Category Archives: Transhuman News

Newswise The National Human Genome Research Institute has renewed its collaborative agreement with the Coriell Institute for Medical Research. For another five years, Coriell will continue to manage the NHGRI Sample Repository for Human Genetic Research, a collection of cell lines and DNA for use in research around the world.

The NHGRI Sample Repository for Human Genetic Research is a treasure for genetics research and its an honor to be selected to continue our role as the collections host, said Jean-Pierre Issa, MD, President and CEO of Coriell. The samples contained in this collection were used in several of the mostimportant studies in human genetics and its focus on increasing diversity in human genetics research is potentially transformative.

This collection was first established by NHGRI in 2006 as a public resource for scientists investigating human genetic variation carried by populations living around the world. Fifteen years later, it is still considered one of the most important resources in human genetics and genomics.

The NHGRI Sample Repository for Human Genetic Research contains unique collections of samples such as the landmark International HapMap and 1000 Genomes Projects, which are known for diverse DNA and cell lines characterized by large-scale genomic data.

The future of the NHGRI Repository is exciting, said Laura Scheinfeldt, PhD, Coriells Director of Repository Science and Principal Investigator of the collection. This important collection has supported the human genetics community for many years and will be an important resource to promote the inclusion of global genetic and genomic variation in studies of human health and disease for years to come.

In 2019, the NHGRI Repository joined the Human Pangenome Reference Consortium with Coriells contribution being led by Dr. Matthew W. Mitchell, the Co-Principal Investigator of this collection. This nationwide collaboration was formed in 2019 by distinguished researchers in the field of human genomics to improve the human genome reference sequence and continues to be an important collaborative effort for the NHGRI Repository team at Coriell moving forward.

Over the past five years, the NHGRI Repository has distributed tens of thousands of biospecimens to 47 countries around the world.

About the Coriell Institute for Medical Research

Founded in 1953, the Coriell Institute for Medical Research is a nonprofit research institute dedicated to improving human health through biomedical research. Coriell scientists lead research in personalized medicine, cancer biology, epigenetics, and the genomics of opioid use disorder. Coriell also hosts one of the world's leading biobankscomprising collections for the National Institutes of Health, disease foundations and private clientsand distributes biological samples and offers research and biobanking services to scientists around the globe. To facilitate drug discovery and disease study, the Institute also develops and distributes collections of induced pluripotent stem cells. For more information, visit Coriell.org.

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Coriell Institute Awarded $4.6 Million from National Human Genome Research Institute to Maintain Biobank - Newswise

NEW YORK Long-read sequencing can successfully provide diagnoses in previously intractable hereditary disease cases, according to recent studies, suggesting that long-read, whole-genome sequencing is on track to become the first-line genetic test of choice.

Last month, researchers led by Danny Miller and Evan Eichler of the University of Washington described the use of adaptive sampling on the Oxford Nanopore Technologies GridIon platform to identify previously undetected, disease-causing genomic variation in individuals who remained undiagnosed after a complete clinical genetics work-up. In some cases, this included exome sequencing or short-read whole-genome sequencing.

The team used a targeted approach to find pathogenic or "likely pathogenic" variants in six out of 10individuals with suspected Mendelian conditions and variants of unknown significance in two more.They also were able to identify previously known single-nucleotide variants, copy number changes, repeat expansions, and even methylation differences seen in prior testing of 40 patients, providing more detail on structural changes in about 20 cases.

"There's a cost in genetics of running multiple tests and bringing the patient back," Miller said. "This tech can simplify that process and make the analysis a lot more straightforward. It's beneficial for patients and families and for the healthcare system."

Their results, published in the American Journal of Human Genetics, are congruous with similar studies at the HudsonAlpha Institute for Biotechnology and Children's Mercy Hospital, each using long-read technology from Pacific Biosciences.

"We do find thatas presented here, too, that there is clinically significant genetic variation that is undetectable by short-read sequencing," said Tomi Pastinen, director of the Genomic Medicine Center at Children's Mercy. His team is working on a study of more than 200 cases and presented data on 100 patients at this year's American College of Medical Genetics and Genomics virtual conference. The data out so far are evidence that current methods of genetic testing for rare diseases, whether by short-read sequencing or microarrays, are incomplete, he said.

