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Overall survival is similar for patients receiving CT-based or minimal follow-up after surgical resection of non-small-cell lung cancer – 2 Minute…

Posted: August 30, 2022 at 2:32 am

1. There was no difference in median overall survival between minimal follow-up and CT-based follow-up groups.

2. Disease-free survival was not significantly different between minimal follow-up and CT-based follow-up groups.

Evidence Rating Level: 1 (Excellent)

Study Rundown: For patients with non-small-cell lung cancer (NSCLC) who meet the guidelines, the standard of care is to receive surgical resection of their tumour(s). Regardless, there is a high risk of recurrent disease and lung cancer is the primary cause of death in this population. This randomized controlled study aimed to compare the outcomes between CT-based surveillance and minimal follow-up measures post-surgical resection of NSCLC tumours. The primary outcome of interest was overall survival (OS) and secondary outcomes included disease-free survival. In the minimal follow-up group, 44.9% of patients died, compared to 42.0% of those in the CT-based group. There was no significant difference between the groups for median OS; 8.5 years for the minimal follow-up group and 10.3 years for the CT-based group. There was similarly no difference statistically between the groups for disease-free survival. There were 404 recurrences, second primary cancers, or deaths in the minimal follow-up group, compared to 440 in the CT-based group. Limitations to this study include the high proportion of patients who had stage I and I NSCLC that contributed to less OS events and reduced power of the study. Additionally, the study excluded patients who had received wedge resections, so applications of the results from this study should be considered cautiously in those patient groups. Overall, the results from this study provide evidence that the inclusion of CT scan for follow-up post surgical intervention for non-small-cell lung cancer does not improve overall survival as compared to minimal follow-up strategies that include chest x-ray.

Click to read the study in The Lancet Oncology

Relevant Reading: Let us not underestimate the long-term risk of SPLC after surgical resection of NSCLC

In-Depth [ randomized controlled trial]: This open-label, phase 3, randomized controlled trial was conducted out of 122 healthcare centres in France. The study enrolled 1,775 adult patients to receive one of two follow-up options; 888 were allocated to the minimal follow-up group, consisting of chest x-ray, and 887 were allocated to receive CT-based follow-up, which included chest x-rays, thoraco-abdominal contrast-enhanced CT scan, and fibre-optic bronchoscopy. Patients had received their surgical resections within the previous 8 weeks of enrollment. The median OS for patients in the minimal follow-up group was 8.5 years (95% confidence interval (CI), 7.4-9.6 years) compared to 10.3 years (95% CI, 8.1 not reached) for patients in the CT-based group (hazard ratio (HR) 0.95, 95% CI, 0.83-1.10). There were also no differences between 3- and 5-year OS rates between the groups. Three year OS for the minimal follow-up group was 77.2% (95% CI, 74.5-80) vs 76.1% (95% CI, 73.3-78.9) for the CT-based group. The median OS after 5 years for the minimal follow-up group was 66.8% (95% CI, 63.7-69.0) vs 65.8% (95% CI, 62.6-68.9) for the CT-based group. There was no significant difference between groups for disease-free survival; 4.9 years (95% CI, 4.3-not reached) in the CT-based group compared to median not reached (95% CI not reached-not reached) in the minimal follow-up group (adjusted HR 1.14; 95% CI, 0.99-1.30).

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Overall survival is similar for patients receiving CT-based or minimal follow-up after surgical resection of non-small-cell lung cancer - 2 Minute...

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NSF Grant to Aid OSU Researchers Developing Treatment for Canine Cancer – The Corvallis Advocate

Posted: August 30, 2022 at 2:32 am

Researchers at Oregon State Universitys Carlson College of Veterinary Medicine are moving forward with developing a specialized antibody treatment for dogs with cancer, thanks to a recent grant from the National Science Foundation.

The research team plans for this treatment to be a gentler, more targeted and effective option for addressing canine cancer, just as immunotherapeutics are used in human cancer patients.

Its not a drug like chemotherapy where its a toxin. Youre actually recruiting the bodys natural immune response for clearing out transformed cells for instance, a tumor and then it kills them, said Dan Mourich, senior OSU research associate and the molecular biologist on the research team.

