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Category Archives: Molecular Genetics

Karnataka to set up centre for pandemic preparedness in 6 months to respond to disease outbreaks – The Indian Express

Posted: June 13, 2022 at 2:37 am

With a view to gearing up for tackling new health challenges, the Karnataka government will establish a Centre for Pandemic Preparedness, Centre for Longevity and Bio- Repository Centre at Bangalore Bioinnovation Centre (BBC) in electronic city.

Dr Vishal Rao, member of Karnataka State Vision Group on Biotechnology and regional director (head and neck surgical oncology and robotic surgery) at HCG Cancer Hospital told The Indian Express, We are living on the cusp of pandemic era. In our perpetually complex and interconnected world, the exact nature of the next outbreak is uncertain and hence cant be predicted. At the BBC, Centre for Pandemic Preparedness, for the first time in India, we have achieved a blend of unique experiences and expertise coupled with specialist capabilities to address the multifarious challenges of the pandemic age and respond to outbreaks of disease in close to real time.

The Centre for Pandemic Preparedness will start operations within six months.

Centre for Longevity

The Centre for Longevity, an integral part of the Bangalore Bio-innovation Centre, will foster academia and industry collaborations to conduct research, training and innovation on diverse issues related to pandemic preparedness. The principal collaborators will be the Indian Institute of Science (IISC) Centre for Biosystems and Engineering along with Rajiv Gandhi University of Health Sciences and Emory Vaccine Center, USA.

The Centre for Pandemic Preparedness will draw from and build on research and experience across the key disciplines of public health and epidemiology. We will be a catalyst, enabling a fusion of political, social, economic and cultural expertise from across the world to create insights, new methodologies and breakthrough solutions that can help humanity adapt faster to disease outbreaks. It will enable cross talk between diverse domain experts including epidemiologists, public health experts, data scientists, medical doctors, microbiologists, data analysts, policymakers, International agencies, NGOs, bio pharma manufacturing partners, scientists, and government representatives, Rao said.

Explaining further he added, COVID-19 has taught us that the pathogen itself is only part of the story. In todays world, the social, cultural, economic and political contexts are pivotal and the fallout is much more far reaching and long-lasting. Being prepared in the pandemic era will mean taking this wider context and these broader factors into consideration. It starts by understanding the COVID-19 pandemic for what it truly is, not a one-off crisis to be countered, but a warning as well as a chance to think creatively and plan ahead. We need to making this pandemic the catalyst for developing new ways of working, evolving actionable insights and a deep rooted systemic change.

Bio- Repository Centre

Rao said bio-banks and bio-repositories and research cohorts (including demographic sites) are national assets established with considerable efforts. Recent advances in the tools and technology of molecular biology, genetics, environmental sciences, epidemiology and demography have increased the demand for well-annotated, properly preserved biological specimens and associated epidemiological and demographic data. In response to the demand for personalised medicine, organ and tissue-specific biobanks, cohorts and demographic sites have been or are in the process of being established in several parts of the country, he said.

Dissemination of biological samples

Explaining the role of Bio-Repository Centre, Rao said that bio-banking involves the collection, processing, storage, and dissemination of biological samples and their associated clinical data and information, organised in a systematic way. A well-managed biobank is a critical prerequisite for high-quality biomedical research. Recent advances in the tools and technology of molecular biology and genetics have increased the demand for well-annotated, properly preserved specimens. To address the demand, biobanks have been established in several continents over the past dozen years, and more are in development, Rao said.

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‘Fantastic giant tortoise,’ believed extinct, confirmed alive in the Galpagos – Princeton University

Posted: June 13, 2022 at 2:37 am

A tortoise from a Galpagos species long believed extinct has been found alive and now confirmed to be a living member of the species. The tortoise, named Fernanda after her Fernandina Island home, is the first of her species identified in more than a century.

The Fernandina Island Galpagos giant tortoise (Chelonoidis phantasticus, or fantastic giant tortoise) was known only from a single specimen, collected in 1906. The discovery in 2019 of a female tortoise living on Fernandina Island provided the opportunity to determine if the species lives on. By sequencing the genomes of both the living individual and the museum specimen, and comparing them to the other 13 species of Galpagos giant tortoises, Princetons Stephen Gaughran showed that the two known Fernandina tortoises are members of the same species, genetically distinct from all others. He is co-first author on a paper in the current issue of Communications Biology confirming her species' continued existence.

