Category Archives: Human Genetics

A growing body of evidence is forging a stronger and stronger connection between the onset of Parkinsons disease and the gut. Scientists at Karolinska Institutet in Sweden and the University of North Carolina at Chapel Hill have thrown further weight behind this theory, with an investigation of cellular behavior in the nervous system of the digestive system revealing possible tell-tale signs at the earliest stages of the disease.

The notion that Parkinsons disease could get its start in the gut has been around for some time, but in recent years we are seeing some compelling research that suggests our bellies may well play an important role in its onset. The disease is characterized by the cell death of neurons that secrete dopamine in the brain, which drives the motor impairments and other common symptoms of the illness.

What causes the demise of these neurons is not known for certain, but a leading hypothesis is that it is caused by aggregations of misfolded proteins known as Lewy bodies. An animal study last year produced the best evidence to date that these toxic protein clumps first form in the gut and move upward to the brain via the vagus nerve.

This new research hints at the role the enteric nervous system, as the regulator of digestive system, could play in these processes. Made up of a hundreds of millions of neurons, the bodys largest collection outside the brain, the enteric nervous system can operate independently of the central nervous system and for this reason is sometimes referred to as the second brain.

The authors of the new research studied gene expression in mice in combination with human genetics to systematically identify cell types that underly certain brain disorders. They then analyzed brain tissue taken from both healthy subjects and sufferers of Parkinsons, taken at different stages of the disease. This revealed alterations in enteric neurons, even at the earliest stages of disease progression, the scientists write.

"As expected, we found that dopaminergic neurons were associated with Parkinson's disease, says senior author Patrick Sullivan. More surprisingly, we found that enteric neurons also seem to play an important role in the disorder, supporting the hypothesis that Parkinson's disease starts in the gut.

The teams research also produced another useful insight. By looking at these brain tissue samples taken at different points in disease progression, they found that important support cells in the brain called oligodendrocytes were impacted early on, even before the loss of the dopamine-producing neurons.

These results suggest that oligodendrocyte could be an attractive target for therapeutic interventions as they appear to be affected before dopaminergic neurons, says the Karolinska Institutets Julien Bryois, senior author of the study.

The research was published in the journal Nature Genetics.

Source: Karolinska Institutet via EurekAlert, University of North Carolina at Chapel Hill

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Parkinson's discovery implicates "second brain" in the gut - New Atlas

A patient in Italy receives intensive care for COVID-19. Human geneticists are coming together to look for genes that make some people more vulnerable to the disease.

By Jocelyn KaiserMar. 27, 2020 , 3:25 PM

Sciences COVID-19 reporting is supported by the Pulitzer Center.

COVID-19, caused by the new pandemic coronavirus, is strangelyand tragicallyselective. Only some infected people get sick, and although most of the critically ill are elderly or have complicating problems such as heart disease, some killed by the disease are previously healthy and even relatively young. Researchers are now gearing up to scour the patients genomes for DNA variations that explain this mystery. The findings could be used to identify those most at risk of serious illness and those who might be protected, and they might also guide the search for new treatments.

The projects range from ongoing studies with DNA for many thousands of participants, some now getting infected with the coronavirus, to new efforts that are collecting DNA from COVID-19 patients in hard-hit places such as Italy. The goal is to compare the DNA of people who have serious cases of COVID-19 (which stands for coronavirus disease 2019)but no underlying disease like diabetes, heart or lung diseasewith those with mild or no disease. We see huge differences in clinical outcomes and across countries. How much of that is explained by genetic susceptibility is a very open question, says geneticist Andrea Ganna of the University of Helsinkis Institute for Molecular Medicine Finland (FIMM).

Its hard to predict what will pop out from these gene hunts, some researchers say. But there are obvious suspects, such as the gene coding for the cell surface protein angiotensin-converting enzyme 2 (ACE2), which the coronavirus uses to enter airway cells. Variations in the ACE2 gene that alter the receptor could make it easier or harder for the virus to get into cells, says immunologist Philip Murphy of the National Institute of Allergy and Infectious Diseases, whose lab identified a relatively common mutation in another human cell surface protein, CCR5, that makes some people highly resistant to HIV.

Ganna heads up a major effort to pool COVID-19 patients genetic data from around the world. The idea came quite spontaneously about 2 weeks ago when everyone was sitting at their computers watching this crisis, says Ganna, who is also affiliated with the Broad Institute, a U.S. genomic powerhouse.

He and FIMM Director Mark Daly quickly created a website for their project, the COVID-19 Host Genetics Initiative, and reached out to colleagues who run large biobank studies that follow thousands of volunteers for years to look for links between their DNA and health. At least a dozen biobanks, mostly in Europe and the United States, have expressed interest in contributing COVID-19 data from participants who agreed to this. Among them are FinnGen, which has DNA samples and health data for 5% of the 5 millionperson Finnish population, and the 50,000-participant biobank at the Icahn School of Medicine at Mount Sinai.

The UK Biobank, one of worlds largest with DNA data for 500,000 participants, also plans to add COVID-19 health data from participants to its data set, the project tweeted this month. And the Icelandic company deCODE Genetics, which is helping test much of the nations population to see who is infected with the new coronavirus, has received government permission to add these data and any subsequent COVID-19 symptoms to its database, which contains genome and health data on half of Icelands 364,000 inhabitants, says its CEO Kri Stefnsson. We will do our best to contribute to figuring this out, Stefnsson says.

Another effort to identify protective or susceptibility DNA variants is the Personal Genome Project led by Harvard Universitys George Church, which recruits people willing to share their full genome, tissue samples, and health data for research. Earlier this month, it sent questionnaires to its thousands of participants, asking about their COVID-19 status. More than 600 in the United States responded within 48 hours. It seems that most people want to do their part, says Church, whose group isnt yet part of Gannas collaboration.

Other researchers working with Gannas initiative are recruiting COVID-19 patients directly within hospitals for such genomics studies. Italian geneticist Alessandra Renieri of the University of Siena expects at least 11 hospitals in the nation to give ethics approval for her team to collect DNA samples from willing patients. It is my opinion that [host] genetic differences are a key factor for susceptibility to severe acute pneumonia, Renieri says.

