Category Archives: Transhuman News

Jens Carlsson of the UCD School of Biology is co-founder of the Area 52 research group that aims to solve a variety of genetic questions.

After completing his PhD in 2001, followed by a stint at the Danish Institute for Freshwater Research in Silkeborg, assistant professor Jens Carlsson travelled to the US in 2002 to work as a postdoc at the Virginia Institute for Marine Science.

In 2007, he was appointed a visiting associate professor at Duke University, North Carolina, to research the population structure of striped sea bass.

In 2009, he travelled to Ireland to work at University College Cork as a senior research fellow, which included work on deep sea vessels. Then, in 2012, he made the move to University College Dublin and established his research group, Area 52.

Too many people have been watching the CSI TV series and have strange ideas of how a modern genetics laboratory works JENS CARLSSON

I think I have had an interest in fish since I was introduced to fishing as a kid. While completing my BSc project, I was fascinated by the questions you could ask and answer using scientific approaches.

The freedom that academic research has for coming up with projects and then sourcing funding, to actually examine these questions, was probably the reason why I stayed on in science.

The research group Area 52 quickly developed when I started working in UCD. It is now a rather diverse group and we take on research questions from a wide range of disciplines from viral diseases in fish to identification of human remains.

It is the use of genetic methods that allows us to work with these very diverse questions and, so far, all organisms have DNA or RNA so there are a huge variety of questions that we can address.

This also means that we collaborate with a large number of colleagues. While we have the genetic expertise, we also need to work with people who understand the biology and ecology of the organisms.

When Area 52 started, it was only myself and my wife and lab manager in the lab group. But now it has grown significantly and consists of undergraduates, summer interns, visiting students, MSc students, PhD candidates, postdocs, research fellows and research scientists.

I believe that genetics has the capacity to answer questions that no other research field can do.

For example, when you look at marine fish, there are no clear barriers preventing different populations from mixing. However, this does not mean that the fish all belong to the same biological unit or population.

While fish from multiple biological units can mix at feeding areas, they often return to specific spawning sites with each spawning site representing a single biological unit.

Multiple species have been shown using genetics separated into different populations to represent different biological units. This has profound implications for the management of fisheries species, as the level where management needs to take place is natural biological units and this might differ depending on the time of the year.

You might have multiple populations mixing at feeding grounds and it is very difficult to say which fish came from which population when being caught in commercial fisheries as they tend to look the same. However, by using genetic tools we are able to say which individual belongs to which population.

Furthermore, Area 52 has a strong focus on developing non-invasive sampling methods for studies of terrestrial mammals such as elephants, zebras and giraffes primarily in Kenya.

It is often very difficult and invasive to collect genetic material for these animals. We focus on using scat samples that are completely non-invasive. The animal does its business and we collect the scat and use that as source of genetic material.

Area 52 often works with method development and these methods can obviously be used in the commercial world. For example, the management of fisheries species and the integrity of supply chains.

However, the main focus of the lab is in deploying the methods we develop in conservation and environmental monitoring of water ecosystems.

It is always difficult to find time to do the research. You are teaching, mentoring, doing research and administration. At the same time, you need to secure funding for your research and that is difficult.

This is not only because of the lack of time, but also because of the strong competition among researchers for the very limited funding. This means that you can spend significant time on writing a grant application and then it is not funded. I wish the success rate of grants would be higher.

Too many people have been watching the CSI TV series and have strange ideas of how a modern genetics laboratory works.

The big question is climate change and how that will affect distribution and survival of species. This is a very important question requiring collaboration among a large number of researchers from many different fields of science.

Are you a researcher with an interesting project to share? Let us know by emailing editorial@siliconrepublic.com with the subject line Science Uncovered.

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Fishy genetics: A behind-the-scenes look at UCD's Area 52 - Siliconrepublic.com

ALISO VIEJO, Calif., Dec. 10, 2019 /PRNewswire/ --Researchers atAmbry Genetics(Ambry), a leading clinical genetic testing lab, will announce new data showing that conducting RNA and DNA tests for hereditary cancer risk at the same time identifies more patients with mutations that increase cancer risk than DNA testing alone. To be presented at the San Antonio Breast Cancer Symposium (SABCS) this week, the data come from a study of 746 patients with breast cancer that received +RNAinsight, paired RNA and DNA genetic testing for hereditary cancer risk.

Standard DNA testing for hereditary cancer risk excludes large portions of DNA, thereby missing some mutations. In addition, DNA testing can produce inconclusive results and fail to determine that an error in our DNA increases cancer risk. These limitations impact patients and their families because doctors may not have the information needed to recommend appropriate preventive, early detection, or therapeutic steps. Additionally, relatives may not be referred for genetic testing and obtain the care they would otherwise have gotten if they had learned they had mutations.

