Connect with us

Bioengineer

Largest comprehensive Middle East GWAS reveals Arab genetic risk factors

Avatar

Published

on

QATAR GENOME RESEARCH CONSORTIUM investigators identify genetic associations with 45 clinically relevant traits in the Qatari population

Doha, Qatar – (February 23, 2021) – A group of researchers at Qatar Foundation have reported the first and largest genetic association study in the Middle East, that has been published online in Nature Communications – a leading a peer-reviewed, open access, scientific journal published by Nature Research.

The study titled “Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits” highlights a vital piece of information wherein now there is a better understanding of the genetic risk factors that are specific to the Arab population, including those that are shared with other ethnicities.

Qatar was among the first countries to launch its own large-scale, national genome project. Qatar Genome combines whole genome sequencing data with comprehensive phenotypic resource collected at Qatar Biobank, and is considered the first, largest and most ambitious population-based projects of its kind in the Middle East.

This kind of studies can be considered as experiments conducted by nature, where the natural variation found in the genomes of thousands of Qataris is linked to variations in their respective blood tests. The results from this project are shared publicly, ensuring that the specificities of the Arab genomes will be taken into consideration in future research on new treatments and therapies.

The study – led by researchers at Qatar Foundation’s (QF’s) Hamad Bin Khalifa University (HBKU) and QF’s partner university Weill Cornell Medicine – Qatar (WCM-Q), along with other scientists from the Qatar Genome Research Consortium – includes over 6,000 Qatari individuals with whole genome sequence data.

By performing detailed assessments of genetic variants across the whole genome in 6,218 individuals, comprising data from 45 clinically relevant traits, this study identified about 300 independent genetic signals. Some of these signals were predominantly found in the Qatari population. This observation was then confirmed in a further 7,768 subjects from QF’s Qatar Biobank.

Omar Albagha, Principal Investigator from HBKU’s College of Health and Life Sciences, says: “The study provides new insights into the genetic architecture of clinical laboratory tests and identifies for the first time genetic variations that are specific to the population of Qatar. The study also shows that findings from genetic studies in European populations don’t translate well when applied to our population in the Middle East. This argues for further studies to define the genetic architecture of diseases in our region. We are excited because the study represents a foundation for the implementation of precision medicine in the Middle East.”

Karsten Suhre, Director of Bioinformatics Core at Weill Cornell Medicine – Qatar and joint senior author on the paper, says: “It has been a long but successful journey from the first patient recruitments to Qatar Biobank to analyzing the resulting enormous genetic data set for associations with clinically relevant traits, and we as a consortium are proud to contribute with this paper to the international effort of obtaining an even better understanding of our human genome.”

“Qatar Genome Research Consortium gave research groups the platform to study whole genome sequencing and other omics data to empower the genetic discoveries in this part of the world, which otherwise would be under-represented,” said Professor Said Ismail, Director of QF’s Qatar Genome, part of QF Research, Development, and Innovation.

###

Reference:
Thareja G, Al-Sarraj Y, Belkadi A, Almotawa M, the Qatar Genome Program Research (QGPRC) Consortium, Suhre K, Albagha O.M.E. “Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits” Nature Communications 2021 https://doi.org/10.1038/s41467-021-21381-3

About Qatar Genome Program

Qatar Genome Program (QGP) is the largest genome project in the Middle East with a mission to promote genomic research and clinical implementation at a national level. QGP is designed around a comprehensive strategy involving large scale genome sequencing and multi-omics data, establishing local and international research partnerships, building local human capacity, facilitating integration into the healthcare system, drafting guidelines and policies, raising public awareness as well as empowering and educating patients.

About Qatar Biobank

Qatar Biobank is a medical research center performing vital health research through its collection of samples and information on health and lifestyle of the Qatari population.
Qatar Biobank was created in collaboration with Hamad Medical Corporation and the Ministry of Public Health to enable local scientists to conduct medical research on prevalent health issues in Qatar.
Qatar Genome and Qatar Biobank are both Research, Development & Innovation entities within Qatar Foundation for Education, Science and Community Development.

