Category Archives: Human Genetics

A group of researchers based at Rothamsted Research, one of the oldest agricultural research institutions in the world, has responded to a request from the White House, Microsoft, Mark Zuckerberg and others to find a way to rapidly sift through the mountain of COVID-19 scientific data.

Taking time off fromtheir own research, the Rothamsted teamrepurposeda tool they had originally developed to help crop scientists, to provide medical researchers with quick and intuitive access to all documented linkages between genes, medicines, and the virus.

By bringing together COVID-19 related data in one place, the hope is that this will speed up the international search for useful drugs, stop researchers repeating work done elsewhere, avoid harmful interventions, and ultimately, help pave the way to a vaccine.

A US Government-backed call had urged the worlds artificial intelligence experts to develop new text and data mining techniques that could help the science community answer urgent questions related to the deadly outbreak.

Project leader, Dr Keywan Hassani-Pak, originally developed the KnetMiner software to support scientists studying complex plant traits and diseases but together with his team, quickly realized the potential of it to help aid coronavirus research.

Using KnetMiner, medical researchers can now search for genes and keywords, visualize connections between biological concepts and explore knowledge relating to the new coronavirus and COVID-19 disease.

Users can search for drugs related to coronavirus and explore the surrounding connected data. Alternatively, they can investigate what pathways the drugs affect and visualize if any negative downstream effects may be present with using the drug in certain diseased populations.

The genetic component of how SARS-CoV-2 and the human body interact can also be explored.

The software links together almost 170,000 scientific articles, the majority with detailed information about human genes, plus SARS and COVID-19 related proteins, drugs and other medical conditions.

This works out at more than 1.6 million relationships between biological entities something that would take years of searching for, using conventional means.

We have connected the dots in the COVID-19 biomedical data and put the information in a machine-readable format and in context with human genetics, pathogen-host, and drug-target interaction data said Dr Hassani-Pak.

It was mid-March when The White House Office of Science and Technology Policy launched the COVID-19 call to action.

Over 500 scientists, software developers and clinicians joined forces in the COVID-19 virtual Biohackathon at the beginning of April to develop new tools for working with COVID-19 data.

Working from their homes, the team of Joseph Hearnshaw, Dr Marco Brandizi, Ajit Singh and Dr Keywan Hassani-Pak managed to develop the COVID-19 knowledge graph for KnetMiner in less than a month.

Dr Hassani-Pak said: I knew our technology was versatile, but to deliver this within such a short time scale was beyond my expectation and only possible due to a fantastic team and a global effort to make COVID-19 data openly available.

The newly developed biomedical resource offers developers and analysts the opportunity to use our data for new analyses and applications. A full download of our COVID-19 knowledge graph is available on request.

The COVID-19 KnetMiner is available atwww.knetminer.org/COVID-19.

The knowledge graph can be freely accessed through public RDF and Neo4j endpointshttps://github.com/Rothamsted/covid19-kg/blob/master/RawDataEndPoints.md

An example COVID-19 network can be explored and shared athttps://knetminer.com/beta/knetspace/network/424a2a44-24c2-4c2c-80bb-e3493b0de003

The datasets used to build the COVID-19 KG are athttps://knetminer.org/COVID-19/html/release.html

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Rothamsted turn to harvesting coronavirus data - Lab News

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The great flu pandemic of 1889 started in Russia, infecting more than half the inhabitants of Saint Petersburg, then spread rapidly through Europe. Its victims included Prince Albert Victor, the grandson of Queen Victoria. Americans felt safe for a few months until the first infections appeared in New York, and rail travel quickly spread it to other cities across the U.S. The pandemic ultimately killed 1 million people globally; it killed 13,000 in the U.S., which then had a population of 60 million.

I put quotes around flu because thats what, until 15 years ago, most historians and epidemiologists believed it was. Since then, research has uncovered evidence that the 1889 pandemic may actually have been caused by a coronavirus much like todaysSARS-CoV-2 one that leapt to humansfrom cows rather than bats. Indeed, observers of the 1889 pandemic noted a higher frequency of effects on the central nervous system than was typical for other influenza outbreaks. Such symptoms have been a marked feature of the current pandemic, with many people losing their sense of taste or smell, or suffering from brain swelling or immune-system attacks on nerve tissues.

