Neuroscience

Artificial Intelligence to Assess Dementia Risk and Enhance the Effectiveness of Depression Treatments – Neuroscience News

Summary: Using MEG data, a new AI algorithm called AI-MIND is able to assess dementia risk and the potential effectiveness of treatments for depression, researchers say.

Source: Aalto University

The human brain consists of some 86 billion neurons, nerve cells that process and convey information through electrical nerve impulses.

Thats why measuring neural electrical activity is often the best way to study the brain, says Hanna Renvall. She is Aalto University and HUS Helsinki University Hospital Assistant Professor in Translational Brain Imaging and heads the HUS BioMag Laboratory.

Electroencephalography, or EEG, is the most used brain imaging technique in the world. Renvalls favorite, however, is magnetoencephalography or MEG, which measures the magnetic fields generated by the brains electrical activity.

MEG signals are easier to interpret than EEG because the skull and other tissues dont distort magnetic fields as much. This is precisely what makes the technique so great, Renvall explains.

MEG can locate the active part of the brain with much greater accuracy, at times achieving millimeter-scale precision.

An MEG device looks a lot like bonnet hairdryers found in hair salons. The SQUID sensors that perform the measurements are concealed and effectively insulated inside the bonnet because they only function at truly freezing temperatures, close to absolute zero.

The worlds first whole-head MEG device was built by a company that emerged from Helsinki University of Technologys Low Temperature Laboratoryand is now the leading equipment manufacturer in this field.

MEG plays a major role in the European Unions new AI-Mind project, whose Finnish contributors are Aalto and HUS. The goal of the 14-million project is to learn ways to identify those patients, whose dementia could be delayed or even prevented.

For this to happen, neuroscience and neurotechnology need help from artificial intelligence experts.

Fingerprinting the brain

Dementia is a broad-reaching neural function disorder that significantly erodes the sufferers ability to cope with everyday life. Some 10 million people are afflicted in Europe, and as the population ages this number is growing. The most common illness that causes dementia is Alzheimers disease, which is diagnosed in 7080% of dementia patients.

Researchers believe that communication between neurons begins to deteriorate well before the initial clinical symptoms of dementia present themselves. This can be seen in MEG dataif you know what to look for.

MEG is at its strongest when measuring the brains response to stimuli like speech and touch that occur at specific moments and are repetitive.

Interpreting resting-state measurements is considerably more complex.

Thats why the AI-Mind project uses a tool referred to as the fingerprint of the brain. It was created when Renvall and Professor Riitta Salmelin and her colleagues began to investigate whether MEG measurements could detect a persons genotype.

More than 100 sibling pairs took part in the study that sat subjects in an MEG, first for a couple of minutes with their eyes closed and then for a couple of minutes with their eyes open. They also submitted blood samples for a simple genetic analysis.

When researchers compared the graphs and genetic markers, they noticed that, even though there was substantial variance between individuals, siblings graphs were similar.

Next, Aalto University Artificial Intelligence Professor Samuel Kaskis group tested whether a computer could learn to identify graph sections that were as similar as possible between siblings while also being maximally different when compared to other test subjects.

The machine did itand more, surprisingly.

It learned to distinguish the individual perfectly based on just the graphs, irrespective of whether the imaging had been performed with the test subjects eyes open or closed, Hanna Renvall says.

For humans, graphs taken with eyes closed or open look very different, but the machine could identify their individual features. Were extremely excited about this brain fingerprinting and are now thinking about how we could teach the machine to recognize neural network deterioration in a similar manner.

Risk screening in one week

A large share of dementia patients are diagnosed only after the disorder has already progressed, which explains why treatments tend to focus on managing late-stage symptoms.

Earlier research has, however, demonstrated that many patients experience cognitive deterioration, such as memory and thought disorders, for years before their diagnosis.

One objective of the AI-Mind project is to learn ways to screen individuals with a significantly higher risk of developing memory disorders in the next few years from the larger group of those suffering from mild cognitive deterioration.

Researchers plan to image 1,000 people from around Europe who are deemed at risk of developing memory disorders and analyze how their neural signals differ from people free from cognitive deterioration. AI will then couple their brain imaging data with cognitive test results and genetic biomarkers.

Researchers believe this method could identify a heightened dementia risk in as little as a week.

If people know about their risk in time, it can have a dramatic motivating effect, says Renvall, who has years of experience of treating patients as a neurologist.

Lifestyle changes like a healthier diet, exercise, treating cardiovascular diseases and cognitive rehabilitation can significantly slow the progression of memory disorders.

Better managing risk factors can give the patient many more good years, which is tremendously meaningful for individuals, their loved ones and society, as well, Renvall says.

Identifying at-risk individuals will also be key when the first drugs that slow disease progression come on the market, perhaps in the next few years. Renvall says it will be a momentous event, as the medicinal treatment of memory disorders has not seen any substantial progress in the last two decades.

The new pharmaceuticals will not suit everybody, however.

These drugs are quite powerful, as are their side effectsthats why we need to identify the people who can benefit from them the most, Renvall emphasizes.