About Hamad Bin Khalifa University

Innovating Today, Shaping Tomorrow

Hamad Bin Khalifa University (HBKU), a member of Qatar Foundation for Education, Science, and Community Development (QF), was founded in 2010 as a research-intensive university that acts as a catalyst for transformative change in Qatar and the region while having global impact. Located in Education City, HBKU is committed to building and cultivating human capacity through an enriching academic experience, innovative ecosystem, and unique partnerships. HBKU delivers multidisciplinary undergraduate and graduate programs through its colleges, and provides opportunities for research and scholarship through its institutes and centers. For more information about HBKU, visit http://www.hbku.edu.qa.

About Weill Cornell Medicine-Qatar

Weill Cornell Medicine – Qatar is a partnership between Cornell University and Qatar Foundation. It offers a comprehensive six-year medical program leading to the Cornell University M.D. degree with teaching by Cornell and Weill Cornell faculty and by physicians at Hamad Medical Corporation (HMC), Aspetar Orthopedic and Sports Medicine Hospital, the Primary Health Care Corporation, the Feto Maternal Center, and Sidra Medicine, who hold Weill Cornell appointments. Through its biomedical research program, WCM-Q is building a sustainable research community in Qatar while advancing basic science and clinical research. Through its medical college, WCM-Q seeks to provide the finest education possible for medical students, to improve health care both now and for future generations, and to provide high quality health care to the Qatari population.

Qatar Foundation – Unlocking Human Potential

Qatar Foundation for Education, Science and Community Development (QF) is a non-profit organization that supports Qatar on its journey to becoming a diversified and sustainable economy. QF strives to serve the people of Qatar and beyond by providing specialized programs across its innovation-focused ecosystem of education, research and development, and community development.

QF was founded in 1995 by His Highness Sheikh Hamad bin Khalifa Al Thani, the Father Amir, and Her Highness Sheikha Moza bint Nasser, who shared the vision to provide Qatar with quality education. Today, QF’s world-class education system offers lifelong learning opportunities to community members as young as six months through to doctoral level, enabling graduates to thrive in a global environment and contribute to the nation’s development.

QF is also creating a multidisciplinary innovation hub in Qatar, where homegrown researchers are working to address local and global challenges. By promoting a culture of lifelong learning and fostering social engagement through programs that embody Qatari culture, QF is committed to empowering the local community and contributing to a better world for all.

For a complete list of QF’s initiatives and projects, please visit: http://www.qf.org.qa

For any media inquiries, please contact: [email protected]

Source: https://bioengineer.org/largest-comprehensive-middle-east-gwas-reveals-arab-genetic-risk-factors/

Bioengineer

USC Stem Cell study identifies molecular ‘switch’ that turns precursors into kidney cells

Avatar

Published

on

Kidney development is a balancing act between the self-renewal of stem and progenitor cells to maintain and expand their numbers, and the differentiation of these cells into more specialized cell types. In a new study in the journal eLife from Andy McMahon’s laboratory in the Department of Stem Cell Biology and Regenerative Medicine at the Keck School of Medicine of USC, former graduate student Alex Quiyu Guo and a team of scientists demonstrate the importance of a molecule called β-catenin in striking this balance.

β-catenin is a key driver at the end of a complex signaling cascade known as the Wnt pathway. Wnt signaling plays critical roles in the embryonic development of multiple organs including the kidneys. By partnering with other Wnt pathway molecules, β-catenin controls the activity of hundreds to thousands of genes within the cell.

The new study builds on the McMahon Lab’s previous discovery that Wnt/β-catenin can initiate progenitor cells to execute a lengthy and highly orchestrated program of forming structures in the kidney called nephrons. A healthy human kidney contains a million nephrons that balance body fluids and remove soluble waste products. Too few nephrons results in kidney disease.