If todays pandemic is a virtual replay of the past, then the 1889 pandemic may predict our future. After further yearly outbreaks through 1895, humans acquired partial immunity to the virus. It turned from a killer into simply one virus among many, mostly causing the common cold. Its still with us today.

Much ofwhat happenedin 1889 sounds eerily familiar. From a seemingly safe distance, U.S. newspapers reported on the rising death toll as the virus swept across Europe. After it reached the U.S., prominent public figures claimed it was nothing to worry about,just the common cold. Some health authorities suggested quinine as a treatment, leading medical specialists to warn about the dangers of self-medication. Those with underlying conditions such as heart disease or kidney problems were most at risk, and many cases of infection led rapidly to pneumonia.

Influenza was widely accepted as the cause of the 1889 pandemic for more than a century. But after the SARS epidemic in 1995 caused by a coronavirus named SARS-CoV biologists used modern gene-sequencing methods to begin comparing viruses infecting humans and other animals. The genetic perspective led to a very different hypothesis about the origin of the 1889 pandemic.

Also read: This is what 1918 Spanish Flu can teach India on how to tackle possible second Covid wave

In 2005, Belgian biologist Leen Vijgen was studying coronaviruses as a Ph.D. student. She and her colleagues founda very close genetic matchbetween one human coronavirus called OC43, and a frequent cause of the common cold and another coronavirus that infects cows but not people. The similarity suggested that these two viruses may well have both descended from a common ancestor, as two branches of a family tree.

The researchers also estimated how long ago this common ancestor might have existed, based on calculations of the rate of mutations, which account for their small genetic differences today. They found that their most recent common ancestor probably existed around 1890, when that virus jumped from one species to another. It could have been the cow virus jumping into a human, or vice versa. Vijgen and her colleagues argued that the former is more likely given other details of the genetics of human and bovine coronaviruses, as well as other closely related viruses.

Theres no smoking gun; the evidence is circumstantial. We may never know for sure, but our current predicament may be less unique than we tend to believe. If we dont find a vaccine, this coronavirus, like others before it, will ultimately infect most everyone, become less deadly as time goes on, and end up as a circulating nuisance causing seasonal colds.

Yet delaying its spread is still important. That delay will save lives as doctors gradually discover better ways to keep those who are infected alive. Bloomberg

Also read: India is Asias new coronavirus hotspot as it overtakes Chinas infection numbers

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The coronavirus crisis is a virtual replay of the past - ThePrint

Bangalore: The State Government will set up a committee to ensure co-ordination between the government and private firms that are engaged in research work to come up with solutions to control the spread of Covid-19 as well as a cure for it.

Deputy chief minister CN Ashwath Narayan on Thursday asked the IT/BT department to set up a committee at the earliest. The deputy chief minister took a decision to this effect after he visited Bengaluru Bio Innovation Centre.

About 45 startups are working at the innovation centre on projects to find a vaccine, medicine and quick testing technology for Covid 19, he said.

Narayan, who holds the IT/BT portfolio as well, interacted with the young entrepreneurs. "I am glad that all startups here are working to find a solution to the pandemic. Some are at clinical trial stage while a few have already applied for with the competent authorities for conducting tests, he remarked.

ROBOT AT WORK: He unveiled the Programmable Robot that would separate the Saliva from the swab in no time. The robot developed by SN Life Sciences has an ability to test eight different samples at a time, he said.

On the overall research work taking place at the innovation centre, he said: "This is a great sign for Bengaluru, Karnataka and India, he said adding that a quick solution will help to ensure a balance between life and livelihood.

He also commended the efforts Neuome Technologies which has a technology that enables on-the-spot testing within 5 minutes for asymptomatic as well as symptomatic cases.

Ashwath Narayan visited the Centre for Human Genetics and Bio Informatics and inspected the lab there.

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Covid-19 research: 45 Bengaluru startups working on medicine, testing methods and vaccine - Economic Times

SAN FRANCISCO--(BUSINESS WIRE)--Vitagene, the precision health company, announced the immediate availability of 50,000 FDA authorized Zero Contact at home COVID-19 test kits for use during the current public emergency. Vitagene is using the 1Health.io platform to facilitate compliance with FDA requirements for assessment of symptoms, telehealth and electronic tracking of the test kit.