Zapping the brain

Brain activity involves electric currents, which generate magnetic fields that can be measured from outside the skull.

The process also works in the other direction, the principle on whichtranscranial magnetic stimulation(TMS) is based. In TMS treatments, a coil is placed on the head to produce a powerful magnetic field that reaches the brain through skin and bone, without losing strength. Themagnetic fieldpulse causes a short, weak electric field in the brain that affects neuron activity.

It sounds wild, but its completely safe, says Professor of Applied Physics Risto Ilmoniemi, who has been developing and using TMS for decades.

The strength of the electric field is comparable to the brains own electric fields. The patient feels the stimulation, which is delivered in pulses, as light taps on their skin.

Magnetic stimulation is used to treatsevere depressionand neuropathic pain. At least 200 million people around the world suffer from severe depression, while neuropathic pain is prevalent among spinal injury patients, diabetics and multiple sclerosis sufferers. Pharmaceuticals provide adequate relief to only half of all depression patients; this share is just 30% in the case of neuropathic pain sufferers.

How frequently pulses are given is based on the illness being treated. For depression, inter-neuron communication is stimulated with high-frequency pulse series, while less frequent pulses calm patients neurons for neuropathic pain relief.

Stimulation is administered to the part of the brain where, according to the latest medical science, the neurons tied to the illness being treated are located.

About half of treated patients receive significant relief from magnetic stimulation. Ilmoniemi believes this could be much higherwith more coils and the help of algorithms.

One-note clanger to concert virtuoso

In 2018, the ConnectToBrain research project headed by Ilmoniemi was granted 10 million in European Research Council Synergy funding, the first time that synergy funds were awarded to a project steered by a Finnish university. Top experts in the field from Germany and Italy are also involved.

The goal of the project is to radically improve magnetic stimulation in two ways: by building a magnetic stimulation device with up to 50 coils and by developing algorithms to automatically control the stimulation in real time, based on EEG feedback.

Ilmoniemi looks to the world of music for a comparison.

The difference between the new technology and the old is analogous to a concert pianist playing two-handed, continuously fine-tuning their performance based on what they hear, rather than hitting a single key while wearing hearing protection.

Researchers have already used a two-coil device to demonstrate that an algorithm can steer stimulation in the right direction ten times faster than even the most experienced expert. This is just the beginning.

A five-coil device completed last year covers an area of ten square centimeters of cortex at a time. A 50-coil system would cover both cerebral hemispheres.

Building this kind of device involves many technical challenges. Getting all these coils to fit around the head is no easy task, nor is safely producing the strong currents required.

Even once these issues are resolved, the hardest question remains: how can we treat the brain in the best possible way?

What kind of information does the algorithm need? What data should instruct its learning? It is an enormous challenge for us and our collaborators, Ilmoniemi says thoughtfully.

The project aims to build one magnetic stimulation device for Aalto, another for the University of Tbingen in Germany and a third for the University of Chieti-Pescara in Italy. The researchers hope that, in the future, there will be thousands of such devices in operation around the world.

The more patient data is accumulated, the better the algorithms can learn and the more effective the treatments will become.

Quantum optics sensors could revolutionize how we read neural signals

Professor Lauri Parkkonens working group is developing a new kind of MEG device that adapts to the head size and shape and utilizes sensors based onquantum optics. Unlike the SQUID sensors currently employed in MEG, they do not need to be encased in a thick layer of insulation, enabling measurements to be taken closer to the scalp surface. This makes it easier to perform precise measurements on children and babies especially.

The work has progressed at a brisk pace and yielded promising results: measurements made with optical sensors are already approaching the spatial accuracy of measurements made inside the cranium.

Parkkonen believes that a MEG system based on optical sensors could also be somewhat cheaper and more compact and thus easier to place than traditional devices; such a MEG system could utilize a person-sized magnetic shield instead of a large shielded room as the conventional MEG systems do.

This would bring it into reach of more researchers and hospitals.

Author: Minna HlttSource: Aalto UniversityContact: Minna Hltt Aalto UniversityImage: The image is in the public domain

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Artificial Intelligence to Assess Dementia Risk and Enhance the Effectiveness of Depression Treatments - Neuroscience News

Neuroscience

Insights on the Mental Health Apps Global Market to 2027: Featuring Sanvello Health, Flow Neuroscience and Youper Among Others – GlobeNewswire

Dublin, April 21, 2022 (GLOBE NEWSWIRE) -- The "Global Mental Health Apps Market Size, Share & Industry Trends Analysis Report By Application, By Platform Type (iOS, Android, and Others), By Regional Outlook and Forecast, 2021-2027" report has been added to ResearchAndMarkets.com's offering.

The Global Mental Health Apps Market size is expected to reach $10.2 billion by 2027, rising at a market growth of 16.3% CAGR during the forecast period.