Adding RNA to DNA testing overcomes these limitations for a substantial number of patients as it provides considerably more evidence than DNA testing alone about whether our DNA has mutations.

The data showed that adding RNA genetic testing to DNA testing increased the diagnostic yield the number of people found to have a mutation that increases cancer risk across 16 hereditary breast and/or ovarian cancer genes. As a result of +RNAinsight, five breast cancer patients were identified to have mutations in clinically-actionable genes that would have otherwise been missed completely or the patient would have received inconclusive results if they had received DNA testing only. These findings included three women with mutations in BRCA1/2, one woman with a mutation in ATM, and one woman with a mutation in PMS2. Additionally, paired RNA and DNA genetic testing decreased the number of inconclusive results, giving patients more definitive answers about whether their breast cancers were hereditary. Additional results will be presented on an expanded breast cancer cohort at the meeting on Saturday, December 14th.

"These data further prove that paired RNA and DNA genetic testing for hereditary cancer should be the industry standard," said Holly LaDuca, MS, CGC, senior manager of Ambry's clinical affairs research. "Our research has consistently shown that +RNAinsight provides clinicians with more accurate results, better informing patient care."

Researchers from Ambry will also present at SABCS new data from a pre-and post-test clinician survey that assessed how genetic testing for hereditary cancer impacted medical management, such as screening recommendations. The survey found that positive genetic testing results frequently lead to changes in management recommendations in both high risk (e.g. BRCA1) and moderate risk (e.g. ATM) genes. Changes to mammogram, breast MRI, and/or preventive surgery options were reported in 77.3% of positive individuals. Moreover, medical management changes largely adhered to published guidelines, indicating that cliniciansare applying recommendations appropriately based on test results.

"With this survey data, clinicians are showing us that they truly do use genetic testing results to implement personalized recommendations, which can be life-saving for a patient," said Carrie Horton, MS, CGC, senior researcher in Ambry's clinical affairs team. "These data provide further evidence that genetic testing is essential to comprehensive cancer care. Continued study in this area will aid clinicians, laboratories, health plans, and ultimately patients."

Below are summaries of each of the four studies that Ambry will present at SABCS 2019.

Friday, December 13, 5:00- 7:00 PM CST

P5-07-06,Black M, et. al., Performance of Polygenic Risk Score Combined with Clinical Assessment for Breast Cancer Risk

Saturday, December 14, 7:00 9:00 AM CST

P6-08-35,Horton C, et. al., Impact of Multigene Panel Testing on Medical Management: Preliminary Results of a Pre- and Post- Test Clinician Survey

P6-08-08,LaDuca H, et. al., Concurrent DNA and RNA Genetic Testing Identifies More Patients with Hereditary Breast Cancer than DNA Testing Alone

P6-08-04,Yadav S, et. al., Germline Mutations in Cancer Predisposition Genes in Patients with Invasive Lobular Carcinoma of the Breast

ABOUT AMBRY GENETICS

Ambry Genetics, as part of Konica Minolta Precision Medicine, excels at translating scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. Our unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means we are first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions. We care about what happens to real people, their families, and the people they love, and remain dedicated to providing them and their clinicians with deeper knowledge and fresh insights, so together they can make informed, potentially life-altering healthcare decisions. For more information, please visitambrygen.com.

For more information on risk factors for hereditary cancer, please visit cancer.gov's fact sheet on hereditary cancer and genetic testing.

ABOUT +RNAINSIGHT

+RNAinsight, paired with Ambry Genetics' hereditary cancer DNA tests, uses next-generation sequencing to concurrently analyze a patient's DNA and RNA, another layer of genetic information. +RNAinsight identifies more patients who have mutations that increase their cancer risks than through standard DNA-only testing by overcoming limitations of DNA testing. +RNAinsight enables more accurate identification of patients with increased genetic risks for cancer, finds actionable results that may otherwise be missed, and decreases the frequency of inconclusive results. +RNAinsight is now available through doctors and genetic counselors around the country. For more information on +RNAinsight, please go toambrygen.com/RNAinsight.

Press Contact:Liz Squirepress@ambrygen.com (202) 617-4662

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SOURCE Ambry Genetics

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New Data from Ambry Genetics Showed Concurrent RNA and DNA Testing Identified More Patients with Hereditary Breast Cancer than DNA Testing Alone -...

Hardly a week goes by without a report announcing the end of work as we know it.

In 2013, Oxford University academics Carl Frey and Michael Osborne were the first to capture this anxiety in a paper titled: The Future of Employment: How susceptible are jobs to computerisation?.

They concluded 47% of US jobs were threatened by automation. Since then, Frey has taken multiple opportunities to repeat his predictions of major labour market disruptions due to automation.