Simple At-Home Testing: Currently, consumers who are showing symptoms of COVID-19 infection are expected to drive or take mass transit to a clinic or stay for hours in a drive-through testing line. With the Zero Contact COVID-19 test, patients will get a kit at home eliminating the need to drive or be at risk going to a clinical setting.

Our mission as a team is to help our customers improve their health and wellness, said Mehdi Maghsoodnia, CEO at Vitagene. Our customers number one need right now is access to COVID-19 testing. That is why our team, alongside our partners, have been working day and night to bring this test to market with physician approval, telehealth supervision and a clear chain of custody tracking.

Protect Healthcare Providers: The current COVID-19 tests require that the healthcare provider be in the same room as the patient with symptoms, creating risk of infection for the healthcare provider. Once the traditional specimen collection is conducted, the provider then needs to disinfect their garments to minimize the risk of cross contamination. With Zero Contact, both patients and healthcare workers need not be in the same place while the test is being administered.

Saliva vs. Nasal Testing: Saliva test kits are readily available today; in fact, Vitagene is committed to providing 50,000 tests in the first month of service and scaling that number to 300,000 tests per month beginning in middle of May 2020. Additionally, Vitagene has partnered with supply chain manufacturers to provide the kits, which are manufactured in the U.S., supporting our economy and providing local employment.

Our new, efficient, and self-contained saliva collection kits using the EUA approved SDNA-1000 device, makes not only sample collection easy but sample transport as well, said Stephen Fanning. CEO of Spectrum Solutions. The proprietary preservation solution inactivates the virus once a biosample is collected to the point that we are able to suspend and stabilize the viral RNA transcripts for sensitive and specific qPCR testing by the lab. Another incredible benefit of our process is that we can help limit undue exposure making the testing for COVID-19 safer for everyone involved.

Convenient Access to Testing: Today, many communities do not have convenient access to hospitals or other testing facilities. This - combined with limited nasal test availability - has led to only ~1 percent of people being tested in the U.S. to date. In order to decrease and manage the health and economic risks of COVID-19, we need access to widespread testing. Now, anyone who thinks that he or she might have been exposed can go to Vitagene.com and start the process of being tested.

Our saliva-based test kit makes it possible for patients across the United States to have access to testing, not just those located near a hospital, clinic or testing facility. said Andrew Brooks, chief operating officer and director of technology development at the university's RUCDR Infinite Biologics lab. Millions of Americans, who until now might have to travel hours to their nearest testing location, can be sent a test by their doctor or clinic.

For more information or to order a Zero Contact COVID-19 test, please visit http://www.vitagene.com.

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ABOUT VITAGENE

Headquartered in San Francisco, California, Vitagene Incorporated and its platform division 1health.io are focused on helping consumers improve their health and lifestyle. Vitagene leverages the latest science in machine learning and data analytics, as well as genomics, to provide actionable health plans to consumers. Vitagene keeps all data private and secure and does not share or sell data to third parties. Vitagene has a team of accomplished engineers, scientists and physicians dedicated to improving the health of its customers. To learn more, go to https://vitagene.com/.

ABOUT RUCDR

RUCDR Infinite Biologics, which is part of Rutgers' Human Genetics Institute of New Jersey, is the world's largest university-based cell and DNA repository. Its mission is to understand the genetic causes of common, complex diseases and to discover diagnoses, treatments and cures for them. The organization collaborates with researchers in the public and private sectors throughout the world, providing the highest quality bio-banking services and biomaterials, as well as scientific and technical support. For more information, please visit https://www.rucdr.org/.

ABOUT SPECTRUM SOLUTIONS AND SPECTRUM DNA

Headquartered in Salt Lake City, Utah, Spectrum Solutions and its medical device and services division, Spectrum DNA, focus on innovative, end-to-end product development, manufacturing, and global fulfillment solutions. With concentrated industry expertise, Spectrum DNA specializes in engineering innovative molecular diagnostic solutions that simplify the biosample collection process while offering donors complete physical and digital chain-of-custody. With on-site production facilities, we are a single-source provider of full-service medical device manufacturing, custom and private label packaging, kitting, and direct-to-donor global fulfillment. Our new biosample collection devices, patented technology, and services provide measurable process optimization, unprecedented efficiency, and unmatched global scalability. For more information, please visit https://spectrumsolution.com/.

