Category Archives: Genetics

July 20, 2022July 20, 2022

Today is Gregor Mendels 200th birthday andcelebrationsare being heldall across the globe.

Why the fuss over anAugustinian monkfrom the 1800s who grew peas in the garden of the abbey where he lived?

Because breeding and studying those pea plants led Mendel to discover the fundamental laws of inheritance, earning him wide recognition as the father of modern genetics. Today, researchers from Clemson University and those across the world are using genetics in ways Mendel would never have dreamed for personalized medicine that tailors disease prevention and treatment, to breed drought- and disease-resilient crops, and to improve the health of agricultural crops and animals.

It all goes back to Mendel paying attention to what was happening right there around him. Mendel was the first person to really understand that traits can be quantified and inherited in a predictable way. Thats the foundation of genetics, full stop. Thats where it starts, said David F. Clayton, chair of the Clemson UniversityDepartment of Genetics and Biochemstry. Of course, in the years since, such great progress has been made in how that actually happens.

Back when Mendel started growing his pea plants, it was thought that traits in offspring were a result of a blending of traits of each parent, kind of like mixing paint.

Mendel studied seven traits of pea plants: seed color, seed shape, flower position, flower color, pod shape, pod color and stem length. He noticed when he cross-pollinated a pea plant with yellow pods with one that had green pods, he didnt get plants with yellowish-green pods. Instead, all of them were yellow. However, when that crop self-pollinated, 75% of the second generation were yellow and 25% were green. Mendel concluded that each individual had two complete sets of inheritable factors, one from each parent. He attributed that generation-skipping to some characteristics being dominant and some being recessive.

Since then, our knowledge of genetics has grown by leaps and bounds. After all, Mendel didnt know about genes or DNA, and sequencing of the human genome wasnt completed until 2003.

Today, genetics is all around us, woven into our daily live in small and large ways.

The Clemson University Center for Human Genetics and the College of Science will celebrate Mendels birthday with a lecture by Daniel J. Fairbanks of Utah Valley University on Sept. 2 at 2:30 p.m. The lecture, Gregor Mendel at the Bicentennial of his Birth: The Life and Legacy of a Scientific Genius, will be held on Zoom. It is part of the College of Sciences Discover Science Lecture Series.

The College of Science pursues excellence in scientific discovery, learning, and engagement that is both locally relevant and globally impactful. The life, physical and mathematical sciences converge to tackle some of tomorrows scientific challenges, and our faculty are preparing the next generation of leading scientists. The College of Science offers high-impact transformational experiences such as research, internships and study abroad to help prepare our graduates for top industries, graduate programs and health professions. clemson.edu/science

Or email us at news@clemson.edu

Continued here:
Happy 200th birthday, Gregor Mendel: 5 ways the father of modern genetics impacted your life today - Clemson News

Johri, A. K. et al. Group B Streptococcus: global incidence and vaccine development. Nat. Rev. Microbiol. https://doi.org/10.1038/nrmicro1552 (2006).

Nizet, V. I., Ferrieri, P. A. & Rubens, C. E. Molecular pathogenesis of group B streptococcal disease in newborns. Streptococcal Infect. Clin. Asp. Microbiol. Mol. Pathog. 180221 (Oxford Univ. Press, New York, NY, 2000).

Davies, H. G., Carreras-Abad, C., Le Doare, K. & Heath, P. T. Group B Streptococcus: trials and tribulations. Pediatr. Infect. Dis. J. https://doi.org/10.1097/INF.0000000000002328 (2019).

Seale, A. C. et al. Estimates of the burden of Group B Streptococcal disease worldwide for pregnant women, stillbirths, and children. Clin. Infect. Dis. https://doi.org/10.1093/cid/cix664 (2017).

World Health Organisation. Group B Streptococcus Vaccine: Full Value of Vaccine Assessment. Financial Analysis. (World Health Organisation, 2021).

Schuchat, A. Epidemiology of group B streptococcal disease in the United States: Shifting paradigms. Clin. Microbiol. Rev. https://doi.org/10.1128/cmr.11.3.497 (1998).

Bekker, V., Bijlsma, M. W., van de Beek, D., Kuijpers, T. W. & Van der Ende, A. Incidence of invasive group B streptococcal disease and pathogen genotype distribution in newborn babies in the Netherlands over 25 years: a nationwide surveillance study. Lancet Infect. Dis. https://doi.org/10.1016/S1473-3099(14)70919-3 (2014).

Bevan, D., White, A., Marshall, J. & Peckham, C. Modelling the effect of the introduction of antenatal screening for group B Streptococcus (GBS) carriage in the UK. BMJ Open https://doi.org/10.1136/bmjopen-2018-024324 (2019).

Ancona, R. J., Ferrieri, P. & Williams, P. P. Maternal factors that enhance the acquisition of group-B streptococci by newborn infants. J. Med. Microbiol. 13, 273280 (1980).

CAS PubMed Article Google Scholar

Tazi, A. et al. Risk factors for infant colonization by hypervirulent CC17 group B Streptococcus: toward the understanding of late-onset disease. Clin. Infect. Dis. 69, 17401748 (2019).

CAS PubMed Article Google Scholar

Gizachew, M. et al. Proportion of Streptococcus agalactiae vertical transmission and associated risk factors among Ethiopian mother-newborn dyads, Northwest Ethiopia. Sci. Rep. 10, 3477 (2020).