Pediatrics researcher Jean-Laurent Casanova at the Rockefeller University, who specializes in identifying rare genes that can make healthy young people susceptible to certain serious diseases, is drawing on a network of pediatricians around the world to look for the relatively few young people who develop COVID-19 serious enough to get admitted to intensive care. We study exclusively patients who were previously healthy and under 50, as their serious COVID-19 illness is more likely to have a genetic basis, he explains.

In addition to genetic variants of the ACE2 receptor, scientists want to see whether differences in the human leukocyte antigen genes, which influence the immune systems response to viruses and bacteria, affect disease severity. And some investigators want to follow up a finding, which a Chinese team reported in a preprint: that people with type O blood may be protected from the virus. Were trying to figure out if those findings are robust, says Stanford University human geneticist Manuel Rivas, who is contributing to Gannas initiative.

The catastrophic spread of the coronavirus should soon increase the number of COVID-19 patients available to these gene hunts. And that could speed findings. Ganna expects the first susceptibility genes could be identified within a couple of months.

With reporting by Elizabeth Pennisi.

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How sick will the coronavirus make you? The answer may be in your genes - Science Magazine

The question of where the line should be drawn in human gene editing, and if it should be allowed to create superhumans, has been tackled by Doha Debates in the final debate of the Qatar Foundation productions first season under its new concept.

Three experts participated in an intense discussion on the ethics and challenges of human genetic enhancement during the debate at Northwestern University in Qatar, which, due to the global coronavirus pandemic, was held without its usual live student audience.

But the shows interactive nature and role as a platform for dialogue and discourse was preserved byDoha Debates correspondent Nelufar Hedayat, who videoconferenced with students and shared tweets and Instagram videos from viewers in countries including Nigeria, the UK, Sweden, and Ghana.

The debate primarily focused on germline editing, which results in heritable changes to DNA meaning that, if embryonic DNA was edited to produce blue eyes, the genes for blue eyes would be present in a persons children, and their childrens children and has earned the worlds attention and criticism in recent years. Moderator Ghida Fakhry framed the debate by asking whether the aim of gene editing should be to edit out certain debilitating diseases or conditions, and if it will increase global inequality if it is initially only available to those who can afford it.

Professor Julian Savulescu, an ethicist, moral philosopher and the current Uehiro Chair in Practical Ethics at the University of Oxford, claimed gene editing is a moral imperative for society, saying: What matters to each of us is our overall wellbeing.

We measure that in terms of things like happiness, whether we can set our own goals and achieve them, and whether we have deep and substantial interpersonal relationships. Genes dont just affect health; they also affect our capacity for wellbeing and nature doesnt allocate genes equally.

We already use various biological interventions, like iodizing salt because it improves IQ, removing lead from paint because it causes intellectual disabilities, or using prescription drugs to reduce impulsive violence. Theres no difference between environmental and biological interventions and parents should be able to access these technologies to improve their childrens lives, providing the technologies dont harm their children or other people. Science can tell us how to achieve these things, but ethics can tell us whether we should and the promotion of wellbeing is the central ethical principle.

Technology and health care futurist Jamie Metzl, a member of the Human Genome Project-Write consortium, said gene editing is a foregone conclusion, telling the debate: Were already using so many therapies and technologies to improve the human race, and gene editing is no different.

What if we could engineer people to be resistant to a new coronavirus, or to eradicate painful genetic conditions; improve health care so that its not based on averages of the general population, but customized to your own biology; or allow the human race to live on a planet that will eventually become uninhabitable?

However, he acknowledged the risks of gene editing and their capacity to cause division, saying that in order to avoid deepening inequalities and flattening essential genetic diversity, values and ethics must guide these technologies. The issue of haves and have-nots thats one potential outcome, he said. :If we dont want that outcome, wed better start organizing for a different outcome.

Katie Hasson, the program director on Genetic Justice at the Center for Genetics and Society, asked the online audience: Lets really imagine this world, where each babys DNA is being manipulated from the moment of their conception in the lab, where parents immediate desires are written into their future childrens genome, and the generations to come.

Would the traits perceived as the best be available only to the affluent and privileged? Would gene editing dig deeper trenches between the haves and have-nots? Would parents feel pressured to select traits based on narrowly defined cultural and social norms? These are the questions we need to consider, and now is the time to do so.

The practice is not safe, its not needed, and it has the potential to vastly increase the already outrageous inequality that were experiencing. Instead of using gene editing to level the playing field, intellectually and otherwise, we should work to create a society that values people as they are, with a range of abilities and embodiments.

The post-show segment, hosted by Hedayat, sparked a global conversation, with comments and questions streaming in from Nigeria, Afghanistan, and Poland to Sweden, Brazil, and the US. Hedayat interviewed special guest Nawaal Akram, a Qatari disability rights activist, athlete and comedian. who has the genetic condition muscular dystrophy and said that, for her, this debate was personal.

So much time and research is done for the future, but right now, so many people with disabilities cannot afford the medicine, we cannot afford health care, we cannot afford education, she said.

At three points during the debate, the online audience was asked to score each of the debaters three positions. After the opening statements, Hassons anti-gene editing position garnered the strongest support, with 51 percent. By the end of the debate, support for the middle ground and anti-gene editing position was nearly the same, with Metzl receiving 36 percent and Hasson 38 percent, while Savulescu gained 25 percent.

The debates connector, Dr. Govinda Clayton, asked the speakers to broaden their focus to find some very specific points of agreement. All our speakers, whether they felt wary or energized by the potential of gene editing, agreed on one important point, he said. Its filled with risks and challenges, and we cant build a fairer and more inclusive world without broad agreement on its ethical considerations.

To watch the full debate, including the experts views on editing out diseases like cystic fibrosis, visit http://www.dohadebates.com

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Qatar Foundations Doha Debates Places The Future Of Genetics In The Spotlight - Al-Bawaba

Genomics has come a long way since the central dogma (the notion that DNA is the master controller that calls all the shots) and junk DNA (the expectation that much of the genome is non-functional). If scientists ditch those old dogmas and approach the genome expecting to find reasons for things, they often do.