Currently, veterinarians can use radiation, chemotherapy and surgery to tackle canine cancer, but these typically involve frequent trips to veterinary hospitals where the dog must be sedated, and can take a physical and emotional toll on both pets and owners, Mourich said.

In contrast, the OSU therapy will be administered daily in the home as a small subcutaneous injection, similar to how pet owners with diabetic animals inject them with insulin.

The research team includes Dr. Chris Cebra, camelid expert and the chair of the clinical sciences department in OSUs veterinary college; former OSU professor and clinical veterinary oncologist Dr. Shay Bracha, who recently joined the Ohio State University Veterinary Medical Center; and Carl Ruby, veterinary pharmacology instructor at OSU.

The treatment was developed with help from some unlikely collaborators: the llamas and alpacas that OSU owns, which are both members of the camelid family. Researchers injected them with a protein found in canine tumors, which provoked the alpacas immune system to respond by creating a specific antibody.

The researchers then screened a genetic library of the resultant antibodies to determine which were most effective at binding and blocking tumors from interacting with that protein on dogs cytotoxic killer T-cells, the cells responsible for fighting cancer.

Killer T-cells are essentially the smallest scalpel you can have, Mourich said. They identify the cancer cell, remove that cell and leave healthy tissue alone. Theyre so precise that you can utilize them to go and eliminate all the little pieces of tumor around the body.

Camelids can produce a specialized smaller type of antibodies referred to as nanobodies.

Their smaller structure allows nanobodies to penetrate tissues that arent accessible to larger antibodies, and also makes them easier to produce and store for long periods of time, which reduces the overall cost.

The $250,000 grant from the National Science Foundation Partnership for Innovation will allow the researchers to develop their clinical candidate and establish a production method for the treatment, after which they can hold a clinical trial to test its effectiveness.

The efficacy of immune-based therapeutics has already been tested in the human clinic for cancer and other diseases, but were not going to take human drugs and try to adapt them to the dog, Mourich said. Were going to make the dog drug that does the same thing.

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NSF Grant to Aid OSU Researchers Developing Treatment for Canine Cancer - The Corvallis Advocate

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Molecular prevalence and genetic diversity of Bartonella spp. in stray cats of zmir, Turkey – Parasites & Vectors – Parasites & Vectors

Posted: August 30, 2022 at 2:27 am

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Molecular prevalence and genetic diversity of Bartonella spp. in stray cats of zmir, Turkey - Parasites & Vectors - Parasites & Vectors

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How light and temperature work together to affect plant growth – EurekAlert

Posted: August 30, 2022 at 2:27 am

image:Arabidopsis thaliana cells (top) and seedlings (bottom) in different light and temperature conditions. The seedlings pictured on the far right show accelerated growth in response to shade and warm temperatures. view more

Credit: Salk Institute courtesy of Nature Communications

LA JOLLA(August 29, 2022) Plants lengthen and bend to secure access to sunlight. Despite observing this phenomenon for centuries, scientists do not fully understand it. Now, Salk scientists have discovered that two plant factorsthe protein PIF7 and the growth hormone auxinare the triggers that accelerate growth when plants are shaded by canopy and exposed to warm temperatures at the same time.

The findings, published in Nature Communications on August 29, 2022, will help scientists predict how plants will respond to climate changeand increase crop productivity despite the yield-harming global temperature rise.

Right now, we grow crops in certain densities, but our findings indicate that we will need to lower these densities to optimize growth as our climate changes, says senior author Professor Joanne Chory, director of Salks Plant Molecular and Cellular Biology Laboratory and Howard Hughes Medical Institute investigator. Understanding the molecular basis of how plants respond to light and temperature will allow us to fine-tune crop density in a specific way that leads to the best yields.

During sprouting, seedlings rapidly elongate their stems to break through the covering soil to capture sunlight as fast as possible. Normally, the stem slows down its growth after exposure to sunlight. But the stem can lengthen rapidly again if the plant is competing with surrounding plants for sunlight, or in response to warm temperatures to increase distance between the hot ground and the plants leaves. While both environmental conditionscanopy shade and warm temperaturesinduce stem growth, they also reduce yield.