ADS CAS PubMed PubMed Central Article Google Scholar

Hung, L.-C. et al. Risk factors for neonatal early-onset group B streptococcus-related diseases after the implementation of a universal screening program in Taiwan. BMC Public Health 18, 438 (2018).

PubMed PubMed Central Article Google Scholar

Schrag, S. J. et al. A population-based comparison of strategies to prevent early-onset group B Streptococcal disease in neonates. N. Engl. J. Med. 347, 233239 (2002).

PubMed Article Google Scholar

Lawn, J. E. et al. Every country, every family: time to act for group B Streptococcal disease worldwide. Clin. Infect. Dis. ciab859, https://doi.org/10.1093/cid/ciab859 (2021).

Romain, A.-S. et al. Clinical and laboratory features of group B Streptococcus meningitis in infants and newborns: study of 848 cases in France, 20012014. Clin. Infect. Dis. 66, 857864 (2018).

PubMed Article Google Scholar

Alhhazmi, A., Hurteau, D. & Tyrrell, G. J. Epidemiology of invasive group B Streptococcal disease in Alberta, Canada, from 2003 to 2013. J. Clin. Microbiol. 54, 17741781 (2016).

CAS PubMed PubMed Central Article Google Scholar

Moore, M. R., Schrag, S. J. & Schuchat, A. Effects of intrapartum antimicrobial prophylaxis for prevention of group-B-streptococcal disease on the incidence and ecology of early-onset neonatal sepsis. Lancet Infect. Dis. 3, 201213 (2003).

PubMed Article Google Scholar

Ohlsson, A. & Shah, V. S. Intrapartum antibiotics for known maternal Group B streptococcal colonization. Cochrane Database Syst. Rev. https://doi.org/10.1002/14651858.CD007467.pub4 (2014).

Nishihara, Y., Dangor, Z., French, N., Madhi, S. & Heyderman, R. Challenges in reducing group B Streptococcus disease in African settings. Arch. Dis. Child. 102, 72 LP72 77 (2017).

Article Google Scholar

Buurman, E. T. et al. A novel hexavalent capsular polysaccharide conjugate vaccine (GBS6) for the prevention of neonatal group b streptococcal infections by maternal immunization. J. Infect. Dis. https://doi.org/10.1093/infdis/jiz062 (2019).

Madhi, S. A. et al. Safety and immunogenicity of an investigational maternal trivalent group B streptococcus vaccine in healthy women and their infants: a randomised phase 1b/2 trial. Lancet Infect. Dis. https://doi.org/10.1016/S1473-3099(16)00152-3 (2016).

Heyderman, R. S. et al. Group B streptococcus vaccination in pregnant women with or without HIV in Africa: a non-randomised phase 2, open-label, multicentre trial. Lancet Infect. Dis. https://doi.org/10.1016/S1473-3099(15)00484-3 (2016).

Nilo, A. et al. Anti-group B Streptococcus glycan-conjugate vaccines using pilus protein GBS80 as carrier and antigen: comparing lysine and tyrosine-directed conjugation. ACS Chem. Biol. https://doi.org/10.1021/acschembio.5b00247 (2015).

Absalon, J. et al. Safety and immunogenicity of a novel hexavalent group B streptococcus conjugate vaccine in healthy, non-pregnant adults: a phase 1/2, randomised, placebo-controlled, observer-blinded, dose-escalation trial. Lancet Infect. Dis. 21, 263274 (2021).

CAS PubMed Article Google Scholar

Martin, T. R., Ruzinski, J. T., Rubens, C. E., Chi, E. Y. & Wilson, C. B. The effect of type-specific polysaccharide capsule on the clearance of group B Streptococci from the lungs of infant and adult rats. J. Infect. Dis. 165, 306314 (1992).

CAS PubMed Article Google Scholar

Marques, M. B., Kasper, D. L., Pangburn, M. K. & Wessels, M. R. Prevention of C3 deposition by capsular polysaccharide is a virulence mechanism of type III group B streptococci. Infect. Immun. https://doi.org/10.1128/iai.60.10.3986-3993.1992 (1992).

Uchiyama, S. et al. Dual actions of group B Streptococcus capsular sialic acid provide resistance to platelet-mediated antimicrobial killing. Proc. Natl. Acad. Sci. USA. https://doi.org/10.1073/pnas.1815572116 (2019).

Herbert, M. A., Beveridge, C. J. E. & Saunders, N. J. Bacterial virulence factors in neonatal sepsis: group B streptococous. Curr. Opin. Infect. Dis. https://doi.org/10.1097/00001432-200406000-00009 (2004).

Lynskey, N. N. et al. Multi-functional mechanisms of immune evasion by the streptococcal complement inhibitor C5a peptidase. PLOS Pathog. 13, e1006493 (2017).

PubMed PubMed Central Article CAS Google Scholar

Bryan, J. D. & Shelver, D. W. Streptococcus agalactiae CspA is a serine protease that inactivates chemokines. J. Bacteriol. 191, 18471854 (2009).

CAS PubMed Article Google Scholar

Poyart, C. et al. Contribution of Mn-cofactored superoxide dismutase (SodA) to the virulence of Streptococcus agalactiae. Infect. Immun. 69, 50985106 (2001).

CAS PubMed PubMed Central Article Google Scholar

Gibson, R. L., Nizet, V. & Rubens, C. E. Group B Streptococcal -hemolysin promotes injury of lung microvascular endothelial cells. Pediatr. Res. 45, 626634 (1999).