To-may-to or to-mah-to? The British write flavour; the Americans write flavor, but generally each understands the other without too much difficulty. Genomes, too, have alternate ways of spelling things: GGU and GGC in messenger RNA both spell glycine. No big deal, thought geneticists; these silent mutations cause no change in the resulting protein. At the University of Notre Dame, however, biochemists are finding that the differences in spelling are not just background noise; they alter the proteins folding. Is that good or bad?

Synonymous mutations were long considered to be genomic background noise, but we found they do indeed lead to altered protein folding, and in turn impair cell function, said Patricia Clark, the Rev. John Cardinal OHara professor of biochemistry at the University of Notre Dame, and lead author of the study. Our results show that synonymous variations in our DNA sequences which account for most of our genetic variation can have a significant impact on shaping the fitness level of cellular proteins.

Surely many of these mutations are harmful, as are random mutations in humans that cause genetic disease. But E. coli has been around for a long time. Wouldnt the species have gone extinct by now with the accumulation of defective spellings if they are always deleterious? Other work has suggested a secret code in synonymous variations that fine-tunes expression rates or regulates the supply of a given protein based on environmental conditions. The news release only mentions impairments caused by synonymous variations, but Notre Dame teams paper in PNAS suggests some possible advantages:

Synonymous codon substitutions alter the mRNA coding sequence but preserve the encoded amino acid sequence. For this reason, these substitutions were historically considered to be phenotypically silent and often disregarded in studies of human genetic variation. In recent years, however, it has become clear that synonymous substitutions can significantly alter protein function in vivo through a wide variety of mechanisms that can change protein level, translational accuracy, secretion efficiency, the final folded structure and posttranslational modifications. The full range of synonymous codon effects on protein production is, however, still emerging, and much remains to be learned regarding the precise mechanisms that regulate these effects. [Emphasis added.]

A design perspective would consider every possible function before rendering a judgment that all synonymous variations reduce fitness.

Keeping the genome accurate to a high degree preserves it from collapsing due to error catastrophe. At the time of cell division, proofreading enzymes (what a concept!) perform this vital function. Chelsea R. Bulock et al., writing in PNAS, have found one duplication enzyme that proofreads itself while proofreading its partner! DNA polymerase proofreads errors made by DNA polymerase , the paper is titled.

Pol and Pol are the two major replicative polymerases in eukaryotes, but their precise roles at the replication fork remain a subject of debate. A bulk of data supports a model where Pol and Pol synthesize leading and lagging DNA strands, respectively. However, this model has been difficult to reconcile with the fact that mutations in Pol have much stronger consequences for genome stability than equivalent mutations in Pol. We provide direct evidence for a long-entertained idea that Pol can proofread errors made by Pol in addition to its own errors, thus, making a more prominent contribution to mutation avoidance. This paper provides an essential advance in the understanding of the mechanism of eukaryotic DNA replication.

In other words, Pol is a proofreader of a proofreader. The paper says that Pol is a versatile extrinsic proofreading enzyme. One could think of it as a supervisor checking the work of a subordinate, or better yet, as an auditor or inspector able to fix errors before they cause harm to the product. Why would this be necessary during replication? The authors see a seniority system:

Thus, the high efficiency of Pol at correcting errors made by Pol may result from a combination of two factors: the high proclivity of Pol to yield to another polymerase and the greater flexibility and robustness of Pol when associating with new primer termini.

One proofreader is amazing to consider evolving by a Darwinian mechanism. A proofreader of a proofreader is astonishing. Consider, too, that this proofreading operation occurs in the dark by feel, automatically, without eyes to see.

Now that genetics is long past the heady days of finding that DNA forms a code that is translated, additional discoveries continue to show additional codes and factors that contribute to genomic function. One factor is the high-order structure of DNA. Researchers at South Koreas UNIST center have explored further into the formation of this structure, which involves chromatin wrapping around histone proteins so that long strands of DNA can fit within the compact space of the cell nucleus. As with everything else in genomics, the structure doesnt just happen. It requires a lot of help.

Regulation of histone proteins allows the DNA strands become more tightly or loosely coiled during the processes of DNA replication and gene expression. However, problems may arise when histones clump together or when DNA strands intertwine. Indeed, the misregulation of chromatin structures could result in aberrant gene expression and can ultimately lead to developmental disorders or cancers.

Histone chaperones are those proteins, responsible for adding and removing specific histones [found] at the wrong time and place during the DNA packaging process. Thus, they also play a key role in the assembly and disassembly of chromatin.

Cryo-EM imaging allowed the team to envision the molecular structure of some of these chaperone proteins. Their paper in Nature Communications begins, The fundamental unit of chromatin, the nucleosome, is an intricate structure that requires histone chaperones for assembly. Their cryo-EM images of one particular chaperone named Abo1 reveals a six-fold symmetry with precise locations for docking to histones, its hexameric ring thus creating a unique pocket where histones could bind with energy from ATP. Not only is Abo1 distinct as a histone chaperone, they write, but Abo1 is also unique compared to other canonical AAA+protein structures. Like Lego blocks, Abo1 features tight knob-and-hole packing of individual subunits plus linkers and other binding sites, such as for ATP. And unlike static blocks, these blocks undergo conformational changes as they work.

Such sophistication is far beyond the old picture of DNA as a master molecule directing all the work. It couldnt work without the help of many precision machines like this.

These stories are mere samples from a vast and growing literature indicating higher order in the genome than expected. Here are some more samples readers may wish to investigate:

Researchers at the University of Seville found additional factors involved in the repair of DNA strand breaks. These repairs are essential for the maintenance of genome integrity. The factors they discovered help maintain the right tension in cohesin molecules that hold the chromosomes together until the right time to separate. The news was relayed by EurekAlert!and published in Nature Communications.

Remember Paleys Watch? Researchers at the University of Basel discovered that Inner clockwork sets the time for cell division in bacteria. In PNAS and in Nature Communications, the Basel team elucidates the structure and function of a small signaling molecule that starts the clock, which then informs the cell about the right time to reproduce. They report in the news release:

A team at the Biozentrum of the University of Basel, led by Prof. Urs Jenal has now identified a central switch for reproduction in the model bacteriumCaulobacter crescentus: the signaling molecule c-di-GMP. In their current study,published in the journalNature Communications,they report that this molecule initiates a clock-like mechanism, which determines whether individual bacteria reproduce.