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Vitagene Launches The First FDA Authorized Saliva based Zero Contact COVID-19 At Home Test - Business Wire

A mutation in the RAD51 gene causes congenital mirror movement disorder (CMM), a disease that prevents the hands from moving independently. This gene could enable scientists to better understand the mechanisms underlying manual motor activity.

Congenital mirror movement disorder is a rare disease that is passed from generation to generation. Those affected do not have the ability to perform different gestures at the same time with both hands: When one hand performs a movement, the other hand automatically performs the same movement against the will of the affected person.

In this disease, it is therefore strictly impossible to have a motor activity with two hands like playing the piano. Sometimes these phenomena can be observed in children, but they usually disappear spontaneously before the age of 10, probably due to the maturation of the motor neuron networks. However, in people with this syndrome, the symptoms appear from early childhood and remain unchanged throughout life.

Read Also: Temple University: Spinal Cord Injury and Optic Nerve Damage Repaired With Growth-Regulating Molecule

In 2010, researchers in Quebec discovered a gene responsible for the disease by analyzing the genome of members of a large Canadian family. Mutations had been identified in the DCC gene (Deleted in Colorectal Cancer). Following this discovery, the Inserm and CNRS research team, as well as doctors from Paris hospitals, coordinated by Emmanuel Flamand-Roze, therefore searched for mutations in this gene in several members of a French family suffering from the congenital disease of mirror movement: without success. The DCC gene was intact, explains Emmanuel Flamand-Roze. When we thought we were close to a cure, we had to look for a mutation in another gene, he adds. His results will be published in the American Journal of Human Genetics.

Using an approach that combines conventional genetic analysis and what is known as global exome sequencing (a new generation genetic analysis technique that allows the sequencing of all the major parts of the genome), the researchers were able to show that the RAD51 gene is responsible for Congenital mirror movement disorder in a large French family and confirmed this result in a German family suffering from the same disease.

The RAD51 gene was known in the scientific community for its potential role in the development of certain cancers and the phenomenon of resistance to chemotherapy, explains Emmanuel Flamand-Roze. So we tried to see if it might have another function that could explain the motor symptoms of this disease.

Read Also: Antibiotics May Increase Your Risk of Having Parkinsons Disease

The human motor system is cross-organized, with the left hemisphere of the brain controlling the motor capacities on the right side and vice versa, with a cross-over in the brainstem. By studying the expression of the protein RAD51 during the development of the motor system in rats, the researchers discovered that this gene might be involved in the crossing of the motor pathways connecting the brain with the spinal cord at the brainstem level.

This discovery opens up a completely new field of research to understand the development of the motor system and to better understand the brain mechanisms that control bimanual motor skills. It could shed light on other motor disorders associated with changes in the fine organization of movement, such as dystonia, or on certain genetic disorders of neurological development.

References

RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans

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Congenital Mirror Movement Disorder Caused by a Mutation in the RAD51 Gene French Study Shows - Gilmore Health News

New information about the new coronavirus (SARS-CoV-2) is constantly emerging, which is critical in the race to develop a vaccine and treatment for Covid-19. In a recent discovery, scientists found that a patients genes may provide clarity on why one young, healthy individual can be almost unaffected by the virus, while another can become seriously ill and end up in the intensive care unit (ICU).

In looking for rare, silent (hidden) gene mutations that are triggered by the virus, researchers are hoping it will take them one step closer to potential treatments.

At risk: Not just older people with underlying illnesses

Its agreed that the Covid-19 virus causes severe disease and kills older people with chronic illness; those with underlying medical conditions such as diabetes and lung disease; and men, at a greater rate than young people.

However, in an unexpected twist, were seeing a minority of patients who are under 50 take up space in ICUs around the world as well without any underlying medical conditions.

Speaking to AFP, and quoted in aScienceAlert article, geneticist Jean-Laurent Casanova director of the human genetics of infectious diseases laboratory jointly based at the Imagine Institute in Paris and Rockefeller University in New York revealed thatthis amounts to roughly five percent of patients:"Someone who could have run the marathon in October 2019, and yet in April 2020 is in intensive care, intubated and ventilated."