CAS PubMed Article Google Scholar

Zhu, L. et al. Genetic basis underlying the hyperhemolytic phenotype of Streptococcus agalactiae strain CNCTC10/84. J. Bacteriol. 202, e00504e00520 (2020).

CAS PubMed PubMed Central Google Scholar

Deng, L. et al. Characterization of a two-component system transcriptional regulator, LtdR, that impacts group B Streptococcal colonization and disease. Infect. Immun. 86, e0082217 (2018).

CAS PubMed PubMed Central Article Google Scholar

Wang, N.-Y. et al. Group B streptococcal serine-rich repeat proteins promote interaction with fibrinogen and vaginal colonization. J. Infect. Dis. 210, 982991 (2014).

CAS PubMed PubMed Central Article Google Scholar

Buscetta, M. et al. FbsC, a novel fibrinogen-binding protein, promotes Streptococcus agalactiae-host cell interactions. J. Biol. Chem. 289, 2100321015 (2014).

CAS PubMed PubMed Central Article Google Scholar

Doran, K. S. et al. Blood-brain barrier invasion by group B Streptococcus depends upon proper cell-surface anchoring of lipoteichoic acid. J. Clin. Invest. 115, 24992507 (2005).

CAS PubMed PubMed Central Article Google Scholar

Almeida, A. et al. Whole-genome comparison uncovers genomic mutations between group B Streptococci sampled from infected newborns and their mothers. J. Bacteriol. 197, 33543366 (2015).

CAS PubMed PubMed Central Article Google Scholar

Andrea, G. et al. Pan-GWAS of Streptococcus agalactiae highlights lineage-specific genes associated with virulence and niche adaptation. MBio 11, e0072820 (2021).

Google Scholar

Read, T. D. & Massey, R. C. Characterizing the genetic basis of bacterial phenotypes using genome-wide association studies: a new direction for bacteriology. Genome Med. 6, 109 (2014).

PubMed PubMed Central Article CAS Google Scholar

Power, R. A., Parkhill, J. & De Oliveira, T. Microbial genome-wide association studies: lessons from human GWAS. Nat. Rev. Genet. https://doi.org/10.1038/nrg.2016.132 (2016).

Lees, J. A. et al. Large scale genomic analysis shows no evidence for pathogen adaptation between the blood and cerebrospinal fluid niches during bacterial meningitis. Microb. Genomics 3, e000103e000103 (2017).

Google Scholar

Lilje, B. et al. Whole-genome sequencing of bloodstream Staphylococcus aureus isolates does not distinguish bacteraemia from endocarditis. Microb. Genomics 3, e000138 (2017).

Google Scholar

Lees, J. A. et al. Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis. Nat. Commun. https://doi.org/10.1038/s41467-019-09976-3 (2019).

Li, Y. et al. Genome-wide association analyses of invasive pneumococcal isolates identify a missense bacterial mutation associated with meningitis. Nat. Commun. 10, 178 (2019).

ADS PubMed PubMed Central Article CAS Google Scholar

Young, B. C. et al. Panton-valentine leucocidin is the key determinant of staphylococcus aureus pyomyositis in a bacterial GWAS. Elife https://doi.org/10.7554/eLife.42486 (2019).

Kulohoma, B. W. et al. Comparative genomic analysis of meningitis- and bacteremia-causing pneumococci identifies a common core genome. Infect. Immun. 83, 41654173 (2015).

Davies, M. R. et al. Atlas of group A streptococcal vaccine candidates compiled using large-scale comparative genomics. Nat. Genet. 51, 10351043 (2019).

CAS PubMed PubMed Central Article Google Scholar

Chaguza, C. et al. Bacterial genome-wide association study of hyper-virulent pneumococcal serotype 1 identifies genetic variation associated with neurotropism. Commun. Biol. 3, 559 (2020).

CAS PubMed PubMed Central Article Google Scholar

Laabei, M. et al. Predicting the virulence of MRSA from its genome sequence. Genome Res. https://doi.org/10.1101/gr.165415.113 (2014).

Coll, F. et al. Genome-wide analysis of multi- and extensively drug-resistant Mycobacterium tuberculosis. Nat. Genet. https://doi.org/10.1038/s41588-017-0029-0 (2018).

Chewapreecha, C. et al. Comprehensive identification of single nucleotide polymorphisms associated with beta-lactam resistance within pneumococcal mosaic genes. PLoS Genet. 10, e1004547e1004547 (2014).

PubMed PubMed Central Article CAS Google Scholar

Farhat, M. R. et al. Genomic analysis identifies targets of convergent positive selection in drug-resistant Mycobacterium tuberculosis. Nat. Genet. 45, 11831189 (2013).

CAS PubMed PubMed Central Article Google Scholar

Suzuki, M., Shibayama, K. & Yahara, K. A genome-wide association study identifies a horizontally transferred bacterial surface adhesin gene associated with antimicrobial resistant strains. Sci. Rep. 6, 37811 (2016).

ADS CAS PubMed PubMed Central Article Google Scholar

Hicks, N. D., Carey, A. F., Yang, J., Zhao, Y. & Fortune, S. M. Bacterial genome-wide association identifies novel factors that contribute to ethionamide and prothionamide susceptibility in Mycobacterium tuberculosis. MBio 10, e00616e00619 (2019).

CAS PubMed PubMed Central Article Google Scholar

Sieber, R. N. et al. Genome investigations show host adaptation and transmission of LA-MRSA CC398 from pigs into Danish healthcare institutions. Sci. Rep. 9, 18655 (2019).