Previous studies from the UT Southwestern Medical Center laboratory of Thomas Carroll, a former postdoctoral trainee in the McMahon Lab, suggested that Wnt/β-catenin signaling plays opposing roles in ensuring the proper number of nephrons: promoting progenitor maintenance and self-renewal, and stimulating progenitor cell differentiation.

“It sounded like Wnt/β-catenin is doing two things–both maintenance and differentiation–that seem to be opposite operations,” said Guo. “Therefore, the hypothesis was that different levels of Wnt/β-catenin can dictate different fates of the nephron progenitors: when it’s low, it works on maintenance; when it’s high, it directs differentiation.”

In 2015, it became more possible to test this hypothesis when Leif Oxburgh, a scientist at the Rogosin Institute in New York and a co-author of the eLife study, developed a system for growing large numbers of nephron progenitor cells, or NPCs, in a Petri dish.

Relying on this game-changing new system, Guo and his collaborators grew NPCs, added different levels of a chemical that activates β-catenin, and saw their hypothesis play out in the Petri dishes.

They observed that high levels of β-catenin triggered a “switch” in part of the Wnt pathway that relies on another family of transcription factors known as TCF/LEF. There are two types of TCF/LEF transcription factors: one type inhibits genes related to differentiation, and the other activates these genes. In response to high levels of β-catenin, the “activating” members of TCF/LEF switched places with the “inhibiting” members, effectively taking charge. This “switch” triggered NPCs to differentiate into more specialized types of kidney cells.

When they looked at low levels of β-catenin, they saw NPCs self-renewing and maintaining their populations, as expected. However, they were surprised to learn that β-catenin was not engaged with any of the known genes related to self-renewal and maintenance.

“β-catenin does something,” said Guo. “That is for sure. But how it does it is kind of mysterious right now.”

After publishing these results in eLife, Guo earned his PhD from USC, and began his postdoctoral training at UCLA. Helena Bugacov, a current PhD student in the McMahon Lab and a co-author of the eLife study, is now taking the lead in continuing the project–which has implications far beyond the kidney field, due to the broad role of Wnt throughout the body.

“Understanding how Wnt regulates these two very distinct cell outcomes of self-renewal and differentiation, which is very important for kidney development, is also important for understanding the development of other organs and adult stem cells, as Wnt signaling plays important roles in almost all developmental systems,” said Bugacov. “There is also a lot of attention from cancer researchers, as this process can go awry in cancer. Many therapeutics are trying to target this process.”

She added, “The more we know about things, the better we can inform work on developing human kidney organoid cultures, which can be more readily used to understand problems in human health, regeneration and development.”

###

Additional co-authors of the eLife study include: Albert Kim, Andrew Ransick, Xi Chen, and Nils Lindstrom from USC; Aaron Brown from the Maine Medical Center Research Institute; and Bin Li and Bing Ren from the University of California, San Diego. The research was supported by federal funding from the National Institute of Diabetes and Digestive and Kidney Diseases (grant number R01 DK054364).

https://stemcell.keck.usc.edu/usc-stem-cell-study-identifies-molecular-switch-that-turns-precursors-into-kidney-cells/

Coinsmart. Beste Bitcoin-Börse in Europa
Source: https://bioengineer.org/usc-stem-cell-study-identifies-molecular-switch-that-turns-precursors-into-kidney-cells/

Continue Reading

Bioengineer

Evidence of Antarctic glacier’s tipping point confirmed for first time

Avatar

Published

on

Researchers have confirmed for the first time that Pine Island Glacier in West Antarctica could cross tipping points, leading to a rapid and irreversible retreat which would have significant consequences for global sea level

Researchers have confirmed for the first time that Pine Island Glacier in West Antarctica could cross tipping points, leading to a rapid and irreversible retreat which would have significant consequences for global sea level.

Pine Island Glacier is a region of fast-flowing ice draining an area of West Antarctica approximately two thirds the size of the UK. The glacier is a particular cause for concern as it is losing more ice than any other glacier in Antarctica.

Currently, Pine Island Glacier together with its neighbouring Thwaites glacier are responsible for about 10% of the ongoing increase in global sea level.