The market is rising because individuals become more aware of the significance of mental health and as a result of the debut of several mental wellness applications. The advent of significant health campaigns such as the Campaign Against Living Miserably (CALM) to promote awareness about mental health, as well as the rising use of connected gadgets among the youthful population, is driving up market value.

Furthermore, poor work-life balance and eating habits, social isolation, hectic schedules, and relationship issues are all key factors that are raising the incidence of mental illness among people all over the world, particularly in developed and emerging nations. Moreover, it is expected that increased awareness among people in developing economies, as well as the creation of updated and advanced featured applications, is expected to provide prospective prospects over the forecast period.

Therapy applications were already gaining traction among people dealing with issues ranging from stress to serious mental disease when the COVID-19 outbreak struck. When offices turned virtual, they carved out a niche for themselves in the mental health industry. While certain apps, such as Talkspace and Betterhelp, pair you with a certified therapist, a large chunk of the industry has gone completely humanless. Friendly chatbots provide cognitive behavioural therapy; mood trackers remind bipolar disorder patients to keep track of their mood; and apps for treating post-traumatic stress disorder claim to assist people to get over acute bouts by guiding them through deep breathing exercises.

COVID-19 Impact AnalysisThe COVID-19 pandemic resulted in a spike in mental health app downloads as well as greater awareness of mental health as a serious concern. As a result, the digital health and mobile health sectors have shown significant growth potential. According to ORCHA (Organization for the Review of Care and Health Applications) data, mental health app downloads in the United Kingdom climbed by about 200 percent from summer 2019 to summer 2020.

Due to the many advantages offered by these apps in treating mental health conditions like as stress, sadness, and anxiety, the market for mental health apps saw a rise in adoption during the COVID-19 pandemic. As per Sensor Tower statistics, the top mental wellness apps saw a combined download increase of about 2 million in April 2020 compared to January.

Market Growth Factors:

High inclination towards virtual therapiesFor persons suffering from depression, there are literally thousands of apps available. Some are based on exchanging messages or making phone calls with doctors, while others provide recommendations, self-guided mood training programmes, and gamification components. MoodTools, an anti-depression app, treats depression carefully and has a suicide safety plan in place in the event of a crisis. There are additional apps for treating diseases like schizophrenia and psychoses, in addition to depression apps. Doctors, on the other hand, argue that apps for people with psychological illnesses are best used as a supplement to regular therapy; unlike apps for mentally healthy people, applications for persons with psychological disorders must include doctors.

Increasing stress level among individualsPeople's or society's stress levels are rising as a result of causes such as substance addiction, increased mental health awareness in recent years, and fewer social connections. In addition, over time, the use of advanced linked technologies such as physician-recommended mental health apps, wearables, and self-assessment awareness gadgets has grown. As a result, demand for mental health apps is predicted to increase in recent years. Psychotherapists, other doctors, psychiatrists, and clinical psychologists can use mental apps to examine and monitor their patients' mental health. As a result, the market for mental health applications is fueled by the adoption of such apps by experts.

Market Restraining Factors

Privacy and research concernsAlthough there is research on using mobile apps in conjunction with therapy, there is little research about how these apps are developed, with one exception: if the apps are produced by the federal government, such as the Substance Abuse and Mental Health Administration (SAMHSA) or the US Department of Veteran's Affairs (VA)/Department of Defense (DOD), they usually include app development information. There are two types of mental health apps for mobile devices: passive and active. Active apps necessitate direct patient input, like the completion of mood logs, self-symptom ratings, and the recording of personal experiences. Without the patient or provider's knowledge, passive apps can access information and collect data using smartphone functions like GPS. Though it may be advantageous, some people may object to the possible invasion of privacy that such data collection entails.

Application OutlookBased on Application, the market is segmented into Depression & Anxiety Management, Meditation Management, Stress Management, Wellness Management, and Others. The stress management segment witnessed a promising revenue share in the mental health apps market in 2020. The increasing prevalence of stress and related diseases, as well as the growing usage of applications that aid in stress reduction and management, are driving the segment's rise over the forecast period.

Platform Type OutlookBased on Platform Type, the market is segmented into iOS, Android, and Others. In 2020, the iOS segment procured the highest revenue share in the mental health apps market. The growing acceptance of iOS among customers can be linked to the rise of the iOS category. The market share of iOS in the United Kingdom climbed from 47 percent in Q3 2020 to 51.6 percent in Q3 2021, according to data published by Business of Apps in 2021. As a result, such examples show that the segment will grow in the next years.

Regional OutlookBased on Regions, the market is segmented into North America, Europe, Asia Pacific, and Latin America, Middle East & Africa. North America emerged as the leading region in the mental health apps market with the maximum revenue share in 2020. The market is being fueled by prominent factors such as the increasing adoption of smartphones, advancements in coverage networks, and increased penetration of the internet and social media. Smartphone usage in the North American region was around 80% in 2020, according to the GSMA's The Mobile Economy Report 2021, and is anticipated to reach 85 percent by 2025.