In this study, the scientists compared plants growing in canopy shade and warm temperatures at the same timea condition that mimics high crop density and climate change. The scientists used the model plant Arabidopsis thaliana, as well as tomato and a close relative of tobacco, because they were interested to see if all three plant species were affected similarly by this environmental condition.

Across all three species, the team found that the plants grew extremely tall when simultaneously trying to avoid the shade created by neighboring plants and being exposed to warmer temperatures. On a molecular level, the researchers discovered that transcription factor PIF7, a protein that helps turn genes on and off, was the dominant player driving the increased rapid growth. They also found that the growth hormone auxin increased when the crops detected neighboring plants, which fostered growth in response to simultaneous warmer temperatures. This synergistic PIF7-auxin pathway allowed the plants to respond to their environments and adapt to seek the best growing conditions.

A related transcription factor, PIF4, also stimulated stem elongation during warm temperatures. However, when shade and increased temperatures were combined, this factor no longer played an important role.

We were surprised to find that PIF4 did not play a major role because prior studies have shown the importance of this factor in related growth situations, says first author Yogev Burko, a Salk staff researcher and assistant professor at the Agriculture Research Organization at the Volcani Institute in Israel. The fact that PIF7 is the dominant driving force behind this plant growth was a real surprise. With this new knowledge, we hope to fine-tune this growth response in different crop plants to help them adapt to climate change.

The researchers believe that there is another player, yet to be discovered, that is boosting the effect of PIF7 and auxin. They hope to explore this unknown factor in future studies. Burkos lab will also be studying how this pathway can be optimized in crop plants.

Global temperatures are increasing, so we need food crops that can thrive in these new conditions, says Chory, who co-directs Salks Harnessing Plants Initiative and holds the Howard H. and Maryam R. Newman Chair in Plant Biology. Weve identified key factors that regulate plant growth during warm temperatures, which will help us to develop better-performing crops to feed future generations.

Other authors included Bjrn Christopher Willige and Adam Seluzicki of Salk; Ondej Novk of Palacky University and Institute of Experimental Botany at The Czech Academy of Sciences; and Karin Ljung of the Swedish University of Agricultural Sciences.

The work was funded by the National Institutes of Health (5R35GM122604-05_05), Howard Hughes Medical Institute, Knut and Alice Wallenberg Foundation (KAW 2016.0341 and KAW 2016.0352), Swedish Governmental Agency for Innovation Systems (VINNOVA 2016-00504), EMBO Fellowships (ALTF 785-2013 and ALTF 1514-2012), BARD (FI-488-13), Human Frontier Science Program (LT000222/2013-L) and Salks Pioneer Postdoctoral Endowment Fund.

About the Salk Institute for Biological Studies:

Every cure has a starting point. The Salk Institute embodies Jonas Salks mission to dare to make dreams into reality. Its internationally renowned and award-winning scientists explore the very foundations of life, seeking new understandings in neuroscience, genetics, immunology, plant biology and more. The Institute is an independent nonprofit organization and architectural landmark: small by choice, intimate by nature and fearless in the face of any challenge. Be it cancer or Alzheimers, aging or diabetes, Salk is where cures begin. Learn more at salk.edu.

Nature Communications

PIF7 is a master regulator of thermomorphogenesis in shade

29-Aug-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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Ancient Mummies’ Lousy View of the Past – The Scientist

Posted: August 30, 2022 at 2:27 am

When researchers first discovered a louse egg on an ancient human hair, they realized that head lice have itched human scalps for more than 10,000 years.1 Alejandra Perotti, senior lecturer in the biological sciences department at the University of Reading, recently discovered an unexpected benefit of these pesky insects. In a study published in Molecular Biology and Evolution, Perotti showed that the glue that attaches louse eggs, or nits, to hair preserved human DNA for more than 2,000 years, enabling her team to analyze mummies genetics without disturbing their remains.2 She used this nondestructive technique to track the migratory paths of ancient humans through South America.