ADS CAS PubMed PubMed Central Article Google Scholar

Ma, K. C. et al. Adaptation to the cervical environment is associated with increased antibiotic susceptibility in Neisseria gonorrhoeae. Nat. Commun. 11, 4126 (2020).

ADS CAS PubMed PubMed Central Article Google Scholar

Chewapreecha, C. et al. Genetic variation associated with infection and the environment in the accidental pathogen Burkholderia pseudomallei. Commun. Biol. 2, 428 (2019).

CAS PubMed PubMed Central Article Google Scholar

Jamrozy, D. et al. Increasing incidence of group B streptococcus neonatal infections in the Netherlands is associated with clonal expansion of CC17 and CC23. Sci. Rep. 10, 9539 (2020).

ADS PubMed PubMed Central Article CAS Google Scholar

Bianchi-Jassir, F. et al. Systematic review of Group B Streptococcal capsular types, sequence types and surface proteins as potential vaccine candidates. Vaccine https://doi.org/10.1016/j.vaccine.2020.08.052 (2020).

Nicola, J. et al. Multilocus sequence typing system for group B Streptococcus. J. Clin. Microbiol. 41, 25302536 (2003).

Article CAS Google Scholar

Cheng, L., Connor, T. R., Sirn, J., Aanensen, D. M. & Corander, J. Hierarchical and spatially explicit clustering of DNA sequences with BAPS software. Mol. Biol. Evol. 30, 12241228 (2013).

CAS PubMed PubMed Central Article Google Scholar

View post:
Population genomics of Group B Streptococcus reveals the genetics of neonatal disease onset and meningeal invasion - Nature.com

A majority of people in the U.S have had Covid-19 at least once likely more than 70% of the country, White House Covid-19 Response Coordinator Ashish Jha said on Thursday, citing data from the Centers for Disease Control and Prevention.

Many have been infected multiple times. In a study that has not been peer viewed that looked at 257,000 U.S. veterans who'd contracted Covid at least once, 12% had a reinfection by April and about 1% had been infected three times or more.

This raises an obvious question: What is keeping that shrinking minority of people from getting sick?

Disease experts are homing in on a few predictive factors beyond individual behavior, including genetics, T cell immunity and the effects of inflammatory conditions like allergies and asthma.

But even as experts learn more about the reasons people may be better equipped to avoid Covid, they caution that some of these defenses may not hold up against the latest version of omicron, BA.5, which is remarkably good at spreading and evading vaccine protection.

"It really takes two to tango," said Neville Sanjana, a bioengineer at the New York Genome Center. "If you think about having an infection and any of the bad stuff that happens after that, it really is a product of two different organisms: the virus and the human."

In 2020, New York University researchers identified a multitude of genes that could affect a person's susceptibility to the coronavirus. In particular, they found that inhibiting certain genes that code for a receptor known as ACE2, which allows the virus to enter cells, could reduce a person's likelihood of infection.

Sanjana, who conducted that research, estimated that about 100 to 500 genes could influence Covid-19 susceptibility in sites like the lungs or nasal cavity.

Genetics is "likely to be a large contributor" to protection from Covid-19, he said. "I would never say its the only contributor."

In July, researchers identified a common genetic factor that could influence the severity of a coronavirus infection. In a study of more than 3,000 people, two genetic variations decreased the expression of a gene called OAS1, which is part of the innate immune response to viral infections. That was associated with an increased risk of Covid-19 hospitalization.

Increasing the gene's expression, then, should have the opposite effect reducing the risk of severe disease though it wouldn't necessarily prevent infection altogether.

"Its very natural to get infected once you are exposed. Theres no magic bullet for that. But after you get infected, how youre going to respond to this infection, thats what is going to be affected by your genetic variants," said Ludmila Prokunina-Olsson, the study's lead researcher and chief of the Laboratory of Translational Genomics at the National Cancer Institute.

Still, Benjamin tenOever, a microbiology professor at the NYU Grossman School of Medicine who helped conduct the 2020 research, said it would be difficult for scientists to pinpoint a particular gene responsible for preventing a Covid infection.

"While there might still be certainly some genetics out there that do render people completely resistant, theyre going to be incredibly hard to find," tenOever said. "People have already been looking intensely for two years with no actual results."

Aside from this new coronavirus, SARS-CoV-2, four other coronaviruses commonly infect people, typically causing mild to moderate upper respiratory illnesses like the common cold.

A recent study suggested that repeated exposure to or occasional infections from these common cold coronaviruses may confer some protection from SARS-CoV-2.

The researchers found that T cells, a type of white blood cell that recognizes and fights invaders, seem to recognize SARS-CoV-2 based on past exposure to other coronaviruses. So when a person who has been infected with a common cold coronavirus is later exposed to SARS-CoV-2, they might not get as sick.

But that T cell memory probably can't prevent Covid entirely.

"While neutralizing antibodies are key to prevent an infection, T cells are key to terminate an infection and to modulate the severity of infection," said Alessandro Sette, the studys author and a professor at the La Jolla Institute for Immunology.

Sette said it's possible that some people's T cells clear the virus so quickly that the person never tests positive for Covid. But researchers aren't yet sure if that's what's happening.

"Its possible that, despite being negative on the test, it was a very abortive, transient infection that was not detected," Sette said.