Recent Strategies Deployed in Mental Health Apps Market

Companies Mentioned

For more information about this report visit https://www.researchandmarkets.com/r/u6thhb

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Insights on the Mental Health Apps Global Market to 2027: Featuring Sanvello Health, Flow Neuroscience and Youper Among Others - GlobeNewswire

Neuroscience

Drug Reduced Frequency of Breathing Pauses in Sleep Apnea – Neuroscience News

Summary: Sulthiame, a CA inhibitor drug, reduced the number of breathing pauses and promoted oxygenation during the night in sufferers of obstructive sleep apnea.

Source: University of Gothenburg

A new University of Gothenburg study has paved the way for the first drug treatment for sleep apnea. Compared to before receiving the treatment, breathing pauses decreased with on average more than 20 per hour for patients given the drug.

The treatment that has been tested is carbonic anhydrase (CA) inhibition, CA being an enzyme that serves to maintain a balance between carbonic acid and carbon dioxide in the body. Several drugs with CA inhibitory properties are already available on the market, and used for treatment of glaucoma, epilepsy and other disorders.

Previous research has not systematically tested whether CA inhibitors also might be used to treat obstructive sleep apnea. The current study was a randomized double-blind clinical trial, and 59 patients with moderate or severe sleep apnea completed it.

Patients were randomly assigned to two groups receiving either 400 or 200 mg of the CA inhibitor, and a third group (the control group) that received placebo. The study lasted for four weeks.

Fewer breathing pauses

The results show that, overall, the treatment reduced the number of breathing pauses and promoted oxygenation during the night. A few patients experienced side effects, such as headache and breathlessness, which were more common in those receiving the highest dose.

The study results together with established safety data of the drug sulthiame provide support for continued research on CA inhibition as a new potential treatment for obstructive sleep apnea.

Among the patients who received the higher dosage of the drug, the number of breathing pauses decreased by approximately 20 per hour. For just over a third of patients in the study, only half of their breathing pauses were left, and in one in five the number fell by at least 60 percent, says Jan Hedner, Professor of Pulmonary Medicine.

The fact that several approved drugs in the CA inhibitor category are available on the market makes fast-tracking development of an approved drug for sleep apnea practicable. The drug used in this clinical trial was sulthiame, which is sometimes used to treat epilepsy in children.

Treatment options needed

Today, treatment for a patient with sleep apnea is either an oral appliance therapy or a CPAP (Continuous Positive Airway Pressure) mask. Both help to maintain airway patency during sleep.

These therapy options take time to get used to and, since they frequently are perceived as intrusive or bulky. Insufficient user time is therefore common. If we develop an effective drug, it will therefore make life easier for many patients and, in the long run, potentially also save more lives, says Ludger Grote, Senior Lecturer at Sahlgrenska Academy, University of Gothenburg.

The German pharmaceutical company Desitin Arzneimittel GmbH funded the trial, and the results are published in the American Journal of Respiratory and Critical Care Medicine.

Author: Press OfficeSource: University of GothenburgContact: Press Office University of GothenburgImage: The image is in the public domain

Original Research: The findings will appear in American Journal of Respiratory and Critical Care Medicine

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Drug Reduced Frequency of Breathing Pauses in Sleep Apnea - Neuroscience News

Neuroscience

BetterLife To Present BETR-001 Preclinical Data at the Upcoming Canadian Association for Neuroscience Conference – Yahoo Finance

BetterLife Pharma Inc.

VANCOUVER, British Columbia, April 21, 2022 (GLOBE NEWSWIRE) -- BetterLife Pharma Inc. (BetterLife or the Company) (CSE: BETR / OTCQB: BETRF / FRA: NPAU), an emerging biotech company focused on the development and commercialization of cutting-edge treatments for mental disorders, today announced that an abstract on the preclinical data on anti-depressant activity of its lead compound 2-bromo-LSD (BETR-001) was accepted for presentation at the upcoming Canadian Association for Neuroscience (CAN) Conference, being held May 12-15 in Toronto, Canada. The study, led by Dr. Vern Lewis, is part of BetterLifes collaboration with the laboratory of Dr. Argel Aguilar-Valles at Carleton Universitys Department of Neuroscience. This collaboration is also supported by the Mitacs Accelerate program.

At CAN, Dr. Lewis will present preclinical data demonstrating the neural plasticity-promoting and anti-depressant properties of BETR-001 from both in vitro and in vivo studies. The Dr. Lewis study demonstrated that treatment of rat embryonic cortical neurons with BETR-001 increases the structural complexity of neurons (dendrite growth and complexity) and therefore, provides evidence of neural plasticity activity of BETR-001. In certain measurements of structural plasticity in neurons, BETR-001 performed better than ketamine in this model.

BetterLife believes that BETR-001 is an uniquely positioned LSD derivative with the potential to be as effective as LSD in various neuro-psychiatric and neurological disorders without the burden of being hallucinogenic. Because of its non-hallucinogenic nature, BETR-001 will not have all the LSD requirements of administration in specialized clinics under special treatment protocols, the LSD controlled substance regulatory issues which impact manufacturing, distribution and patient access, and the overall associated high treatment costs for all these parameters. BETR-001 is protected by BetterLifes composition, method-of-use, synthesis and formulation patents (issued & provisional).