For many years it was thought that the original specimen collected in 1906 had been transplanted to the island, as it was the only one of its kind, said Peter Grant, Princetons Class of 1877 Professor of Zoology, Emeritus and an emeritus professor of ecology and evolutionary biology who has spent more than 40 years studying evolution in the Galpagos islands. It now seems to be one of a very few that were alive a century ago.

When Fernanda was discovered, many ecologists doubted that she was actually a native phantasticus tortoise. She lacks the striking saddleback flaring of the male historical specimen, though scientists speculated that her obviously stunted growth may have distorted her features. Tortoises cant swim from one island to another, but they do float, and they can be carried from one Galpagos island to another during hurricanes or other major storms. There are also historical records of seafarers moving the tortoises between islands.

Like many people, my initial suspicion was that this was not a native tortoise of Fernandina Island, said Gaughran, a postdoctoral research fellow in ecology and evolutionary biology at Princeton.

To determine Fernandas species definitively, Gaughran sequenced her complete genome and compared it to the genome he was able to recover from the specimen collected in 1906. He also compared those two genomes to samples from the other 13 species of Galpagos tortoises three individuals from each of the 12 living species, and one individual of the extinct C. abingdonii.

We saw honestly, to my surprise that Fernanda was very similar to the one that they found on that island more than 100 years ago, and both of those were very different from all of the other islands tortoises, said Gaughran, who conducted the analyses after arriving at the University in February 2021.

In 2019, he was in the lab of Adalgisa Caccone at Yale University, who is the senior author on the paper.The finding of one alive specimen gives hope and also opens up new questions, as many mysteries still remain, said Caccone. Are there more tortoises on Fernandina that can be brought back into captivity to start a breeding program? How did tortoises colonize Fernandina, and what is their evolutionary relationship to the other giant Galpagos tortoises? This also shows the importance of using museum collections to understand the past.

Museum specimens are a challenge to analyze genetically, but Gaugran has been focused on it for years, developing a tool to compare DNA from ancient specimens to modern samples. His tool is flexible enough to work on many species. The software doesnt care if its a seal or a tortoise or human or Neanderthal, he said. Genetics is genetics, for the most part. Its in the interpretation where it matters what kind of creature the DNA comes from.

At Princeton, Gaughran is working with ecologistsAndrea Graham and Bridgett vonHoldtto unravel pinniped (seal and walrus) evolution.

"Stephen solves conservation mysteries, in species ranging from tortoises to pinnipeds, with the deft and careful application of genetic and bioinformatic tools," said Graham, a professor of ecology and evolutionary biology.

"He has such a curiosity for discovering the messages and codes tucked away in ancient remains," said vonHoldt, an associate professor of ecology and evolutionary biology. "Stephen has been collecting specimens from several hundred years old to a few thousand, and these really hold the keys for understanding the history of when and how genomes changed over time. It is not surprising to me that he also led the effort to unravel the mystery of Fernanda, the fantastic ghost tortoise that has been rediscovered through molecular research. What a cool discovery!"

Since 1906, scant but compelling evidence has hinted that giant tortoises might still live on Fernandina Island, an active volcano on the western edge of the Galpagos Archipelago that is reputed to be the largest pristine island on Earth.

A single specimen of C. phantasticus the fantastic giant tortoise was collected by explorer Rollo Beck during a 1906 expedition. The fantastic nature refers the extraordinary shape of the males shells, which have extreme flaring along the outer edge and conspicuous saddlebacking at the front. Saddlebacking is unique to Galpagos tortoises, and the phantasticus tortoise shows it more prominently than the other species.

Since its 1906 discovery, the survival of the Fernandina tortoise has remained an open question for biologists. In 1964, 18 scats attributable to tortoises were reported on the western slopes of the island. Scats and a possible visual observation from an aircraft were reported during the early 2000s, and another possible tortoise scat was seen in 2014.

The island has remained largely unexplored, due to extensive lava fields blocking access to the islands interior.

Fernandina is the highest of the Galpagos islands, geologically young, and is mainly a huge pile of jagged blocks of brown lava; Rosemary and I once climbed to the top, said Grant, referring to his wife and research partner Rosemary Grant, an emeritus senior research biologist at Princeton. At lower elevations, the vegetation occurs in island-like clumps in a sea of recently congealed lava. Fernanda was found in one of these, and there is evidence that a few relatives may exist in others.

Scientists estimate that Fernanda is well over 50 years old, but she is small, possibly because the limited vegetation stunted her growth. Encouragingly, recent tracks and scat of at least 2 or 3 other tortoises were found during other recent expeditions on the island.