In the face of threats to employment, some progressive thinkers advocate jettisoning our work ethic and building a world without work.

If machines can do our work, why not reduce the working week drastically? We should be mature enough to decide what truly matters to us, without tying our identity to a job, or measuring happiness in dollars and professional status. Right?

Not quite.

The reality is that work is tied to our constitution as a species. And this fact is too often overlooked in discussions about the future of work.

Recent studies have raised alarms that advances in automation and artificial intelligence (AI) will leave all sectors open to the threat of machines replacing human workers.

The power of AI will supposedly, according to these studies, even make high-skilled specialists redundant - threatening medical practitioners, bank associates, and legal professionals.

Read more: The benefits of job automation are not likely to be shared equally

Predictions about the rise of the robots either take a pessimistic stance, focusing on disruptions to economic organisations, or view undoing work as an opportunity to move to a fairer social model.

However, these views disregard the central role work has played in humanitys development.

Philosophers including Karl Marx, Henri Bergson, and John Dewey argued that working is a defining trait of humans.

Findings over the past two decades have confirmed that features of modern Homo sapiens are directly tied to their tendency to work.

Three basic ideas of the old philosophers are reaffirmed by contemporary research in archaeology, anthropology and genetics.

First, humans havent evolved to fit into their environments as seamlessly as other animals. Humans have had to compensate for a lack of fit.

They did this by learning about the ecosystems around them, the plants and animals they could eat, and the natural processes they could use, or should avoid. This knowledge was applied to create instruments, tools and weapons.

Read more: Resume robot wars: how employees could match employers' use of tech in job applications

Very early on, humans mobilised their knowledge and skills to shape their immediate surroundings and become the dominant animal.

Knowledge of nature, technical skills and intervention in the environment are all characteristics of humans capacity to work. These allowed us to adapt to highly diverse geographies and climates.

Each new generation has to learn the skills and knowledge that will enable it to sustain its particular mode of survival.

Australian philosopher Kim Sterelny has shown in detail how evolution selected genetic traits that sustain humans capacity to learn, specifically by enhancing social behaviour and tolerance towards the young.

And as humans worked on nature, they also worked in ways that influenced their minds, and their bodies.

It has been demonstrated that cooperation in humans reaches a level unknown in other species. This cooperative capacity has its roots in each individuals dependency on the knowledge, skills and efforts of others.

No human is able to sustain themself on their own, and collaboration exceeds what each person can produce alone. Even the most brilliant astrophysicist calls the plumber to fix a broken toilet.

Humans have to work to survive, and this entails working with, and for, others.

Acknowledging the anthropological depth of work means admitting current scenarios advocating the end of work are not the right answer. They take an unrealistic view of who we are.

We need to recognise work as a human need. As Marx said:

labour has become not only a means of life, but lifes prime want.

The question should not be whether theres room for human work in an automated future. The question should be: how will human work find its place next to machines and robots?

Even if automation becomes widespread, well still apply our minds, bodies and hands to productive tasks. Well still experiment and learn from others.

If machines could truly do all human work, then theyd make humans redundant, as 2001: A Space Odyssey anticipated back in 1968. While this isnt a pleasant scenario, its not a likely one either.

Automation might bring major social and economic disruptions in the short-term, but it wont get rid of the need for humans to work.

Read more: Dont be alarmed: AI wont leave half the world unemployed

Human needs are also infinitely complex. Nobody can foretell what new activities, techniques, and consequent modes of working will fulfil future needs.

Even if we reject the modern work ethic, well still find ways to learn through action and emulate experts.

Human intelligence is geared towards producing useful goods, so well continue to look for purposeful activities, too. And well seek collaboration with others for mutual benefit.

This is the influence of work on us. We are heir to thousands of years of evolution, and it would be pretentious to assume evolution could stop with us.

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Work is a fundamental part of being human. Robots won't stop us doing it - The Conversation AU

The overwhelming majority of people have brown eyes, which causes these with blue or inexperienced eyes, for instance, to draw consideration. The colour of the eyes, straight associated to genetics, is said to some sort of mutation all through the course of the story. However who had been the first to undergo it?

In keeping with a bunch of genetic researchers from the College of Copenhagen, the first mutation in blue-eyed people dates us again to a Danish household hundreds of years in the past. As defined, the shade variation from brown to inexperienced will be simply defined in the quantity of melanin the iris possesses. Melanin is nothing apart from the pigment present in most dwelling issues and that creates eye shade, in addition to different sections comparable to pores and skin or hair.

