Monthly Archives: June 2020

Genetics is that the study of genes, their functions and their effects. Among the varied sorts of biology like genetic science, developmental genetic science, population genetics and quantitative genetic science, human genetics is that the study that deals with the inheritance happens in folks. It encompasses a range of overlapping fields like classical biology, genetics, genetic science, genetics and plenty of additional.

The Human Genetics Market is expected to exceed at a CAGR of 9.5% in the given forecast period.

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The Human Genetics Market is segmented on the lines of its methods, product, applications, end-users and regional. Based on methods segmentation it covers cytogenetic, molecular, presymptomatic and prenatal. Based on product it covers Consumables, devices and accessories. Based on end-user analysis it covers hospitals, clinics, research centers and forensic departments. Based on application it covers research, diagnostic and forensic science and others. Based on Others it covers Hysteroscopy Instruments Market on geographic segmentation covers various regions such as North America, Europe, Asia Pacific, Latin America, Middle East and Africa. Each geographic market is further segmented to provide market revenue for select countries such as the U.S., Canada, U.K. Germany, China, Japan, India, Brazil, and GCC countries.

This report provides:

1) An overview of the global market for Human Genetics Market and related technologies.2) Analyses of global market trends, with data from 2015, estimates for 2016 and 2017, and projections of compound annual growth rates (CAGRs) through 2024.3) Identifications of new market opportunities and targeted promotional plans for Human Genetics Market.4) Discussion of research and development, and the demand for new products and new applications.5) Comprehensive company profiles of major players in the industry.

Report Scope:

The scope of the report includes a detailed study of Human Genetics Market with the reasons given for variations in the growth of the industry in certain regions.

The report covers detailed competitive outlook including the market share and company profiles of the key participants operating in the global market. Key players profiled in the report include Agilent Technologies, Bode Technology, GE Healthcare, Illumina, LGC Forensics, Orchid Cell mark, Inc., Promega Corporation, QIAGEN N.V., Thermo Fisher Scientific, Inc. Company profile includes assign such as company summary, financial summary, business strategy and planning, SWOT analysis and current developments.

The Human Genetics Market has been segmented as below:

The Human Genetics Market is Segmented on the lines of Application Type, Methods, Product Type, End-user and Regional Analysis. By Application Type this market is segmented on the basis of Research, Diagnostic, Forensic science and Others. By Methods this market is segmented on the basis of Cytogenetic, Molecular, Presymptomatic and Prenatal.

By Product Type this market is segmented on the basis of Consumables, Devices and Accessories. By End-user this market is segmented on the basis of Hospitals sector, Clinics sector, Research centers sector and Forensic departments sector. By Regional Analysis this market is segmented on the basis of North America, Europe, Asia-Pacific and Rest of the World.

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The major driving factors of Human Genetics Market are as follows:

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A friend of mine with Central American, Southern European and West African ancestry islactose intolerant. Drinking milk products upsets her stomach, and so she avoids them. About a decade ago, because of her low dairy intake, she feared that she might not be getting enough calcium, so she asked her doctor for abone density test. He responded that she didnt need one because blacks do not get osteoporosis.

My friend is not alone. The view that black people dont need a bone density test is a longstanding and common myth. A2006 studyin North Carolina found that out of 531 African American and Euro-American women screened for bone mineral density, only 15 percent were African American women despite the fact that African American women made up almost half of that clinical population. A health fair in Albany, New York, in 2000,turned into a ruckuswhen black women were refused free osteoporosis screening. The situationhasnt changed muchin more recent years.

Meanwhile,FRAX, a widely used calculatorthat estimates ones risk of osteoporotic fractures, is based on bone density combined with age, sex and, yes, race. Race, even though it is never defined or demarcated, is baked into the fracture risk algorithms.

Lets break down the problem.

First, presumably based on appearances, doctors placed my friend and others into a socially defined race box called black, which is a tenuous way to classify anyone.

Race is a highly flexible way in which societies lump people into groups based on appearance that is assumed to be indicative of deeper biological or cultural connections. As a cultural category, the definitions and descriptions of races vary. Color lines based on skin tone can shift, which makes sense, but the categories are problematic for making any sort of scientific pronouncements.

Second, these medical professionals assumed that there was a firm genetic basis behind this racial classification, which there isnt.

Third, they assumed that this purported racially defined genetic difference would protect these women from osteoporosis and fractures.

Some studies suggestthat African American women meaning women whose ancestry ties back to Africa may indeed reach greater bone density than other women, which could be protective against osteoporosis. But that does not mean being black that is, possessing an outward appearance that is socially defined as black prevents someone from getting osteoporosis or bone fractures. Indeed, this same research also reports that African American women are more likely to die after a hip fracture. The link between osteoporosis risk and certain racial populations may be due to lived differencessuch as nutritionandactivity levels, both of which affect bone density.

But more important:Geographicancestry is not the same thing as race. African ancestry, for instance, does not tidily map onto being black (or vice versa). In fact, a2016 studyfound wide variation in osteoporosis risk among women living in different regions within Africa. Their genetic risks have nothing to do with their socially defined race.

When medical professionals or researchers look for ageneticcorrelateto race, they are falling into a trap: They assume thatgeographic ancestry, which does indeed matter to genetics, can be conflated with race, which does not. Sure, different human populations living in distinct places may statistically have different genetic traits such as sickle cell trait (discussed below) but such variation is aboutlocal populations(people in a specific region), not race.