For more than a century, the Fernandina IslandGalpagosgiant tortoise (Chelonoidis phantasticus, or 'fantastic giant tortoise') was known only from this single specimen, collected in 1906.

Photo courtesy of the California Academy of Sciences

Two or three million years ago, a storm carried one or more giant tortoises from the South American mainland westwards. Because they dont swim, the tortoises bred only with others on their own islands, resulting in rapid evolution following the pattern of the better-known Galpagos finches. Today, there are 14 different species of giant Galpagos tortoises, all descended from a single ancestor.

(Some scientists debate whether these should be considered species or subspecies, but the Princeton-Yale team concluded that they are different enough, with thousands of distinctive genetic markers, to be considered separate species.)

Diversification of Galpagos tortoises reveals a continuum of shell shapes, with the easternmost islands' animals showing rounder, domed shells, and the westernmost island Fernandina home to tortoises with the most dramatic saddlebacking. The domed tortoises live in more humid, higher elevation ecosystems, while their saddlebacked cousins inhabit drier, lower elevation environments. All 14 are listed on the IUCN Red List as either vulnerable, endangered, critically endangered or extinct.

The tortoise populations were decimated by European seafarers who hunted them for food, having discovered that they could keep tortoises alive on their ships with minimal effort, as the reptiles could survive with little food or water. They were a great source of fresh meat for the sailors, but it meant that many of the species were severely overhunted, said Gaughran.

The genetic work provides intriguing hints of a mixing of genes with members of another population, said Grant. It would be fascinating if confirmed by future detective work on the genome. Another thought-provoking finding is the nearest relatives are not on the nearest very large island (Isabela) but on another (Espaola) far away on the other side of Isabela. The question of how the ancestors reached Fernandina is left hanging.

Fernanda is now at the Galpagos National Park Tortoise Center, a rescue and breeding facility, where experts are seeing what they can do to keep her species alive.

The discovery informs us aboutrare species that may persist in isolated places for a long time, said Grant. This information is important for conservation. It spurs biologists to search harder for the last few individuals of a population to bring them back from the brink of extinction.

The Galpagos giant tortoise Chelonoidis phantasticus is not extinct, by Evelyn L. Jensen*, Stephen J. Gaughran*, Nicole A. Fusco, Nikos Poulakakis, Washington Tapia, Christian Sevilla, Jeffreys Mlaga, Carol Mariani, James P. Gibbs and Adalgisa Caccone, appears in the June 9 issue of Communications Biology, a Nature family journal (DOI: 10.1038/s42003-022-03483-w). (*These authors contributed equally to the work.) The research was supported by the Galpagos National Park Directorate, the Galpagos Conservancy (GR112688), the Mohamed bin Zayed Species Conservation Fund (GR110489), Re:Wild (5248-0000), Island Conservation, the Ecuadorian Ministry of the Environment, the United States Fish and Wildlife Service, the California Academy of Sciences, and the Yale Center for Research Computing.

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A New Kind of Genome Editing Is Here to Fine-Tune DNA – WIRED

Posted: June 13, 2022 at 2:37 am

We didn't see any indication of their drinking coming back to baseline, so we think that maybe this epigenetic editing will produce a long-lasting effect, Pandey says. I think a lot more work needs to be done in terms of how this can be translated into humans for a therapy, but I have high hopes.

To test that the Arc gene was truly responsible for this outcome, the researchers also designed a Crispr injection meant to decrease its expression. They tested it in rats that werent exposed to alcohol in adolescence. Following the injection, the rats had more anxiety and consumed more alcohol than they did before.

The study raises the possibility that our molecular memory could be revisedor even erased. I'm struck deeply by this work showcasing the feasibility of changing a gene's memory of its experience, says Fyodor Urnov, a professor of genetics at the UC Berkeley and scientific director at the Innovative Genomics Institute of UC Berkeley and UC San Francisco. But, he continues, rats arent humans, and we shouldnt leap to conclusions. The distance between curing a rat and injecting a human being with addiction to alcohol with an epigenetic editor is a formidable one, says Urnov. I think that we are quite a ways away from somebody who has developed a mild drinking problem becoming eligible for a quick injection into their amygdala.

That said, Urnov, who is also the cofounder of Tune Therapeutics, an epigenetic editing company, could see an experimental therapy like this being tested among people with alcohol addiction who have relapsed from treatment several times and have no other therapeutic options left.

Yet, as with directly editing genes, there could be unintended consequences of tweaking their expression. Because Arc is a regulator gene involved in brain plasticity, modifying its expression could have effects beyond alcohol addiction. We don't know what other behaviors are altered by this change, says Betsy Ferguson, a professor of genetics at Oregon Health and Science University who studies epigenetic mechanisms in addiction and other psychiatric disorders. Its a balance between finding something that's effective and something that's not disruptive to everyday life.