In the case of people with blue eyes, this quantity of variation in melanin is minimal. After reviewing the knowledge collected and uncovered in the journal Human Genetics, a single particular person was recognized a father and whose genes had been widespread to 155 people in Denmark. Not solely in that nation had been discovered references, but in addition associated to different people from Turkey and Jordan.

After the report it was concluded that all people with blue eyes could be linked to the same ancestor. On the opposite that these with brown eyes and the place the variation of melanin is nearly fixed.

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Is it true that all people with blue eyes come from the same ancestor? - Sportsfinding

BOTHELL, Wash.--(BUSINESS WIRE)--Seattle Genetics, Inc. (Nasdaq:SGEN) today announced positive pivotal data from the HER2CLIMB trial evaluating tucatinib in patients with HER2-positive metastatic breast cancer (MBC) were presented at the 2019 San Antonio Breast Cancer Symposium (SABCS) and simultaneously published in the New England Journal of Medicine (NEJM). The HER2CLIMB trial compared tucatinib in combination with trastuzumab and capecitabine to trastuzumab and capecitabine alone in patients with unresectable locally advanced or metastatic HER2-positive breast cancer. Patients had previously received trastuzumab, pertuzumab and ado-trastuzumab emtansine (T-DM1). Patients had received a median of four prior lines of therapy overall and three lines in the metastatic setting. Forty-seven percent of the patients enrolled in the trial had brain metastases at the time of enrollment. HER2CLIMB is the first randomized pivotal trial completed to enroll patients with metastatic HER2-positive breast cancer who have untreated or previously treated and progressing brain metastases. Tucatinib is an oral, small molecule tyrosine kinase inhibitor (TKI) that is highly selective for HER2.

Following progression on trastuzumab, pertuzumab and T-DM1 in the metastatic HER2-positive breast cancer setting, there is no single standard of care regimen and clinical trial participation is often strongly encouraged. There is a significant unmet medical need for these patients, particularly those who develop brain metastases, said Rashmi Murthy, MD, MBE, Assistant Professor, Department of Breast Medical Oncology, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center. The addition of tucatinib to the commonly used combination of trastuzumab and capecitabine improved overall survival, reducing the risk of death by 34 percent compared to trastuzumab and capecitabine alone. The results from HER2CLIMB demonstrate tucatinib has the potential to become a new treatment option for patients who have been previously treated with multiple anti-HER2 agents, including patients with and without brain metastases.

Continued innovation to bring new therapies for the treatment of metastatic HER2-positive breast cancer is urgently needed, and we are encouraged by the impressive clinical activity demonstrated with the addition of tucatinib to trastuzumab and capecitabine in the HER2CLIMB trial, said Roger Dansey, M.D., Chief Medical Officer at Seattle Genetics. Tucatinib demonstrated a statistically significant and clinically meaningful benefit in overall survival, progression-free survival and objective response rate compared to the control arm. We plan to submit a New Drug Application (NDA) to the U.S. Food and Drug Administration and a Marketing Authorization Application (MAA) to the European Medicines Agency by the first quarter of 2020, with the goal of bringing a much-needed new medicine to patients.

Data presented at SABCS and published in NEJM include the primary endpoint of progression-free survival (PFS) as assessed by blinded independent central review (BICR) in the first 480 patients enrolled in the trial. HER2CLIMB enrolled a total of 612 patients to support the analyses of key secondary endpoints, including overall survival (OS) as well as progression-free survival (PFS) in patients with brain metastases at baseline.

Pivotal HER2CLIMB Trial Results

Efficacy:

Safety:

About HER2-Positive Breast Cancer

Patients with HER2-positive breast cancer have tumors with high levels of a protein called human epidermal growth factor receptor 2 (HER2), which promotes the aggressive spread of cancer cells. An estimated 271,270 new cases of invasive breast cancer will be diagnosed in the U.S. in 2019.1 Between 15 and 20 percent of breast cancer cases worldwide are HER2-positive.2 Historically, HER2-positive breast cancer tends to be more aggressive and more likely to recur than HER2-negative breast cancer.2, 3, 4 In patients with metastatic breast cancer, the most common site of first metastasis is in bone, followed by lung, brain, and liver.5, 6 Up to 50 percent of metastatic HER2-positive breast cancer patients develop brain metastases over time.2, 7 Despite recent treatment advances, there is still a significant need for new therapies that can impact metastatic disease, especially brain metastases. There are currently no approved therapies demonstrating progression-free survival or overall survival benefit for the treatment of patients with HER2-positive metastatic breast cancer after progression on T-DM1.8, 9, 10

About HER2CLIMB

HER2CLIMB is a multinational randomized (2:1), double-blind, placebo-controlled, active comparator, pivotal clinical trial comparing tucatinib in combination with trastuzumab and capecitabine compared with trastuzumab and capecitabine alone in patients with locally advanced unresectable or metastatic HER2-positive breast cancer who were previously treated with trastuzumab, pertuzumab and T-DM1. The primary endpoint of the trial was PFS per Response Evaluation Criteria in Solid Tumors (RECIST) v1.1 as determined by blinded independent central review (BICR) in the first 480 patients enrolled in the trial. HER2CLIMB enrolled a total of 612 patients to support the analyses of key secondary endpoints, including overall survival, PFS per BICR in patients with brain metastases at baseline and confirmed objective response rate. Safety data were evaluated throughout the study.