At the very least, he said, T cells from past Covid infections or vaccines should continue to offer some protection against coronavirus variants, including BA.5.

Although asthma was considered a potential risk factor for severe Covid earlier in the pandemic, more recent research suggests that low-grade inflammation from conditions like allergies or asthma may have a protective benefit.

"Youll hear these stories about some individuals getting sick and having full-blown symptoms of Covid, and having slept beside their partner for an entire week during that period without having given it to them. People think that they must have some genetic resistance to it, [but] a big part of that could be if the partner beside them in any way has a higher than normal inflammatory response going on in their lungs," tenOever said.

A May study found that having a food allergy halved the risk of a coronavirus infection among nearly 1,400 U.S. households. Asthma didn't lower people's risk of infection in the study, but it didn't raise it, either.

One theory, according to the researchers, is that people with food allergies express fewer ACE2 receptors on the surface of their airway cells, making it harder for the virus to enter.

"Because there are fewer receptors, you will have either a much lower grade infection or just be less likely to even become infected," said Tina Hartert, a professor of medicine and pediatrics at the Vanderbilt University School of Medicine, who co-led that research.

The study took place from May 2020 to February 2021, before the omicron variant emerged. But Hartert said BA.5 likely wouldn't eliminate cross-protection from allergies.

"If something like allergic inflammation is protective, I think it would be true for all variants," Hartert said. "The degree to which it could be protective could certainly differ."

For many, the first explanation that springs to mind when thinking about Covid avoidance is one's personal level of caution. NYU's TenOever believes that individual behavior, more than genetics or T cells, is the key factor. He and his family in New York City are among those who've never had Covid, which he attributes to precautions like staying home and wearing masks.

"I dont think for a second that we have anything special in our genetics that makes us resistant," he said.

It's now common knowledge that Covid was easier to avoid before omicron, back when a small percentage of infected people were responsible for the majority of the virus's spread. A 2020 study, for example, found that 10% to 20% of infected people accounted for 80% of transmissions.

But omicron and its subvariants have made any social interaction riskier for everyone involved.

"It's probably far more of an equal playing field with the omicron variants than it ever was for the earlier variants," tenOever said.

BA.5, in particular, has increased the odds that people who've avoided Covid thus far will get sick. President Joe Biden is a prime example: He tested positive for the first time this week.

But even so, Jha said on Thursday in a news briefing, "I dont believe that every American will be infected."

Follow this link:
Scientists are narrowing in on why some people keep avoiding Covid. BA.5 could end that luck. - NBC News

The same genes that sendpeople to the bathroom with an irritable bowel syndrome flare-up may be involved in future brain health, according to a new study. Researchers have found a genetic correlation between individuals with gastrointestinal tract (GIT) disorders and Alzheimer's disease (AD).

Analyzing years of genetic data from AD studies and similar data from six GIT disorders, the scientists at the Center for Precision Health at Edith Cowan University in Australia found that many disease-specific genes shared the same loci, or chromosomal location, in each group.

The researchers say it is the first comprehensive look at the genetic relationship between these disorders. Prior to this, it was widely believed that there was a link between gastrointestinal disorders and AD. A 2020 longitudinal study noted that people with irritable bowel disease were six times more likely to suffer from AD. But the gut-brain axis had not yet been examined on a genetic basis.

"The study provides a novel insight into the genetics behind the observed co-occurrence of AD and gut disorders," Emmanuel Adewuyi, PhD, MPH, said in an interview with EurekaAlert. Adewuyi, a postdoctoral research fellow at the Center for Precision Health at Edith Cowan University, led the study.

The authors say that understanding the underlying genetics of AD can provide clues about how the disease works, which is largely a mystery. Treatment of the disease is increasingly urgent in a world with growing life expectancy and incidence of AD. By 2030, over 82 million people will likely suffer from AD, according to the 2015 World Alzheimer's Report.

The Australian study relied upon previously performed genome-wide association studies. They searched data for patients with AD, gastroesophageal reflux disease, peptic ulcer disease, gastritis-duodenitis, irritable bowel syndrome, diverticulosis, and irritable bowel disorder.

The final cohort represented over 450,000 people. Of those analyzed, they found all the GIT disorders except irritable bowel disorder were correlated with AD.

One of the biological factors that underscored this relationship was the amount of abnormal cholesterol in both sets studied. From the study, It appears that altered cholesterol was a risk factor for both AD and gut disorders. Therefore, the authors suggest that next steps should investigate the use of statins, such as atorvastatin or lovastatin, which lower cholesterol to see whether they help protect the gut and, in turn, the brain.

Although these results point toward a correlation, the researchers caution that a causal relationship cannot be established between these two sets of disorders. The data advance the idea of the gut-brain axis but don't show that GI problems cause AD or vice versa. Nor do the findings mean that someone with AD will always have gut problems or that a person with gut problems will develop AD.

The authors suggest the role of diet in health maintenance. They specifically highlight the Mediterranean diet, which is rich in natural fats and vegetables.

The study was independently supported. The authors report no relevant financial relationships.

Commun Biol. Published online July 18, 2022. Full text

For more news, follow Medscape on Facebook, Twitter, Instagram, and YouTube.

See original here:
Genetic Link Adds to Gut-Brain Axis Theory in Alzheimer's Disease - Medscape

Although normal variations in height are common, many of those with extremely short stature have genetic mutations, found an almost two-year-long study by the genetic clinic of Sir Ganga Ram Hospital in Delhi.