About BetterLife Pharma

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BetterLife Pharma Inc. is an emerging biotechnology company primarily focused on developing and commercializing two compounds, BETR-001 and BETR-002, to treat neuro-psychiatric and neurological disorders.

BETR-001, which is in preclinical and IND-enabling studies, is a non-hallucinogenic and non-controlled LSD derivative in development and it is unique in that it is unregulated and therefore can be self-administered. BetterLifes synthesis patent for BETR-001 eliminates regulatory hurdles and its pending patent for composition and method of use covers treatment of depression, cluster headaches, post-traumatic stress disorder and other neuro-psychiatric and neurological disorders.

BETR-002, which is in preclinical and IND-enabling studies, is based on honokiol, the active anxiolytic ingredient of magnolia bark. BetterLifes pending method of use and formulations patent covers treatment of anxiety related disorders including benzodiazepine dependency.

BetterLife also owns a drug candidate for the treatment of viral infections such as COVID-19 and is in the process of seeking strategic alternatives for further development.

For further information, please visit BetterLife Pharma.

About the Department of Neuroscience at Carleton University

Carleton Neuroscience has an international reputation for research on stress and its effects on brain functioning and mental health. The department has an interdisciplinary approach to understanding the emergence, prevention and treatment of mental and physical disorders.For more information, please visit http://www.carleton.ca/neuroscience.

Contact Information

David Melles, Investor Relations ManagerEmail: David.Melles@blifepharma.comPhone: 1-778-887-1928

Cautionary Note Regarding Forward-Looking Statements

No securities exchange has reviewed nor accepts responsibility for the adequacy or accuracy of the content of this news release. This news release contains forward-looking statements relating to product development, licensing, commercialization and regulatory compliance issues and other statements that are not historical facts. Forward-looking statements are often identified by terms such as will, may, should, anticipate, expects and similar expressions. All statements other than statements of historical fact, included in this release are forward-looking statements that involve risks and uncertainties. There can be no assurance that such statements will prove to be accurate and actual results and future events could differ materially from those anticipated in such statements. Important factors that could cause actual results to differ materially from the Companys expectations include the failure to satisfy the conditions of the relevant securities exchange(s) and other risks detailed from time to time in the filings made by the Company with securities regulations. The reader is cautioned that assumptions used in the preparation of any forward-looking information may prove to be incorrect. Events or circumstances may cause actual results to differ materially from those predicted, as a result of numerous known and unknown risks, uncertainties, and other factors, many of which are beyond the control of the Company. The reader is cautioned not to place undue reliance on any forward-looking information. Such information, although considered reasonable by management at the time of preparation, may prove to be incorrect and actual results may differ materially from those anticipated. Forward-looking statements contained in this news release are expressly qualified by this cautionary statement. The forward-looking statements contained in this news release are made as of the date of this news release and the Company will update or revise publicly any of the included forward-looking statements as expressly required by applicable law.

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BetterLife To Present BETR-001 Preclinical Data at the Upcoming Canadian Association for Neuroscience Conference - Yahoo Finance

Genetics

Study mines cancer genetics to help with targeted treatment – ABC News

Scientists from the United Kingdom have analyzed the full genetic blueprints of more than 18,000 cancer samples, finding new patterns of mutations that could help doctors provide better, more personalized treatment

By LAURA UNGAR AP Science Writer

April 21, 2022, 6:02 PM

3 min read

Scientists have analyzed the full genetic blueprints of more than 18,000 cancer samples, finding new patterns of mutations that could help doctors provide better, more personalized treatment.

Their study, published Thursday in the journal Science, isnt the first to do such comprehensive whole genome analyses of cancer samples. But no one has ever done so many.

This is the largest cohort in the world. It is extraordinary, said Serena Nik-Zainal of the University of Cambridge, who was part of the team.

Just over 12,200 surgical specimens came from patients recruited from the U.K. National Health Service as part of a project to study whole genomes from people with common cancers and rare diseases. The rest came from existing cancer data sets.

Researchers were able to analyze such a large number because of the same improvements in genetic sequencing technology that recently allowed scientists to finally finish decoding the entire human genome more capable, accurate machines.

We can really begin to tease out the underpinnings of the erosive sort of forces that go to sort of generate cancer," said Andrew Futreal, a genomic medicine expert at MD Anderson Cancer Center in Houston who was not involved in the study.

Cancer is a disease of the genome, or full set of instructions for running cells, that occurs when changes in a persons DNA cause cells to grow and divide uncontrollably. In 2020, there were about 19 million new cancer cases worldwide.

For the study, researchers looked at 19 different types breast, colorectal, prostate, brain and others and identified 58 new clues to the causes of cancer called mutational signatures" that contribute to the development of the disease. They also confirmed 51 of more than 70 previously reported mutation patterns, Nik-Zainal said.