About Tucatinib

Tucatinib is an investigational, orally bioavailable, potent tyrosine kinase inhibitor that is highly selective for HER2 without significant inhibition of EGFR. Inhibition of EGFR has been associated with significant toxicities, including skin rash and diarrhea. Tucatinib has shown activity as a single agent and in combination with both chemotherapy and other HER2 targeted agents such as trastuzumab.1,2 Studies of tucatinib in these combinations have shown activity both systemically and in brain metastases. HER2 is a growth factor receptor that is overexpressed in multiple cancers, including breast, colorectal and gastric cancers. HER2 mediates cell growth, differentiation and survival. Tucatinib has been granted orphan drug designation by the FDA for the treatment of breast cancer patients with brain metastases.

In addition to HER2CLIMB, tucatinib is being evaluated in a randomized, double-blind, placebo-controlled, multi-center phase 3 trial of tucatinib in combination with T-DM1 compared to T-DM1 alone, in patients with unresectable locally advanced or metastatic HER2-positive breast cancer, including those with brain metastases, who have had prior treatment with a taxane and trastuzumab. The primary endpoint is progression-free survival per RECIST criteria. Secondary endpoints include overall survival, objective response rate and duration of response. The trial is being conducted in North America and is expected to enroll approximately 460 patients. More information about the phase 3 trial, including enrolling centers, is available at http://www.clinicaltrials.gov.

Tucatinib is also being evaluated in a multi-center, open-label, single-arm phase 2 clinical trial known as MOUNTAINEER, which is evaluating tucatinib in combination with trastuzumab in patients with HER2-positive, RAS wildtype metastatic or unresectable colorectal cancer. The primary endpoint of the trial is objective response rate by RECIST criteria. Progression-free survival, duration of response, overall survival and safety and tolerability of the combination regimen are secondary objectives. Results for 26 patients were evaluated in an analysis and presented at the European Society for Medical Oncology (ESMO) 2019 Congress. Enrollment is ongoing. More information about the MOUNTAINEER trial, including enrolling centers, is available at http://www.clinicaltrials.gov.

About Seattle Genetics

Seattle Genetics, Inc. is an emerging multi-product, global biotechnology company that develops and commercializes transformative therapies targeting cancer to make a meaningful difference in peoples lives. ADCETRIS (brentuximab vedotin) utilizes the companys industry-leading antibody-drug conjugate (ADC) technology and is currently approved for the treatment of multiple CD30-expressing lymphomas. Beyond ADCETRIS, the company has a late-stage pipeline including enfortumab vedotin for metastatic urothelial cancer, currently being reviewed for approval by the FDA, and tisotumab vedotin in clinical trials for metastatic cervical cancer, which utilize our proprietary ADC technology. In addition, tucatinib, a small molecule tyrosine kinase inhibitor, is in late-stage development for HER2-positive metastatic breast cancer and in clinical development for metastatic colorectal cancer. We are also leveraging our expertise in empowered antibodies to build a portfolio of proprietary immuno-oncology agents in clinical trials targeting hematologic malignancies and solid tumors. The company is headquartered in Bothell, Washington, and has a European office in Switzerland. For more information on our robust pipeline, visit http://www.seattlegenetics.com and follow @SeattleGenetics on Twitter.

Forward Looking Statements

Certain of the statements made in this press release are forward looking, such as those, among others, relating to the therapeutic potential of tucatinib, including its possible efficacy, safety and therapeutic uses; anticipated development activities including ongoing and future clinical trials; and intended regulatory actions, including the plan to submit an NDA to the FDA and a MAA to the EMA by the first quarter of 2020. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the difficulty and uncertainty of pharmaceutical product development, the risk of adverse events or safety signals, the possibility of disappointing results in ongoing or future clinical trials despite earlier promising clinical results, the possibility of delays in the submission of an NDA to the FDA and a MAA to the EMA, the possibility that data from the HER2CLIMB trial may not be sufficient to support approval of tucatinib and the possibility of adverse regulatory action. More information about the risks and uncertainties faced by Seattle Genetics is contained under the caption Risk Factors included in the companys Quarterly Report on Form 10-Q for the quarter ended September 30, 2019 filed with the Securities and Exchange Commission. Seattle Genetics disclaims any intention or obligation to update or revise any forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.