Proteins must fold properly to perform their functions. Small proteins usually fold successfully on their own, but large ones can fall into several misfolding traps that are equally likely as the canonical fold. It appears that the sequence of the sequence in a gene has something to do with this. Interestingly, many of these proteins sequences contain conserved rare codons that may slow down synthesis at this optimal window, explain Amir Bitran et al. in a January 21 paper in PNAS, discovering that Cotranslational folding (i.e., folding that begins as the polypeptide exits the ribosome) allows misfolding-prone proteins to circumvent deep kinetic traps.

Design advocates and evolutionists need to fathom what they are dealing with when discussing origins. Theres nothing like some low-level detail to put the challenge in perspective.

Image credit: Caulobacter crescentus, by University of Basel, Swiss Nanoscience Institute/Biozentrum, via EurekAlert!

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More Hints of Order in the Genome - Discovery Institute

The common fruit fly which lives one to two months, suggesting insignificance has changed the world through medical research, leading to eight Nobel prizes in human genetics and disease prevention breakthroughs. Today an even smaller organism, Coronavirus, is changing the world even more significantly.

And confronting it with the same opportunity for breakthroughs as scientists treated fruit flies could hold the key to solving our greatest challenge climate change.

Of course, all of the coronaviruses impacts sickness, deaths, economic crises have been negative. But, like the scientists who saw something unique in the fruit fly instead of just an unwelcome pest, coronavirus offers us a unique opportunity: visceral lessons in how to approach future crises, and the horrible costs of not doing so.

First among those lessons is taking authoritative warnings seriously, even when that may result in tough decisions. We have been warned repeatedly over the last decade that a pandemic was an existential threat to our way of life. At the end of 2019, when the late Chinese doctor Li Wenliang first reported his alarm over a coronavirus outbreak, authorities detained him for spreading rumors. If they had acted on his warning, the spread in China would have been less severe.

But by January 21, 2020 China had 278 confirmed cases, other countries had 282, and the World Health Organization issued its first coronavirus advisory. Instead of preparing for the virus inevitable spread to the United States, President Donald Trump downplayed the risk, comparing it to a bad case of the flu. Two months later, tens of thousands of Americans have tested positive for the virus and millions more are under shelter-in-place rules, threatening to send the global economy into a devastating tailspin.

Unfortunately, weve consistently made these same mistakes of ignoring scientific warnings when dealing with other global crises, especially climate change. Beginning in June 1988, when climate scientist James Hansen warned Congress that global warming had begun, climate scientists predictions have repeatedly and increasingly warned of impending crises, and how climate change is accelerating faster than expected much like the Coronavirus. Sadly, the government response has ranged from non-existent to lacking.

Thirty years after Hansens warning, President Trump dismissed an official U.S. government assessment of climate changes risks in 2018, saying I dont believe it. As temperatures have risen, so too has the cost of inaction. From 1979 to 2017, the cost of global climate change-related disasters has increased 150%, costing $2.25 trillion, with the U.S. bearing the brunt of the financial pain at $945 billion nearly twice Chinas second-highest total of $492 billion.

Fortunately, in the battle against coronavirus, countries like South Korea that embrace science-based health warnings and act decisively are able to flatten the curve of the coronavirus spread to reduce infections and deaths. But when it comes to climate change, despite global accords such as the Paris Agreement, the world is still struggling to act decisively and in unison.

The Trump administration stands out with its rejection of science-based climate change policy, compounding decades of foot dragging by rolling back and undermining Obama administration efforts to rein in and reduce greenhouse gas emissions from coal, oil, and auto tailpipes. As of the end of 2019, a New York Times analysis identified 95 environmental rules that are being rolled back by the White House.

A key Trump environmental program roll back is expected to be finalized by the end of March. The administration is relaxing the auto greenhouse gas and fuel economy standards that President Obama announced in 2012. The first national program to reduce transportation greenhouse gas emissions, it was based on science, engineering capabilities, business capacities, as well as environmental and health benefits. It would have doubled fuel economy to 54.5 miles per gallon (mpg) by 2025, eliminated 6 billion tons of carbon dioxide, and saved consumers $1.7 trillion at the pump. It appeared the U.S. was finally listening to climate scientists.

But in early 2017 with Trump at the helm, the auto industry, amidst several years of record sales and profits, found an opportunity to renege on its commitment to the standards and asked the White House to relax the Obama administrations standards. After extensive analysis, the U.S. Environmental Protection Agencys scientists and auto engineers had recently re-affirmed the program. But facts were no longer in control of the process.

The final rule targets the standards for the 2021-2026 period. It is widely expected to pull back the standards to 37 mpg and reduce the annual fuel economy improvement to 1.5%, down from the current 5%.

Here is the rub. Transportation is now the fastest growing sector driving increased U.S. greenhouse gas emissions. Even the Obama administrations standards, which the Trump administration is trying to scale back, were never enough to address this gorilla in the room. A landmark study by the National Academy of Science in 2013 calculated that the worlds entire fleet of vehicles in 2025 would have to average around 180 mpg to limit warming to safe levels. As detailed in my book, Driving the Future, if we achieved the original 2025 target and enacted rules to continue the 5% annual improvement curve through 2050, we would only reach 80% of the target required to meet the Intergovernmental Panel on Climate Changes (IPCC) earlier target of 2C target of safe warming and the gap will be even greater to reach the new IPCC target of 1.5C.

The only pathway to reaching the IPCCs targets is transportation electrification. The administration should abandon the new rules they are developing, leave the current rules in place and begin work on the post 2025 standards. The auto industry has four to five year planning horizons and needs policy certainty. The world needs to avoid the scale of disruptions that climate change will bring even if the slow pace is deceiving.

The current coronavirus crisis has produced one near-miracle: The bitterly partisan U.S. Congress and federal government are quickly negotiating emergency legislation to deal with the public health and economic crises. Hopefully, reliance on science-based health measures will now guide the countrys approach to combatting coronavirus. And, while the world awaits the worst yet to come in coronavirus infections and deaths, the lessons from this pandemic could result in an approach to bi-partisan, scientifically driven commitment to combat climate change.

