Reviewed by Emily Henderson, B.Sc.Dec 20 2021
Weill Cornell Medicine researchers are using machine learning, a form of artificial intelligence, to shed light on genetic mutations associated with spina bifida. In this birth defect, the neural tube that forms the spinal cord during pregnancy, does not close so that spinal nerves are exposed, resulting in paralysis and high risk of other complications.
Their new study, published online Dec. 16 in PNAS, “brings us closer to being able to provide a precision medicine approach to families who are looking to ensure healthy birth outcomes and the greatest potential for infants affected by spina bifida,” said senior author Dr. Margaret Elizabeth Ross, director of the Center for Neurogenetics and professor of neuroscience in the Feil Family Brain and Mind Research Institute and the Nathan Cummings Professor in Neurology at Weill Cornell Medicine.
Spina bifida is a complex genetic disorder, meaning it’s not generally caused by malfunction in a single gene but usually requires an interplay of several genes that have been altered in relatively small ways. Environmental conditions such as nutrition and the medications and supplements women are taking can also impact fetal health. “The challenge is to understand the role of genetic variation in individual families, coupled with the environmental factors, so we can do our best to ensure a healthy baby,” said Dr. Ross, who also heads the Laboratory of Neurogenetics and Development at Weill Cornell Medicine.
Studying the genes involved in causing spina bifida has been challenging. Mouse models bearing specific gene mutations have helped researchers gain insight into genetic pathways that may be important to neural tube closure, and researchers have looked for alterations to these genetic pathways in humans. However, the problem with this approach to scientific investigation is bias. “You tend to get what you look for,” Dr. Ross said.
In order to find ways to prevent and treat complex genetic disorders, it is necessary to reduce this bias inherent in a “candidate gene search”, that is, to avoid limiting the search for clinically relevant genes to those already implicated in experimental models. One way to look at our genes without a preconceived notion of what causes disease is to search across the complete set of genes in a genome-wide association study (GWAS). A successful GWAS requires thousands of patients to find specific mutations related to a disease. While such large patient collections have been gathered for common complex disorders like autism spectrum that affects 1 in 54 children in the United States, a GWAS approach is really challenging for spina bifida that affects one in every 2,758 live births in the United States or 1,427 babies born each year, according to the Centers for Disease Control and Prevention.
We need to devise new ways for genome-wide investigations of complex genetic conditions that are less common but still impact many families.”
Dr. Margaret Elizabeth Ross, Senior Author
Tackling these obstacles, Dr. Ross and her colleagues, including at Weill Cornell Medicine-Qatar, Baylor College of Medicine, and Stanford Medicine, developed an unbiased approach to study a smaller number of people to find genes that distinguish patients with spina bifida versus individuals without the condition, and apply further systems biology tools to assess relevance of those genes to human spina bifida. The researchers examined the genomes of 149 people with spina bifida and 149 healthy controls with similar genetic backgrounds. Because spina bifida is rare, studying people from around the globe is necessary to obtain enough data, Dr. Ross said. This is why the researchers evaluated genetic information from people in both the United States and Qatar. Using machine learning, in which a computer algorithm sorts through and categorizes data, they were able to determine which genes bearing predicted function-changing variants had the greatest potential for distinguishing cases from controls.
The researchers then analyzed how these genes relate to activities at the molecular level. The pathways that were most highly significant involved glucose and lipid metabolism, meaning the body’s ability to break down and use sugar and fats for cell energy and function. “These processes are relevant to conditions like diabetes and obesity,” Dr. Ross said. Diabetes and obesity during pregnancy are both known risk factors for neural tube defects. “This really gave us a lot of encouragement that our machine learning approach was coming up with clinically relevant information,” she said, and the method is identifying additional significant molecular pathways that underpin the condition.
“We continue to build an international consortium of clinicians and families to increase the power of this approach toward understanding human spina bifida,” Dr. Ross said.
Ultimately, she hopes it will be possible to analyze the genomes of couples who want to conceive, to identify their optimal strategies for preventing spina bifida. For example, for some couples, additional folic acid may be an excellent preventive measure, while for others, taking a supplement like inositol-;that can support cell membrane function-;may help lower the risk of spina bifida, according to some studies. “One day we will be able to counsel individual couples on what is the most effective route for them to have a healthy birth outcome, and for a child affected by spina bifida, to optimize their development and quality of life into adulthood,” she said.