Researchers discover ancient human migratory patterns by analyzing DNA from a lice-infested mummy

Perotti, an invertebrate biologist who started collecting bugs at the age of two, visits archaeological sites across South America to study louse evolution. She recently collected nits from 2,000-year-old Argentinian mummies. Nits are incredibly difficult to remove because lice encase them in cement-like cylinders around hair. Because these casings contain crosslinked proteins and lipids that form strong, waterproof tubes, they protect louse eggs until they hatch.3,4 The cement is harder than the industrial gorilla glue. The lipids will protect anything inside; it will not get dry or humid, Perotti said. For archaeologists, louse glue has an added preservative perk that freezes nits in time. You find remains of lice in 95 percent of archaeological sites because we were very lousy in the past. It is very rare to find the insect; you [typically] find the nits, she added.

When Perotti examined the ancient Argentinian hairs, she couldnt believe her eyes. We had collected them (nit casings) to study the evolution of the lice, recounts Perotti. I checked them with these [fluorescent microscopy] techniques that we developed and started seeing that there was [human] DNA trapped in the glue!

The history of the parasite is a mirror of the history of the hostAlejandra Perotti, University of Reading

Not only could Perottis team see human nuclei, but they also managed to extract high-quality DNA from them.2 The scientists collected as much DNA from the nuclei trapped in six nit casings as they could from the same individuals entire tooth.3 It is a promising tool because it [identifies] a new source of well-conserved DNA when there is no other source, said Oleg Mediannikov, an evolutionary biologist at the Aix-Marseille University in France, who was not involved in the study. If well-conserved, even very old specimens may be studied using these techniques because this paper [shows that] louse cement may preserve DNA better than bones or teeth. However, Mediannikov cautioned that scientists should take every possible measure to prevent contamination when collecting and processing ancient samples due to modern sequencing methods sensitivity.

Louse cement glues human nuclei in place and preserves them in time

When analyzing the ancient Argentinian mummies DNA extracted from the nit cement, Perottis team gleaned some important insights into how ancient humans migrated and settled in South America. Scientists previously thought that ancient humans migrated from North Americas Pacific Coast and spread west- and eastward as they traveled into South America. According to this logic, central-west Argentinians would be related to the ancestors of the Incas. [Our results showed] that they traveled a completely different road about 2,000 years ago. They came from the northeast of the Amazon and walked south to cross into what is now Argentina, Perotti added. An unexpected migratory path.

Perotti next analyzed louse DNA from the eggs to test whether they told the same migratory story as that of the humans whose DNA they helped preserve. When she compared the ancient Argentinian louse DNA to their database, she found that they most closely matched lice from the north of the Amazon. So, they tell the same story; the history of the parasite is a mirror of the history of the host, Perotti said. It's really interesting, because this technique will allow us to study a lot of ancient remains without destroying them. You just need a few hairs.

References

1. A. Arajo et al., Ten thousand years of head lice infestation, Parasitol Today, 16(7):269, 2000.

2. M.W. Pedersen et al., Ancient human genomes and environmental DNA from the cement attaching 2,000 year-old head lice nits, Mol Biol Evol, msab351, 2021.

3. C.N. Burkhart et al., "Molecular composition of the louse sheath, J Parasitol, 85(3):559-61, 1999.

4. J.K. Park et al., "Characterization of the human head louse nit sheath reveals proteins with adhesive property that show no resemblance to known proteins, Sci Rep, 9(1):48, 2019.

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Meet the UNC Pembroke professor leading research on Alzheimers disease – The Robesonian

Posted: August 30, 2022 at 2:27 am

PEMBROKE Ben Bahr, a professor of molecular biology and biochemistry at the University of North Carolina at Pembroke since 2009, is a renowned researcher of dementia, including Alzheimers disease.

Scientists have been trying to determine ways to prevent and slow the onset of Alzheimers, which affects more than 5 million people in the United States.

Bahr has won several awards. In 2017, he became the first UNCP professor to receive the Oliver Max Gardner Award for his research the highest honor given by the UNC Board of Governors.

The Border Belt Independent asked Bahr a series of questions about his work and life in southeastern North Carolina. His responses have been edited for brevity and clarity.