Casanovas goal is to find out if these patients may possibly have rare genetic mutations. "The assumption is that these patients have genetic variations that are silent until the virus is encountered," he explained.

The geneticist also co-founded the Covid Human Genetics Effort, which will analyse the genome of younger Covid-19 patients with severe illness in China and Europe, and also hopes to find out why certain people do not become infected, in spite of repeated exposure.

Earlier this month, HealthDay reported on this international study, led by Casanova. It will enrol 500 patients under the age of 50 with no underlying health conditions, and who have been diagnosed with Covid-19 and admitted to ICU.

Gene mutations can also offer protection

Gene mutations may be given a bad rap for making certain people more susceptible to a number of viral infectious diseases, such as influenza, but there is also a positive side.

According to ScienceAlert, researchers found a particularly rare mutation of a single gene, named CCR5, in the 1990s. This mutation actually offered protection against disease in that it stopped people from contracting HIV, laying the foundation for the development of treatments.

How may this help in Covid-19 treatment?

Mark Daly, director of the Institute for Molecular Medicine Finland, told AFP that with a very large sample and collaboration, and the ability to repeat the observation to be confident about the results, as well as recruitment of at least 10 000 patients, their project will hopefully help to develop a treatment.

"There are a huge number of medicines available that target specific genes. If we find a genetic clue that points us to a gene that already has a medication developed, then we could simply repurpose the drug," he said. However, in the event that mutations in genes are found and there arent currently medications available for them, it might make the process more complex.

On 12 May, the virus has infected more than 4.1 million people and killed over 286 000 worldwide, according to a report by theJohns Hopkins Coronavirus Resource Centre.

READ |Coronavirus in SA: All the confirmed cases

READ |Coronavirus crisis has fewer kids getting needed vaccines

READ |Low vitamin D levels and Covid-19 - what researchers found

Image: Getty Images

Compiled by Zakiyah Ebrahim

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Why can two young and healthy individuals be affected so differently by coronavirus? - Health24

Charles Darwins Descent of Man is full of unexpected delights such as the trio of hard drinking, chain-smoking koalas that appear within its first few pages to illustrate our affinity to animals.

Yet Darwins great treatise on human origins is also, in parts, deeply disturbing.

Published a century and a half ago as of February, 2021 many of the opinions expressed in this seminal text (koalas aside) are still pertinent today. Indeed, despite (or rather, because of) the recent revolution in our understanding of genetics, the Descent is more relevant than ever.

Darwins wider musings on mankind have had an immense and lasting influence on our beliefs about human nature and behavior, not just scientifically, but socially and politically as well. And while the more reprehensible later applications of evolutionary theory to human society were not truly Darwinian at all, many troubling arguments about race, class, eugenics and the like can nonetheless be discerned within his Descent of Man.

Darwins intellectual legacy is part of the DNA of modern genetics, within which still lurk like malignant metaphorical retroviruses liable to revival and resurgence many of the odious beliefs that plagued its past.

What follows, therefore, are a few brief illustrative examples of problematic passages in the Descent of Man. The point is not as is common with many of Darwins detractors to simply cherry-pick quotes to make Darwin look bad (although, unfortunately, this is easy to do); rather it is to highlight how Darwin himself struggled with the social implications of his theory and this despite the many decades he had to dwell on these questions. Indeed, the rapid, recent explosion in our knowledge of genetics has not made the situation clearer, but rather more confused.

But lets begin with the contrast of some of the more captivating aspects of the Descent those which provide a glimpse of Darwin as an actual human being. (The on-going fascination with Darwin and the impetus for the seemingly inexhaustible Darwin Industry is not just due to his ideas and his genius, but also because he was a fascinating individual.)