Another complicating factor is that the expression of dozens, perhaps hundreds, of genes are altered by alcohol use over time. In people, it may not be as simple as turning up the expression of Arc, which is only one of them. While it may seem like the solution would be to tweak all of those genes, manipulating the expression of many at once could cause problems. Knowing that behaviors, including alcohol use behaviors, are regulated by a number of genes, it's really a challenging problem to solve, Ferguson says.

And its not clear how long the effects of such editing might last. Epigenetic changes that occur naturally can be temporary or permanent, says Ferguson. Some can even be passed onto future generations. Overall, she finds the idea of using epigenetic editing to treat alcohol addiction fascinating, but shed want to see the results replicated and the Crispr treatment tried in larger animals that more closely mimic humans.

That day may not be too far off, as a handful of companies have recently launched to commercialize epigenetic editing. At Navega Therapeutics, which is based in San Diego, researchers are studying how to treat chronic pain by turning down the expression of a gene called SCN9A. When its highly expressed, it sends out lots of pain signals. But it would be a bad idea to simply delete this gene, because some amount of pain is useful; it signals when something is going wrong within the body. (In rare cases, people with an SCN9A mutation that effectively renders it inactive are immune to pain, which makes them vulnerable to injuries they arent able to sense.) In experiments at Navega, epigenetic editing in mice seemed to repress pain for several months.

Urnovs Tune Therapeutics, meanwhile, plans to use epigenetic editing for a broad range of conditions, including cancer and genetic diseases. Though Urnov doesnt see epigenetic editing as the antidote to binge drinking, he thinks this proof-of-concept study shows that it may be possible to rewire our genes experiences to reverse some of the damage of early alcohol abuse. It is empowering, frankly, to consider the fact that we now have genome editing to fight a drugs pernicious action right at the venue where the drug inscribes its memories onto the brain, he says.

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Welcome | Department of Molecular Biology and Genetics

Posted: June 4, 2022 at 1:52 am

Enzyme research unlocks gateway for new medicines

CALS Early Achievement Award - Marcos Simoes-Costa

Former GGD student Cvic Innocent was named as a 2022 Woman in Optics by the International society for optics and photonics.

Advanced microscopy shines light on new CRISPR-Cas system

Cedric Feschotte publishes a study that reveals possible new coronavirus entry points in Cell Reports

E. coli bacteria offer path to improving photosynthesis

RNA analysis at heart of COVID-19 testing

Congratulations to Maureen Hanson - Elected to the American Academy of Arts and Sciences

Maureen Hanson is elected to the National Academy of Sciences

Jun "Kelly" Liu Recipient of the 2021 Robert A. and Donna B. Paul Academic Advising Award

Congratulations to Irma Fernandez - Recipient of the 2021 Graduate Diversity & InclusionExemplary Service Awards for Advanced Career Students

Emr wins $1.2M Shaw Prize in Life Science and Medicine

Pew scholar builds on gene-editing technology

Mann award winner unveils evolution, rules of gene expression

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Genetic structure of Sclerotinia sclerotiorum populations from sunflower and cabbage in West Azarbaijan province of Iran | Scientific Reports -…

Posted: June 4, 2022 at 1:52 am

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Studying Plant Reactions to Environmental Stressors Key to Sustainable Agriculture – Olive Oil Times

Posted: June 4, 2022 at 1:52 am

A team of researchers in Sweden gained new insights into the molecular mechanisms associated with plant reactions to environmental stressors, such as touching, pruning or infection.

The scientists explored the inner working of such reactions and the resulting behavior of the plant, discovering new crucial genetic factors which could impact crop yields.

The Lund University team reiterated that plants react to mechanical stimuli to better cope with specific environmental threats.

The study published in Science Advances explained that mechanical stimulation triggers rapid gene expression changes and affects plant appearance (thigmomorphogenesis) and flowering.

Thigmomorphogenesis is generated by repeated stimulation and includes significant modifications in the plant morphology, such as dwarfism, pithiness, altered mechanical properties of the stem, delayed flowering, improved anchorage strength of roots and reduced stomatal aperture.

Such changes tend to improve the ability of the plants to resist strong winds and improve their response to infection. In addition, these changes might strengthen resilience to cold, salinity, or drought.

The new research and afew other studies exploring similar plant reactions contribute to agrowing knowledge of mechanisms that scientists believe could be crucial to improving farming techniques.