The diagnosis of such mutations could be made just by assessing the clinical profile of the patients, with the genetic testing required in the rest.

The study included 455 individuals between the ages of 10 months and 16 years who came to the hospitals genetic clinic between January 2017 and October 2018. All the individuals were in the lower third percentile for their height at age. The study was done to assess the spectrum of genetic disorders in persons with short stature.

Normal variation in adult height is largely due to inherited genetic factors. But, by contrast, at the extreme of short stature, patients often have mutations (changes) in a single gene, resulting in large effects on height.

Genetics plays an important part in determining an individuals height. Although there are many monogenic disorders (inherited diseases controlled by a fault in a single gene) that lead to perturbations in growth and result in short stature, this study asserts the importance of a good clinical examination to enable correct diagnosis. We wanted to reiterate that amongst the armamentarium of genetic tests available, a clinical profile assessment enables a diagnosis in 65 per cent of patients with proportionate short stature, said Dr Ratna Dua Puri, chairperson of the Institute of Medical Genetics and Genomics at Sir Ganga Ram Hospital.

Among the patient who could be diagnosed based on clinical presentation, 94.3 per cent had Downs Syndrome as per the study. Of those who needed to undergo genetic screening, 63 per cent had proportionate short stature meaning the upper and lower body were equally, abnormally short. Of these, 65 per cent of the individuals had recognisable genetic syndromes such as Turner Syndrome (one of the X chromosomes is partially missing), Williams Syndrome (developmental disorder affecting many parts of the body), and RASopathies (a group of rare conditions caused by mutations in genes that make proteins that control cell function, cell maturation, and cell death).

Of the 37 per cent who had disproportionate short stature (either upper or lower part of the body is short), 45 per cent had Lysosomal Storage Disorder (a group of metabolic diseases that lead to the build-up of various toxic materials in the organs) and 44 per cent had Skeletal Dysplasias (a group of condition that affects bone development, neurological function, and cartilage growth).

Through this study, we have attempted to represent the genetic spectrum of disorders in children with short stature and the appropriate testing indications. This becomes more relevant with the increasing ability of the tests and decreasing costs. Achieving a definitive diagnosis can help to guide prognosis, provide treatment and genetic counselling to the families, said Dr Puri.

See the original post:
Many with extremely short stature have genetic mutations, shows Delhi's Gangaram Hospital study - The Indian Express

Global Farm Animal Genetics Market is indeed the title of a substantial market research study conducted by MarketsandResearch.biz that looks at market growth prospects and opportunities. An industry synopsis, needs, product description, and goals, as well as an industry analysis, are included in the study. The researchs main objective is to offer a thorough overview of the industrys rivals, market trends, market potential, growth rate, and other skills that will be useful.

The study looks at the major barriers to market development, such as how global Farm Animal Genetics marketplaces may open up new doors. The following part covers expansion strategies and procedures, growth predictions, production methodology, and cost structures. The report will also include extensive consumption data, import and export statistics from regional and worldwide markets, revenue and gross profit margin estimations, and revenue and gross profit margin forecasts.

DOWNLOAD FREE SAMPLE REPORT: https://www.marketsandresearch.biz/sample-request/317210

The report also furnishes information on the country/regional level that help in understanding the fastest and largest country/region in Farm Animal Genetics market.

The following product kinds are highlighted in the study:

The following are the top apps mentioned in the study:

The following businesses are featured prominently in the market report:

This research concentrates on a few important regions in terms of geography:

ACCESS FULL REPORT: https://www.marketsandresearch.biz/report/317210/global-farm-animal-genetics-market-2022-by-company-regions-type-and-application-forecast-to-2028

The study will look at the key obstacles to market growth as well as the overall development prospects of the global Farm Animal Genetics market. The expansion goals and plans, as well as growth numbers, manufacturing methods, and cost structures, are all described in this paper. Detailed consumption data, regional and worldwide market import and export, revenue, and gross profit margin assessments may all have been included in the research.

Customization of the Report:

This report can be customized to meet the clients requirements. Please connect with our sales team (sales@marketsandresearch.biz), who will ensure that you get a report that suits your needs. You can also get in touch with our executives on 1-201-465-4211 to share your research requirements.

Contact UsMark StoneHead of Business DevelopmentPhone: 1-201-465-4211Email: sales@marketsandresearch.biz

Read the rest here:
Farm Animal Genetics Market 2022 Comprehensive Insights, Growth and Forecast 2028 | Genus PLC, Hendrix Genetics, EW Group, Zoetis This Is Ardee -...

For a study, researchers sought to determine how copy number variants (CNV) risk scores, common genetic variation quantified by polygenic scores (PGSs), and environmental variables interact to influence cognition and psychopathology in a community population.

The Philadelphia Neurodevelopmental Cohort is a community-based research project that looks at genetics, psychopathology, neurocognition, and neuroimaging. Participants were recruited through the pediatric network at Childrens Hospital of Philadelphia. From November 5, 2009, through December 30, 2011, participants with stable health and English fluency received genotypic and phenotypic characterization. The data were examined from January 1 to July 30, 2021.

The researchers looked at copy number variants (CNVs) risk scores derived from the burden, anticipated intolerance, gene dosage sensitivity models, PGSs from genomewide association studies associated with developmental outcomes, and environmental variables such as trauma exposure and neighborhood socioeconomic status. The Penn Computerized Neurocognitive Battery was used to assess neurocognition; structured interviews based on the Schedule for Affective Disorders and Schizophrenia for School-Age Children were used to assess psychopathology, and magnetic resonance imaging was used to assess brain volume.