References:

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Seattle Genetics Announces Positive Tucatinib HER2CLIMB Trial Results in Locally Advanced or Metastatic HER2-Positive Breast Cancer Presented at 2019...

An important question in medication asks how individual changes in DNA can predict variation in disease and health. New research from the Clemson Center for Human Genetics identified several metabolites that may function intermediates to translate variation within the genome to variation in advanced traits. Published lately in Genome Research, the findings may, in the future, help doctors better monitor metabolite variation as an indicator of disease.

The central dogma of molecular biology shows how DNA is transcribed into RNA, which is translated into proteins. Many of those proteins operate as enzymes that catalyze chemical reactions between small molecules that perform the applications laid out in our DNA, often known as metabolites. These metabolites, collectively known as the metabolome, carry out important functions, from producing or storing energy to serving as building blocks for our cells.

On this groundbreaking examine led by Mackays former postdoctoral researchers Shanshan Zhou and Fabio Morgante, researchers sought to measure hundreds of metabolites discovered throughout the experimental model system of the common fruit fly, Drosophila melanogaster, to gauge how these metabolites fluctuated alongside variation in genetic information.

As soon as the metabolites had been recognized, the remainder of the examine was carried out computationally, correlating variation in metabolites with DNA variants and variation in a variety of traits measured in 40 totally different fruit fly lines.

However, this comprehensive research fills in gaps of missing information that create extra avenues for research in the future. Because the technology to measure the metabolome improves, databases containing metabolomic information will expand.

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New Research Identified Hundreds of Metabolites and Small Molecules That Are Potential Indicators for The Disease - The News Kahn

A domesticated fox in Russia.Photo: Getty Images

Decades ago, a Soviet geneticist purposely bred foxes to make them extra tame, an experiment that produced a host of unanticipated physical changes in the animals. Its one of the most famous experiments in genetics, but it might not have gone down in the way we were told. A new opinion paper argues these foxes werent wild to begin with and that the domestication syndrome associated with the changes doesnt exista claim thats stirring up controversy among some biologists.

As the story goes, geneticist Dimitry Belyaev, who worked at the Institute of Cytology and Genetics in Novosibirsk, USSR, took 30 male and 100 female wild foxes (Vulpes vulpes), and, over the course of the next few decades, bred only the most human-friendly individuals. The experiment began in 1959, and by the late 1970s10 generations laterBelyaevs foxes were exhibiting the desired behavior, showing affection toward humans in a manner eerily reminiscent of dogs.

At the same time, however, the foxes acquired a host of unanticipated and unintended physical characteristics that distinguished them from the source population, such as floppy ears, turned-up tails, piebald coats, and wider faces, among other traits.

None of these physical characteristics were selected for, but Belyaev believed these traits were tied to the selected behavioral change (i.e. tameness), which somehow influenced the rise of unexpected traits. The Russian Farm-Fox Experiment, as its now called, has since been used by biologists to showcase the sweeping influence of domestication on a species. It also invigorated a term used to describe the phenomenon: domestication syndrome, as these sorts of physical changes have been documented in other domesticated animals, such as dogs, horses, and cows.

But as a new opinion paper published in Trends in Ecology & Evolution points out, a critical part of this story isnt actually true: the original foxes used in the experiment werent actually taken from the wild. Moreover, and perhaps more controversially, the authors, who include Elinor Karlsson, a biologist from the University of Massachusetts Medical School, and Gregor Larson, a paleogeneticist from the University of Oxford, contend that domestication syndrome is a half-baked concept thats probably not even a real condition.

That Belyaevs foxes werent originally wild seems to be the case. The authors provided evidencemuch of it already publicly availableshowing that Belyaev acquired the foxes from Soviet fur farms, which in turn had acquired their foxes from Canadian breeders, specifically fox farms in Prince Edward Island. Canadian entrepreneurs had been domesticating foxes since the late 19th century, selecting for both appearance and behavior, according to the paper. So by the time Belyaev got his hands on them, these foxes were already going through domestication.

And in fact, Belyaev himself admitted as much, describing the founding population as fur-farm foxes, but because he referred to them as wild controls, he unintentionally created a misconception.

The story wed heard was that the Russian scientists had started with a wild population of foxes, selectively bred the least fearful foxes, and as a result of that selection, also gotten foxes with white spots, curly tails, and other changes, Karlsson told Gizmodo. But up in Canada, they had foxes that were not fearful and already had white spotting (we dont know about curly tails)decades before the project started. And then we found the fox project in Russia didnt start with wild foxes, but with fur farm foxes originally from Canada. It totally changes the way I think about cause and effect in the project, she said.