Mechanostimulation has been gaining attention as apotential method for sustainable agriculture practices to improve food security, the researchers wrote.

However, the plant response to mechanical stimulation is very complex, as it depends on the intensity of mechanical load and frequency of exposures, they added. Understanding the molecular mechanism of plant mechanoperception and thigmomorphogenesis is imperative to apply this method for large-scale farming.

Previous research identified molecular mechanisms related to plant mechanoperception. Other studies noted the important relationship between jasmonic acid and touch signaling.

Despite many years of research on how transcriptional responses to mechanical stimulation in plants are controlled, only afew regulators have been identified and consistently validated, the researchers wrote.

Here, we used reverse genetics to further characterize the molecular mechanisms underlying touch signaling, they added.

For example, Olivier Van Aken, abiologist at Lund University, told ScienceAlert magazine: We exposed the plant thale cress to soft brushing, after which thousands of genes were activated, and stress hormones were released. We then used genetic screening to find the genes that were responsible for this process.

According to his colleague Essam Darwish, the study results solve ascientific mystery that has eluded the worlds molecular biologists for 30years.

We have identified acompletely new signaling pathway that controls aplants response to physical contact and touch, he added. Now the search for more paths continues.

The researchers believe that abetter understanding of those mechanisms might bring new opportunities for global agriculture, with climate change and conflicts threatening food security in many regions.

Given the extreme weather conditions and pathogen infections that climate change leads to, it is of utmost importance to find new ecologically responsible ways to improve crop productivity and resistance, Van Aken concluded.

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The New Indian Express uses the term racial purity to make false claims about research on genetic ancestry, Rahul Gandhi furthers the propaganda -…

Posted: June 4, 2022 at 1:52 am

The New Indian Express (TNIE) had recently published a report which claimed that the Central Cultural Ministry is going to study Racial Purity of Indians. It talked about the Ministry of Culture looking forward to acquiring state-of-the-art DNA profiling kits and machines to trace the genetic history and trace the purity of races in India.

The Purity of Races angle in the article comes from the quote of Prof. Vasant Shinde, who serves as the adjunct professor at the National Institute of Advanced Studies in Bengaluru. Shinde notes that his team wants to study the mutation and mixing of genes that has happened in the last 10,000 years. While genetic mutation talks about the interaction of Indians with other populations of the world, studying the same will give us a clear-cut idea of our genetic history.

In the TNIE article, the news of the investigation to trace the genetic history of the Indian population was conflated with researchers studying the purity of races in India. While the concept of race remains purely a social concept and has no biological basis, purity here meant tracing the origins of DNA haplogroups among the Indian population. The deliberate contestation of the two led quite a stir among readers who were perplexed at the unscientific claims of the article. Soon, The Ministry of culture categorically dismissed the article as misleading.

However, it was for Congress MLA Rahul Gandhi to quote the report that was already labelled factually incorrect and to go on indirectly connect the dots with Hitlers racist policies in Nazi Germany. While tracing genetic ancestry had nothing to do with racial purity, Rahul Gandhi saw an opportunity to tag the article and score a political goal. By tagging the misleading piece from TNIE which could have sentimental repercussions and fan polarization in the society, Gandhi wrote on Twitter, The last time a country had a culture ministry studying racial purity, it didnt end well. India wants job security & economic prosperity, not racial purity, Prime Minister.

The Culture Ministry took note of the article in Morning Standard edition of TNIE on 28th May and termed it as misleading, mischievous and contrary to facts. The proposal is not related to establishing genetic history and trace the purity of races in India as alluded to in the article, it said. The statement noted that while the proposal by the Anthropological Survey of India (AnSI) is being examined under merits, it only deals with upgrading the existing DNA lab in Kolkata to next-generation sequencing facilities for certain ongoing projects.

Even after the Ministry of Culture dismissed the report for being factually incorrect, Rahul Gandhi went on to sensationalise the fake news to capitalise on the charged sentiment against the alleged research on racial purity. Central Minister for Culture, G Kishan Reddy lashed out at Gandhi in a tweet saying, Prior to Shri Gandhis tweet (probably from somewhere abroad), the Ministry of Culture, GoI had already flagged this article as misleading. Is he oblivious to this or has he intentionally chosen to further propagate such fake news?

Noted Genetic Scientist Neeraj Rai has lashed out at The New Indian Express for deliberatively publishing a misleading article. Describing the article as mischievous, he said he is upset about his research being described as studying racial purity. DNA research has great potential for improving our understanding of human health and history and should not be used to support discriminatory ideas, he added.