Some arise because of problems within a persons cells; others are sparked by environmental exposures such as ultraviolet radiation, tobacco smoke or chemicals.

Knowing more of them helps us to understand each persons cancer more precisely, which can help guide treatment, Nik-Zainal said.

Genetic sequencing is already being woven into cancer care as part of the growing trend of personalized medicine, or care based on a patients genes and specific disease. Now doctors will have much more information to draw from when they look at individual cancers.

To help doctors use this information, researchers developed a computer algorithm that will allow them to find common mutation patterns and seek out rare ones. Based on a particular pattern, Nik-Zainal said a doctor may suggest a certain course of action, such as getting immunotherapy.

Futreal said the data can also show doctors what tends to happen over time when a patient develops a cancer with a certain mutation pattern helping them intervene earlier and hopefully stop the developing disease in its tracks.

The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institutes Department of Science Education. The AP is solely responsible for all content.

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Study mines cancer genetics to help with targeted treatment - ABC News

Genetics

Discovering Genetic Variants that Significantly Predispose People to Critical COVID-19 – News-Medical.Net

Please can you introduce yourself, tell us about your background in medical informatics, and what inspired your latest research into identifying independent variants that significantly predispose to critical COVID-19?

My name is Erola Pairo-Castineira, and I am a postdoctoral researcher specializing in statistical genetics in Professor Baillie's lab at the University of Edinburgh.

I'm interested in the differences in DNA sequence between people and how this affects how sick you get when infected with SARS-CoV-2. Most people are asymptomatic or have mild symptoms when infected, while some people need hospitalization and a few need to be admitted into ICU to receive mechanical ventilation. Although certain factors like age and sex affect your predisposition to critical COVID-19, there are differences even in people with similar age, sex, and other variables affecting COVID-19 severity.

Our research aims to find the genetic factors that may predisposeto critical COVID-19 and learn how COVID-19 affects cells in the body. The main objective of the project is to find which biological pathways influence critical COVID-19 to be able to find druggable targets that may benefit everyone.

People suffering from critical COVID-19 have been admitted into an intensive care unit. They will have all the classic symptoms of COVID-19, such as a cough and fever, but also very low blood oxygen. The mechanism causing it is inflammation in the lung, where the virus is replicating.

Image Credit: plo/Shutterstock.com

In our first study, we found five genetic signals related to critical COVID-19 related to host antiviral defense mechanisms and mediators of inflammatory organ damage. Other studies since then have found signals related to susceptibility to infection with SARS-CoV-2 and hospitalization and critical illness with COVID-19.

Microarray genotyping reads a set of variants in the genome, and from them, and using information about genomes of known populations, we infer the rest of the genome. This is very difficult to do for rare variants, which will have low accuracy in the inference, and it is also affected by the quality of the reference panel used. Even in the best cases, not all variants can be retrieved with high accuracy, and some of them have to be filtered. Whole-genome sequencing reads every base in our genome, providing high accuracy for all variants.

To carry out the analysis, we compared the genome of people who had critical COVID-19, focusing on people in intensive care units in UK hospitals, with individuals that had only mild symptoms during SARS-CoV-2 infection, and with the general population. The comparison highlights variants of the genome that affect your probability of becoming critically ill with COVID-19.

In this study, we found 16 new regions associated with critical COVID-19. We were also able to identify some of these variants as variants that affect the function of some proteins (for example, a protein called IFNA10). In other cases, we could show that changes in gene expression would affect the probability of having severe COVID-19.

Interferons are a large family of proteins with roles in antiviral defense. They are produced when the cell recognizes a viral intruder, and they propagate defensive and offensive signals to help destroy the virus and protect nearby cells. Interferons can induce inflammation by activating the transcription of a number of different genes, and if they are not tightly controlled during an immune reaction, they may cause hyper-inflammation.

There are different types of interferon, called Interferon Type-I, Interferon Type-II, and Interferon Type-III. The genes we have found are mainly associated with Type-I Interferon signaling. Interestingly, one of these genes (TYK2) has a protein product that a widely available drug, baricitinib, can inhibit. It was recently shown in the RECOVERY trial (a large-scale randomized control trial for many potential COVID-19 treatments in the UK) that administration of baricitinib can lower mortality in COVID-19.

Image Credit: Thanapipat Kulmuangdoan/Shutterstock.com

In the case of baricitinib, it was lucky that it was already available for rheumatoid arthritis, so it had been proven safe and effective. Usually, the process is much longer when a potential gene target is identified. The most important first step is confirming the associations we see in the DNA data in cells and tissues - in vitro experiments will be required to ensure the target is worth pursuing. An appropriate drug must be identified, tested, and shown to be safe. It can be a long process; however, our analysis can narrow down the most likely drug targets, which is a major step forward.

The study's main limitation is that we recruited cases in the middle of a pandemic, so we didn't have genotypes for mild cases to use as controls. Instead of mild COVID-19 cases, we used controls from different studies of the general population. This was technically challenging since the genotyping or whole-genome sequencing tools used differed, and we had to account for these differences. We now have genotypes from mild COVID-19 cases generated using the same pipelines as our critical COVID-19 cases.