Like a fish in water, weve all been engulfed by the smog of thinking that race is biologically real. Thus, it is easy to incorrectly conclude that racial differences in health, wealth and all manner of other outcomes are the inescapable result of genetic differences.

The reality is that socially defined racial groups in the U.S. and most everywhere else do differ in outcomes. But thats not due to genes. Rather, it is due to systemic differences in lived experience and institutional racism.

Communities of color in the United States, for example, often have reduced access to medical care, well-balanced diets andhealthy environments. They are often treated more harshly in their interactions withlaw enforcement and the legal system. Studies show that they experience greater social stress, includingendemic racism, that adversely affects all aspects of health. For example, babies born to African American women are more thantwice as likely to diein their first year than babies born to non-Hispanic Euro-American women.

Systemic racism leads to different health outcomes for various populations. The infant mortality rate, for example, for African American infants is double that for European Americans. (Credit: Kelly Lacy/Pexels)

As a professor of biological anthropology, I teach and advise college undergraduates. While my students are aware of inequalities in the life experiences of different socially delineated racial groups, most of them also think that biological races are real things. Indeed, more than half of Americans still believe that their racial identity is determined byinformation contained in their DNA.

For the longest time, Europeans thought that the sun revolved around the Earth. Their culturally attuned eyes saw this as obvious and unquestionably true. Just as astronomers now know thats not true,nearly all population geneticistsknow that dividing people into races neither explains nor describes human genetic variation.

Yet this idea of race-as-genetics will not die. For decades, it has been exposed to the sunlight of facts, but, like a vampire, it continues to suck blood not only surviving but causing harm in how it can twist science to support racist ideologies. With apologies for the grisly metaphor, it is time to put a wooden stake through the heart of race-as-genetics. Doing so will make for better science and a fairer society.

In 1619, the first people from Africa arrived in Virginia and became integrated into society. Only after African and European bond laborers unified in various rebellions did colony leaders recognize the need to separate laborers.Race dividedindentured Irish and other Europeans from enslaved Africans, and reduced opposition by those of European descent to the intolerable conditions of enslavement. What made race different from other prejudices, including ethnocentrism (the idea that a given culture is superior), is that it claimed that differences were natural, unchanging and God-given. Eventually, race also received the stamp of science.

Over the next decades, Euro-American natural scientists debated the details of race, asking questions such as how often the races were created (once, as stated in the Bible, or many separate times), the number of races and their defining, essential characteristics. But they did not question whether races were natural things. They reified race, making the idea of race real by unquestioning, constant use.

In the 1700s, Carl Linnaeus, the father of modern taxonomy and someone not without ego, liked to imagine himself asorganizing what God created. Linnaeus famously classified ourown species into racesbased on reports from explorers and conquerors.

The race categories he created includedAmericanus,Africanus, and evenMonstrosus(for wild and feral individuals and those with birth defects), and their essential defining traits included a biocultural mlange of color, personality and modes of governance. Linnaeus describedEuropeausas white, sanguine and governed by law, andAsiaticusas yellow, melancholic and ruled by opinion. These descriptions highlight just how much ideas of race are formulated by social ideas of the time.

Swedish taxonomist Carl Linnaeus divided humanity up into racial categories according to his notion of shared essences among populations, a concept researchers now recognize has no scientific basis. (Credit: Wikimedia Commons/Public Domain)

In line with early Christian notions, these racial types were arranged in a hierarchy:a great chain of being, from lower forms to higher forms that are closer to God. Europeans occupied the highest rungs, and other races were below, just above apes and monkeys.

So, the first big problems with the idea of race are that members of a racial group do not share essences, Linnaeus idea of some underlying spirit that unified groups, nor are races hierarchically arranged. A related fundamental flaw is that races were seen to be static and unchanging. There is no allowance for a process of change or what we now call evolution.

There have been lots of efforts since Charles Darwins time to fashion the typological and static concept of race into an evolutionary concept. For example, Carleton Coon, a former president of the American Association of Physical Anthropologists, argued inThe Origin of Races(1962) that five racesevolved separatelyand became modern humans at different times.

One nontrivial problem with Coons theory, and all attempts to make race into an evolutionary unit, is that there is no evidence. Rather, all the archaeological and genetic data point to abundant flows of individuals, ideas and genes across continents, withmodern humansevolving at the same time, together.

Afew pundits such asCharles Murrayof the American Enterprise Institute and science writers such asNicholas Wade, formerly ofThe New York Times, still argue that even though humans dont come in fixed, color-coded races, dividing us into races still does a decent job ofdescribinghuman genetic variation. Their position is shockingly wrong. Weve known for almost 50 years that race does not describe human genetic variation.

In 1972, Harvard evolutionary biologist Richard Lewontinhad the idea to testhow much human genetic variation could be attributed to racial groupings. He famously assembled genetic data from around the globe and calculated how much variation was statistically apportioned within versus among races. Lewontin found that only about 6 percent of genetic variation in humans could be statistically attributed to race categorizations. Lewontin showed that the social category of race explains very little of the genetic diversity among us.