Rai, who heads the ancient DNA Lab at the Birbal Sahni Institute of Palaeosciences, Govt. of India, criticised Rahul Gandhi for his blatant attempt at politicising a scientific investigation. He wrote tagging Rahul Gandhi, Racial purity is not a thing and race is not a biologically supported context. It has been a tool for politicians to propagate racism and should not be conflated with genetic ancestry.

Author and economist Sanjeev Sanyal, who has written several books on Indian history and geography, has noted that this is a classic case of deliberately misleading a scientific study. Archaeo-genetics is a well-established field and attempts to trace the human journey. If anything it establishes that there is no such thing as pure race. Indeed, we are not even a pure species, he wrote.

Author and Scientist Anand Ranganathan, who teaches molecular biology at the Jawaharlal Nehru University asserted that Race is not a biological concept but a social one. Race is not a scientific concept, purity even less so. Not only are 8 Billion Humans 99.97% genetically identical, but the modern Human genome is also but a mishmash of primate, plant, bacterial, parasite, and viral DNA. he tweeted.

While the claims of the article and its purposeful politicization by Rahul Gandhi were criticised left, right and centre, this is not the only instance where a scientific study related to genetics was politicised. The Aryan Invasion Theory, which was used by Dravidian Politicians and leftist historians for decades to claim that the race of Aryans invaded/migrated to India between 2000 BCE and 1500 BCE, was debunked after new research proved that all claims of invasion by a white-skinned Aryan race have been without any scientific basis. DNA studies have established that not only do all people in the Indian subcontinent share a common ancestry, there have been migrations outwards from India, hinting at widespread trade and related migration.

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The New Indian Express uses the term racial purity to make false claims about research on genetic ancestry, Rahul Gandhi furthers the propaganda -...

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Computers will make our drugs in the future – FelixOnline

Posted: June 4, 2022 at 1:52 am

The development of AI and large datasets will help automate the processes of drug discovery and development.

Science

by WangGuo on 31 May 2022

in Issue 1802

Drug discovery is a hard, time-consuming and expensive process. A single drugspends around 10 years in the lab before being released into the market. Furthermore, more than 99% of all the potential drugs end up unsuccessful. The rise of AI, as well as giant databases, seem to promise a new future in which drugs will be developed quicker, but will also be safer and more effective.

Before developing any drug, we need to find a biological site of interest that can be related to a disease. For example, GPCRs are cellular receptors that regulate cell proliferation and are involved in many cancers. Thus, creating drugs targeted at GPCRs is sensible and indeed, GPCRs are one of the main areas of research in our fight against cancer. The discovery of a potential biological site is challenging because sometimes we cannot characterise it entirely and/or delivering the drug to it would not be an easy task. This also means that we need to study many different biological sites, usually thousands of them through experiments, which takes up time and money. Using AI to run simulations of biological sites allows us to screen them much faster as we are not limited by how many experiments we can carry out.

Now that the drug target is identified, we need to actually develop our drug. Traditionally, this is done by humans through trial and error, but maybe in the future, computers could design the drug for us by analysing the structure of the biological site through simulations and dataset evaluation. Large and reliable datasets are essential for machine learning - the process by which computers learn from data as it allows for better performance, and so better and faster drug discovery. Precisely because the datasets must be large, these will arguably force labs and pharmaceutical companies around the world to share the data of their research with each other in order to increase the performance of computers in drug discovery. Could this make patents and IP obsolete? The traditional way of making money from pharmaceutical research would not be as effective as it is today. In that hypothetical future, the benefits of sharing your information are much greater than keeping it for yourself. There are two main types of data: sequence and imaging data. The first one is about the sequences of DNA, RNA and proteins, whereas the second is about structures of molecules/cells like proteins/mitochondria. There is another type of data that has the potential to revolutionise the way we understand genetics and drug discovery: epigenetic data, meaning the changes in gene activity caused by the environment. However, epigenetic data is very variable between individuals. Thus, the data is subject to particular interpretations and may not be easily storable.

Computers acquire information from these large datasets to integrate into their behaviour patterns to optimise their responses in a process called deep learning. The capability of deep learning is unbelievable. With it, computers can determine the structure of proteins by just reading their amino acid sequence. This is a milestone in molecular biology, as predicting how proteins fold has been impossible for humans to determine as there are too many factors to take into account.

Having said that, a world where all drugs are designed by computers is still far away. Even though there are many companies dedicated to this area of research and there are already functional prototypes, the pharmaceutical industry moves very slowly and mass-scaling a product is complicated not only due to logistics but also the necessity to guarantee high efficiency and safety.

