainstay of cerebral blood flow mapping.12 The development of oxygen-15 labeled water (15O-H20) facilitated the measurement of regional blood flow within the brain using PET.13 Functional imaging took a leap forward with the development of 2-[18F] fluoro-2-deoxy-d-glucose (18F-FDG), a positron-emitting sugar derivative that accumulates in the brain according to local metabolic activity.14 This radioligand allowed investigators to measure regional cerebral glucose consumption using FDG-PET, and was used to detect metabolically active brain lesions, neural injury or synaptic disfunction. Unlike oxygen-15, which has a short half-life of 2.25 minutes, the 110-minute half-life ofFDG allowed PET scans by machines remote from the cyclotron producing the isotope.

Almost concomitantly, magnetic resonance imaging (MRI) was developed. The names associated with early developments of this technique include J. A. Jackson(1968), Raymond Damadian (1972) and Paul Lauterbur (1973).15, 16 Initially, the application of MRI was limited to structural imaging, although technical refinements during the 1980s gradually expanded its scope to diagnostic imaging of brain pathology.

Since the 1990s, fMRI has become the cornerstone of neuroimaging research due to its lack of radiation hazards, low invasiveness and relatively wide availability.17 fMRI measures brain activity by detecting associated changes in cerebral blood flow (CBF), cerebral blood volume (CBV) and cerebral metabolic rate of oxygen consumption (CMRO2).18

Over time, physicists have developed magnetic resonance spectroscopy (MRS), for measuring certain key metabolites within the living brain such as N-acetyl aspartate and lactate.19 Similarly, diffusion tensor imaging (DTI),20 another MRI-based technique, uses anisotropic diffusion21 to map white matter tracts within the living brain.

More recently, the combination of fMRI with PET, CT and SPECT has paved the way to multimodal neuroimaging, which combines data derived from the different imaging modalities to obtain more detailed information about brain dynamics.22

Modern neuroimaging uses an array of technologies to illuminate our brain, lets consider some of these in more detail.

CT refers to a noninvasive, diagnostic imaging procedure that uses special X-ray measurements to produce horizontal, or axial, images of the brain as well as other parts of the body.23 During a brain CT, the X-ray beam moves around the body in a circle to capture various 2D images of an individuals brain from multiple angles (Figure 1). The X-ray information is then sent to a computer, which process the data using reconstruction algorithms to generate tomographic (cross-sectional) images of the brain (Figure 2).

Brain CT scans may be performed with or without contrast agents a class of substances capable of enhancing the visibility of tissues, structures or pathology. The most common contrast agents used in CT imaging are barium- and iodine-based.

A CT of the brain is typically used to evaluate the brain for tumors and other lesions, injuries, intracranial bleeding, hydrocephalus, stroke, vascular dementia, infection, inflammation and many other conditions. CT scans can also offer image-based guidance for brain surgery or biopsies of brain tissue.

Figure 2: CT angiography of vascular malformation in a patient with intraventricular hemorrhage. Credit: Shazia Mirza and Sankalp Gokhale, reproduced under the Creative Commons Attribution 4.0 International license.

Strengths:

Limitations:

In SPECT imaging, a gamma-emitting radiotracer (such as technetium-99m, iodine-123 or iodine-131) is artificially introduced into a biologically relevant molecule (typically a ligand, peptide or antibody) and administered intravenously into an animal or patient.24 Following injection into the bloodstream, the bio-distribution and uptake of the radiotracer in different organs and tissues is quantified over time to obtain information about a physiological, cellular or molecular process of interest. During SPECT imaging, one or more gamma cameras rotate around the patient, which enables radiation to be captured from different angles and produces multiple 2D images. Thereafter, a computer is used to apply a tomographic reconstructionalgorithm to these multiple projections, generating a 3D image.

As far as neuroimaging is concerned, SPECT is primarily used for the quantification of changes in CBF and neurotransmitter systems. Brain SPECT can be used to evaluate and manage a wide range of clinical conditions including head injuries, malignant brain tumors, cerebrovascular disorders, Parkinsons disease, dementia and epilepsy25, 26 (Figure 3). Typically, functional brain SPECT imaging is accomplished using Technitium (99mTc) exametazime, a gamma-emitting radiotracer whose uptake by brain tissues is proportional to CBF. Because CBF is tightly coupled to local metabolism and energy consumption, a 99mTc-exametazime tracer can be used to evaluate brain metabolism regionally.