Q: How did you get into Alzheimers research?

A: I was from California, and I went to University of California, Santa Barbara. I wanted a really good aquatic biology program. When I took my first marine biology course, it bored me to tears. Then I discovered courses like genetics and cell biology, which is really where I learned my passion for how cells work. I knocked on a lot of doors of professors to see who had room for an undergraduate who would make mistakes in the lab. I learned a lot, and turns out I was helping to identify targets for Alzheimers disease and other brain diseases. So I stayed in Santa Barbara and got my Ph.D. in chemistry.

Q: What have you found in your research?

A: Alzheimers disease is probably the most complicated and hair-pulling disease. Every time we think weve gotten close, somebody else discovers something and we say, Wait a minute, we have all that wrong. The big amyloid plaques that people see, everyone thought that was the disease. Turns out its the aftermath. Its a protein accumulation disease, or what we call a garbage accumulation disease. All the nerve cells and other cells are having trouble getting rid of material thats accumulating inside them.

We really needed to look at why these accumulation events were occurring and how we could get rid of them. It turns out every one of the cells in your brain and your whole body has little tiny things inside called lysosomes. Consider them like garbage disposals. My group discovered that there are self-repair mechanisms that try to get rid of those protein accumulation events. And I discovered through lysosomes that, as we age, our little garbage disposals dont work so well anymore. Now there are companies and even Harvard professors that focus on how we find drugs and other therapies to make lysosomes and the other protein-clearing machinery work hard.

I also was the first to get UNCP to handle patent law in 2014. Its well known that exercise and a really good diet helps reduce your risk of dementia. So we looked at ways that we could combine natural products. We tested to see what its doing to the lysosomes, and then we mixed this natural product into rat food. That natural product made the animals perform better on memory tests. We just want to publish the work and try to get a company interested in manufacturing and distributing the drug.

Q: Why come to Pembroke for your research?

A: I followed the direction of where the cool work was going. We decided to look for a different place, mostly because the wife was getting sick of the snow at the University of Connecticut. In Pembroke, they gave me a nice research space. They gave me the ability to work with lots of students. My biggest thrill is watching students catch that bug of research finding out they did something in a lab that no one else has done before. Theyve also allowed me to train students from all over the world. Ive actually worked with people from 30 different countries.

Q: How have you helped dementia research expand in the state?

A: With a big five-year grant from the National Institute of Health, Duke University and UNC-Chapel Hill came together to form the Azheimers Disease Research Center. There are only 33 in the whole country, and North Carolina is now one of the few states with more than one center. (Wake Forest University in Winston-Salem also has a center). My job is to help up-and-coming young scientists whether theyre undergraduates, high school students, or just got their Ph.D. get training or at least exposure to the kind of work being done.

Twelve years ago, UNC Pembroke would have never thought that they would be connected to Duke and Chapel Hill to be part of this. But I kept pushing our biotech center to have enough research going on and get enough exposure that they came to us. I was just trying to raise up UNC Pembroke, so hopefully Im doing my job. Now Ive lost count of how many students have come through my lab and gone on to get their Ph.D. Theyre now working in places like Rutgers and Wake Forest. Its very exciting to see them come back and give talks to inspire students.

Q: What advice do you have for students interested in dementia research?

A: Dont be scared to walk in a laboratory and try. I cant tell you how many times a student has said, I cant do math, so I cant be in a lab. I tell them to just come in and practice with the math. Well see how your brain works, and Ill figure out a way to get you to understand.

You also have to fail on certain things. Youre going to make mistakes. But as soon as students are not scared of making a mistake, theyll come in and start working.

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‘Gray blanket’ over Australia: Genetics may have aided European rabbit invasion of continent in 1859, says study – Down To Earth Magazine

Posted: August 30, 2022 at 2:27 am

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Genetics may have given European rabbits an edge and helped them colonise Australia from the east to the west coast starting 1859, a new study released August 22, 2022, has said.

The European rabbit (Oryctolagus cuniculus) was first introduced to Australia when the First Fleet, a flotilla of British ships, landed in Sydney Harbour in 1788 with the intention of establishing a penal settlement. Five rabbits on board were released in the settlement.