Scientists have argued for some time that this region of Antarctica could reach a tipping point and undergo an irreversible retreat from which it could not recover. Such a retreat, once started, could lead to the collapse of the entire West Antarctic Ice Sheet, which contains enough ice to raise global sea level by over three metres.

While the general possibility of such a tipping point within ice sheets has been raised before, showing that Pine Island Glacier has the potential to enter unstable retreat is a very different question.

Now, researchers from Northumbria University have shown, for the first time, that this is indeed the case.

Their findings are published in leading journal, The Cryosphere.

Using a state-of-the-art ice flow model developed by Northumbria’s glaciology research group, the team have developed methods that allow tipping points within ice sheets to be identified.

For Pine Island Glacier, their study shows that the glacier has at least three distinct tipping points. The third and final event, triggered by ocean temperatures increasing by 1.2C, leads to an irreversible retreat of the entire glacier.

The researchers say that long-term warming and shoaling trends in Circumpolar Deep Water, in combination with changing wind patterns in the Amundsen Sea, could expose Pine Island Glacier’s ice shelf to warmer waters for longer periods of time, making temperature changes of this magnitude increasingly likely.

The lead author of the study, Dr Sebastian Rosier, is a Vice-Chancellor’s Research Fellow in Northumbria’s Department of Geography and Environmental Sciences. He specialises in the modelling processes controlling ice flow in Antarctica with the goal of understanding how the continent will contribute to future sea level rise.

Dr Rosier is a member of the University’s glaciology research group, led by Professor Hilmar Gudmundsson, which is currently working on a major £4million study to investigate if climate change will drive the Antarctic Ice Sheet towards a tipping point.

Dr Rosier explained: “The potential for this region to cross a tipping point has been raised in the past, but our study is the first to confirm that Pine Island Glacier does indeed cross these critical thresholds.

“Many different computer simulations around the world are attempting to quantify how a changing climate could affect the West Antarctic Ice Sheet but identifying whether a period of retreat in these models is a tipping point is challenging.

“However, it is a crucial question and the methodology we use in this new study makes it much easier to identify potential future tipping points.”

Hilmar Gudmundsson, Professor of Glaciology and Extreme Environments worked with Dr Rosier on the study. He added: “The possibility of Pine Island Glacier entering an unstable retreat has been raised before but this is the first time that this possibility is rigorously established and quantified.

“This is a major forward step in our understanding of the dynamics of this area and I’m thrilled that we have now been able to finally provide firm answers to this important question.

“But the findings of this study also concern me. Should the glacier enter unstable irreversible retreat, the impact on sea level could be measured in metres, and as this study shows, once the retreat starts it might be impossible to halt it.”

###

The paper, The tipping points and early warning indicators for Pine island Glacier, West Antarctica, is now available to view in The Cryosphere.

Northumbria is fast becoming the UK’s leading university for research into Antarctic and extreme environments.

As well as the £4m tipping points study, known as TiPPACCs, Northumbria is also the only UK university to play a part in two projects in the £20m International Thwaites Glacier Collaboration – the largest joint project undertaken by the UK and USA in Antarctica for more than 70 years – where Northumbria is leading the PROPHET and GHC projects. This particular study was funded through both TiPPACCs and PROPHET.

Coinsmart. Beste Bitcoin-Börse in Europa
Source: https://bioengineer.org/evidence-of-antarctic-glaciers-tipping-point-confirmed-for-first-time/

Continue Reading

Bioengineer

Diversity can prevent failures in large power grids

Avatar

Published

on

Integrated power grids offer benefits, but also pose challenges best addressed by leveraging differences

The recent power outages in Texas brought attention to its power grid being separated from the rest of the country. While it is not immediately clear whether integration with other parts of the national grid would have completely eliminated the need for rolling outages, the state’s inability to import significant amounts of electricity was decisive in the blackout.

A larger power grid has perks, but also has perils that researchers at Northwestern University are hoping to address to expedite integration and improvements to the system.