Aguiar-Pulido, V., et al. (2021) Systems biology analysis of human genomes points to key pathways conferring spina bifida risk. PNAS. doi.org/10.1073/pnas.2106844118.
Original Source: news-medical.net
Genetic bottlenecks could impact Wyoming toads’ ability to respond to new pathogens
A new study from North Carolina State University examines immune system diversity in the critically endangered Wyoming toad and finds that genetic bottlenecks could impact a species’ ability to respond to new pathogens. The findings could inform captive breeding strategies for endangered animal populations.
The Wyoming toad, Anaxyrus baxteri, suffered a severe population decline throughout the latter part of the 20th century due to factors including habitat destruction and fungal infection. The toad was brought into a captive breeding program in the 1990s in order to save the species. Scientists estimate a current wild population of only 400 to 1,500 animals, meaning that the toad is considered critically endangered.
Population reduction in this species created a genetic bottleneck to begin with, meaning the level of genetic diversity is already very small. This is the first study to look specifically at genetic diversity in the immune systems of these toads and how it could impact them as a population.”
Jeff Yoder, professor of comparative immunology at NC State and co-corresponding author of paper
Yoder, with co-corresponding author Alex Dornburg of the University of North Carolina at Charlotte, performed RNA sequencing on immune tissues from three healthy, retired Wyoming toad breeders. Study co-author Michael Stoskopf, who was on the Wyoming Toad Recovery Implementation Team established in 2008, obtained the samples.
“We were focused specifically on sequences encoding toll-like receptors – TLRs – and the proteins of the major histocompatibility complex, or MHC, expressed in these tissues,” says Kara Carlson, first author of the study and current Ph.D. candidate at NC State. “These sets of genes are major components of the immune system.”
TLRs are the first responders of the immune system, and are similar, or well-conserved, between species. The MHC, on the other hand, is a large and diverse group of genes that varies between species and individuals. It can determine why one group is more resistant to a particular pathogen than another.
“MHC genes are some of the most rapidly evolving sequences in the genome,” Carlson says. “So in a healthy population there’s a lot of variety that gets passed along to descendants, enabling the species at large to adapt to different pathogens. However, if disease survivors do so because of their MHC, then that group would have a similar MHC.
“The Wyoming toads that were brought into captivity to save the species were all able to resist the fungus that had decimated the population, but that could mean that their immune diversity is reduced.”
The researchers compared the TLR and MHC of the three Wyoming toads to each other, as well as to samples from a common toad and a cane toad. Both the common toad and the cane toad showed more MHC diversity than the Wyoming toad, even though the cane toad underwent a similar genetic bottleneck.
“The small sample size in this study – which was unavoidable due to the endangered status of the toad – nevertheless lays an important framework for conservation,” Carlson says.
“Amphibians in general don’t have as many genomic resources as other organisms,” Yoder says. “And captive breeding from a small population further decreases genetic diversity. But while these toads may be better protected against the fungal infection that nearly wiped them out, they may not be equipped to deal with new pathogens down the road.”
“While we weren’t necessarily surprised by the lack of immunogenic diversity in the Wyoming toad, it does spark an important question,” Dornburg says. “How equipped are other species of conservation concern for a battle with an emergent pathogen?”
“By understanding the genetic diversity of the immune system we can inform captive breeding to increase the chance of a species to resist disease in the wild,” Yoder adds. “Studies like this one are invaluable for captive breeding practices going forward.”
Carlson, K.B., et al. (2022) Transcriptome annotation reveals minimal immunogenetic diversity among Wyoming toads, Anaxyrus baxteri. Conservation Genetics. doi.org/10.1007/s10592-022-01444-8.
Original Post: news-medical.net
Video conferencing hinders creativity
In-person teamwork has now transformed into virtual collaboration due to the COVID-19 pandemic. But does this affect innovation and creativity?
An interesting study on virtual communication led by Dr. Melanie S. Brucks from Columbia University and Prof. Jonathan Levav from Stanford University is published in the journal Nature. The study examines whether videoconferencing affects creative idea generation.