There were 9,498 juveniles aged 8 to 21 years in the study; 4,906 (51.7%) were female, and the mean (SD) age was 14.2 (3.7) years. After quality control, 7,101 unrelated subjects genotyped on Illumina arrays had 18,185 total CNVs bigger than 50 kilobases (10,517 deletions and 7,668 duplications). Elevated CNV risk scores were associated with lower overall accuracy on cognitive tests (standardized =0.12; 95% CI, 0.10-0.14; P=7.4110-26); lower accuracy across a variety of cognitive subdomains; increased overall psychopathology; increased psychosis-spectrum symptoms; and higher deviation from a normative developmental model of brain volume in these participants. When CNV risk ratings were integrated with PGSs and environmental variables, statistical models of developmental outcomes improved dramatically.

Elevated CNV risk scores were linked to worse cognitive ability, higher psychopathology, psychosis-spectrum symptoms, and more departures from normative magnetic resonance imaging models of brain development in this investigation. The findings offered an important step toward understanding clinically relevant outcomes in kids by combining uncommon genetic, common genetic, and environmental variables.

Reference: jamanetwork.com/journals/jamapsychiatry/fullarticle/2792406

Read the original post:
Relationship Between CNV Risk Scores and Common Genetic Variation Indexed by Polygenic Scores (PGSs) - Physician's Weekly

DEPARTMENT OF BIOLOGICAL SCIENCES

Postdoctoral researcher position in cell biology and genetics at the University of Cyprus

Title:Post-Doctoral ResearcherNo. of Positions:One (1)Category:One (1) year contract with possibility of extensionLocation:University of Cyprus, Nicosia

We are inviting applications for a postdoctoral researcher position to work with Yiorgos Apidianakis at the Infection and Cancer Laboratory in the Department of Biological Sciences at the University of Cyprus. The role will involve working on a Cyprus Research and Innovation Foundation (RIF) project.

Duties and Responsibilities

Work will involve research on live tissue cell imaging and fixed tissue immunohistochemistry and cell measurement analytics, as well as project management, manuscript preparation and dissemination of results.

Required Qualifications

Desirable skills

Location

Employment Terms

The position is for an initial 12 months, extendable up to 16 months, with a gross salary range of 2000 - 2666.67 per month. Employee contributions will be deducted from this above amount. The position does not include a 13th Salary bonus.

How to apply

Applications for these positions are due by September 15, 2022. Informal enquiries and applications, including a cover letter, CV and details of two referees, should be sent by email to:

Associate Professor Yiorgos Apidianakis,Infection and Cancer LaboratoryDepartment of Biological Sciences,|University of Cyprusapidiana@ucy.ac.cy

At least the best three candidates that satisfy the required qualifications, will be interviewed by a 3-member Committee.

Candidates shall be informed of the result of their application by the relevant entity.

The University of Cyprus shall collect and process your personal data according to the provisions of the General Regulation on Personal Data 2016/679 (EU).

The University of Cyprus (UCY) is committed to promoting inclusivity, diversity, and equality, as well as the elimination of all forms of discrimination in order to provide a fair, safe, and pleasant environment for the entire university community, where students and staff members will feel supported both in their professional and personal development, within and beyond their multiple identities. To this end, UCY seeks to create the necessary conditions that will encourage and respect diversity, and ensure dignity both in the workplace and society at large. Moreover, UCY has adopted specific policies to promote equal opportunities, as well as respect and understanding of diversity, while it is committed to promoting and maintaining a working, teaching, and learning environment, free from any form of discrimination, whether direct or indirect.

View original post here:
Post-Doctoral Researcher, Cell biology and Genetics job with UNIVERSITY OF CYPRUS | 302227 - Times Higher Education

A Seoul National University Bundang Hospital (SNUBH) research team has discovered a new gene mutation related to the cause of autism for the first time worldwide through a large-scale genetics study of autistic patients and their families.

Autism is a developmental disorder characterized by repetitive behavior or narrowness of interest along with a lack of communication or social interaction, as shown in the popular drama "Extraordinary Attorney Woo." Typically, characteristic symptoms are revealed around the age of 2. Considering the brain develops quickly, early intervention is important.

Genes play a major role in the development of autism, but the specific genes and their role in early brain development have not been identified. Consequently, there are no treatments for autism symptoms, such as social deficits or communication disorders, but only medication to cure impulsivity or anxiety symptoms.

Professor Yoo Hee-jeong of the Neuropsychiatry Department at SNUBH conducted the joint study with Professors Lee Jeong-ho and Choi Jun-kyun of the Korea Advanced Institute of Science and Technology (KAIST), Institute of Basic Science Director Kim Eun-joon, and others to identify the genetic mutations that cause autism for the development of therapeutics.

The joint group focused on the brains non-coding region, a genomic region that accounts for more than 98 percent of the genomic data but was excluded from the study as it does not directly produce proteins. Researchers received blood from 813 people autism patients and their family members suitable for the study and analyzed the genome, produced human stem cells to reproduce prenatal neurons.

Results revealed that genetic mutations in the non-coding region affect brain development by remotely influencing distant genetic mutations through interactions in three-dimensional spaces in early stages of neurodevelopment.

This study changes the autistic research paradigm, which previously focused only on areas encoding existing proteins, and reveals new target genes to determine the root cause of autism. Professor Yoo said.