Like the seemingly insignificant fruit fly, confronting greenhouse gas and fuel economy standards could produce outsized breakthroughs on climate change. Like the coronavirus, listening to scientific warnings about climate change before it is too late could prevent outsized public health and economic tragedies.

And no, this is not a dream. The reality of global disruption is staring us all in the face. Blinking is not an option.

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The Coronavirus Pandemic Shows Us The Importance Of Combatting Climate Change - Forbes

29 Mar 2020 - 8:18

Dr. Hadi Yassine, Research Projects Manager at Qatar University's Biomedical Research Center, working in a laboratory.

Qatar Universitys Biomedical Research Center (BRC-QU) in collaboration with external entities initiated several research activities focused on coronavirus (COVID-19 and MERS-CoV) lead by Dr. Asmaa Al Thani, Director at QU Biomedical Research Center and Dr. Hadi Yassine, Research Projects Manager at the Center.BRC initiated many researches to fight the emerging (COVID-19). These six researches included, A detailed analysis of exported COVID-19 cases (from China to the rest of the world) which is being done in collaboration with College of Medicine QU and Ministry of public Health (MoPH); Using digital simulation technology to test the ability of some inhibitors to stop COVID-19 binding to its cellular receptors conducted by BRC; Study of the genetics evolution of seasonal and zoonotic coronavirus that infects humans, a research being made in collaboration between The Biomedical Research Center QU and Hamad bin Khalifa University Qatar Foundation; Study the evolution of the Coronavirus (MERS) that causes respiratory syndrome in humans and camels in the Middle East held by The Biomedical Research Center QU, Hamad Medical Corporation (HMC) and (MoPH); A comparative study on the presence and amount of anti-coronavirus antibodies against seasonal and zoonotic coronaviruses in humans in Qatar Published in February 2, 2019 by The Biomedical Research Center QU and MoPH; and Study on the complete structure of the coronavirus spike protein (viral thorn) its pre-bonding form with cellular receptors, published on March 2, 2016 by the National Institute of Health (USA) and Biomedical Research Center QU.In order to reach the various private and public health sectors in Qatar and to build necessary capacities, the Center, and in collaboration with Hamad Medical Corporation (HMC), Ministry of Public Health (MOPH) and international partners, had organized international workshops and including The Fourth International Conference on Human, Animal and Environment Interaction with Emerging Diseases 2017.The conference was the first of its kind in the region and it has received a wide echoes at the local and international levels, where the number of attendees exceeded 300, including 115 from foreign and Arab countries.It is worth mentioning that the Center for Biomedical Research at QU collaborate with various government institutions in the country not only in research, but also in service and outreaching activities. In terms of research, the Center has participated in several research projects with a number of government health (MOPH, MME, HMC, Qatar foundation and other) on antibiotic profiling of antibiotics resistant microbes in humans and animals (One health approach) and others on several viral infections circulating in Qatar.The Center seeks to engage the various sectors in the country in its research projects. In this respect, the Center has cooperated with the industrial sector in Qatar through a research project with ExxonMobil on the DNA sequence of the Dugong (sea cow). The Center is also cooperating with some community institutions, such as Al Gannas Society in Katara in the project titled Decoding the Genetic Code of Qatari Falcons.One of that the most important achievements of the Center is the establishment of a laboratory that matches the third level of laboratory bio-safety by CERTEK International, - United States of America.The Laboratories that specialize in infectious microbes are classified into four levels of bio-safety (BSL1, 2, 3, 4), based on the risk level of the studied microbes. For example BSL-3 laboratories provide safety factors when dealing with or treating infectious, self or exotic factors that are transmitted by inhalation and can cause serious illness.Examples of these germs are the highly pathogenic influenza viruses (H5N1), coronaviruses (MERS / SARS/ COVID-19), and Mycobacterium tuberculosis (TB). Currently, there is only one BSL3 laboratory in Qatar at Hamad Medical Corporation, which has been mandated to diagnose tuberculosis and its respective research.QUs BRC provides practical and logistical procedures to support medical and biological research at the college levels.

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Qatar University's Biomedical Research Center conducting research on COVID-19 - The Peninsula Qatar

Clement Chow, an assistant professor of human genetics at The University of Utah, US, tweeted last week that he was in the ICU with coronavirus. And that's when researchers who had attended a meeting with him found out about it. At a time when experts are stressing on testing and contract tracing to check community transmission, this incident reveals serious and massive gaps in America's fight against COVID-19.

"Hi guys. Have you missed me? Ive been in the ICU fighting...wait for it...Coronavirus! I am the first case at the U of U ICU! Breaking the bamboo ceiling!," tweeted Chow on March 16. He further said, "Basically had a low-grade fever for a few days then a bad cough, that turned into respiratory failure. I came in and they had to put me on high flow oxygen (3 times normal)...hence ICU."

According to a March 20 report in Nature, two dozen geneticists who had attended a meeting with him nine days earlier subsequently saw the tweet and came to know that Chow had tested positive for COVID-19. While the researchers were worried for Chow, they were also upset that this was the first they had heard about it, says the report.

The fact that we learned about this from a tweet points to a failure of our department of health. But maybe we can come together with grass-root responses, Nels Elde, also an associate professor of human genetics at The University of Utah in Salt Lake City, told Nature. He had reportedly shared a dinner plate with Chow before he was diagnosed with COVID-19.

Elde tweeted to Chow on March 16 and said, "Was going through our text messages and your decision to self-quarantine early for cold-like symptoms that you were convinced was not SARS-CoV-2 was a good one and good example for us all. Get well soon @ClementYChow."

Chow further explained that his breathing was so compromised that he could not keep his oxygen levels up even with "10L of oxygen." He said while he was the first COVID19 patient in the ICU on March 19, there are more now. "Important point: we really dont know much about his virus. Im young and not high risk, yet I am in the ICU with a very severe case," said Chow.

Another researcher who had attended the meeting with Chow described how the group from 16 states "scrambled to work out who they had spent time with since returning home from the meeting." "They were upset that four days had passed between when their colleague was hospitalized with symptoms of COVID-19 and when they found out, through Twitter, that he had the disease. Another 24 hours would pass before an email from Utahs public-health departments made it their way. Every passing minute, the virus has a chance to move to someone else," reports Nature.