Study: Virtual communication curbs creative idea generation. Image Credit: Andrey_Popov / Shutterstock
Communication and collaboration
Collaboration is essential for several workplace tasks. It leads to innovation and idea generation. Historically, these collaborations have been in-person and required sharing of the same physical space. The use of traditional communication technologies like letters, emails, and phone calls hinder the smooth exchange of information and limits collaboration.
Now, due to advances in audio-visual technology, face-to-face interaction is possible via videoconferencing, allowing virtual collaboration. Videoconferencing has replaced in-person interactions due to pandemic-driven social distancing. Video interaction and in-person interaction allow communication of the same information.
While videoconferencing replacing in-person interaction has been beneficial in the social scenario, does it come with a cost in the workplace scenario? For example, does it affect collaborative idea generation?
The investigators performed a Laboratory experiment and a field experiment to test the difference between in-person interaction and videoconferencing in collaborative idea generation. First, they recruited participants and divided them into pairs: half of the pairs were assigned to an in-person setting, and the rest were assigned to a virtual setting.
A total of 602 participants were recruited for the laboratory experiment and divided into pairs. The participants were in separate rooms in the virtual setting and communicated through videoconferencing. The pairs were allotted five minutes to generate creative uses for a frisbee (150 pairs) or bubble wrap (151 pairs) and then one minute to select their most innovative idea.
The pairs were evaluated by counting the number of creative ideas and ideas they generated. The virtual pairs generated significantly fewer total and creative ideas compared to in-person pairs.
So, virtual collaboration hampered creative ideas. This could be because the virtual space narrows the visual scope, which in turn narrows the cognitive scope. To assess the visual focus, two methods were used. Firstly, the participants had to recollect the individual props in the room and point them on a worksheet. Secondly, the participants’ eye gaze was recorded during the experiment.
The virtual pairs narrowed their focus to the screen. Compared to in-person pairs, they spent significantly more time looking directly at their partner and less time looking at the surrounding room, and remembered significantly fewer props in the surrounding room.
As a consequence, the virtual medium narrowed the visual focus and inhibited the generation of ideas.
However, these results are in the context of a controlled laboratory setting.
The experiment was repeated in ‘the field’ under actual work conditions within a large multinational telecommunications company to see if these results could be extrapolated to the real world. The field experiment was conducted in five country sites – in Europe, the Middle East, and South Asia. In this setting, the participants knew their partners and used video conferencing regularly for work. Moreover, it included domain experts highly invested in the outcome of the collaboration.
A total of 1,490 engineers were recruited to participate in an ideation workshop and randomly divided into pairs. The pairs were allotted an hour to generate product ideas and submit one idea as future product innovation for the company.
The engineer pairs who worked on the task virtually generated fewer total ideas and creative ideas than in-person pairs at all five sites.
However, the decision quality was not affected by virtual collaboration. The in-person pairs generated a significantly higher top-scoring idea, but the selected idea did not significantly differ in quality between the virtual pairs and in-person pairs.
Other reasons for reduced creativity
The could be other reasons why virtual collaboration negatively affected idea generation. Therefore, the investigators explored the alternative explanations.
Since the in-person collaborators generated more total and creative ideas than the virtual collaborators, they could generate additional ideas similar to each other. However, upon semantic analysis, it was observed that they generated diverse and disconnected ideas.
Feelings of connection and trust
Studies have shown that feelings of connection and trust can foster team creativity. The virtual pairs may have reduced feelings of connection and trust toward their partner.
However, when assessed for subjective feelings of closeness, verbal and non-verbal behaviors, and mimicry, the virtual pairs were similar to in-person pairs in the laboratory experiment.
Thus, virtual and in-person interactions are very similar in terms of social connection or social behavior.
Usually, there is a lack of coordination in a conversation in virtual interactions due to the absence of eye contact. However, it could not wholly explain the effect of virtual interaction on idea generation.
This study also assessed the effect of interpersonal processes on idea generation. Interpersonal processes fear of evaluation, dominance, social facilitation, social loafing, social sensitivity, perceptions of performance, and production blocking were affected in virtual collaborations and these, in turn, affected idea generation.
Implications of the study
This study supports previous research suggesting that pairs perform better than large groups, both in-person and online. Therefore, this study recommends ideation in pairs and in person. Also, this study suggests that larger videoconferencing screens would not impact idea generation.