An obvious challenge in larger grids is that failures can propagate further — in the case of Texas, across state lines. Another is that all power generators need to be kept synchronized to a common frequency in order to transmit energy. The U.S. is served by three “separate” grids: The Eastern interconnection, the Western interconnection and the Texas interconnection, interlinked only by direct-current power lines. Any persistent deviation in frequencies within a region can lead to an outage.

As a result, researchers are searching for ways to stabilize the grid by looking for methods to mitigate deviations in the power generators’ frequencies.

The new Northwestern research shows that counter to assumptions held by some, there are stability benefits to heterogeneity in the power grid. Examining several power grids across the U.S. and Europe, a team led by Northwestern physicist Adilson Motter recently reported that generators operating on different frequencies return to their normal state more quickly when they are damped by “breakers” at different rates than generators around them.

The paper was published March 5 in the journal Nature Communications.

Motter is the Charles E. and Emma H. Morrison Professor in the department of physics and astronomy in the Weinberg College of Arts and Sciences. His research focuses on nonlinear phenomena in complex systems and networks.

Motter compares power grids to a choir: “It’s a little bit like a choir without a conductor. The generators have to listen to others and speak in sync. They react and respond to each other’s frequencies.”

Listen to an out-of-whack frequency, and the result can be a failure. Given the interconnected makeup of the system, a failure can propagate across the network. Historically, these malfunctions have been prevented by using active controllers. However, failures are often caused precisely by control and equipment errors. This points to a need to build additional stability within the design of the system. To achieve that, the team looked into leveraging the natural heterogeneities of the grid.

When the frequencies of the power generators are moved away from the synchronous state, they can swing around for a long time and even become more erratic. To mitigate these fluctuations, they came up with something akin to a door mechanism used to close a door the fastest, but without slamming.

“Mathematically, the problem of damping frequency deviations in a power generator is analogous to the problem of optimally damping a door to get it to close the fastest, which has a known solution in the case of a single door,” Motter said. “But it’s not a single door in this analogy. It’s a network of many doors that are coupled with each other, if you can imagine the doors as power generators.”

When creating an “optimal damping” effect, they discovered that rather than making each damper identical, damping the power generators in a way that is suitably different from each other can further optimize their ability to synchronize to the same frequency as quickly as possible. That is, suitably heterogenous damping across the network can lead to improved stability in the power grids studied by the team.

This discovery could have implications for future grid design as developers work to optimize technology and in considerations to further integrate now separated networks.

###

The paper is titled “Asymmetry underlies stability in power grids.” Additional co-authors include former postdoctoral researcher Ferenc Molnar and research professor Takashi Nishikawa.

The study was supported by Northwestern University’s Finite Earth Initiative (supported by Leslie and Mac McQuown) and ARPA-E Award No. DE-AR0000702 and also benefited from logistical support from the Northwestern Institute for Sustainability and Energy.

https://news.northwestern.edu/stories/2021/04/diversity-can-prevent-failures-in-large-power-grids/

Coinsmart. Beste Bitcoin-Börse in Europa
Source: https://bioengineer.org/diversity-can-prevent-failures-in-large-power-grids/

Continue Reading

Bioengineer

How Fortnite and Zelda can up your surgical game (no joke!)

Avatar

Published

on

Scalpel? Check. Gaming console? Check. Study finds video games can be a new tool on surgical tray for medical students

Video games offer students obvious respite from the stresses of studies and, now, a study from a University of Ottawa medical student has found they could benefit surgical skills training.

Arnav Gupta carries a heavy course load as a third-year student in the Faculty of Medicine, so winding down with a game of Legend of Zelda always provides relief from the rigorous of study. But Zelda may be helping improve his surgical education, too, as Gupta and a team of researchers from the University of Toronto found in a paper they recently published in the medical journal Surgery.

“Given the limited availability of simulators and the high accessibility of video games, medical students interested in surgical specialties should know that video games may be a valuable adjunct training for enhancing their medical education, especially in surgical specialties where it can be critical,” says Gupta, whose findings were deciphered from a systematic review of 16 studies involving 575 participants.