To conclude, at present, there is a need for significant investment, in order to develop and commercialise drugs. Pharmaceutical companies and research institutions are under constant pressure to obtain more patents, which do not necessarily succeed in the goal of drugs: to improve peoples quality of life. Not only could computers dramatically accelerate the drug development process, but they might also democratise it by forcing organisations to make their data public.

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OneCellDx and Genetics Institute of America Partner to Launch OncoPredikt HRD Assay – Business Wire

Posted: June 4, 2022 at 1:52 am

CUPERTINO, CA & DELRAY BEACH, Fla.--(BUSINESS WIRE)--OneCellDx and Genetics Institute of America announced today that they have signed a memorandum of understanding for a diagnostics commercialization agreement for the OneCellDx OncoPredikt HRD Assay. Genetics Institute of America will create a laboratory developed test (LDT) based on OneCellDxs proprietary AI Enabled Algorithm and assay. The OncoPredikt assay identifies Homologous Recombination Deficiency (HRD) in cancer patients with quicker turnaround times and lower costs.

Current HRD prediction tests are expensive, time-consuming, require multi-technique processes, and often have sample QC rejection due to low DNA quantity. OneCellDx has developed a proprietary AI-enabled tool to predict key genomic signatures. Genetics Institute of America will run a validation study in its CAP Accredited, CLIA certified facility and launch the laboratory developed test upon successful completion and acceptance of the study.

Our team of scientists and engineers have developed a uniquely impactful solution and are very excited to partner with the team at Genetics Institute of America in bringing OncoPredikt HRD to market, said Mohan Uttarwar, Co-founder and CEO of OneCellDx.

The ability to positively impact patients lives is one of the missions of Genetics Institute of America. Bringing the OncoPredikt HRD test to market will help in accelerating the development of novel pharmaceuticals, improving the care of thousands of patients, said Holly Magliochetti, CEO and Founder of Genetics Institute of America.

OneCellDx will present a poster session on OncoPredikt HRD at the American Society of Clinical Oncology Annual Meeting (ASCO), June 3-7, 2022, Chicago. Genetics Institute of America and OneCellDx will launch the LDT through HRD Pharma Development programs.

About OneCellDx

One Cell Diagnostics, Inc. is a genomics-based Precision Oncology Diagnostics company in Cupertino, CA. We have developed proprietary AI algorithms and leveraging AI and bioinformatics for developing first-in-class, clinically and analytically validated lab tests decoding actionable genetic alterations in individual tumors to help clinicians develop personalized treatment plans for patients. OneCellDx has developed two tests: OncoPredikt HRD - AI-enabled HRD prediction from H/E image, and OncoIndx - NGS-based comprehensive gene panel assays for multiple cancer types to identify key actionable biomarkers. For more information, please visit https://www.onecelldx.com/.

About Genetics Institute of America

Genetics Institute of America is a national high complexity molecular laboratory dedicated to heightening the awareness of early intervention and genetic testing to promote longevity and quality of life outcomes by focusing on DNA, RNA, and Proteins. Our modern CAP Accredited CLIA-certified laboratory facility in Delray Beach, FL, contains the most current technology, allowing us to provide leadership in both research and clinical laboratory testing. For more information, please visit http://www.GenLabUS.com/.

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OneCellDx and Genetics Institute of America Partner to Launch OncoPredikt HRD Assay - Business Wire

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Multiple Diagnoses Are the Norm With Mental Illness and a New Genetic Study Explains Why – Neuroscience News

Posted: May 15, 2022 at 2:03 am

Summary: Study reports an overlap between genetic architecture and co-morbid mental health diagnosis. Researchers found 70% of the genetic signals associated with schizophrenia were also linked to bipolar disorder. Anorexia and OCD have a strong, shared genetic architecture.

Source: University of Colorado

More than half of people diagnosed with one psychiatric disorder will be diagnosed with a second or third in their lifetime. About a third have four or more.

This can make treatment challenging and leave patients feeling unlucky and discouraged.

But a sweeping new analysis of 11 majorpsychiatric disordersoffers new insight into why comorbidities are the norm, rather than the exception, when it comes to mental illness.

The study, published this week in the journalNature Genetics, found that while there is no gene or set of genes underlying risk for all of them, subsets of disordersincluding bipolar disorder and schizophrenia; anorexia nervosa and obsessive-compulsive disorder; andmajor depressionand anxietydo share a common genetic architecture.