Collaboration is vital to this research. People with very different expertise are needed to do an analysis like this. To carry out this analysis, we needed people to work in many different roles. Administrative staff organized paperwork and established sites, doctors and nurses recruited patients, research technicians sequenced DNA, then informaticians processed this DNA information in a computer and analyzed it to find the DNA regions related to COVID-19. Finally, it's rarely true that the results immediately make sense, so there were a number of groups of researchers working closely together to interpret the biological meaning of the results.

We're still working on critical COVID-19. We have recruited more individuals and will soon start a new analysis with 15,000 critical cases and 15,000 mild controls (people who had mild or asymptomatic COVID-19). We also have gene expression data from hospitalized patients that we can link to our analysis outputs which will likely help us address some of the limitations mentioned above.

My name is Erola Pairo-Castineira I am currently a postdoctoral researcher at the Roslin Institute at the University of Edinburgh. Over the last two years, I have been working on host genetic studies of COVID-19. I have conducted several analyses that have led to the discovery of new genetic associations of COVID-19 critical illness. Before my current position, I was a postdoctoral researcher in the MRC-HGU, working on the integration of omics and genotype data to identify causal genes and pathways underlying pigmentation traits.

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Genetics

Treating, preventing cancer beyond genetics: U of A researcher – Edmonton Journal

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If we understand the causes of cancer, then we can start highlighting the known causes, the lifestyle issues that introduce or increase our risk

Environmental and metabolic factors not just genetics are growing considerations in the fight against cancer, concludes a research review by a leading expert at the University of Alberta.

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Cancer as a genetic disease, focusing on the set of genetic instructions every person is born with; it is also an environmental disease, focusing on the exposome, which includes everything a persons body has been exposed to; and cancer is a metabolic disease, focusing on the metabolome, or all the chemical byproducts of the process of metabolism, explains David Wishart, professor in the departments of biological sciences and computing science, in a Thursday news release.

But that metabolic perspective hasnt had much research until now, as more scientists begin to understand the metabolomes role in cancer.

Heritable cancers account for just five to 10 per cent of all cancers, Wishart said, with the other 90 to 95 per cent initiated by factors in the exposome, which in turn trigger genetic mutations.

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Thats an important thing to consider, because it says that cancer isnt inevitable.

As cancer develops and spreads in the body, it creates its own environment and introduces certain metabolites, becoming a self-fuelled disease. And thats where cancer as a metabolic disorder becomes really important.

Considering the genome, exposome and metabolome together when thinking about cancer shows more promise for finding treatments.

Researchers who focus only on the genetic perspective are looking to address particular mutations but there are around 1,000 genes that can become cancerous when mutated, and it typically takes two different mutations within these cells for cancer to grow, notes Wishart, meaning there are a million potential mutation pairs. Then it can become hopeless to narrow down possibilities when seeking new treatments.

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But considering cancer from the metabolic perspective, there are just four major metabolic types, said Wishart, so determining the patients cancer type can immediately guide doctors on the best treatment for their specific cancer.

It really doesnt make a difference where the cancer is its something youve got to get rid of. Its how it thrives or grows that matters, said Wishart. It becomes a question of, Whats the fuel that powers this engine?

Wishart cautions that health-care providers still need a mix of therapeutics for cancer, and a deeper understanding of the metabolome and its role in the cancer feedback loop is also critical to preventing cancer.

If we understand the causes of cancer, then we can start highlighting the known causes, the lifestyle issues that introduce or increase our risk, he said.

From the prevention side, changing our metabolism through lifestyle adjustments will make a huge difference in the incidence of cancer.

The research review was funded by Genome Canada, the Canadian Institutes of Health Research and the Canada Foundation for Innovation.

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Treating, preventing cancer beyond genetics: U of A researcher - Edmonton Journal

Genetics

Sidney Altman, Who Stumbled on a Breakthrough in Genetics, Dies at 82 – The New York Times

Sidney Altman was born on May 7, 1939, in Montreal, the second son of Victor and Ray (Arlin) Altman. His mother was a textile worker; his father ran a grocery store.

The family had little money, but Dr. Altman, in an autobiographical sketch for the Nobel Institute, credited his parents with setting a good example that stayed with him for the rest of his life. It was from them, he wrote, that I learned that hard work in stable surroundings could yield rewards, even if only in infinitesimally small increments.

Dr. Altman became fascinated by science as a boy first by news of the detonation of the first atomic bomb, when he was 6 years old, and then by seeing the periodic table of the elements, which, he wrote, gave him a sense of the elegance of scientific theory and its predictive power.

He had intended to enroll at McGill University in his hometown, but he changed course when he was accepted by the Massachusetts Institute of Technology. He studied physics at M.I.T., but in his final semester, out of curiosity, he took an introductory course in molecular biology and found it compelling.

After M.I.T., he spent 18 months in a graduate physics program at Columbia University, but he said he was not really happy there. He wanted to be an experimental scientist and there was no opportunity at Columbia, so he quit and went back to Canada.