Between 1788 and 1859, there were over 90 importations of rabbits into mainland Australia. But the animals did not spread across the continent.

Then, according to historians, an English settler named Thomas Austin asked his brother in Somerset, southwest England to send him some rabbits so that they could multiply and be hunted.

On October 6, 1859, Thomass brother James sent on board the ship Lightning a consignment of domestic and wild rabbits caught around the family property in Baltonsborough, southwest England.

On Christmas Day of that same year, the consignment arrived in Melbourne with 24 rabbits on board. These rabbits were taken to the property of Thomas Austin in Barwon Park, near Geelong in Victoria, the study noted.

By 1862, the rabbits sent by James had multiplied and numbered in the thousands. Rabbits spread across the entire continent within 50 years of 1859, at a rate of 100 km per year. This is considered the fastest colonisation rate for an introduced mammal ever recorded.

The researchersfrom the University of Cambridge and CIBIO Institute in Portugal studied historical records alongside new genetic data collected from 187 European rabbits mostly wild-caught across Australia, Tasmania, New Zealand, Britain and France between 1865 and 2018.

They wanted to know:

We managed to trace the ancestry of Australias invasive population right back to the southwest of England, where Austins family collected the rabbits in 1859, Joel Alves, lead author and a researcher at the University of Oxford and CIBIO Institute, was quoted as saying in a statement.

Our findings show that despite the numerous introductions across Australia, it was a single batch of English rabbits that triggered this devastating biological invasion, the effects of which are still being felt today, he added.

So what was special about these rabbits? Biological invasions are often aided by favourable ecological factors. As Europeans spread across Australia, they cleared the land for pastoral purposes and also hunted down native carnivores (such as the dingo).

But the researchers theorised that these factors should have also aided rabbits brought in the over 90 importations before 1859. Hence, they could not have helped the invasion.

The researchers then found that as Austins rabbits moved further away from Barwon Park, genetic diversity declined and rare genetic variants which occur in rapidly growing populations became more frequent.

Senior author Francis Jiggins from Cambridges Department of Genetics was quoted as saying: There are numerous traits that could make feral domestic rabbits poorly adapted to survive in the wild but it is possible that they lacked the genetic variation required to adapt to Australias arid and semi-arid climate.

To cope with this, Australias rabbits have evolved changes in body shape to help control their temperature.

So it is possible that Thomas Austins wild rabbits and their offspring, had a genetic advantage when it came to adapting to these conditions, Jiggins added.

Genetic mutations do give organismsa selective adaptiveness to survive in adverse environments / circumstances. These researchers have found some unique genetic signature in the rabbitsthrough which they would havegained invasiveness, K Thangaraj from the Centre for Cellular and Molecular Biology, Hyderabad, told Down To Earth.

Rabbits breed very quickly. In ecology, there is R and K Selective Strategy of reproduction to increase numbers.

Rabbits usually use the R Selective Strategy where the mother gives birth to a large number of offspring multiple times in a year. This helps increase their numbers. Other lagomorphs such as talus-dwelling pikas in the Himalayas adopt a K Selective strategy and do not give birth to more than two to three juveniles annually, Sabuj Bhattacharya, scientist and research ethics and integrity officer, INSTEM, Bengaluru, told DTE.

Rabbits are one of the major invasive species in Australia threatening native flora and fauna and costing the agricultural sector an estimated $200 million per year.

The study, titled A single introduction of wild rabbits triggered the biological invasion of Australia was published in PNAS.

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Massive Genome Study Informs the Biology of Reading and Language – Neuroscience News

Posted: August 30, 2022 at 2:27 am

Summary: A new genome-wide analysis of five reading and language based skills reveals a shared biological basis contributing to these skills.

Source: Max Planck Institute

What is the biological basis of our uniquely human capacity to speak, read and write?

A genome-wide analysis of five reading- and language-based skills in many thousands of people, published inPNAS, identifies shared biology contributing to these traits.

Findings from previous smaller genetic studies were not replicated.