Within the first few pages of Chapter 1, for example, Darwin notes that [m]any kinds of monkeys have a strong taste for tea, coffee, and spirituous liquors: they will also, as I have seen, smoke tobacco with pleasure. Not content with this as a single amusing anecdote of animals addictive affinities to mankind, he proceeds to discuss the three koalas mentioned above ones that acquired a strong taste for rum, and for smoking tobacco and an American Ateles monkey that, after getting drunk on brandy, would never touch it again, and thus was wiser than many men. He also delights in describing the consequences for a group of African baboons of over-indulgence in strong beer:

On the following morning they were very cross and dismal; they held their aching heads with both hands, and wore a most pitiful expression: when beer or wine was offered them, they turned away with disgust

Similar endearing animal anecdotes pepper the rest of the text, culminating after chapter upon chapter of detailed argument and speculation on the evolutionary origins of mankind (plus an extended interlude of the theory of sexual selection) with the rousing conclusion that we should not feel much shame, if forced to acknowledge that the blood of some more humble creature flows in [our] veins.

For my own part I would as soon be descended from that heroic little monkey, who braved his dreaded enemy in order to save the life of his keeper; or from that old baboon, who, descending from the mountains, carried away in triumph his young comrade from a crowd of astonished dogsas from a savage who delights to torture his enemies, offers up bloody sacrifices, practices infanticide without remorse, treats his wives like slaves, knows no decency, and is haunted by the grossest superstitions.

Darwin clearly liked animals better than people. Less facetiously, it is lurid passages such as these that make modern readers uncomfortable. Admittedly, this particular quotation does come straight after another glimpse of Darwin as an actual person; already in his sixties when he wrote these words, he evokes the memories of his 20-something self, aboard the Beagle, on first seeing a party of Fuegians on a wild and broken shore:

The astonishment which I felt will never be forgotten by me for the reflection at once rushed into my mindsuch were our ancestors. These men were absolutely naked and bedaubed with paint, their long hair was tangled, their mouths frothed with excitement, and their expression was wild, startled, and distrustful.

Given a modern appreciation of the manifold horrors of colonialism, it is a thorny question how we should deal with descriptions that clearly reflect the prejudices of their author. Does such obvious subjective opinion, for example, undermine the purportedly objective arguments that accompany it?

In this instance at least we can perhaps make allowances; after all, the first encounter between Darwin a wealthy young man from what was then the most technologically-advanced nation in the world and the Stone Age inhabitants of Tierra del Fuego must indeed have been astonishing. Moreover, unlike his cousin Francis Galton (who both coined and promoted the concept of eugenics), Darwin was not an explicit racist. (His loathing of slavery, for instance, comes across particularly strongly in the Journal of the Voyage of the Beagle.) Yet Darwin was also a product of a time when it seemed patently obvious that the English (and possibly the Scots) were the first among the civilized races. Further, the Descent also reflects the prevailing concept of a human hierarchy, descending from Europeans through the various barbarous, savage or lower races to mankinds closest living relatives amongst the anthropomorphous apes.

In a now-notorious passage, Darwin ranks the native inhabitants of Africa and Australia as just above the gorilla in the natural scale. At the same time, he callously concludes that the civilised races of man will almost certainly exterminate, and replace, the savage races throughout the world.

Nor was Darwins chauvinism confined simply to other races the lower classes of his own society were equally a target for his blatant prejudice. Indeed, as he remarks, at least [w]ith savages, the weak in body or mind are soon eliminated; and those that survive commonly exhibit a vigorous state of health.

We civilised men, on the other hand, do our utmost to check the process of elimination; we build asylums for the imbecile, the maimed, and the sick; we institute poor-laws; and our medical men exert their utmost skill to save the life of every one to the last moment. Thus the weak members of civilised societies propagate their kind. No one who has attended to the breeding of domestic animals will doubt that this must be highly injurious to the race of man.

And it is perhaps here that Darwins legacy even if distorted and exaggerated by the likes of Galton is most worrying in the modern age of embryonic screening, genetic manipulation and, potentially, genetically-enhanced designer babies. Today we are increasingly able to use genetic techniques to eliminate deleterious genes such as those for Huntingtons disease from future generations. But where is the line between an obviously harmful trait and an undesirable one? Is termination of fetuses with Down syndrome actually eugenics? Or what about those screened as having autism?

In Darwins pre-genetic age, these were questions that could not yet be asked, let alone answered. Of more relevance, however, was Darwins personal concern, having married his first cousin, Emma Wedgewood, with the possible inherited ill-effects of inbreeding on his own children. But even here, as he confidently asserts in the Descent, science would eventually come up with an answer:

When the principles of breeding and inheritance are better understood, we shall not hear ignorant members of our legislature rejecting with scorn a plan for ascertaining whether or not consanguineous marriages are injurious to man.