Our findings confirm that high comorbidity across some disorders in part reflects overlapping pathways of genetic risk, said lead author Andrew Grotzinger, an assistant professor in the Department of Psychology and Neuroscience.

The finding could ultimately open the door to treatments that address multiple psychiatric disorders at once and help reshape the way diagnoses are given, he said.

If you had a cold, you wouldnt want to be diagnosed with coughing disorder, sneezing disorder and aching joints disorder, Grotzinger said.

This study is a stepping stone toward creating a diagnostic manual that better maps on to what is actually happening biologically.

How the study worked

For the study, Grotzinger and colleagues at University of Texas at Austin, Vrije Universiteit Amsterdam and other collaborating institutions analyzed publicly available genome-wide association (GWAS) data from hundreds of thousands of people who submittedgenetic materialto large-scale datasets, such as the UK Biobank and the Psychiatric Genomics Consortium.

They looked at genes associated with 11 disorders, including: schizophrenia, bipolar disorder,major depressive disorder, anxiety disorder, anorexia nervosa, obsessive-compulsive disorder, Tourette syndrome, post-traumatic stress disorder, problematic alcohol use, ADHD and autism.

In addition, they looked at data gathered via wearable movement tracking devices, and survey data documenting physical and behavioral traits.

Then they applied novel statistical genetic methods to identify common patterns across disorders.

Linked diagnoses

They found 70% of the genetic signal associated with schizophrenia is also associated with bipolar disorder. That finding was surprising as, under current diagnostic guidelines, clinicians typically will not diagnose an individual with both.

They also found anorexia nervosa andobsessive-compulsive disorderhave a strong, shared genetic architecture, and that people with a genetic predisposition to have a smaller body type or low BMI (body mass index), also tend to have agenetic predispositionto these disorders.

Not surprisingly, as the two diagnoses often go together, the study found a large genetic overlap between anxiety disorder and major depressive disorder.

When analyzing accelerometer data, the researchers found disorders that tend to cluster together also tend to share genes that influence how and when we move around during the day.

For instance, those with internalizing disorders, such as anxiety and depression, tend to have a genetic architecture associated with low movement throughout the day.

Compulsive disorders (OCD, anorexia) tend to correlate with genes associated with higher movement throughout the day, and psychotic disorders (schizophrenia and bipolar disorder) tend to genetically correlate with excess movement in the early morning hours.

When you think about it, it makes sense, said Grotzinger, noting that depressed individuals often present as fatigued or low energy, while those with compulsive disorders can have difficulty sitting still.

In all, the study identifies 152 genetic variants shared across multiple disorders, including those already known to influence certain types of brain cells.

For instance, gene variants that influence excitatory and GABAergic brain neuronswhich are involved in critical signaling pathways in the brainappear to strongly underlie the genetic signal that is shared across schizophrenia andbipolar disorder.

Whats next

While much more needs to be done to determine exactly what the identified genes do, Grotzinger sees the research as a first step toward developing therapies that can address multiple disorders with one treatment.

People are more likely today to be prescribed multiple medications intended to treat multiple diagnoses and in some instances those medicines can have side effects, he said.

By identifying what is shared across these issues, we can hopefully come up with ways to target them in a different way that doesnt require four separate pills or four separate psychotherapy interventions.

Meantime, just understanding the genetics underlying their disorders may provide comfort to some.

Its important for people to know they didnt just get a terrible roll of the dice in lifethat they are not facing multiple different issues but rather one set of risk factors bleeding into them all.

Author: Press OfficeSource: University of ColoradoContact: Press Office University of ColoradoImage: The image is in the public domain

Original Research: Open access.Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis by Andrew D. Grotzinger et al. Nature Genetics

Abstract

Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis

We interrogate the joint genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis.

We identify four broad factors (neurodevelopmental, compulsive, psychotic and internalizing) that underlie genetic correlations among the disorders and test whether these factors adequately explain their genetic correlations with biobehavioral traits.

We introduce stratified genomic structural equation modeling, which we use to identify gene sets that disproportionately contribute to genetic risk sharing. This includes protein-truncating variant-intolerant genes expressed in excitatory and GABAergic brain cells that are enriched for genetic overlap across disorders with psychotic features.

Multivariate association analyses detect 152 (20 new) independent loci that act on the individual factors and identify nine loci that act heterogeneously across disorders within a factor.

Despite moderate-to-high genetic correlations across all 11 disorders, we find little utility of a single dimension of genetic risk across psychiatric disorders either at the level of biobehavioral correlates or at the level of individual variants.

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