Meanwhile, the researchers who learned of their exposure through Twitter are taking precautionary measures by taking their temperatures and self-quarantining themselves.

Over 33,270 cases have been reported in the US so far, and 417 have died. New York state accounts for 117 deaths currently, passing Washington state, the initial epicenter of the pandemic in the US, in the number of fatal cases.

According to experts, contact tracing is important as people in close contact with someone who is infected with a virus, such as the COVID-19 virus are at higher risk of becoming infected themselves and of potentially further infecting others.

An analysis of Singapores containment measures that were implemented to minimize disease spread, for example, shows that contact tracing contributed to the primary detection of approximately half (53%) of COVID-19 patients. The study, based on a review of the first 100 cases in Singapore, shows that the mean interval from symptom onset to isolation was 5.6 days and declined after approximately 1 month.

Singapore implemented strong surveillance and containment measures, which appear to have slowed the growth of the outbreak. The study estimated that if other countries had similar detection capacities as Singapore, the global number of imported cases detected would be 2.8 times higher than the observed current number, said the report. It added, The surveillance methods in Singapore complemented one another to identify infected persons, with the overlapping components constituting safety nets; none of the methods alone would have detected all patients.

During a media briefing on March 16, the World Health Organization (WHO) Director-general Dr Tedros Adhanom Ghebreyesus had said that while there has been a rapid escalation in social distancing measures across countries, they have not seen an urgent enough escalation in testing, isolation and contact tracing which, he said, was the backbone of the COVID-19 response. "We have a simple message for all countries: test, test, test, he had emphasized.

Dr Ghebreyesus explained that while social distancing measures can help to reduce transmission and enable health systems to cope, such measures alone would not be enough to "extinguish this pandemic." "Its the combination that makes the difference. As I keep saying, all countries must take a comprehensive approach, he said.

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Coronavirus: Massive gap in US response revealed after scientists learn colleague tested positive through twee - MEAWW

The Dr. John T. Macdonald Foundation is seeking to fund community-based organizations throughout Miami-Dade County with grants up to $50,000 each. Qualified tax-exempt 501(c)(3) organizations conducting grass-roots work that improves, preserves, or restores the health and healthcare of local area citizens have until April 15 to apply.

Since 1992, the Dr. John T. Macdonald Foundation has responded to identified community needs, said Aldo C. Busot, Chairman of the Coral Gables-based nonprofit foundation. Our board is appreciative of the work being done by our grant recipients throughout the community. The Board of Directors remains committed to sustaining its support in meeting the needs of our local community-based organizations. Busot is a senior vice president and financial advisor with Busot Group at Morgan Stanley in Coral Gables, and a graduate of the University of Miami.

From its earliest days, the foundation board wanted the foundation to serve the immediate grassroots needs of both children and adults and has successfully done so by awarding 468 grants to more than 300 community-based organizations over the years.

According to Charles Dunn, M.D., Chairman of the Community Grants Committee, The Community Grants program is the backbone of the foundation. The local organizations that receive funding are providing much-needed services and contribute to the well-being of our community. A graduate of University of Miami School of Medicine, Dr. Dunn is a long-established family medicine practitioner in Coral Gables.

Local organizations that qualified last year for the first-time, during the foundations 2019-20 funding cycle, included Friendship Circle of Miami offering behavioral physical and occupational therapies for children with special needs in Miami-Dade County; and Iam Able, with a county-wide reach for its Able 2 Adapt program that provides mentoring and exercise-based therapy for individuals with paralysis.

Whispering Manes Therapeutic Riding Center also has been funded in past years to support scholarships and new equipment for their equine-assisted program for special needs children all across the county.

Other award recipients include Wounded Veterans Relief Fund, , Fishing With Americas Finest, Miami Lighthouse for the Blind, Canine Assisted Therapy, Good Hope Equestrian Training Center, the Coral Gables Womens Club Childrens Dental Clinic, and Epilepsy Foundation of Florida, among many others.

In addition to community grants, the foundation also has undertaken three signature initiatives in conjunction with UMs Miller School of Medicines Dept. of Pediatrics with the establishment of the Dr. John T. Macdonald Foundation School Health Initiative, the Dr. John T. Macdonald Foundation Dept. of Human Genetics, and the Dr. John T. Macdonald Foundation Biomedical Nanotechnology Institute.

According to the Foundations Managing Director John Edward Smith, Since its inception as a grant-making institution, the Dr. John T. Macdonald Foundation has invested some $48 million into our community. Foundation grants serve as recognition of the admirable work so many community-based organizations are doing across the county to improve the quality of life for citizens.

The Dr. John T. Macdonald Foundation is accepting letters of inquiry for the 2020-21 grant cycle now through April 15, 2020. Funding priorities include:

Projects that promote health education and prevention, and early detection of disease;

Health related projects that assist children and the economically disadvantaged; and

Projects that target medical care.

Qualified organizations that propose to conduct projects or programs related to the health needs of the citizens of Miami-Dade County, and are seeking funding support from the Dr. John T. Macdonald Foundation, should first submit a letter of inquiry. Programs and projects are funded depending upon the budget in the $5,000 $50,000 range. Applications are available online at http://www.JTMacdonaldFDN.org.

ABOUT THE FOUNDATION

With a long legacy of service to the local community, Doctors Hospital in Coral Gables is the genesis of todays Dr. John T. Macdonald Foundation. The foundation grew from the sale of the hospital in 1992. Starting as a grant-making institution with an initial fund balance of $12 million, over the course of the past 20 years, the foundations fund balance has appreciably grown. Today, the foundation continues funding and invest in the healthcare and medical needs of the local community.

The Dr. John T. Macdonald Foundation is located at 1550 Madruga Ave., Suite 215, Coral Gables, FL 33146. For information, call 305-667-6017 or send an e-mail to info@jtmacdonaldfdn.org.

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Dr. John T. Macdonald Foundation seeking to fund community-based organizations with major grant dollars - Miami's Community Newspapers

An assistant professor of psychology at Marietta College says his contract isnt being renewed because of what hes said and was alleged to have said about differences between ethnic groups.