Pastinen suggested that the targeted approach used in the UW-led paper could be used as "a follow-up tool" for other tests or strong clinical hypotheses. "It's not aquantumleap," he said. "But they testeda number ofpositive controls,which isa nice feature."

Miller said the targeted method used by his team was more proof of concept and that long-read WGS "will eventually be theonly clinical genetic test we do," he said. "Because it's a single dataset, you can query multiple times."

Yet many challenges remain, including developing bioinformatics tools andreference datasetsand building a case for reimbursement.

As the name implies, long-read sequencing provides the ability to analyze longer stretches of the genome without having to piece them together from smaller parts, including regions where short reads crap out, such as repetitive regions. Those regions often contain so-called structural variants and many studies have shown that they are associated with disease, including cancers.

Long reads have been effective in detecting SVs but they have their drawbacks. Generally speaking, they offer lower throughput than short-read platforms and, until recently, had significantly lower single-read accuracy.

And they're not without blind spots. A recent study from the Human Genome Structural Variation Consortium published in the American Journal for Human Genetics analyzed SVs in samples from the 1000 Genomes Project. The study found that assembly-based methods of sequencing, which often are based on long reads, missed some large copy number variants that are detected with other methods.

Still, many researchers, like Miller, believe long read WGS is the future of clinical genetic testing, and the companies that make the technologies, namely PacBio and Oxford Nanopore, are driving proof-of-concept studies. In addition to its collaborationwith Children's Mercy, PacBio is working with Rady Children's Hospital in San Diego on a similar study. It has also partnered with Invitae to build an instrument for clinical long-read WGS. Oxford Nanopore, over in the UK, is developing its "Q Line" of instruments intended for clinical use.

Miller, a resident physician in the UW division of medical genetics with a doctorate in physiology, said he developed his chops on the Oxford Nanopore platform sequencing fruit fly genomes but "always had an eye on what I could do with humans, eventually."

The low barrier to entry made his study an "easier pitch, from the perspective of me, at my training level," he said. While Oxford Nanopore also offers ultra-long reads of up to 4 Mb, Miller said he was fine working with 50 kb to 60 kb reads. "They're very useful and I think they will be useful clinically."

For the study, Miller and his team used a special feature of the nanopore platform: the ability to preselect genomic targets and have the device spit out any reads that don't match. This "read-until" feature was introduced in 2014 but unlocked last year for targeted sequencing.

Miller said it's a fast and "straightforward" way of targeting sequences without using hybridization or amplification chemistries. "You just go to a genome browser, type in a gene, get the coordinates, and put it in a BED file," he said. "Then you're done." Moreover, it's pretty cheap. When purchasing reagents at scale, nanopore sequencing costs about $650 per sample, he said, compared to about $1,000 for short-read sequencing.

Pastinen said he wished the authors had compared the "real-life benefits of targeting reads versus doing Oxford Nanopore whole-genome sequencing."

One advantage of WGS is that it's unbiased, said Susan Hiatt, first author of the HudsonAlpha study, published in April in Human Genetics and Genomics Advances. "Whole-genome long-read sequencingis the best way to go for sure. You cando this targeted sequencing, too, if you know where to look."

In the study, her team found disease-causing structural variants in two out of six cases. "We had a guess there was some sort of structural variant, but we weren't looking for a particular gene or set of genes," she said.

"It's only six cases, so we don't know if that's the real diagnostic rate," Hiatt noted. Establishing a diagnostic yield will be a critical next step for the technology. Her team will be looking at another 200 probands over the course of the year using PacBio's platform. Already, they're seeing results. "It's showing us that we are going to find a significant number of variants," she said.

Finding variants is one thing, but putting them in context will be its own challenge. In the UW study, Miller said they were allowed to tell patients and their providers the study resultsif they wanted to receive them. "We clinically validated some of these findings, but in all cases, the institutional review board did not allow us to interpret the results," he said. "It's going to get even more challenging when we dowhole-genome sequencingand find novelstructural variants. How do you explaina complexexpansion of a repeat that altersmethylation? There will bea lot of interesting genetic counseling with long-read sequencing."