Karlsson said her team concluded that Belyaev was continuing a domestication process that had already started many decades earlier in Canada.

Were not saying they are indistinguishable, said Karlsson of Belyaevs later generations of foxes and the founding group from the Soviet fur farms. But she said her team doesnt think that any of the changes since the Russian project started would suddenly qualify the foxes as now being domesticated.

Its entirely possible, she said, that Belyaev created even more friendly foxes, but even before this experiment began, we know the foxes were already okay being around humansand some of them were pretty happy about it, at least according to the photos and storiesand were breeding in captivity, which are the essential elements that are used to qualify them as being domesticated.

But the larger issue described in the paper is that there isnt really any good definition for domestication, Karlsson said, which made this hard to write about!

Karlsson and her colleagues argue against the existence of a so-called domestication syndrome, which they define as a suite of behavioral and morphological characteristics consistently observed in domesticated populations. The term was coined by botanists in the early 20th century, but Charles Darwin hinted at its existence in his 1868 book, The Variation of Animals and Plants Under Domestication. It was eventually applied to mammals in the 1980s, and its usage has risen dramatically since the 1990s, according to the new research.

Upturning the concept is a big deal, because domestication syndrome has inspired many related ideas, including the neural crest hypothesis and the pedomorphosis hypothesis. The neural crest hypothesis suggests neural crest cellsa specific class of stem cellsare a common factor in influencing the biological cascade that leads to multiple unanticipated physical changes in a species. The pedomorphosis hypothesis, also known as neoteny, suggests some of the changes introduced by domestication have a distinct juvenile quality and that selecting for tameness and other attributes effectively maintains a species, or at least some of its attributes, at an underdeveloped level. (In fact, some scientists argue that humans have tended to select mates with more juvenile features, leading to the hypothesis that humans exhibit certain features consistent with self-domestication.)

The authors looked to various domesticated mammalian species in order to further scrutinize the concept of domestication syndrome. In addition to domesticated foxes, the authors examined the characteristics of other species of domesticated animals, including dogs, cats, goats, pigs, rabbits, rats, and mice. The researchers charted their anomalous traits, such as shorter jaws, curled tails, drooping ears, changes in coat color and patterning, earlier sexual maturation, decreased brain size, and other attributes typically associated with domestication syndrome. Their comparative analysis revealed many gaps and inconsistencies among the species studied.

Their main complaint is that domestication syndrome has no standard definition that is applicable to all domesticated species. These hypotheses assume that the domestication syndrome exists, but with little supporting data, wrote the authors. The defining characteristics vary widely and have not been observed in most domesticated species. Many studies fail to distinguish traits that accompanied domestication from those only in modern breeds, and some traits are reported anecdotally without any accompanying frequencies or measurements.

The researchers devised a list of three essential criteria consistent with their interpretation of domestication syndrome, namely:

1. Onset: A trait must appear...in conjunction with the onset of selection for tameness.

2. Frequency: A trait must be significantly more common in the selected population.

3. Association: A trait must be associated with tameness in individuals, not just at the population level

When the researchers applied these criteria to domestication syndrome, they were unable to identify a single species for which all three criteria were met. The authors concluded that the Russian Farm-Fox Experiment is overstated as a model for understanding the effects of domestication, while adding that traditional conceptions of domestication need to be re-evaluated and re-defined.

Rather than focus on the domestication syndrome, we should instead consider how domesticated species have changed, and are still changing, in response to human-modified environments, wrote the authors. This effort will provide a robust framework to investigate the cultural and biological processes that underlie one of the most important evolutionary transitions.

In terms of whats happening to the animals, a lot of it might just be something we call genetic drift, which basically comes down to random chance, Karlsson told Gizmodo.

Perhaps unsurprisingly, the new opinion paper is not going over well with some biologists.

David MacHugh, a professor of functional genomics at University College Dublin, wasnt directly involved with the research but said he discussed Belyaevs experiment at length with Larson, a co-author of the paper, prior to publication. As MacHugh told Gizmodo in an email, he was convinced by the teams arguments regarding the Canadian provenance of the source population. As for the authors takedown of domestication syndrome, he was less persuaded.

It is important to note that as data accumulates from genome-scale functional and comparative analyses of domestic animals and their wild [ancestors], we should eventually have sufficient data to fully test the domestication syndrome hypothesis, said MacHugh.

He also said it should be possible to figure out if the biological basis of domestication syndrome is tied to genetic disruptions, or perturbations, that affect the development of various tissues derived from neural crest cells.

In other words, MacHugh believes the jury is still out on the neural crest hypothesis, but future genetics research will be able to finally settle the score. Whats more, he believes ongoing research into ancient DNA will allow paleogeneticists to better chronicle the history of domestication, pointing to a new study he co-authored on this exact subject.