Furthermore, recent studies reveal that the variation between any two individuals isverysmall, on the order of onesingle nucleotide polymorphism(SNP), or single letter change in our DNA, per 1,000. That means that racial categorization could, at most, relate to 6 percent of the variation found in 1 in 1,000 SNPs. Put simply, race fails to explain much.

In addition, genetic variation can be greaterwithingroups that societies lump together as one race than it is between races. To understand how that can be true, first imagine six individuals: two each from the continents of Africa, Asia and Europe. Again, all of these individuals will be remarkably the same: On average, only about 1 out of 1,000 of their DNA letters will be different. A study by Ning Yu and colleaguesplaces the overall difference more precisely at 0.88 per 1,000.

The researchers further found that people in Africa had less in common with one another than they did with people in Asia or Europe. Lets repeat that: On average, two individuals in Africa aremoregenetically dissimilar from each other than either one of them is from an individual in Europe or Asia.

Homo sapiensevolved in Africa; the groups that migrated out likely did not include all of the genetic variation that built up in Africa. Thats an example of what evolutionary biologists call thefounder effect, where migrant populations who settle in a new region have less variation than the population where they came from.

Genetic variation across Europe and Asia, and the Americas and Australia, is essentially a subset of the genetic variation in Africa. If genetic variation were a set of Russian nesting dolls, all of the other continental dolls pretty much fit into the African doll.

What all these data show is that the variation that scientists from Linnaeus to Coon to the contemporary osteoporosis researcher think is race is actually much better explained by a populationslocation. Genetic variation is highly correlated togeographic distance. Ultimately, the farther apart groups of people are from one another geographically, and, secondly, the longer they have been apart, can together explain groups genetic distinctions from one another. Compared to race, those factors not only better describe human variation, they invoke evolutionary processes to explain variation.

Those osteoporosis doctors might argue that even though socially defined race poorly describes human variation, it still could be a useful classification tool in medicine and other endeavors. When the rubber of actual practice hits the road, is race a useful way to make approximations about human variation?

When Ive lectured at medical schools, my most commonly asked question concerns sickle cell trait. Writer Sherman Alexie, a member of the Spokane-Coeur dAlene tribes, put the question this wayin a 1998 interview: If race is not real, explain sickle cell anemia to me.

OK! Sickle cell is a genetic trait: It is the result of an SNP that changes the amino acid sequence of hemoglobin, the protein that carries oxygen in red blood cells. When someone carries two copies of the sickle cell variant, they will have the disease. In the U.S., sickle cell disease is most prevalent in people who identify as African American, creating the impression that it is a black disease.

(Credit: SciePro/Shutterstock)

Yet scientists have known about the much more complexgeographic distributionof sickle cell mutation since the 1950s. It is almost nonexistent in the Americas, most parts of Europe and Asia and also in large swaths of Northern and Southern Africa. On the other hand, it is common in West-Central Africa and also parts of the Mediterranean, Arabian Peninsula, and India. Globally, it does not correlate with continents or socially defined races.

Inone of the most widely citedpapers in anthropology, American biological anthropologist Frank Livingstone helped to explain the evolution of sickle cell. He showed that places with a long history of agriculture and endemic malaria have a high prevalence of sickle cell trait (a single copy of the allele). He put this information together with experimental and clinical studies that showed how sickle cell trait helped people resist malaria, and made a compelling case for sickle cell trait being selected for in those areas.Evolution and geography, not race, explain sickle cell anemia.

What about forensic scientists: Are they good at identifying race? In the U.S., forensic anthropologists are typically employed by law enforcement agencies to help identify skeletons, including inferences about sex, age, height and race. The methodological gold standards for estimating race are algorithms based on a series of skull measurements, such as widest breadth and facial height. Forensic anthropologists assume these algorithms work.

The origin of the claim that forensic scientists are good at ascertaining race comes from a 1962 study of black, white and Native American skulls, which claimed an 8090 percent success rate. That forensic scientists are good at telling race from a skull is a standard trope of both thescientific literatureandpopular portrayals.But my analysisof four later tests showed that the correct classification of Native American skulls from other contexts and locations averaged about two incorrect for every correct identification. The results are no better than a random assignment of race.

Thats because humans are not divisible into biological races. On top of that, human variation does not stand still. Race groups are impossible to define in any stable or universal way. It cannot be done based on biology not by skin color, bone measurements or genetics. It cannot be done culturally: Race groupings have changed over time and place throughout history.

Science 101: If you cannot define groups consistently, then you cannot make scientific generalizations about them.

Skull measurements are a longstanding tool in forensic anthropology. (Credit: Internet Archive Book Images/Flickr/Public Domain)

Wherever one looks, race-as-genetics is bad science. Moreover, when society continues to chase genetic explanations, it misses the larger societal causes underlying racial inequalities in health, wealth and opportunity.

To be clear, what I am saying is that human biogenetic variation is real. Lets just continue to study human genetic variation free of the utterly constraining idea of race. When researchers want to discuss genetic ancestry or biological risks experienced by people in certain locations, they can do so without conflating these human groupings withracial categories. Lets be clear that genetic variation is an amazingly complex result of evolution and mustnt ever be reduced to race.