Improving the amount and availability of reference data will be key to making calls about clinical significance, Pastinen said. "In principle, you need reference data on similarly targeted but nonaffected samples," he said. "The data resources are not there yet for a robust rollout of all variants. Most of our reference data is our own data of a very small number of individuals. It's insufficient for high production level analysis."

But WGS had the benefit of generating reference data across the genome, which can be used for future cases. The All of Us project will be generating some long-read data from a "normal" population, but Pastinen said there needs to be more data sharing.

Bioinformatics tools are yet another resource the field still needs to develop. In addition to providing more data, HudsonAlpha's additional cases are giving the researchers a chance to experiment with different bioinformatics pipelines.

"There's a lot of different options out there. This will get us comfortable enough to say, 'This is the way we're going to go, so now we can scale it up,'" Hiatt said. So far, a lot of their pipeline comes directly from PacBio, including their SV caller.

And, of course, the field needs to do the ultimate head-to-head comparison with short reads, which would be a start to solving the problem of reimbursement.

"There hasnt, to my knowledge, been a systematic study comparing the incremental diagnostic rate of long reads over short reads," Miller said. "Thats probably what we really need to get payors to reimburse for the test."

"I don't know how insurance will respond," he added. "Justshowingwe can solve rare disease cases, I don'tknow if that's enough."

Excerpt from:
Studies Show Benefits of Long-Read Sequencing in Toughest Rare Disease Cases - GenomeWeb

By Dr Leora Fox August 30, 2021 Edited by Dr Sarah Hernandez

A team of scientists recently created an innovative genetic system where a drug taken by mouth could be used to control the action of a gene editor, like those used in CRISPR systems. This has useful applications for research studies in cells and animals, and perhaps most importantly, could lead to improvements in the safety and accuracy of future gene therapies in humans. The technology can be applied broadly for studying genes and diseases, and was developed by researchers with HD expertise, incorporating a drug that is relevant to HD. Though actual clinical trials are a long way off, the company that has recently licensed the technology has an existing interest in HD.

Although the methods for delivery of gene therapies have improved vastly in recent years, it hasnt yet been possible to control the actions of those therapies once they reach their targets in the brain or other parts of the body. Ideally, when modifying human genetics, wed want to be able to fine-tune things like the location of the genetic change, the amount of change that occurs at once, and the ability to stop the change in surrounding cells if it proves harmful those last two have proved to be a particular challenge in gene editing, until now.

A recently developed genetic switch system, dubbed Xon, addresses some of these challenges in a novel way. It was created by a team of scientists led by Beverly Davidson at the Childrens Hospital of Philadelphia, joined by researchers at the pharmaceutical company Novartis. The idea behind Xon was to create a gene editing technology that could be precisely delivered and then controlled over time using a drug that acts like an on/off switch.

Imagine a red traffic light that is on all the time, and can only be disabled with a special tool. Theres no way to move forward until the red light turns off. With the Xon system, scientists can put a stoplight in front of any gene, by inserting the gene and the stoplight together into a genetic package and delivering it to cells in a dish or in a living animal. The new gene is present but inactive, meaning it cant produce messages or proteins, until the stoplight is removed. But when a particular drug reaches the cell, it acts as the tool that turns off the genetic stoplight, activating the gene.

The reason that this is an exciting scientific innovation is that the Xon system allows researchers to insert a gene and turn it on and off by simply adding a drug to a dish of growing cells, or by giving the drug to a research animal. This could be a new way to understand what happens when there is too much or too little of a given gene or protein, or to create a disease model to easily explore genetic interventions at different time points during aging.

In a recent publication in the journal Nature, Davidsons team tested the technology using a variety of genes involved in neurodegenerative diseases and cancers to show that their levels could be controlled based on when and how much of the stoplight-disabler drug was given.

Even more interesting is the potential application of the Xon system to technologies like CRISPR and the future of gene editing as a therapeutic. This recent paper demonstrates the ability of the Xon system to be combined with CRISPR-Cas9 technology, for more precise control of CRISPR editing using a drug fed to mice. Davidsons team demonstrated this using an artificial gene that can make a mouses liver cells glow green. But ultimately the hope is that it could be applied to human therapies.