Strengths:

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PET is an extremely powerful nuclear medicine imaging modality that uses radiotracers to visualize and quantify changes in metabolic processes.27 In PET, biochemically active molecules are labeled with short-lived positron-emitting radiotracers and injected into patients. As positrons encounter electrons within the tissues, they are annihilated resulting in a pair of 511 keV photons. These photons are measured by the detectors of the PET scanner, and eventually reconstructed to produce an image map of the organ or tissue under investigation. The amount of radiotracer accumulated in the region of interest is directly proportional to the signal intensity of that area and is indicative of the level of organ or tissue function. The choice of tracers in PET imaging depends on the intended target and applications.

In neuroimaging, 18F-FDG PET can be used for:

Several other PET tracers beyond 18F-FDG have shown promise for elucidating the pharmacology, neurochemistry and pathology of the living human brain. For instance,15O-H2O PET allows quantification of regional CBF, whereas [18F] fluorothymidine(FLT) serves as an in vivo marker of cell proliferation.31 More recently, development of new amyloid imaging tracers, such as Pittsburgh compound B, [18F] Florbetapir and [18F] Florbetaben has enabled the in vivo detection and quantification of brain A plaque burden- a hallmark of AD.32

Figure 4: T1-weighted gadolinium-enhanced MRI (left) and18F-FDG PET (right) of a 79-year-old man with right frontal glioblastoma. Credit: Verger A and Langen KJ. Adapted from 33, reproduced under the Creative Commons Attribution 4.0 International license.

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MRI refers to a noninvasive, radiation-free and safe imaging modality that relies on the magnetization property of atomic nuclei.16 Water molecules form a major portion of all living bodies, each having two hydrogen nuclei or protons. When a patient is sent inside the powerful magnet of an MRI scanner, these protons start to align themselves with the direction of the magnetic field. This alignment is next perturbed by pulsing a radiofrequency (RF) current through the patient. After the RF field is turned off, the nuclei return to their resting alignment through various relaxation process, and while doing so, they emit RF energy. The energy released in the process is detected by the MRI sensors. Relaxation involves two different mechanism i) T1 relaxation, also known as longitudinal or spin-lattice relaxation and ii) T2 relaxation, also known as transverse or spin-spin relaxation. The time constant, T1 is a measure of the time taken by the excited protons to return to equilibrium and realign with the external magnetic field. T2 is a measure of the time taken for the spinning protons to lose phase coherence among the nuclei spinning perpendicular to the main field (Figure 5).

Depending on their cellular and molecular characteristics, different tissues have different T1 and T2 relaxation times, which forms the basis of image contrast (signal-to-noise ratio). During image acquisition, the receiver coils are placed around the body part under examination to enhance the detection of the emitted signal. The intensity of the received signal is plotted on a grey scale to produce cross-sectional images. MRI contrast agents have become an indispensable component of contemporary MRI studies. They work by altering the T1 and T2 relaxation rates of various tissues, leading to increased signal intensity on T1-weignted images or decreased signal intensity on T2-weighted images or both. Common T1 agents for MRI include gadolinium (Gd3+)-based paramagnetic complexes, whereas T2 agents include superparamagnetic iron oxide nanoparticles (SPION).

MRI is widely used by physicians to assess a variety of conditions such as internal hemorrhage, swelling, brain developmental disorders, tumors, infections, inflammation, damage resulting from an injury or stroke, vascular abnormalities and causes of seizures and headaches.

Figure 5: Diagram depicting the physics of MRI: how hydrogen protons behave in a magnetic field. (A) All living bodies are made up of water molecules, constituting two hydrogen atoms and one oxygen atom. Each hydrogen nucleus contains one positive charge i.e., a proton spinning around on its axis behaving like a tiny magnet. (B) When a person goes inside the MRI scanner, the randomly oriented protons inside the water molecules of their body align themselves with the direction of the main static magnetic field, B0. Some of these protons will align up or parallel whereas others will align down or antiparallel, while still rotating around their axis like a spinning top. (C) When an RF wave/pulse with the same frequency as the protons precessional frequency is turned on, the protons aligned upwards flip away from the B0 field while absorbing the RF energy.

Strengths:

Limitations:

In recent years, fMRI has become the cornerstone of neuroimaging research. This technique, primarily based on the blood oxygenation level dependent (BOLD) contrast, is sensitive to the localized hemodynamic changes associated with increased neuronal activity (Figure 6).18, 34 fMRI is extensively used for the noninvasive mapping of brain activity evoked from sensory, motor, cognitive and emotional tasks in healthy individuals. Currently, this technique has proven its value clinically in neurosurgical planning and in strengthening our understanding of neurobehavioral disorders including AD, epilepsy, brain tumors, stroke, traumatic brain injury and multiple sclerosis.