Yoo added that the team has identified the hidden secret of autism using data unique to Koreans' autism parties and families and are very grateful for the dedication of the participants in this study.

We will continue research to help improve the lives of autistic people and their families, Yoo said.

The study was published in the latest issue of the Molecular Psychiatry journal.

Read the original:
Researchers find new genetic mutation causing autism through study of patients and families - KBR

Products derived from the cotton plant show up in many items that people use daily, including blue jeans, bedsheets, paper, candles, and peanut butter. In the United States, cotton is a $7 billion annual crop grown in 17 states from Virginia to Southern California. Today, however, its at risk.

Cotton plants from fields in India, China, and the U.S. the worlds top three producers grow, flower, and produce cotton fiber very similarly. Thats because they are genetically very similar.

This can be a good thing since breeders select the best-performing plants and cross-breed them to produce better cotton every generation. If one variety produces the best-quality fiber that sells for the best price, growers will plant that type exclusively. But after many years of this cycle, cultivated cotton all starts to look the same: high-yielding and easy for farmers to harvest using machines, but wildly underprepared to fight disease, drought, or insect-borne pathogens.

Breeding alone may not be enough to combat the low genetic diversity of the cultivated cotton genome, since breeding works with what exists, and what exists all looks the same. And genetic modification may not be a realistic option for creating cotton that is useful for farmers, because getting engineered crops approved is expensive and heavily regulated. My research focuses on possible solutions at the intersection of these tools.

In a perfect world, scientists could change just a few key components of the cotton genome to make plants more resilient to stresses such as pests, bacteria, fungi, and water limitations. And the plants would still produce high-quality cotton fiber.

Heres the background This strategy isnt new. Some 88 percent of the cotton grown in the U.S. has been genetically modified to resist caterpillar pests, which are expensive and hard to manage with traditional insecticides. But as new problems emerge, new solutions will be required that will demand more complex changes to the genome.

Recent advances in plant tissue culture and regeneration make it possible to develop a whole new plant from a few cells. Scientists can use good genes from other organisms to replace the defective ones in cotton, yielding cotton plants with all the resistance genes and all the agriculturally valuable genes.

The problem is that getting regulatory approval for a genetically modified crop to go to market is a long process, often 8 to 10 years. And its usually expensive.

Genetic modification isnt the only option. Researchers today have access to a gigantic amount of data about all living things. Scientists have sequenced the entire genomes of numerous organisms and have annotated many of these genomes to show where the genes and regulatory sequences are within them. Various sequence comparison tools allow scientists to line up one gene or genome against another and quickly determine where all the differences are.

Plants have very large genomes with lots of repetitive sequences, which makes them very challenging to unpack. However, a team of researchers changed the game for cotton genetics in 2020 by releasing five updated and annotated genomes two from cultivated species and three from wild species.

Having the wild genomes assembled makes it possible to start using their valuable genes to improve cultivated varieties of cotton by breeding them together and looking for those genes in the offspring. This approach combines traditional plant breeding with detailed insights into cottons genome.

We now know which genes we need to make cultivated cotton more resistant to disease and drought. And we also know where to avoid making changes to important agricultural genes.

Blue jeans never go out of style.Jena Ardell/Moment/Getty Images

These genomes also make it possible to develop new screening tools to characterize interspecific hybrids the offspring of two cotton plants from different species. Before this information was available, there were two primary forms of hybrid characterization. Both were based on single nucleotide polymorphisms, or SNPs differences between species in a single base pair, the individual building blocks that make up DNA. Even plants with small genomes have millions of base pairs.

SNPs work well if you know exactly where they are located in the genome, if there are no mutations that change the SNPs, and if there are plenty of them. While cotton has SNPs that have been identified and verified in specific regions of the genome, they are few and far between. So characterizing cotton hybrids by focusing exclusively on SNPs would result in incomplete information about those hybrids genetic composition.

These new genomes open the door for developing sequencing-based screening of hybrids, which is something Ive incorporated into my work. In this approach, scientists still use SNPs as a starting point, but they can also sequence the surrounding DNA. This helps to fill in gaps and sometimes discover new, previously undocumented SNPs.

Sequence-based screening helps scientists make more informed and robust maps of the genomes of hybrids. Determining which parts of the genome are from which parent can give breeders a better idea of which plants to cross together to subsequently create better, more productive cotton in every generation.

As the worlds population rises toward a projected 9.8 billion by 2050, demand for all agricultural products will also rise. But making cotton plants more productive is not the only goal of genetic improvement.

Climate change is raising average global temperatures, and some important cotton-producing regions like the U.S. Southwest are becoming drier. Cotton is already a crop accustomed to heat our research plots can thrive in temperatures as high as 102 degrees Fahrenheit (39 C) but one cotton plant requires about 10 gallons (38 liters) of water over the course of a four-month growing season to achieve its maximum yield potential.

Researchers have started to search for cultivated cotton that can tolerate drought at the seedling stage, and also in hybrid lines and genetically modified lines. Scientists are optimistic that they can develop plants that have higher drought resilience. Along with many other cotton breeders around the world, my goal is to create more sustainable and genetically diverse cotton so that this essential crop can thrive in a changing world.

This article was originally published on The Conversation by Serina Taluja at Texas A&M University. Read the original article here.

LEARN SOMETHING NEW EVERY DAY.

Read more from the original source:
Humans wear cotton every day now, the plant needs genetics' help to survive - Inverse