Similarly, race is real, it just isnt genetic. Its a culturally created phenomenon. We ought to know much more about the process of assigning individuals to a race group, including the category white. And we especially need to know more about the effects of living in a racialized world: for example, how a societys categoriesand prejudiceslead to health inequalities. Lets be clear that race is a purely sociopolitical construction with powerful consequences.

It is hard to convince people of the dangers of thinking race is based on genetic differences. Like climate change, the structure of human genetic variation isnt something we can see and touch, so it is hard to comprehend. And our culturally trained eyes play a trick on us by seeming to see race as obviously real. Race-as-genetics is even more deeply ideologically embedded than humanitys reliance on fossil fuels and consumerism. For these reasons, racial ideas will prove hard to shift, but it is possible.

Over 13,000 scientistshave come together to form and publicize a consensus statement about the climate crisis, and that has surely moved public opinion to align with science. Geneticists and anthropologists need to do the same for race-as-genetics. The recent American Association of Physical AnthropologistsStatement on Race & Racismis a fantastic start.

In the U.S., slavery ended over 150 years ago and the Civil Rights Law of 1964 passed half a century ago, but the ideology of race-as-genetics remains. It is time to throw race-as-genetics on the scrapheap of ideas that are no longer useful.

We can start by getting my friend and anyone else who has been denied that long-overdue bone density test.

Alan Goodmanis a professor of biological anthropology at Hampshire College in Massachusetts. This story was originally posted onSAPIENS. Read the original articlehere.

Continued here:
Race Is Real, But It's Not Genetic - Discover Magazine

- Full Data to be Presented at an Upcoming Medical Meeting -

Seattle Genetics, Inc. (Nasdaq:SGEN) today announced positive topline results from the phase 2 single-arm clinical trial known as innovaTV 204 evaluating tisotumab vedotin administered every three weeks for the treatment of patients who have relapsed or progressed on or after prior treatment for recurrent or metastatic cervical cancer. Results from the trial showed a 24 percent confirmed objective response rate (ORR) by independent central review [95% Confidence Interval: 15.9%-33.3%] with a median duration of response (DOR) of 8.3 months. The most common treatment-related adverse events (greater than or equal to 20 percent) included alopecia, epistaxis (nose bleeds), nausea, conjunctivitis, fatigue and dry eye. The data will be submitted for presentation at an upcoming medical meeting.

Tisotumab vedotin is an investigational antibody-drug conjugate (ADC) directed to tissue factor, which is expressed on cervical cancer and can promote tumor growth, angiogenesis and metastases.1 Standard therapies for previously treated recurrent and/or metastatic cervical cancer generally result in limited objective response rates of typically less than 15 percent with median overall survival ranging from 6.0 to 9.4 months, in an all-comers population.1-8 Tisotumab vedotin is being developed by Seattle Genetics in collaboration with Genmab.

"Available therapies upon progression after first line chemotherapy in recurrent or metastatic cervical cancer are limited, and there is a significant unmet need for new treatment options," said Roger Dansey, M.D., Chief Medical Officer at Seattle Genetics. "Tisotumab vedotin has demonstrated clinically meaningful and durable objective responses with a manageable safety profile, and we look forward to discussing with the FDA the potential submission of a Biologics License Application to support an accelerated approval."

Cervical cancer originates in the cells lining the cervix. Over 13,500 women are expected to be diagnosed with cervical cancer in the U.S. in 2020, with approximately 4,200 deaths.9 Cervical cancer remains one of the leading causes of cancer death in women globally, with over 311,000 women dying annually; the vast majority of these women being in the developing world.10 Routine medical examinations and the human papillomavirus (HPV) vaccine have lowered the incidence of cervical cancer in the developed world. Despite these advances, women are still diagnosed with cervical cancer, which often recurs or becomes metastatic.

Additional clinical trials of tisotumab vedotin are currently enrolling patients, including in combination with pembrolizumab, carboplatin or bevacizumab, and with a weekly dosing schedule in patients with locally advanced or metastatic cervical cancer. Tisotumab vedotin is also being evaluated in other tissue factor expressing tumor types, including ovarian and other solid tumors.

About innovaTV 204 Trial

The innovaTV 204 trial (also known as GCT1015-04 or innovaTV 204/GOG-3023/ENGOT-cx6) is an ongoing single-arm, global, multicenter study of tisotumab vedotin for patients with recurrent or metastatic cervical cancer who were previously treated with doublet chemotherapy with or without bevacizumab. Additionally, patients were eligible if they had received up to two prior lines of therapy in the metastatic setting. In the study, 101 patients were treated with tisotumab vedotin at multiple centers in the U.S. and Europe. The primary endpoint of the trial was confirmed objective response rate per Response Evaluation Criteria in Solid Tumors (RECIST) v1.1 as assessed by independent central review. Key secondary endpoints included duration of response, progression-free survival, overall survival, safety and tolerability.

The study was conducted in collaboration with European Network of Gynaecological Oncological Trial Groups (ENGOT) and Gynecologic Oncology Group (GOG). For more information about the phase 2 innovaTV 204 clinical trial and other clinical trials with tisotumab vedotin, please visit http://www.clinicaltrials.gov.