A system that can help us gain better control of CRISPR gene editing is an exciting prospect because it provides more hope of safely adapting this technology for future medicines. This is not currently possible for most diseases, because direct, irreversible changes to human DNA can have drastic consequences. We wrote recently about the first ever successful safety trial of a CRISPR drug for a human disease that commonly affects the liver. Although it would be marvelous in theory to cut out or correct the HD gene in people, the knife-like CRISPR system almost always leads to additional unwanted changes in other genes. This is why weve so often emphasized that gene editing needs to come a long way before we can apply it to the treatment of human brain cells, which cant be regenerated like cells in the liver.

Coupling Xon with a CRISPR-Cas9 system that targets a disease gene (like the HD gene) would mean that an oral drug could turn the gene editor on and off. The dose could also be adjusted to control the amount of gene editing not just acting as a tool to disable the red stoplight, but also acting as a dimmer switch for precise regulation. Most importantly for safety, if anything went awry, the treatment could be stopped to prevent further changes to their DNA. Right now this is all theoretical, because the Xon system and other gene editing dimmer switches are in early developmental stages. Nevertheless, this publication hints at the possibility of applying it to therapies in people, and Novartis has licensed the Xon technology.

First and foremost, we know that HD is caused by a change to a single gene, so it has always been a prime candidate for genetic therapies, and dozens of researchers and companies worldwide are developing innovative solutions to treat HD at its source. HDBuzz (and HD researchers) always have an eye out for new technologies that improve upon existing methods. Furthermore, the leaders of the team that published the recent Nature paper are respected HD researchers who have devoted much of their careers to the development of gene therapies.

However, the main reason this publication has popped up as news for the HD community is that the Xon system actually relies on an existing drug to flip the gene editing switch and that drug is none other than branaplam. Yep, branaplam, the oral drug developed to treat children with SMA, which Novartis will soon be testing in clinical trials for adults with Huntingtons disease.

This does not mean that Xon gene editing has any part in upcoming trials for HD. It simply means that branaplam, a drug with genetic cut-and-paste abilities, forms part of an elegant new system that can be adjusted to control the activity of any gene scientists want to study. Dimmer switch systems for gene editing could potentially be designed to use a completely different drug, but in these early experiments, Xon and its precise control with branaplam has stood up to many tests of flexibility and accuracy.

The Xon system is a really cool early-stage technology, and though its not ready to be applied to human treatments, it is a novel element of the gene editing toolbox. Furthermore, it was created by researchers with HD expertise, and has now been licensed by a major pharmaceutical company which is already invested in HD therapeutics. That bodes well for its continued development in the study and potential treatment of HD and related genetic disorders.

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Another tool in the box: Creation of a molecular dimmer switch advances gene editing - HDBuzz

A new study by theUniversity of Oxford, Baylor College of Medicine, theUniversity of Wisconsin-Madison, and Bayer AG have identified the genetic cause of endometriosis and potential drug target. This groundbreaking discovery was achieved by performing genetic analyses of humans and rhesus macaques. Scientists offered new insight into treating this debilitating disease, which is welcome news for the 1 in 10 women who suffer from this debilitating disease.

What is endometriosis?

Endometriosis (pronounced en-doe-me-tree-O-sis) is a chronic and painful disease in which tissue similar to the tissue that normally lines the inside of the uterus (the endometrium),grows outside the uterus. Endometriosis most commonly targets the ovaries, fallopian tubes, and the tissue lining the pelvis. Seldomly, endometrial-like tissue may be found in the intestines.

With endometriosis, the endometrial-like tissue acts as endometrial tissue would in a healthy woman. It thickens, breaks down, and bleeds with each menstrual cycle.

However, as this tissue has no way to exit the body, it becomes trapped. This is where the problems start.

When endometriosis involves the ovaries, cysts calledendometriomasmay form. The surrounding tissue may become irritated, eventually developing into scar tissue and adhesions (bands of fibrous tissue that can cause pelvic tissues and organs to stick to each other).

Endometriosis causes pain, sometimes severe pain; especially during menstrual periods. Fertility problems can also develop. Fortunately, effective treatments are available but are limited.

Lets delve into the details

Scientists found that a specific gene calledNPSR1increases the risk of endometriosis. The results uncovered a potential drug target for improved endometriosis therapy, which is currently quite limited.