Yet while science can certainly inform our moral (or, in this case, legal) decisions, it cannot decide them facts do not determine values. Darwin half-heartedly acknowledges this when he concedes we ought not check our sympathy [for the weak], even at the urging of hard reason, without deterioration in the noblest part of our nature.

In the concluding paragraph to the Descent of Man, he goes on to claim, we are not here concerned with hopes or fears, only with the truth as far as our reason allows us to discover it. And while many of Darwins own hopes and fears appear inextricably tangled with his subjective version of the truth, it is his final closing description of humankinds noble qualities and exalted powers that perhaps shows the way beyond these ethical dilemmas: the sympathy which feels for the most debased, the benevolence which extends not only to other men but to the humblest living creature, and our godlike intellect which has penetrated into the movements and constitution of the solar system.

Modern genetics now allows us to penetrate into the very constitution of life itself. Informed by the history of what Darwin and his followers got right and what they got wrong, surely we can extend our sympathy, our benevolence and our godlike intellect to confront the moral demons that this new exalted power has conjured in our path.

Patrick Whittle has a PhD in philosophy and is a freelance writer with a particular interest in the social and political implications of modern biological science. Follow him on his website patrickmichaelwhittle.com or on Twitter @WhittlePM

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Viewpoint: Darwin's 'Descent of Man' is both deeply disturbing and more relevant than ever - Genetic Literacy Project

Phase 1/2 Trial of PR001 for Parkinsons Disease with GBA1 Mutations Ongoing; Study Startup ActivitiesProgressing for Phase 1/2 Trials of PR001 for Type 2 NeuronopathicGaucher Disease and PR006 forFrontotemporal Dementia with GRN Mutations

Data Presentations Highlight Potential of AAV Gene Therapy Approach toSlow or Stop Neurodegenerative Disease Progression in Preclinical Models

NEW YORK, May 14, 2020 (GLOBE NEWSWIRE) -- Prevail Therapeutics Inc. (Nasdaq: PRVL), a biotechnology company developing potentially disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases, today reviewed recent business highlights and reported financial results for the first quarter ended March 31, 2020.

We are excited to continue the clinical development of PR001 and are on track to report interim data for a subset of patients from our Phase 1/2 clinical trial of PR001 for Parkinsons disease with GBA1 mutations (PD-GBA) later this year. In addition, we are advancing our AAV gene therapy-based pipeline, with the planned mid-year initiation of Phase 1/2 clinical trials of PR001 for Type 2 neuronopathic Gaucher disease (nGD) and PR006 for frontotemporal dementia with GRN mutations (FTD-GRN), said Asa Abeliovich, M.D., Ph.D., Founder and Chief Executive Officer of Prevail. In addition, at ASGCT and AAT-AD/PD, we presented or will present data that validate the potential of these products for neurodegenerative disease patients with urgent unmet needs, and detailed our ongoing and planned clinical trials.

Recent Business Highlights and Updates:

In addition, study startup activities are continuing for the PROVIDE Phase 1/2 clinical trial of PR001 for Type 2 nGD, and the Company intends to initiate dosing in mid-2020. Prevail also continues to expect to initiate the PROGRESS Phase 1/2 clinical trial of PR001 for Type 3 nGD in the second half of 2020. The timelines for PR001 are subject to any delays related to the COVID-19 pandemic.

Clinical Development of PR006: Study startup activities are also underway for the PROCLAIM Phase 1/2 clinical trial of PR006 for FTD-GRN patients, which is planned to initiate in mid-2020, subject to any delays related to the COVID-19 pandemic.

First Quarter 2020 Financial Results

About Prevail TherapeuticsPrevail is a gene therapy company leveraging breakthroughs in human genetics with the goal of developing and commercializing disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases. The company is developing PR001 for patients with Parkinsons disease with GBA1 mutations (PD-GBA) and neuronopathic Gaucher disease; PR006 for patients with frontotemporal dementia with GRN mutations (FTD-GRN); and PR004 for patients with certain synucleinopathies.