In-person collaborations offer a cognitive advantage. Now several workplaces are moving towards a hybrid setup. This study indicates that the creative idea generation should be reserved for in-person meetings.
Original Post: news-medical.net
Gum Health Day 2022 calls for prevention, early detection, and effective treatment of gum diseases
“Treat your gums” is the slogan for Gum Health Day 2022, a worldwide awareness campaign organized by the European Federation of Periodontology (EFP). The event aims to inform the public of the detrimental effects of gum diseases – gingivitis, periodontitis, peri-implant mucositis, and peri-implantitis – on both oral and overall health. The campaign calls for the prevention, early detection, and – where necessary – effective treatment of gum diseases.
Although still poorly acknowledged by the public, gum diseases are chronic inflammatory conditions affecting a high proportion of adults worldwide, causing tooth loss and other problems in the mouth. Crucially, gum diseases are also linked to major systemic health issues including diabetes mellitus, cardiovascular diseases, chronic kidney disease, adverse pregnancy outcomes, rheumatoid arthritis, Alzheimer’s disease, erectile dysfunction, certain forms of cancer, and more severe Covid-19 outcomes. This means that gum diseases and their prevention and treatment are of major importance not only for oral health, but also for the whole body.
This year’s campaign focuses heavily on the treatment part – we know that millions of people suffer from gum diseases that can be treated effectively. ‘Treat your gums’ calls for this treatment – with all the documented positive effects for the mouth and whole body – to actually happen.”
Moritz Kebschull, coordinator of Gum Health Day 2022
That is why the hashtag for the campaign is #TreatYourGums, and why the recent EFP-produced clinical practice guidelines on the treatment of periodontitis are a major part of the Gum Health Day 2022 initiative.
“The new EFP-produced clinical practice guidelines on the treatment of all four stages of periodontitis are a crucial development, as they are the first high-quality international guidelines to outline a structured and easily implemented pathway for the efficient and effective treatment of gum disease,” Prof. Kebschull says. “In a nutshell, gum disease treatment that works!”
He adds: “It is important to underline that gum disease is one of the most widespread chronic diseases in the worldwide adult population, and that it is usually painless, so its early detection and successful treatment depends heavily on how fast the patient takes action.”
A major innovation of Gum Health Day 2022 is an EFP-designed “customized content generator”, a feature that allows the federation’s 37 affiliated national societies of periodontology, their individual members – as well as practices, hospitals, and members of the public – to customise their own Gum Health Day 2022 materials, based on a series of graphic templates and catchphrases.
In the framework of Gum Health Day 2022, the EFP encourages periodontists, dentists, researchers, and other health-related professionals to sign and disseminate the EFP Manifesto: Perio and General Health, an international call to action for the prevention, early detection, and treatment of gum disease. Individuals and organisations are invited to endorse it and join the 1,200+ professionals, dental practices, companies, and universities that have so far supported it.
The European Federation of Periodontology (EFP, ww.efp.org) is a non-profit organization dedicated to promoting awareness of periodontal science and the importance of gum health. Its guiding vision is “periodontal health for a better life.”
Founded in 1991, the EFP is a federation of 37 national periodontal societies that represents more than 16,000 periodontists, dentists, researchers, and oral-health professionals from Europe and around the world. It supports evidence-based science in periodontal and oral health, and it promotes events and campaigns aimed at both professionals and the public.
The EFP organizes EuroPerio, the world’s leading congress in periodontology and implant dentistry, as well as other important professional and expert events such as Perio Master Clinic and Perio Workshop. The annual Gum Health Day on May 12, organized by the EFP and its member societies, brings key messages on gum health to millions of people across the world.
The EFP also organizes workshops and outreach campaigns with its partners: projects to date have covered the relationship between periodontal disease and diabetes, cardiovascular disease, and caries, as well as women’s oral health during pregnancy.
The EFP’s Journal of Clinical Periodontology is the most authoritative scientific publication in this field. The federation also publishes JCP Digest, a monthly digest of research, and the Perio Insight magazine, which features experts’ views and debates.
The EFP’s work in education is also highly significant, notably its accreditation programme for postgraduate education in periodontology and implant dentistry.
The EFP has no professional or commercial agenda.
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