In an earlier study, scientists discovered a genetic linkage to endometriosis on chromosome7p13-15 in DNA. Subsequently, this finding was confirmed in the DNA of rhesus monkeys with spontaneous endometriosis.

This validation supported further research through in-depth sequencing analysis of the endometriosis families at Oxford, which narrowed down the genetic cause to rare variants in the NPSR1 gene.

This new study involved more than 11,000 women, including patients with endometriosis and healthy women. They identified a specific common variant in the NPSR1 gene also associated with stage III/IV endometriosis.

Jeffrey Rogers, Associate Professor at the Human Genome Sequencing Center at Baylor, expressed his enthusiasm at these findings:

This is one of the first examples of DNA sequencing in nonhuman primates to validate results in human studies and the first to make a significant impact on understanding the genetics of common, complex metabolic diseases. The primate research helped to provide confidence at each step of the genetic analysis in humans and gave us the motivation to carry on chasing these particular genes.

Using NPSR1 inhibitors, scientists blocked the protein signalling of that gene in cellular assays. In doing so, they were able to reduce inflammation and abdominal pain. This treatment identified a target for future research in treating endometriosis.

Krina Zondervan, Professor of Reproductive and Genomic Epidemiology, further commented on the findings:

This is an exciting new development in our quest for new treatments of endometriosis, a debilitating and underrecognized disease affecting 190 million women worldwide. We need to do further research on the mechanism of action and the role of the genetic variants in the modulation of the genes effects in specific tissues.

However, we have a promising new nonhormonal target for further investigation and development that appears to address the inflammatory and pain components of the disease directly.

These findings are welcome news to the millions of women who suffer from Endometriosis and provide some peace of mind to those who have been newly diagnosed.

The findings in this article were taken from the journalNeuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis.

Read more from the research article,here.

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Breakthrough: Scientists Have Identified Genetic Cause Of Endometriosis, Leading To Potential Treatment - GreekCityTimes.com

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Aisha Pandor is a stunning local woman who is celebrated for being an inspiration after launching her company known as SweepSouth. The company is Africas first online end-to-end platform for booking, managing, and paying for home cleaning services.

According to a Facebook post shared by Sapientis Advisory, Pandor is the co-founder and CEO of SweepSouth, and she is one of very few black female tech startup CEOs both in South Africa and internationally.

According to media reports, Pandors company has expanded into Kenya and are poised to launch in Nigeria. The bubbly woman is celebrated on social media platforms for her ambitions and influence on many locals and Africans.

Women24 reports that Pandor is a proud holder of a PhD in Human Genetics through the University of Cape Town.

Enjoy reading our stories? Download the BRIEFLY NEWS app on Google Play now and stay up-to-date with major South African news!

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In a similar story, Briefly News reported that Ncumisa Miesah Mkabile shared her inspiring story of making it through the pandemic. Ncumisa had to close down her takeaway business, which was her only source of income, but this did not stop her from working hard.

The 27-year-old started selling chicken and going door to door to do her deliveries.

After realising there was a demand for supplies from others who wanted to start their own business, Ncumisa jumped at the gap in the market. In late May 2020, Ncumisa got her hands on some land where she planted 20 000 spinach seeds.

She got more land a few months later where she planted 20 000 green pepper seeds and now supplies huge supermarkets.

Source: Briefly.co.za

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Meet Aisha Pandor: The Scientist With PhD and Started Own International Company South Africa news - Briefly

There are people who argue, persuasively, that Hollywood films are worse than they used to be. Or that novels have turned inward, away from the form-breaking gestures of decades past. In fact, almost anything can be slotted into a narrative of decline the planet, most obviously, but also (per our former president) toilets and refrigerators. One of the few arenas immune to this criticism is science: I doubt there are very many people nostalgic for the days before the theory of relativity or the invention of penicillin. Over the centuries, science has just kept racking up the wins. But which of these wins limiting ourselves to the last half-century mattered most? What is the most important scientific development of the last 50 years? For this weeks Giz Asks, we reached out to a number of experts to find out.

Research Assistant, Social Sciences, Humboldt University of Berlin

A bit more than 50 years ago, but I would say the most influential were the related developments of the Journal Impact Factor and the Science Citation Index (precursor of todays Web of Science) by Eugene Garfield and Irving H. Sher between 1955 and 1961.