The next summer, he was offered a job writing about science for an institute in Boulder, where he could also take summer courses.

One night he wound up at a party talking to George Gamow, a well-known physicist, cosmologist and writer. Dr. Altman explained that he was dissatisfied with physics but fascinated with biophysics. Dr. Gamow suggested that he go to the University of Colorado in Denver, which had a good biophysics department.

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Sidney Altman, Who Stumbled on a Breakthrough in Genetics, Dies at 82 - The New York Times

Genetics

Familial Hypertension: The Genetics of High Blood Pressure – Healthline

High blood pressure means the force of blood flowing through your arteries is greater than it should be. If not controlled, it could damage your blood vessels and cause other health problems.

High blood pressure (hypertension) tends to be a condition we associate with being too sedentary or getting older. But high blood pressure can also be a genetic condition, affecting people who are otherwise fit and healthy.

A parent with high blood pressure can pass along a gene to a child, raising that persons risk of developing hypertension one day. Familial hypertension may also result from a family lifestyle that includes high blood pressure risk factors, such as smoking or an unhealthy diet.

Blood pressure is the force of circulating blood against the inner wall of your arteries. Its measured in millimeters of mercury (mm Hg) and is presented as two numbers:

According to the American Heart Association, healthy blood pressure is a systolic pressure of less than 120 mm Hg and a diastolic pressure of less than 80 mm Hg. This is a blood pressure of less than 120/80 mm Hg.

If your blood pressure is higher than that, doctors consider you to have elevated blood pressure or stage 1 or 2 hypertension.

Risk factors for high blood pressure include a family history of hypertension, as well as:

What makes high blood pressure so dangerous is that it can exist for a long time without presenting any obvious symptoms. Measuring your blood pressure is the only way to know if you have hypertension.

In extreme cases, when blood pressure exceeds 180/120 mm Hg, you have a medical emergency known as a hypertensive crisis. Symptoms can include:

Research from 2017 suggests that high blood pressure results from a combination of factors, including genetic, environmental, and behavioral components.

Unlike some diseases with only one or a few genes as risk factors, familial hypertension can result from variations in hundreds of different genes, according to a 2019 study of more than 750,000 individuals. This makes it difficult to pinpoint specific genes that could be treatment targets.

The Centers for Disease Control and Prevention (CDC) also notes that families may affect a persons hypertension risk because of the home environment.

Smoking or even breathing in secondhand smoke can raise blood pressure risks. A diet high in sodium and saturated fat may also cause a blood pressure increase. If physical activity and good sleeping habits arent part of a family dynamic, blood pressure can also be negatively affected.

Monogenic hypertension refers to blood pressure caused by one genetic variant inherited from a parent. Monogenic hypertension accounts for about 30 percent of hypertension cases. Most of those are associated with imbalances of electrolytes, such as potassium.

There are several types of monogenic hypertension syndromes, each with a unique set of origins and symptoms. These include:

Knowing about your family medical history is important for many reasons. A history of certain cancers, for example, may determine when you get screened for those cancers. If high blood pressure runs in your family, its important to share this information with your doctor and regularly monitor your blood pressure.

One way to organize information about your family health history, as well as your own, is to use My Family Health Portrait, an online tool created by the National Institutes of Health. You can gather your family medical history, share it with other relatives, and learn about your risk levels for conditions that tend to run in families.

If your blood pressure is currently at a healthy level, you can make several key lifestyle adjustments to lower the odds of it rising too much. If your blood pressure is higher than usual, these steps, along with medications, may help you bring it back down to a healthy range:

The National Heart, Lung, and Blood Institute developed the Dietary Approaches to Stop Hypertension (DASH) eating plan as a heart-healthy eating strategy.

This plan focuses on managing blood pressure by emphasizing fruits, vegetables, whole grains, lean proteins, and sodium reduction. Its also flexible enough to let people enjoy many of their favorite foods.

Sufficient sleep is essential to good overall health, especially for brain and heart function. Blood pressure is especially susceptible to problems related to poor sleep.

A 2022 study suggests that frequent sleep disturbances and short sleep, or less than 5, 6, or 7 hours, can contribute to hypertension.

Taking steps to improve sleep duration and quality may improve more than just your cardiovascular health. It can also improve your mood, concentration, energy, metabolism, and more.

Hypertension is a major risk factor for cardiovascular disease, the leading cause of death in the United States. High blood pressure is also a leading cause of stroke and a risk factor for chronic kidney disease and other health problems.

If your family medical history includes high blood pressure, start taking steps to lower your risk through heart-healthy behaviors. Even if you dont know your family history or dont have a close relative with hypertension, its still important to take steps to keep your blood pressure under control.

Theres a variety of anti-hypertensive medications that can help. But these medications dont take the place of a healthy diet, exercise, and getting plenty of sleep to help maintain a healthy blood pressure.

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Familial Hypertension: The Genetics of High Blood Pressure - Healthline