Figure 6:Illustration of how BOLD fMRI signals are generated. (A) BOLD-fMRI employs hemoglobin (Hb) as an endogenous contrast agent and relies on the magnetic susceptibility differences between oxy-and deoxyhemoglobin (dHb) to generate functional contrast. When neuronal activity increases in a certain brain area, it consumes more oxygen and glucose. The metabolic demand for oxygen triggers a local increase in blood flow. Active regions of the brain receive more oxygenated blood than less active regions. dHb is paramagnetic whereas Hb is diamagnetic. This difference in magnetic susceptibility leads to small differences in the MRI signal intensity, which in turn, depends on the degree of oxygenation and is known as BOLD signal. Since blood oxygenation differs according to the levels of neural activity, these differences can be used to measure brain activity. (B) A representative fMRI image with orange areas showing increased brain activity compared to other (control) areas of the brain. Credit: Washington irving, reproduced as a public domain image.

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Limitations:

Diffuse optical imaging (DOI) and diffuse optical tomography (DOT) are noninvasive techniques that can produce the spectral image of an object located several centimeters underneath the biological tissue by utilizing light in the near infrared (NIR) spectral region.35, 36 To enable visualization using DOI or DOT, the object must be translucent or at least semi-translucent. The illumination and detection are handled by employing an array of light sources and detectors respectively around the object under investigation (Figure 7). By observing spatiotemporal variations in the light absorption and scattering properties of the tissue, regional variations in oxy- and deoxy-hemoglobin concentration can be imaged. Model-based reconstruction algorithms can be applied on the acquired data to obtain spatial maps of tissue properties such as total hemoglobin concentration, blood oxygen saturation and scattering. Functional NIR spectroscopy (NIRS) using DOT can be effectively used to measure the hemodynamic changes following neuronal activation, which, in turn, can provide valuable information on the neurophysiology of human brain.

Figure 7:Images showing how DOI and DOT imaging work.(A) A representative image showing optical fibers on the boundary of the frontal cortex in a real space. As the photon trajectory follows a banana path (represented by arrows), measurements at 10-20 mm distance from the source can deliver information from the extracerebral layers. Measurements at 30-40 mm from the source can afford information from intracerebral layers too. Here, the source-detector pairs are separated by 1 cm in both frontal and sagittal views. The matrix comprises a total of 64 optical fibers, offering 2048 optical channels due to colocalization. (B) Optical fiberscalp coupling is ensured by using a rigid structure that holds the tip of the optical fibers in place. Credit: Hernandez-Martin E, Luis Gonzalez-Mora J. Adapted from 37, reproduced under the Creative Commons Attribution 4.0 International license.

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Event-related optical signal (EROS) is an emerging, relatively inexpensive and noninvasive neuroimagingtechnique that uses infrared lightthrough optical fibersto determine changes in optical properties of active areas in the cerebral cortex.38 While DOI or NIRS measure optical absorption of hemoglobin, and are thus dependent on CBF, EROS takes advantage of the scattering properties of the neurons themselves, providing a much more direct measure of cellular activity.

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Limitations:

Magnetoencephalography (MEG) is a noninvasive, radiation-free and safe imaging modality that detects, records and analyzesthe magnetic fields generated by electric currents in the brain resulting from synchronous neuronal activation (Figure 8).39 The magnetic field measurements range from femto- to pico-tesla. The information obtained from MEG assessments have wide applications, including finding the source of epilepsy, sensory mapping, identification of brain signatures associated with autism and helping researchers determine the function of various parts of the brain.

Strengths:

Limitations:

This neuroimaging modality employs high-frequency sound waves to acquire images of the brain and its inner fluid chambers (ventricles). It is primarily used in babies because theirfontanellei.e., the soft spot on their skull, offers an "acoustic window". This test is used to diagnose and follow-up problems of premature and sick neonates (Figure 9).40

Strengths:

Limitations:

fUS is an ultrasound-based noninvasive imaging modality that detects changes in neural activities or metabolism by measuring blood flow or hemodynamic changes.42 The method can be considered an extension of Doppler imaging, an ultrasound (US)-based imaging technique that bounces high frequency sound waves off circulating red blood cells to estimate the blood flow through blood vessels. Conventional US has low sensitivity, which restricts its potential for microangiography or functional imaging. The fUS method employs a new sequence for power Doppler imaging that is sensitive enough to detect subtle variations of CBF or CBV in extremely small vessels.