These developments laid the groundwork for current regimes of governance and evaluation in academia. Their influence on the structure of science as we know it can hardly be overestimated: Today, it is difficult to imagine any funding, hiring, or publication decision that does not draw in some way either directly on the JIF or data from the Web of Science, or at least on some other form of quantitative assessment and/or large-scale literature database. Additionally, the way we engage with academic literature and hence how we learn about and build on research results has also fundamentally been shaped by those databases.

As such, they influence which other scientific developments were made possible in the last 50 years. Some groundbreaking discoveries might have only been possible under this regime of evaluation of the JIF and the SCI, because those projects might not have been funded under a different regime but also, its possible that we missed out on some amazing developments because they did not (promise to) perform well in terms of quantitative assessment and were discarded early on. Current debates also highlight the perverse and negative effects of quantitative evaluation regimes that place such a premium on publications: goal displacement, gaming of metrics, and increased pressure to publish for early career researchers, to name just a few. So while those two developments are extremely influential, they are neither the only nor necessarily the best possible option for academic governance.

Professor, History of Science, Stanford University, whose research focuses on 20th century science, technology, and medicine

That would surely be the discovery and proof of global warming. Of course, pieces of that puzzle were figured out more than a century ago: John Tyndall in the 1850s, for example, showed that certain gases trap rays from the sun, keeping our atmosphere in the toasty zone. Svante Arrhenius in 1896 then showed that a hypothetical doubling of CO2, one of the main greenhouse gases, would cause a predictable amount of warming which for him, in Sweden, was a good thing.

It wasnt until the late 1950s, however, that we had good measurements of the rate at which carbon was entering our air. A chemist by the name of Charles Keeling set up a monitoring station atop the Mauna Loa volcano in Hawaii, and soon thereafter noticed a steady annual increase of atmospheric CO2. Keelings first measurements showed 315 parts per million and growing, at about 1.3 parts per million per year. Edward Teller, father of the H-bomb, in 1959 warned oil elites about a future of melting ice caps and Manhattan under water, and in 1979 the secret sect of scientists known as the Jasons confirmed the severity of the warming we could expect. A global scientific consensus on the reality of warming was achieved in 1990, when the Intergovernmental Panel on Climate Change produced its first report.

Today we live with atmospheric CO2 in excess of 420 parts per million, a number that is still surging every year. Ice core and sea sediment studies have shown that we now have more carbon in our air than at any time in the last 4 million years: the last time CO2 was this high, most of Florida was underwater and 24.38 m sharks with 8-inch teeth roamed the oceans.

Coincident with this proof of warming has been the recognition that the history of the earth is a history of upheaval. Weve learned that every few million years Africa rams up against Europe at the Straits of Gibraltar, causing the Mediterranean to desiccate which is why there are canyons under every river feeding that sea. We know that the bursting of great glacial lakes created the Scablands of eastern Washington State, but also the channel that now divides France from Great Britain. We know that the moon was formed when a Mars-sized planet crashed into the earth and that the dinosaurs were killed by an Everest-sized meteor that slammed into the Yucatan some 66 million years ago, pulverizing billions of tons of rock and strewing iridium all over the globe. All of these things have been only recently proven. Science-wise, we are living an era of neo-geocatastrophism.

Two things are different about our current climate crisis, however.

First is the fact that humans are driving the disaster. The burning of fossil fuels is a crime against all life on earth, or at least those parts we care most about. Pine bark beetles now overwinter without freezing, giving rise to yellowed trees of death. Coral reefs dissolve, as the oceans acidify. Biodisasters will multiply as storms rip ever harder, and climate fires burn hotter and for longer. Organisms large and small will migrate to escape the heat, with unknown consequences. The paradox is that all these maladies are entirely preventable: we cannot predict the next gamma-ray burst or solar storm, but we certainly know enough to fix the current climate crisis.

The second novelty is the killer, however. For unlike death-dealing asteroids or gamma rays, there is a cabal of conniving corporations laboring to ensure the continued burning of fossil fuels. Compliant governments are co-conspirators in this crime against the planet along with think tanks like the American Petroleum Institute and a dozen-odd other bill-to-shill institutes. This makes the climate crisis different from most previous catastrophes or epidemics. It is as if the malaria mosquito had lobbyists in Congress, or Covid had an army of attorneys. Welcome to the Anthropocene, the Pyrocene, the Age of Agnotology!