Adam Wilkins, an evolutionary biologist from Humboldt University in Berlin, was less charitable, saying the opinion piece was deeply problematical.

As Wilkins told Gizmodo in an email, hes probably biased, since he was part of the team that put the term domestication syndrome on the map, with respect to mammals (the term had previously been used for plants), in reference to a 2014 paper he co-authored with biologists Richard Wrangham and Tecumseh Fitch.

The root of our disagreement lies, I think, in that we mean something different by syndrome than they do, Wilkins told Gizmodo. They seem to believe that something can only be called a syndrome if the affected individuals all display the exact same set of traits. Whereas we argue that if domestication is accompanied by a range of unselected traits, which might differ somewhat but often overlap, it counts as a syndrome.

Wilkins said he and his colleagues never claimed the existence of an identical set of traits across all domesticated mammals, which he says is implied in the new opinion piece.

Furthermore, under our neural crest cell hypothesiswhich the authors refer to briefly, twice, but do not explain or discusswhat you see is exactly what the hypothesis predicts, said Wilkins.

Specifically, that reductions in neural crest cellsthe result of different mutations in the large set of neural crest cell genesproduce a range of affected traits, he said, pointing to a recent Development and Evolution paper he wrote that provides more color to this claim.

Wilkins also took great exception to the authors assertion that the two fox populationsthe farm-fox population that Belyaev bred from and the foxes he producedwere essentially the same.

No! wrote Wilkins. This shows a lack of understanding of what an evolutionary process is. Belyaev clearly increased the frequencies of those mutant alleles [alternative forms of a gene] and brought them together and with that, he created a new population with distinctive properties. Now, that is evolution, as Belyaev recognized but [the authors] do not, he said.

This point is consistent with a 1999 review of the Belyaev experiment written by biologist Lyudmila Trut from the Institute of Cytology and Genetics of the Siberian Department of the Russian Academy of Sciences. In the paper, Trut describes the remarkable transformations seen in the foxes over a 40-year period, in an experiment that, at the time of her paper, involved some 45,000 foxes and somewhere between 30 and 35 generations.

The founding foxes were already tamer than their wild relatives, wrote Trut. Foxes had been farmed since the beginning of this century, so the earliest steps of domestication, capture, caging and isolation from other wild foxes had already left their marks on our foxes genes and behavior.

Despite this, the breeding program produced an array of concrete results, she wrote. The foxes are unusual animals, docile, eager to please and unmistakably domesticated. When tested in groups in an enclosure, pups compete for attention, snarling fiercely at one another as they seek the favor of their human handler.

Whats more, the unexpected physical changes werent seen until around the eighth to 10th selected generations, as Trut wrote:

The first ones we noted were changes in the foxes coat color, chiefly a loss of pigment in certain areas of the body, leading in some cases to a star-shaped pattern on the face similar to that seen in some breeds of dog. Next came traits such as floppy ears and rolled tails similar to those in some breeds of dog. After 15 to 20 generations we noted the appearance of foxes with shorter tails and legs and with underbites or overbites.

Wilkins raised several other issues with the new paper, including the authors failure to define domestication after claiming that Belyaevs experiment wasnt a true example of domestication. He also wasnt happy that they looked at just seven domesticated species instead of the 26 documented in the scientific literature.

If they had, they would have seen a lot more domestication-associated traits... including many that almost certainly were not deliberately selected by breeders, Wilkins told Gizmodo. They want to attribute all these changes to selection, however; at least, that is what they imply at the end [of the article].

Wilkins believes the array of anomalous traits seen in domesticated mammalswhether these traits are common or not across speciescannot be explained away so easily and that domestication syndrome best describes this biological phenomenon.

Deficiencies in our understanding of Belyaevs experiment notwithstanding, the authors of the opinion piece raise a very good pointdomestication syndrome as its understood today is not a fully formed concept. But that doesnt mean it doesnt exist.

Pleiotropy, in which a single gene influences multiple traits, is very much real, so it makes sense that you could get some unexpected surpriseslike floppy ears when you were only selecting for friendlinessby messing with a multifunctional gene.

Its not immediately obvious that many of the unexpected physical characteristics seen in domesticated animals are truly the result of selection (whether those traits were consciously bred into them or not) or genetic drift. Moving forward, scientists will need to better elucidate the underlying cause of each identified trait.

And if these accidental byproducts or side-effects can be indisputably identified as being the unanticipated consequence of domestication, then we have something that can only be called one thing: a syndrome.

See original here:
Famous Foxes Bred for Tameness Werent Actually Wild in the First Place, Claims Controversial New Paper - Gizmodo