In preclinical research, fUS has become an appealing technology for the interrogation of neuronal circuits through functional connectivity analysis. Additionally, it can be used to map the brains response to external stimuli, study the effects of pharmacological interventions on the brain and visualize neurovascular structures in detail. Clinically, fUS has shown promise for detecting brain disorders in human neonates and in pre-operative surgical planning (Figure 10).

Strengths:

Limitations:

Quantum optically-pumped magnetometers (OPMs) can measure very weak magnetic fields of femto-tesla sensitivity without employing cryogenic cooling. Each of the array sensors can be flexibly placed within millimeters of the patients scalp, which reduces the source-to-sensor distance while maximizing the signal strength.44 OPM-MEG shows great potential for functional brain mapping and detecting the exact source of epileptic seizures.

Strengths:

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Electroencephalography (EEG) is an advanced neuroimaging technique that records the electrical signals of the brain by using small electrodes placed along the scalp of the subject.45 More specifically, the electrodes detect the tiny voltage fluctuations resulting from neuronal activity, showing up in EEG recording as wavy lines (Figure 11). While EEG is usually noninvasive, electrocorticography or intracranial EEG involves invasive electrodes and records electrical potentials associated with brain activity directly from the cerebral cortex. EEG is commonly used for the diagnosis of epilepsy, sleep disorders, brain tumor, stroke and encephalitis, and to determine the depth of anesthesia, coma and brain death.

Figure 11: Diagram showing how an electroencephalogram may be recorded. Electrical activity is measured on the scalp using electrodes fixed on an EEG cap (left). For each electrode, the signals are amplified and mapped (right) and can be used in successive steps for any desired processing.

Strengths:

Limitations:

The advent of CT, MRI, PET and other cutting-edge techniques have revolutionized the field of neuroimaging. Although most of these techniques eliminate the risk of invasive procedures, other potential risks need to be considered before ordering neuroimaging. For instance, advanced neuroimaging using CT and PET may pose a risk of significant radiation exposure. The use of contrast in CT may be deleterious to patients with pre-existing renal failure. Although MR is free from radiation hazards, it is associated with risks pertinent to the static magnetic field, magnetic field gradients and contrast media. Finally, ethical problems caused by brain research have fostered the emergence of neuroethics, a new discipline studying the ethical, legal and societal implications of neuroscience.47 Recent advances in our ability to understand the brain and modulate brain function can impact an individuals sense of privacy, autonomy, identity and psychiatric concepts of mental health and illness. Consequently, the potential benefits of applying neuroimaging and neurotechnologies to mentally ill as well as healthy persons need to be carefully weighed against their potential damage.

References

1. Fulham M. Neuroimaging. In: Squire LR, ed. Encyclopedia of Neuroscience. Oxford: Academic Press. 2004:459-469. doi:10.1016/B978-008045046-9.00309-0

2. Klppel S, Abdulkadir A, Jack Jr CR, Koutsouleris N, Mouro-Miranda J, Vemuri P. Diagnostic neuroimaging across diseases. Neuroimage. 2012;61(2):457-463. doi:10.1016/j.neuroimage.2011.11.002

3. Mechelli A, Price CJ, Friston KJ, Ashburner J. Voxel-based morphometry of the human brain: methods and applications. Curr. Med. Imaging. 2005;1(2):105-113. doi:10.2174/1573405054038726

4. Sandrone S, Bacigaluppi M, Galloni MR, Martino G. Angelo Mosso (18461910). J. Neurol. 2012;259(11):2513-2514. doi:10.1007/s00415-012-6632-1

5. Sandrone S, Bacigaluppi M, Galloni MR, et al. Weighing brain activity with the balance: Angelo Mossos original manuscripts come to light. Brain. 2014;137(2):621-633. doi:10.1093/brain/awt091

6. Kilgore EJ, Elster AD. Walter Dandy and the history of ventriculography. Radiology. 1995;194(3):657-660. doi:10.1148/radiology.194.3.7862959

7. Moseley I. Pneumoencephalography. In: Du Boulay GH ed. A textbook of radiological diagnosis. United States: WB Saunders Co.1984. 226-254. ISBN:0-7216-1523-6

8. Doby T. Cerebral angiography and Egas moniz. AJR Am J Roentgenol. 1992;159(2):364. doi:10.3389/fnana.2017.00081

9. Mishra SK, Singh P. History of neuroimaging: the legacy of William Oldendorf. J. Child Neurol. 2010;25(4):508-517. doi:10.1177/0883073809359083

10. Di Chiro G, Brooks RA. The 1979 Nobel prize in physiology or medicine. Science. 1979;206(4422):1060-1062. doi:10.1126/science.386516