The international teamled by scientists from the Max Planck Institute for Psycholinguistics and the Donders Institute in Nijmegen, the Netherlandsalso uncovered genetic links with language-related brain areas.

The use of spoken and written language is a fundamental human capacity.

We have known for many years that individual differences in the relevant skills must be influenced by variations in our genomes, says first author Else Eising from the Max Planck Institute for Psycholinguistics (MPI) in Nijmegen.

This is the first time that datasets of tens of thousands of participants have been gathered together to really reliably investigate the many DNA variants that contribute.

The study represents the first output of the GenLang consortium, an international network of leading researchers interested in the genetics of speech and language. The consortium was founded by MPI director Simon Fisher, together with colleagues from multiple different countries.

The scientists were able to combine data from 22 different cohorts collected worldwide. While most participants were English speakers, some had other mother tongues (Dutch, Spanish, German, Finnish, French and Hungarian).

The large sample sizesup to 34,000 individuals per traitare suitable to investigate the contributions of several million common DNA variants, each with tiny effect size, via methods that have been successfully applied to biomedical traits.

Reading and language skills

For each cohort, researchers had previously tested participants on a range of different reading- and language-related skills. Three of these skills involved reading aloud of words (horse) or pronounceable nonwords (chove) and spelling.

A fourth skill was phoneme awareness, the ability to distinguish and manipulatespeech soundsin words, assessed by asking people to delete sounds (say stop without s) or to create spoonerisms (Paddington BearBaddington Pear).

Finally, in tests of nonword repetition, people are asked to repeat spoken nonwords of varying lengths and complexity (loddernapish), a task tapping speech perception, verbal short-term memory, and articulation.

DNA was also available for all the cohorts, enabling the GenLang team to carry out a so-called genome-wide association study (GWAS). The team used genetic correlation analyses to investigate whether the DNA variants involved in the five skills overlapped with each otherand with other cognitive and brain imaging traits.

If we can uncover the biological bases of skills involved in speaking and reading, we may learn more about how language evolved in our species, explains Eising.

In addition, we can better understand why there are individual differences in these skills, even in societies where most people receive similar high quality education towards literacy and language.

Reappraising the field

Results of the GenLang study showed that the five reading- and language-related traits are highly related at the genetic level, suggesting shared biological bases. While there was evidence of genetic overlaps with general cognitive ability (both verbal and nonverbal skills), correlations with nonverbal IQ were low.

The team did not replicate earlier findings from much smaller studies. We suspect that quite a few of the previously reported candidate gene associations with reading- and language-related traits in studies with small samples reflect false-positive findings, says Eising.

The researchers identified a genetic link withindividual differencesin the neuroanatomy of a language-related brain area, the left superior temporal sulcus. This brain region is known to be an important player (together with other areas) in the processing of spoken and written language. There was also a genetic link with parts of the DNA that play a regulatory role in the fetal brain.

Nature intertwined with nurture

This research shows the considerable value of team science approaches for understanding molecular genetic contributions to complex human traits like language, concludes Fisher.

The biology of reading- and language-related skills is highly complex. To develop these skills, exposure to language as well as education in reading are essential. Our work illustrates the intertwining of both nature and nurture in the development of language and literacy.

In the future, we hope to build on these efforts with genetically informative datasets covering a broader range of traits relevant forlanguage, for instance including abilities related to grammatical processing.

To more quickly and easily characterize reading andlanguage skillsin large groups of individuals, we will likely need development of tests that can be administered online, and this is a major focus of the GenLang consortium moving forward.

Author: Press OfficeSource: Max Planck InstituteContact: Press Office Max Planck InstituteImage: The image is in the public domain

Original Research: Open access.Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people by Else Eising et al. PNAS

Abstract

Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered.

We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y.

We identified genome-wide significant association with word reading (rs11208009,P= 1.098 108) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability.

Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation.

Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants.

Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.

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People in the News at Gencove, IsoPlexis, HTG Molecular, More – GenomeWeb

Posted: August 30, 2022 at 2:27 am

Gencove: Josh Mann

Gencove announced that Josh Mann has joined as chief commercial officer. He will be responsible for commercialization of Gencove's low-pass whole-genome sequencing software and service platform.