“Particularly, in robotic surgery, being a video gamer was associated with improvements in time to completion, economy of motion, and overall performance. In laparoscopic surgery, video games-based training was associated with improvement in duration on certain tasks, economy of motion, accuracy, and overall performance,” explains Gupta, who has been a gamer since age 8.

This study builds on past reviews and is the first to focus on a specific medical student population where this style of training could be feasibly implemented. Their timely study found some of the most beneficial games for students of robotic surgery and laparoscopy were: Super Monkey Ball, Half Life, Rocket League and Underground. Underground is purposely designed to assist medical students with their robotic surgery training via a video game console.

“While video games can never replace the value of first-hand experience, they do have merit as an adjunctive tool, especially when attempting to replicate important movements to surgery. For example, first-person shooting games require you to translate three dimensional motions onto a two-dimensional screen, which is like the concept of laparoscopic surgery,” says Gupta, whose studies are focused on surgery in ophthalmology, which makes games like Resident Evil 4 or Trauma Center: New Blood fitted for his own ambitions.

“I’m not joking when I say that games such as Fortnite have the potential to enhance those necessary movements, providing stronger motivational components and in a low stakes environment.”

Reports suggest 55 percent of university students are gamers and enjoy proficiency with video consoles. Yet, many medical students don’t admit to owning and using a gaming console.

“I think there definitely is some ambivalence towards video games in medicine,” says Gupta, who is also a fan of Witcher 3. “Given how accessible games have become and how video game technology is advancing, video games definitely are an easy go-to for the students who do love them in some capacity. The hope is that maybe this study can inspire someone to take advantage of video games’ unique capabilities, reduce the general ambivalence towards it, and develop some fun ways to let students engage with surgical education.”

###

https://media.uottawa.ca/news/how-fortnite-and-zelda-can-your-surgical-game-no-joke

Coinsmart. Beste Bitcoin-Börse in Europa
Source: https://bioengineer.org/how-fortnite-and-zelda-can-up-your-surgical-game-no-joke/

Continue Reading
Esports2 days ago

chessbae removed as moderator from Chess.com amid drama

Esports4 days ago

Dota 2 Dawnbreaker Hero Guide

Esports3 days ago

Why did Twitch ban the word “obese” from its predictions?

Esports4 days ago

Dallas Empire escape with a win against Minnesota at the Stage 2 Major

Esports4 days ago

A detailed look at Dawnbreaker, Dota 2’s first new carry in four years

Esports5 days ago

Dota 2 new hero: A list of possible suspects

Esports1 day ago

Hikaru Nakamura drops chessbae, apologizes for YouTube strike

Esports4 days ago

Dota 2: Patch 7.29 Analysis Of Top Changes

Esports1 day ago

DreamHack Online Open Ft. Fortnite April Edition – How To Register, Format, Dates, Prize Pool & More

Esports3 days ago

Dota 2: Team Nigma Completes Dota 2 Roster With iLTW

Fintech2 days ago

Australia’s Peppermint Innovation signs agreement with the Philippine’s leading micro-financial services provider

Esports5 days ago

Apex Legends tier list: the best legends to use in Season 8

Blockchain5 days ago

Krypto-News Roundup 9. April

Esports4 days ago

xQc calls ZULUL supporters racist for wanting Twitch emote back

Esports4 days ago

Dota 2 patch 7.29: Impact of Outposts, Water Runes and other major general gameplay changes

Esports4 days ago

Geely Holdings’ LYNK&CO Sponsors LNG Esports’ LPL Team

Esports3 days ago

Fortnite: Blatant Cheater Finishes Second In A Solo Cash Cup

Esports4 days ago

Mission Control, Tripleclix Team with Hollister for Fortnite Event/Product Launch

Blockchain4 days ago

Revolut integriert 11 neue Kryptowährungen

Esports3 days ago

Hikaru Nakamura accused of striking Eric Hansen’s YouTube channel

Trending