About Tisotumab Vedotin

Tisotumab vedotin is an investigational antibody-drug conjugate (ADC) composed of Genmabs fully human monoclonal antibody specific for tissue factor and Seattle Genetics ADC technology that utilizes a protease-cleavable linker that covalently attaches the microtubule-disrupting agent monomethyl auristatin E (MMAE) to the antibody and releases it upon internalization, inducing target cell death. In cancer biology, tissue factor is a protein that can promote tumor growth, angiogenesis and metastases.1 Based on its high expression on many solid tumors and its rapid internalization, tissue factor was selected as a target for an ADC approach. Tisotumab vedotin is being co-developed by Genmab and Seattle Genetics, under an agreement in which the companies share all costs and profits for the product on a 50:50 basis.

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Tisotumab vedotin is being evaluated in ongoing clinical trials as monotherapy in a range of solid tumors, including recurrent and/or metastatic cervical cancer, ovarian cancer and in combination with other commonly used therapies in recurrent or metastatic cervical cancer. These trials are evaluating tisotumab vedotin on a weekly or every three weeks dosing schedule.

About Seattle Genetics

Seattle Genetics, Inc. is a global biotechnology company that discovers, develops and commercializes transformative cancer medicines to make a meaningful difference in peoples lives. ADCETRIS (brentuximab vedotin) and PADCEVTM (enfortumab vedotin-ejfv) use the companys industry-leading antibody-drug conjugate (ADC) technology. ADCETRIS is approved in certain CD30-expressing lymphomas, and PADCEV is approved in certain metastatic urothelial cancers. TUKYSATM (tucatinib), a small molecule tyrosine kinase inhibitor, is approved in certain HER2-positive metastatic breast cancers. The company is headquartered in the Seattle, Washington area, with locations in California, Switzerland and the European Union. 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 potential submission of a BLA to the FDA under the FDAs accelerated approval program and the potential for regulatory approval of tisotumab vedotin based on the innovaTV 204 trial; the therapeutic potential of tisotumab vedotin, its possible benefits and uses, including as monotherapy or in combination with other agents, and in other tumor types or with a weekly dosing regimen, and the tisotumab vedotin future development program. 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 possibility that the data from innovaTV 204 may not be sufficient to support accelerated approval; the possibility of impediments or delays in the submission of a potential BLA to the FDA; the risk of adverse events, including the potential for newly-emerging safety signals; delays, setbacks or failures in clinical development activities for a variety of reasons, including the difficulty and uncertainty of pharmaceutical product development, adverse regulatory action, possible required modifications to clinical trials, failure to properly conduct or manage clinical trials and failure of clinical results to support continued development or regulatory approvals. 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 March 31, 2020 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:

1 Van de Berg YW et al. Blood 2012;119:924.2 Miller et al., Gynecol Oncol 2008; 110:65.3 Bookman et al., Gynecol Oncol 2000; 77:446.4 Garcia et al., Am J Clin Oncol 2007; 30:428.5 Monk et al., J Clin Oncol 2009; 27:1069.6 Santin et al., Gynecol Oncol 2011; 122:495.7 Schilder et al., Gynecol Oncol 2005; 96:1038 Chung HC et al. J Clin Oncol 2019; 37:1470.9 National Cancer Institute SEER. "Cancer Stat Facts: Cervix Uteri Cancer." Available at https://seer.cancer.gov/statfacts/html/cervix.html. Last accessed April 2020.10 Global Cancer Statistics 2018: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 countries https://www.iarc.fr/news-events/global-cancer-statistics-2018-globocan-estimates-of-incidence-and-mortality-worldwide-for-36-cancers-in-185-countries/.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200629005802/en/

Contacts

Seattle Genetics Media:Monique Greer, 425-527-4641mgreer@seagen.com

Investors:Peggy Pinkston, 425-527-4160ppinkston@seagen.com

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Seattle Genetics Announces Positive Topline Results from Phase 2 Clinical Trial of Tisotumab Vedotin in Recurrent or Metastatic Cervical Cancer -...

The combination of genomics, transcriptomics and proteomics sheds light on autoimmune thyroid disease, other autoimmune diseases and AML

REYKJAVIK, Iceland, June 24, 2020 /PRNewswire/ -- Scientists at deCODE genetics, a subsidiary of Amgen, and their collaborators from the Icelandic healthcare system, University of Iceland and the Karolinska Institute in Sweden, today publish a studyin Nature, comparing over 30 thousand patients with autoimmune thyroid disease from Iceland and UK with 725 thousand controls. Autoimmune thyroid disease (AITD) is the most common autoimmune disease and is highly heritable. The scientists found 99 sequence variants that associate with autoimmune thyroid disease and 84 of those had not been associated with the disease before.

One of the newly discovered sequence variants is in a gene that codes for the FLT3 receptor (fms-related tyrosine kinase 3) on blood cells and immune cells, and is of large interest for several reasons.

First, it strongly increases the risk of autoimmune thyroid disease and other autoimmune diseases, both systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and celiac disease. Thesediseases are all characterized by autoantibodies and are more common in women than men. Furthermore, patients with thesediseases are quite often affected by autoimmune thyroid disease as well.

Second, it is known that activating somatic mutations in the FLT3 gene associate with acute myeloid leukemia (AML). Therefore, the scientists tested whether this FLT3 germline variant, affects the risk of AML like it increases the risk of autoimmune diseases. It turned out that it almost doubles the risk of AML, but not the risk of cancer overall.