So forget the past fifty years: the discovery of this slow boil from oil could well become the most important scientific discovery in all of human history. What else even comes close?

Professor and Chair, History of Science, The University of Oklahoma

Id say the best candidate is the set of ideas and techniques associated with sequencing genes and mapping genomes.

As with most revolutionary developments in science, the genetic sequencing and mapping revolution wasnt launched by a singular discovery; rather, a cluster of new ideas, tools, and techniques, all related to manipulating and mapping genetic material, emerged around the same time. These new ideas, tools, and techniques supported each other, enabling a cascade of continuing invention and discovery, laying the groundwork for feats such as the mapping of the human genome and the development of the CRISPR technique for genetic manipulation.

Probably the most important of these foundational developments were those associated with recombinant DNA (which allow one to experiment with specific fragments of DNA), with PCR (the polymerase chain reaction, used to duplicate sections of DNA precisely, and in quantity), and with gene sequencing (used to determine the sequences of base pairs in a section of DNA, and thus to identify genes and locate them relative to one another).

While each of these depended upon earlier ideas and techniques, they all took marked steps forward in the 1970s, laying the foundation for rapid growth in the ability to manipulate genetic material and to map genes within the larger genomes of individual organisms. The Human Genome Project, which officially ran from 1990-2003, invested enormous resources into this enterprise, spurring startling growth in the speed and accuracy of gene sequencing.

The ramifications of this cluster of developments, both intellectual and practical, have been enormous. One the practical side, the use of DNA evidence in criminal investigation (or in exonerating the wrongly convicted), is now routine, and the potential for precise, real-time genomic identification (and surveillance) is being realised at a startling pace. While gene therapies are still in their infancy, the potential they offer is tantalising, and genomic medicine is growing rapidly.

Pharmaceutical companies now request DNA samples from individual experimental subjects in clinical trials in order to correlate drug efficacy with aspects of their genomes. And, perhaps most important of all, the public health aspects of gene sequencing and mapping are stunning: the genome of the SARS-2 Coronavirus that causes Covid-19 was sequenced by the end of February 2020, within weeks of the realisation that it could pose a serious public health threat, and whole-genome analysis of virus samples from around the world, over time, have enabled public health experts to map its spread and the emergence of variants in ways that would have been unthinkable even a decade ago.

The unique aspects of the virus that make it so infectious were identified with startling speed, and work on an entirely new mode of vaccine development began, leading to the development, testing, and mass production of a new class of vaccines (mRNA vaccines) of remarkable efficacy, in unbelievably short time less than a year from identification of the virus to approval and wide use. It is hard to overstate how amazing this novel form of vaccine development has been, and how large its potential is for future vaccines.

On the intellectual/cultural side, the collection of techniques for manipulating and mapping genetic material is challenging longstanding ideas about what is natural and about what makes us human. Organic, living things now can be plausibly described as technologies, and thats an unsettling thing. Aspects of our individual biological identities that once were givens are increasingly becoming choices, with implications we are just beginning to see.

In addition, these same techniques are being deployed to reconstruct our understanding of evolutionary history, including our own evolution and dispersal across the globe, and perhaps nothing is more significant than changing how we understand ourselves and our history.

Professor, Science and Technology Studies, University College London, who researches the history of modern science and technology

My answer would be PCR Polymerase Chain Reaction. Invented by Kary Mullis at the Cetus Corporation in California in 1985, its as important to modern genetics and molecular biology as the triode and the transistor to modern electronics. Indeed it has the same role: its an amplifier. DNA can be multiplied. Its a DNA photocopier.

Without it, especially once automated, much modern genetics would be extremely time-consuming, laborious handcraft, insanely expensive, and many of its applications would not be feasible. It enables sequencing and genetic fingerprinting, and we have it to thank for COVID tests and vaccine development. Plus, you can turn it into a fantastic song by adapting the lyrics to Sleaford Mods TCR. Singalong now: P! C! R! Polymerase! Chain! Reaction!

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What Is the Most Important Scientific Development of the Last 50 Years? - Gizmodo Australia