Prevail was founded by Dr. Asa Abeliovich in 2017, through a collaborative effort with The Silverstein Foundation for Parkinsons with GBA and OrbiMed, and is headquartered in New York, NY.

Forward-Looking Statements Related to PrevailStatements contained in this press release regarding matters that are not historical facts are forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended. Examples of these forward-looking statements include statements concerning: the potential impact of COVID-19 on Prevails ongoing and planned clinical trials, business and operations; the potential of Prevails gene therapies to modify the course of neurodegenerative diseases; the anticipated timing of Prevails clinical trials of PR001 in PD-GBA and in nGD and Prevails clinical trial of PR006, including resuming of delayed trials and initiation of new trials; the expected timing of reporting of interim data for a subset of patients from Prevails Phase 1/2 clinical trial of PR001; and expectations regarding Prevails cash runway. Because such statements are subject to risks and uncertainties, actual results may differ materially from those expressed or implied by such forward-looking statements. These risks and uncertainties include, among others: Prevails novel approach to gene therapy makes it difficult to predict the time, cost and potential success of product candidate development or regulatory approval; Prevails gene therapy programs may not meet safety and efficacy levels needed to support ongoing clinical development or regulatory approval; the regulatory landscape for gene therapy is rigorous, complex, uncertain and subject to change; the fact that gene therapies are novel, complex and difficult to manufacture; and risks relating to the impact on our business of the COVID-19 pandemic or similar public health crises.

These and other risks are described more fully in Prevails filings with the Securities and Exchange Commission (SEC), including the Risk Factors section of the Companys Quarterly Report on Form 10-Q for the period ended March 31, 2020, filed with the SEC on or about May 14, 2020, the Companys Annual Report on Form 10-K for the fiscal year ended December 31, 2019, filed with the SEC on March 26, 2020, and its other documents subsequently filed with or furnished to the SEC. All forward-looking statements contained in this press release speak only as of the date on which they were made. Except to the extent required by law, Prevail undertakes no obligation to update such statements to reflect events that occur or circumstances that exist after the date on which they were made.

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Prevail Therapeutics Reports First Quarter 2020 Financial Results and Business Highlights - GlobeNewswire

Emad Babakhanzadeh,1,2,* Ali Khodadadian,1,* Majid Nazari,1 Masoud Dehghan Tezerjani,1 Seyed Mohsen Aghaei,1 Sina Ghasemifar,1 Mehdi Hosseinnia,3 Mahta Mazaheri1,4

1Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; 2Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; 3Department of Biology, Faculty of Science, University of Guilan, Rasht, Iran; 4Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

*These authors contributed equally to this work

Correspondence: Mahta Mazaheri Email mahta.mazaheri2019@gmail.com

Introduction: DiGeorge syndrome critical region gene 8 (DGCR8) contributes to miRNA biogenesis, and defects in its expression could lead to defects in spermatogenesis.Methods: Here, we assess gene and protein expression levels of DGCR8 in the testicular biopsy specimens obtained from men with obstructive azoospermia (OA, n = 19) and various types of non-obstructive azoospermia (NOA) including maturation arrest (MA, n = 17), Sertoli cell-only syndrome (SCOS, n = 20) and hypospermatogenesis (HYPO, 18). Also, samples of men with NOA were divided into two groups based on successful and unsuccessful sperm recovery, NOA+ in 21 patients and NOA in 34 patients.Results: Examinations disclosed a severe decrease in DGCR8 in samples with MA and SCOS in comparison to OA samples (P < 0.001). Also, the results showed DGCR8 has significantly lower expression in testis tissues of NOA group in comparison to NOA+ group (p< 0.05). Western blot analysis confirmed that the DGCR8 protein was not expressed in SCOS samples and had a very low expression in MA and HYPO samples.Discussion: The results of this survey showed that DGCR8 is an important gene for the entire spermatogenesis pathway. Moreover, DGCR8 gene plays an important role in the diagnosis of NOA subgroups, and also the expression changes in it might contribute to SCOS or MA phenotypes. This gene with considering other related genes can also be a predictor of sperm retrieval.

Keywords: DGCR8, obstructive azoospermia, non-obstructive azoospermia, spermatogenesis

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Deficient Expression of DGCR8 in Human Testis is Related to Spermatoge | IJGM - Dove Medical Press

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