Many academics believe that race is mere social construct -- that there is no meaning behind being black, white or anything else, beyond what society assigns to it. Others say that that is mere orthodoxy and that race is real; this group often points to research demonstrating group-based differences in complex traits such as intelligence.

Scientists at the cutting edge of studying race and complex traits, meanwhile, say that these traits are always a mix between genetics and environment. And as of now, these experts add, its impossible to tell in any genuine way just what the mix is, because babies cant be raised exactly the same way over two generations, as such experiments would require.

Bo Winegard falls in the middle camp and believes that purposely not talking about race-based differences is disingenuous and dangerous. The "rich, variegated tapestry of humanity" and its evolution have long interested him and ought to be among the truths that academics pursue, he said in a recent interview. Otherwise, he added, "literal racists" will fill the information void.

I do think theres an informational embargo on human population variation and certainly on race and IQ, he said. People have opinions, and they dont want those to get out publicly.

Whatever you think of Winegards ideas, he said in a recent essay in the conservative academic publication Quillette, you should care that hes effectively being fired for them.

If it can happen to me, then it can happen to any academic who challenges the prevailing views of their discipline, he wrote. You may disagree with everything I believe, say, and write, but it is in everyones interests that you support my freedom to believe, say and write it.

Trouble Begins

Winegard, who is in his second year at Marietta and is scheduled to leave at the end of the academic year, says the trouble started in October. That's when he was invited to address the University of Alabamas Evolution Working Group, which is affiliated with the universitys evolution studies program. Both parties agreed that Winegard would talk about population variation, or, in his words, the hypothesis that human biological differences are at least partially produced by different environments selecting for different physical and psychological traits in their populations over time.

The idea was to link the theory with natural selection, in line with a recent article Winegard co-wrote for Personality and Individual Differences. The article, called "Dodging Darwin: Race, Evolution and the Hereditarian Hypothesis," says, "Like most hereditarians (those who believe it likely that genes contribute to differences in psychological traits among human populations), we do not believe there is decisive evidence about the causes of differences in cognitive ability." Yet the "partial genetic hypothesis is most consistent with the Darwinian research tradition."

One class visit with students went well, Winegard recalled in Quillette. Then he received a number of texts from a campus host expressing concern about Winegards entry on the website RationalWiki. The website, like Wikipedia, is edited by volunteers, but is dedicated to debunking what it sees as junk science. And Winegard, according to RationalWiki, is guilty of writing racist bullshit for the right-wing online magazine Quillette.

Winegard told his hosts that he disagreed with the characterization. He has previously argued, for example, that racism isnt wrong because there arent races; it is wrong because it violates basic human decency and modern moral ideals.

This, of course, contradicts a broad literature asserting that race is a social construct, not a biological one, but it doesnt endorse racism. As Winegard said in the same co-written article, In fact, pinning a message of tolerance to the claim that all humans are essentially the same underneath the skin is dangerous. It suggests that if there were real differences, racism would be justified.

Despite the texts, Winegards main talk at Alabama went on as scheduled, followed by what he described as a rowdy question-and-answer period. Someone yelled that he was a racist, and another accused him of promoting phrenology, a discredited pseudoscience having to do with skull shape.

But Winegard said via telephone that that he never spoke about phrenology or on race and IQ at Alabama. The most controversial thing he said was that psychology may someday, in the aggregate, provide some explanation as to why East Asian societies tend toward collectivism, he added.

One of his slides, however, did say that groups may vary on socially significant traits (on average) such as intelligence, agreeableness, athleticism, cooperativeness [and] criminality.

Alabamas student newspaper published an article on the talk, vaguely linking the subject matter to eugenics, or reproduction to promote certain heritable traits. It also published an apology from the group that hosted him.

Winegard said this week that he never mentioned eugenics, and that he finds things such as forced sterilization morally repugnant. He didn't preclude having mentioned embryo selection once or twice on Twitter, he said, but he's never made a sustained argument.

Back at Marietta, Winegard was summoned to a meeting with his president and provost to discuss the article. While they werent pleased, Winegard wrote in Quillette, they told [him] to be more strategic in my navigation of such a sensitive topic. I agreed that I would try.

Months later, someone began emailing Winegards department and administration about things hes written and said on Twitter. One tweet, in particular, read, The greatest challenge to affluent societies is dealing openly, honestly, and humanely with biological (genetic) inequality. If we dont meet this challenge, I suspect our countries will be torn apart from the inside like a tree destroyed by parasites.

At a second, consequent meeting with his supervisors, Winegard explained (as he recapped in Quillette) that his tweet was not about groups, but rather about individual genetic differences, and the need to create a humane society for everyone, not just for the cognitive elite and hyper-educated (a theme I discuss often). The simile about parasites was a reference to political conflict and not a reference to some group of humans or another, he also said.

Winegard recalled his bosses expressing disappointment in me and particular dismay about the tweet I had deleted, which they said evoked anti-black and anti-Semitic tropes. He agreed and apologized but said he would continue to pursue potentially controversial research topics.

Termination

Termination never came up, even after Winegard published a co-written article on human population variation -- until two weeks ago.

My boss informed me, without any warning, that the college was not renewing my contract, he wrote in Quillette. I dont know if my paper was the proximate cause of my firing, but in the light of the foregoing weeks tumult, it was plausibly the last straw.

Did Winegard see it coming? I had worried vaguely about such an eventuality, but didnt really think it would happen, he wrote. I naively assumed that the norms of academic freedom would prevail. They did not.

Winegard told Inside Higher Ed that hes had strong teaching evaluations and high research productivity since hes been at Marietta. He sees no apparent reason for his effective termination, apart from the controversy surrounding what he has said and, more to the point, is alleged to have said.

In response to his Quillette article, some have argued that one should wait until tenure to pursue certain topics. But Winegard reiterated that he, perhaps navely, took academic freedom seriously. Beyond that, he said, if academics follow "pragmatic" advice about waiting until tenure to discuss controversial issues, it means waiting 10 or more years, through graduate school and the tenure track.

Im perplexed by the response, he said of Mariettas actions. The best response would have been to come out with a bold, affirmative statement for academic freedom, even if the college distanced itself from Winegards views in doing so.