11. Portnow LH, Vaillancourt DE, Okun MS. The history of cerebral PET scanning: from physiology to cutting-edge technology. Neurology. 2013;80(10):952-956. doi:10.1212/wnl.0b013e318285c135

12. Frietsch T, Bogdanski R, Blobner M, Werner C, Kuschinsky W, Waschke KF. Effects of xenon on cerebral blood flow and cerebral glucose utilization in rats. Anesthesiology. 2001;94(2):290-297. doi:10.1097/00000542-200102000-00019

13. Hichwa RD, Ponto LLB, Watkins GL. Clinical blood flow measurement with [15O] water and positron emission tomography (PET). In: Emran, A.M. ed. Chemists Views of Imaging Centers. Boston, MA: Springer 1995:401-417. doi:10.1007/978-1-4757-9670-4_44

14. Ak I, Stokkel MP, Pauwels EK. Positron emission tomography with 2-[18F] fluoro-2-deoxy-D-glucose in oncology. J. Cancer Res. Clin. Oncol. 2000;126(10):560-574. doi:10.1007/PL00008466

15. Edelman RR. The history of MR imaging as seen through the pages of radiology. Radiology. 2014;273(2S):S181-S200. doi:10.1148/radiol.14140706

16. Plewes DB, Kucharczyk W. Physics of MRI: a primer. J. Magn. Reson. Imag. 2012;35(5):1038-1054. doi:10.1002/jmri.23642

17. Bandettini PA. Twenty years of functional MRI: the science and the stories. Neuroimage. 2012;62(2):575-588. doi:10.1016/j.neuroimage.2012.04.026

18. Logothetis NK. What we can do and what we cannot do with fMRI. Nature. 2008;453(7197):869-878. doi:10.1038/nature06976

19. Mitra S, Kendall GS, Bainbridge A, et al. Proton magnetic resonance spectroscopy lactate/N-acetylaspartate within 2 weeks of birth accurately predicts 2-year motor, cognitive and language outcomes in neonatal encephalopathy after therapeutic hypothermia. Arch, Dis. Child.Fetal Neonatal Ed. 2019;104(4):F424-F432. doi:10.1136/archdischild-2018-315478

20. Lope-Piedrafita S. Diffusion tensor imaging (DTI). Preclin. MRI. 2018:103-116. doi:10.1007/978-1-4939-7531-0_7

21. Perona P, Shiota T, Malik J. Anisotropic diffusion. In: ter Haar Romeny, BM ed. Geometry-Driven Diffusion in Computer Vision. vol 1. Dordrecht: Springer; 1994:73-92. doi:10.1007/978-94-017-1699-4_3

22. Uluda K, Roebroeck A. General overview on the merits of multimodal neuroimaging data fusion. Neuroimage. 2014;102:3-10. doi:10.1016/j.neuroimage.2014.05.018

23. Withers PJ, Bouman C, Carmignato S, et al. X-ray computed tomography. Nat Rev Methods Primers. 2021;1(1):1-21. doi:10.1038/s43586-021-00015-4

24. Kim J-B. Principle and application of SPECT. International Atomic Energy Agency, https://inis.iaea.org/collection/NCLCollectionStore/_Public/46/130/46130353.pdf. Published 2014, Accessed July 6, 2022

25. Son S-J, Kim M, Park H. Imaging analysis of Parkinsons disease patients using SPECT and tractography. Sci. Rep. 2016;6(1):1-11. doi:10.1038/srep38070

26. Horky LL, Treves ST. PET and SPECT in brain tumors and epilepsy. Neurosurg. Clin. N. Am. 2011;22(2):169-184. doi:10.1016/j.nec.2010.12.003

27. Muehllehner G, Karp JS. Positron emission tomography. Phys. Med. Biol. 2006;51(13):R117. doi:10.1088/0031-9155/51/13/r08

28. Herholz K. FDG PET and differential diagnosis of dementia. Alzheimer Dis. Assoc. Disord. 1995. doi:10.1097/00002093-199505000-00004

29. Sarikaya I. PET studies in epilepsy. Am. J. Nucl. Med. Mol. Imaging. 2015;5(5):416. PMID:26550535

30. Malmgren K, Thom M. Hippocampal sclerosisorigins and imaging. Epilepsia. 2012;53:19-33. doi:10.1111/j.1528-1167.2012.03610.x

31. Been LB, Suurmeijer AJ, Cobben DC, Jager PL, Hoekstra HJ, Elsinga PH. [18F] FLT-PET in oncology: current status and opportunities. Eur. J. Nucl. Med. Mol. Imaging. 2004;31(12):1659-1672. doi:10.1007/s00259-004-1687-6

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