Mann comes to the firm from NeoGenomics Laboratories, where he was director of business development for informatics. He has also held executive roles at Sophia Genetics, TwinStrand Biosciences, and Meso Scale Diagnostics and spent eight years in sales at Qiagen.

Mann holds an MBA from the Julius Maximilians University of Wrzburg.

IsoPlexis: Nachum Shamir, Siddhartha Kadia, Michael Egholm

IsoPlexis has appointed Nachum "Homi" Shamir to its board of directors as a class II director. Shamir was most recently chairman and CEO of Luminex from 2014 through its sale to DiaSorin in 2021. Previously, Shamir was president and CEO of Given Imaging from 2006 through its sale to Covidien (now Medtronic) in 2014. Shamir currently serves on the board of directors of Strata Skin Sciences and as chairman of the boards of Mediwound and Cactus Acquisition.

IsoPlexis also said that it has accepted the resignations of Siddhartha Kadia and Michael Egholm from its board. IsoPlexis will continue to search for an additional board member and expects to fill this opening prior to its next annual meeting.

HTG Molecular Diagnostics: Thomas Dubensky

HTG Molecular Diagnostics has appointed Thomas Dubensky to its board of directors. Dubensky was the founding CEO of Tempest Therapeutics and currently serves as president of that company. He has also previously served as CSO of Aduro Biotech, Immune Design, and Anza Therapeutics, which he also cofounded.

For additional recent items on executive appointments, promotions, and departures in the omics and molecular diagnostics space, please see the People in the News page on our website.

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Scientists create ‘synthetic’ embryo with brain, beating heart in ‘world first’ – New York Post

Posted: August 30, 2022 at 2:18 am

Scientists have created the miracle of life no male or female necessary.

Using only a mixture of stem cells, University of Cambridge researchers were able to generate a live, synthetic mouse embryo complete with a brain and beating heart in what they deemed a world first.

It could have gone on to develop a spine, intestines and muscle and, eventually, become a live mouse.

Scientists observations from the experiment could provide life-saving insight into the mysteries of human development. For example, the research could help doctors better understand the causes of a miscarriage during the early stages of pregnancy or could inform the study of lab-grown organs that could be used in organ donation and might help address the current donor shortage.

Our mouse embryo model not only develops a brain, but also a beating heart, all the components that go on to make up the body, said lead author and professor, Magdalena Zernicka-Goetz in a statement. Its just unbelievable that weve got this far. This has been the dream of our community for years, and major focus of our work for a decade and finally weve done it.

The Cambridge lab began their experiment with three primary embryonic stem cells, throwing them into a favorable environment and nudging them toward each other, just close enough so they could communicate and encourage the formation of life.

Any and all cells liver cells, skin cells, blood cells, etc. begin as stem cells but soon differentiate in the embryo in order to build a complete living organism. Thats why theyre often referred to as master cells. As the embryo develops, some stem cells will manifest into organs, bones and other tissues, while others multiply into daughter cells that the body stores for later like, say, when we get an injury and need to generate new tissue for healing.

Those three embryonic stem cells had shown the fundamentals of successful development by starting to form a brain, heart and nutritional yolk sac but didnt survive beyond 8days just under half as long as it takes for a mouse to be born, about 20 days.

Scientists are a long way off from creating a living, breathing body entirely inside the lab, and without input from a mother and father, but thats not what this study is about. What Cambridge researchers observed in just over a week could be invaluable, they said, considering the estimated 20% to 50% of pregnanciesend in miscarriage, often before the mother has any idea shes pregnant.

Its an absolutely fantastically complex stage of development, and [our study] has extremely relevant meaning for the rest of our life, said Zernicka-Goetz during a press conference, according to Gizmodo.

If the Cambridge teams methods later prove successful with human tissue, they hope to apply them to creating lab organs for transplantation.

What makes our work so exciting is that the knowledge coming out of it could be used to grow correct synthetic human organs to save lives that are currently lost, said Zernicka-Goetz. It should also be possible to affect and heal adult organs by using the knowledge we have on how they are made.

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