Third, it is quite remarkable that this variant in FLT3, which is in anintron of the gene and does not directly affect coding sequence, can have so strong effect on disease risk. It turns out that the variant introduces a stop codon in one-third of the transcripts, which results in a shorter protein that lacks the kinase part, which is essential for its function.

Finally, this variant in FLT3 affects the plasma levelsof several other proteins in the body, especially the ligand of FLT3, resulting in almost double the level in carriers. This molecular couple, the FLT3 receptor and its ligand, has a key role in the development of blood cells that are important in both acute myeloid leukemia and immune responses. Hence, this variant is a loss of function mutation that through compensatory increase in the level of the ligand, acts as a gain of function.

"This report describes a novel major risk gene for several autoimmune diseases, discovered through a genome-wide study on autoimmune thyroid disease, and how the risk variant affects the gene product, FLT3, and consequently the level of the ligand to the FLT3 receptor in blood, thereby demonstrating its functional importance," says Prof. Saedis Saevarsdottir, scientist atdeCODEgenetics and first author on the paper

"The discoveries presented in this paper are based on the sequential application of genomics, transcriptomics and proteomics; the combination of these three omics in a hypothesis independent manner yields a remarkably powerful approach to the study of human disease," says Kari Stefansson, CEO of deCODE genetics and senior author on the paper.

Based in Reykjavik, Iceland, deCODE is a global leader in analyzing and understanding the human genome. Using its unique expertise in human genetics combined with growing expertise in transcriptomics and population proteomics and vast amount of phenotypic data, deCODE has discovered risk factors for dozens of common diseases and provided key insights into their pathogenesis. The purpose of understanding the genetics of disease is to use that information to create new means of diagnosing, treating and preventing disease. deCODE is a wholly-owned subsidiary of Amgen (NASDAQ: AMGN).

Video - https://www.youtube.com/watch?v=Wa4OGAejKTs Photo - https://media.zenfs.com/en/prnewswire.com/65959edb04d7e824e88686a3d5635154 Logo - https://media.zenfs.com/en/prnewswire.com/5c073ade5135fe6bbd51ce8b6019cb27

Contact: Thora Kristin AsgeirsdottirPR and CommunicationsdeCODE geneticsthoraa@decode.is+354 894 1909

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deCODE Genetics: Loss of Function Variant in FLT3 Strongly Increases the Risk of Autoimmune Thyroid Disease and Other Autoimmune Diseases - Yahoo...

Scientists, biotech companies, and medical societies are reacting with outrage and dismay to President Trumps executive order (EO), signed on June 21, 2020, that restricts the issuance of new work visas for skilled workers and managers (and au pairs) through the end of 2020.

The visas affected include the H-1B, H-4, H-2B, L-1, and J categories. The EO means that foreign graduate students and postdocs would be banned from entering the United States. Almost every major research lab includes a diverse mix of research talent from around the world. Many of these scientists eventually lead their own groups, move to industry, and/or become naturalized U.S. citizens.

In the science community, many are reacting and expressing their concerns about the future of labs, and how the EO will affect research and innovation. Akiko Iwasaki, PhD, who is a professor in the department of immunobiology and department of molecular, cellular, and developmental biology at Yale University (and an investigator of the Howard Hughes Medical Institute) expressed her dismay.

Iwasaki tweeted: This is the worst thing thats happened to U.S. science and innovation. Banning immigrant scientists will lead to a devastating loss in creativity and productivity. Pretty much every lab in the U.S. will suffer.

The EO also extends Trumps April 22 order denying green cards to applicants in several immigrant visa categories. The Trump Administration says its goal is to protect 520,000 jobs and get Americans back to work. We have a moral duty to create an immigration system that protects the lives and jobs of our citizens, stated President Trump.

But many scientists in academia and industry not only disagree with the executive order but also highlight how their labs would look without their immigrant postdocs. Samantha Morris, PhD, an assistant professor of genetics, and developmental biology at Washington University School of Medicine, expressed her frustrations on Twitter.

I invest a lot of energy trying to recruit postdocs to my lab. I haven't received a SINGLE non-immigrant postdoc application in the past five years

Samantha Morris (@morris_lab) June 23, 2020

Florian Krammer, PhD, professor of microbiology at the Icahn School of Medicine at Mount Sinai in New York, expressed concern about colleagues working on SARS-CoV-2. I am about to hire a postdoc from Spain who is specialized in vaccine production and a postdoc from Japan who is specialized in mucosal immunity to virus infections. I might not be able to hire them if this is signed. Both would have worked on SARS-CoV-2 and influenza virus. Krammer also posted a picture of his lab with and without immigrants, and the image paints a picture of what research labs may look like.

My lab with and without immigrants. pic.twitter.com/aLJmUQFXEM

Florian Krammer (@florian_krammer) June 15, 2020

Lars Dietrich, PhD, associate professor, Department of Biological Sciences at Columbia University, who came to the U.S. through a work visa expressed his thoughts on the EO. The visa situation is disturbing. I came to the U.S. on a J1 visa, then transferred to H-1B before becoming faculty at Columbia University. Ive always been inspired by the way that, in U.S. academia, people of diverse backgrounds can come together to do transformative science. It reflects values that the U.S. can be proud of, and it sets an example. It really saddens me to see the erosion of this commitment to diversity.