Otherwise, he said, Youre incentivizing this trollish behavior. Trollish here refers to those Winegard says emailed his institution about him anonymously.

Marietta declined comment, saying Winegards case was a private personnel issue.

Relevant, widely followed American Association of University Professors policy says that even professors on probationary appointments should enjoy the same academic freedom as those with tenure, even if they don't have the same due process protections. Winegard said he's unaware of any paths to appeal, but AAUP policy also holds that a faculty committee should evaluate any concerns about non-reappointment related to a possible violation of academic freedom.

Winegard's department chair did not respond to a request for comment. Marietta's Faculty Council chair also did not respond to questions about the case.

Facts and Feelings

Attempts to link cognition to race have for decades happened mostly in academe's fringes. That's because it's either dog-whistle racist junk science or there is a conspiracy of silence surrounding it, depending on what you believe. In 1994, Richard Herrnstein and Charles Murray's The Bell Curve: Intelligence and Class Structure in American Life was immediately controversial, stirring concerns about lack of peer review and whether it represented mainstream science.

Race-based science debates don't just happen in psychology. In January, for example, Philosophical Psychology faced a boycott for publishing an article in defense of race-based research on intelligence. The gist of that article, written by Nathan Cofnas, a Ph.D. candidate in philosophy at the University of Oxford, was that when advances in science reveal genetic variants underlying individual differences in intelligence, we wont be ready for it.

One of the main criticisms of Cofnas's piece was that it speculated that these breakthroughs are close. They are not. So postulating about them is, in a sense, pseudoscience, critics maintain.

Cofnas said at the time that those "who argue that we should wait for the genetics and neuroscience of intelligence to become more advanced before we attempt to study this issue often claim that, in the meantime, we should accept the environmental explanation for the purpose of policy making" and more. But that is a "political, not a scientific, position."

Journalist Angela Saini, author of the 2019 book Superior: The Return of Race Science (which Winegard has reviewed), said that her research demonstrates there is simply "no conspiracy against talking about race and IQ in academia, largely because this matter was settled 70 years ago -- and reinforced by genetics since -- by the universal understanding that race is a social construct."

It's "impossible to say that any differences in attainment we may see between socially defined groups must be biological in origin," Saini added. "Scientists are overwhelmingly in consensus on this."

That a "few academics like to claim otherwise," she said, "in particular, a small number of social scientists on the margins of respectable academia, does nothing to undermine the scientific facts. The facts, Im afraid, dont care about their feelings."

Intelligence researcher Richard Haier, professor emeritus in the pediatric neurology division at the School of Medicine at the University of California, Irvine, said that the questions Winegard is working on are controversial and emotional -- and well within the bounds of reasonable debate.

What happened at Marietta is, therefore, an apparent violation of academic freedom, Haier said. I dont know all the details, but I do know that it is very hard to defend academic freedom for issues that are not just controversial but also extremely emotional. And a lot of people in academia are happy to say that they support academic freedom but there are many examples of occurrences that appear to violate academic freedom, and the local academic community has not stood up for academic freedom.

Haier added, The hard thing about science is to go where the data take you. Without tenure and even with tenure, its becoming increasingly difficult to address controversial ideas, where some points of view do not acknowledge the legitimacy of other points of view, and therefore shut down discussion. Thats not how science works.

Lee Jussim, distinguished professor of psychology at Rutgers University and co-author of a recent paper on political bias in social science research, said that the topic of race and IQ "is poison." Further, he said, "I see no reason to believe the methods are capable of answering the question of how much race differences in intelligence are genetic versus environmental versus some combination.

That doesn't mean that Winegard or anyone else should be fired for trying to do so, however, Jussim said. Of course he has a right to pursue the line of inquiry.

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Assistant professor says he's been fired because he dared to talk about human population variation - Inside Higher Ed

A female (lower left) and male (top right) Callosobruchus maculatus mating. The mating typically lasts for 2-5 minutes during which the male transfers 40,000-60,000 sperm in an ejaculate weighing about 3-5% of his own body weight.

Males that face tougher competition for females risk having offspring with a greater number of harmful mutations in their genome than males without rivals. Researchers at Uppsala University have discovered this correlation in the beetle speciesCallosobruchus maculatus. Their study is published in the scientific journalNature Ecology & Evolution.

Many researchers working in the fields of human reproductive biology and more general evolutionary theory have taken an interest in this. The hypothesis is not new in itself but there have been few experiments conducted to test it. This is where we hope our study can contribute an important piece of the puzzle, says David Berger of Uppsala Universitys Department of Ecology and Genetics.

Just as with fish, birds and mammals, in the insect world several males often mate with the same female. This leads to a form of sexual selection in which the males sperm compete to fertilise the females eggs. Males that produce more numerous or more competitive sperm often win the competition and become fathers.

Research conducted at the Department of Ecology and Genetics at Uppsala University has succeeded in demonstrating that increased competition between males can lead to a higher rate of harmful mutations in offspring.

Genomic DNA is damaged with every cell division but this damage is usually prevented or repaired by an effective, but costly, cellular surveillance system. The new study shows that sperm production in competing males of the speciesCallosobruchus maculatus, or cowpea weevil, comes at the expense of this cellular surveillance.

In experiments, male beetles were exposed to radiation in order to damage their genome. After a period of recuperation, the males were allowed to mate with females and become fathers. The researchers then followed their offspring to measure the varying quality of subsequent generations and discovered that males kept in groups, with the concomitant risk of sperm competition, had offspring with a greater number of harmful new mutations than those that lived alone.

The researchers behind the study do however point out that competition between males need not lead to deteriorating gene health in the long term. This is because, as the study also shows, males from populations with high sperm competition over many generations adapt to the new conditions by producing more sperm and more viable offspring compared to males adapted to a life of monogamy.

Even if the direct effect of sperm competition is to increase the number of mutations in offspring, the paradoxical long-term effect of sexual selection may be a lower rate of mutation, explains David Berger.

The researchers behind the study explain that both of these mechanisms play important roles in how genetic variation arises and is maintained in species where males compete to mate. This in turn can affect the potential for evolutionary adaptation, which depends on genetic variation.

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Love Rivals Risk Having Offspring with a Greater Number of Harmful Mutations - Global Health News Wire