Rebecca Bernhard, a partner at the law firm Dorsey & Whitney in immigration, labor and employment practices, highlighted some exemptions in the EO. One key exemption is for workers involved in the U.S. food supply system. This exemption should cover people involved in meatpacking and processing plants, as well as all aspects of the food supply chain from production to transportation and logistics, Bernhard said.

Another key exemption is for medical personnel working on COVID-19 research or treatment. Most physicians, nurses, and other medical personnel should still be able to obtain visas, Bernhard stated.

But what will this mean for companies working on vaccines and treatments for COVID-19? Major companies such as Moderna Therapeutics, GlaxoSmithKline, Inovio, and others who are currently working on a vaccine or treatment for COVID-19, had received approvals from the Department of Labor to hire foreign workers with either green cards or H-1B work visas more than 11,000 times from 2010 to 2019.

The American Society of Human Genetics (ASHG), the worlds largest genetics organization, is urging the White House to rescind their executive order as it will hinder the progress of science and better human health. They also point out the importance of connecting globally especially with the coronavirus crisis.

ASHG is deeply committed to a diverse and inclusive research workforce and honors those who come to U.S. labs from across the world to contribute to genetics and genomics advances in this country, said ASHG president Anthony Wynshaw-Boris, MD, PhD. Their experiences enrich American science and global science, and it is precisely Americas commitment to international collaboration that has made the U.S. a recognized global scientific leader. As the SARS-CoV-2 pandemic illustrates, we should be expanding global research connections that harness all minds to solve a problem, not closing our doors.

In a strongly worded statement, Kevin Wilson, director of public policy and media relations at the American Society for Cell Biology (ASCB), said the EO will hurt science in the United States. The decision by the Trump Administration to freeze through 2020 important U.S. visa programs that allow future scientists from around the world to come to the United States to learn is reprehensible. It goes against everything the United States stands for and violates the principle that scientific excellence requires collaboration, regardless of nationality.

The ASCB statement continued: It is American science and scientists who are the real victims of these policies. Without these talented individuals from around the globe, American biomedical research will not remain the world leader it is. If these policies are allowed to remain in place, the United States will no longer lead but will have to settle for the role of runner up.

H-1B visas are used for skilled workers and are common in the technology industry; H-4 visas are given to spouses of H-1B visa holders. H-2B visas apply to seasonal workers; L-1 visas are used for managers or executives transferring to the United States from positions abroad; and J-1 visas are given to scholars, researchers, and au pairs. The EO stops the issuance of all J-1s except for those going to physicians, medical researchers, or secondary school students. The order does not apply to immigrants already living and working in the United States nor to permanent residents seeking to become citizens.

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Scientists and Societies Decry Trump Executive Order on Immigration Visas - Genetic Engineering & Biotechnology News

Tobacco smoke, UV radiation, and certain chemicals are some of the factors that can damage the genetic material of cells, triggering cancer. These factors modify individual letters in the DNA code, called nucleotides. When a cell divides, some of these errors or lesions are resolved by a mechanism called DNA repair, but others remain unrepaired and become permanent changes in the DNA, known as mutations. This can result in health problems, such as cancer. Such mutational processes are extremely complex and there are still many unanswered questions about how they work.

A new study led by the University of Cambridge and the University of Edinburgh, and supported by EMBL-EBI, has examined the evolution of tumours in mice following chemical damage. The research, published in the journal Nature, shows that DNA lesions caused by chemical damage are not eliminated immediately, but are passed on unrepaired through several rounds of cell division.

Lesion segregation

The researchers also found that, during cell division, the two DNA strands each with its own set of lesions and mutations, are separated into two daughter cells with different patterns of DNA changes. During further rounds of replication, the lesions repeatedly generate new combinations of mutations. This phenomenon, called lesion segregation, can result in extremely complex patterns of mutations in a tumours genome.

The researchers used the DNA-damaging chemical diethylnitrosamine to induce liver tumours in mice, and then analysed the tumour genomes.

Persistent DNA lesions induced by chemotherapeutic agents segregate and produce several generations of further mutations. We need to be aware of this therapeutically, and in future drug development," says Martin Taylor from the University of Edinburghs MRC Human Genetics Unit.

A model for mutational processes

These new insights into how mutational processes work are interesting and unexpected, says Paul Flicek, Associate Director of EMBL-EBI Services. The idea that DNA lesions are not resolved within a cell cycle and stay around for a long time is an important one. It shows that cells can evolve faster than the machinery can fix them and this has implications for how we think about cancer.

Image: Artist's impression of DNA lesions. Credit: Petra Korlevic

Find out more about the study:

Source articlesAITKEN, S.J., et al. (2020). Pervasive legion segregation shapes cancer genome evolution. Nature. Published online 24 06; DOI: 10.1038/s41586-020-2435-1

FundingThis project was supported by a strategic sequencing award and Institutional core funding from Cancer Research UK, as well as grants from the European Research Council, UKRI/Medical Research Council, and Wellcome.

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Unpicking the complexity of DNA mutations - Cambridge Network

Published 30 June 2020

A radical new way of thinking about soil has finally solved the mystery of why adding organic material like manure improves flood and drought resilience, climate control and crop yields - universal ecosystem services that are widely recognised as worth billions to the global economy.

Founded on more than 50 years worth of data from a unique field experiment, researchers have demonstrated that common farming practices drain the soil of carbon, altering the structure of soils microscopic habitat and, remarkably, the genetics of microbes living within it.

The team of microbiologists and physicists, led by Rothamsted Research, considered almost 9,000 genes, and used X-ray imaging to look at soil pores smaller than the width of a human hair, and in concert with previous work, have started forming what they envisage will be a universal Theory of Soil (see Notes).

In healthy soils, relatively low nitrogen levels limit microbes ability to utilise carbon compounds, so they excrete them as polymers which act as a kind of glue - creating a porous, interconnected structure in the soil which allows water, air, and nutrients to circulate.

Writing in the journal Scientific Reports, the researchers reveal that the Victorian-era switch from manure to ammonia and phosphorous based fertilizers has caused microbes to metabolise more carbon, excrete less polymers and fundamentally alter the properties of farmland soils when compared to their original grassland state.

Lead researcher Professor Andrew Neal said: We noticed that as carbon is lost from soil, the pores within it become smaller and less connected.This results in fundamental changes in the flow of water, nutrients and oxygen through soil and forces several significant changes to microbial behaviour and metabolism. Low carbon, poorly connected soils are much less efficient at supporting growth and recycling nutrients.

A lack of oxygen in soil results in microbes having to turn to nitrogen and sulphur compounds for their energy-inefficient processes, he says, which result in increased emissions of the greenhouse gas nitrous oxide among other issues.

The closed soil structure also means microbes need to expend more energy on activities such as searching out and degrading less easily accessible organic matter for nutrients.

Conversely, in carbon-rich soil there is an extensive network of pores which allow for greater circulation of air, nutrients and retention of water.

Professor Neal added: Manure is high in carbon and nitrogen, whereas ammonia-based fertilisers are devoid of carbon. Decades of such inputs - and soil processes typically act over decades - have changed the way soil microbes get their energy and nutrients, and how they respire.

Whilst soil carbon was already known to drive climate and water cycles the world over, it took a chance discussion between experts working at very different scales to discover the reason why.

The idea to look at this link between the living and non-living components of soil came about through a discussion between an expert in microbial genetics Professor Andrew Neal, and Professor John Crawford now at the University of Glasgow - who studies the way complex systems behave.

Despite carbons critical role, the mechanisms underlying carbon dynamics and the link to soil water were poorly understood, said Professor Neal.Society struggles with the concept of what soil is and how it can be managed effectively because it is such a complex combination of biological, chemical and physical processes.

We took inspiration from a theory proposed by Richard Dawkins in the 1980s that many structures we encounter are in fact products of organisms genes Dawkins used the examples of bird nests and beaver dams.This view helped us understand soil as a product of microbial genes, incorporating organic materials from plants and other inputs to create all-important structure.

We have shown for the first time a dynamic interaction between soil structure and microbial activity - fuelled by carbon - which regulates water storage and gaseous flow rates in soil with real consequences for how microbes respire.

The group, which also involved scientists from the University of Nottingham, are the first to seriously study the details of this intimate two-way relationship between the microscopic life in soil and its structure at scales relevant to microbial processes.

The results also demonstrated why soils can sometimes show great resilience to human interventions.

Although years of intensive management practices have altered what compounds microbes predominantly live on and increased the frequency of genes that allow this lifestyle, very few genes are ever completely lost from the system. That crucially allows soils to respond to changes and these results can really help with any future remediation efforts, said Professor Neal.

Microbes are very good at acquiring genes from each other, which is why rather than look at different species we looked at the abundance of different genes and what functions they ultimately coded for.

The results also have implications for farmers, where the addition of nitrogen and phosphorous fertilizers - and not carbon - may in fact be leading to a degradation of the natural fertility and the efficiency with which nutrients are processed in their soils that will be detrimental to the long term productivity of their farm.

The negative impacts of increased leakiness of the soil system include nutrient loss to the atmosphere and rivers.

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And finally... Where there's muck, there's brass - Scottish Construction Now

Researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague. The study, carried out by scientists at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, determined that specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also confer increased resilience to the plague.

The researchers suggest that because of this potential advantage, FMF-causing genomic variants have been positively selected for in Mediterranean populations over centuries. The findings were published in the journal Nature Immunology.

Over centuries, a biological arms race has been fought between humans and microbial pathogens. This evolutionary battle is between the human immune system and microorganisms trying to invade our bodies. Microbes affect the human genome in many ways. For example, they can influence some of the genomic variation that accumulates in human populations over time.

"In this era of a new pandemic, understanding the interplay between microbes and humans is ever critical," said Dr. Dan Kastner, NHGRI scientific director and a co-author on the paper. We can witness evolution playing out before our very eyes.

One such microbe is Yersinia pestis, the bacterial agent responsible for a series of well-documented bubonic plague(link is external) epidemics that led to over 50 million deaths.

FMF, like the plague, is an ancient disease. It is the most common periodic fever syndrome, and symptoms of FMF include recurrent fevers, arthritis, rashes and inflammation of the tissues that line the heart, lungs, and abdominal organs. FMF may also lead to renal failure and death without treatment. The disease appears across the Mediterranean region and mostly affects Turkish, Jewish, Armenian and Arab populations.

Genomic variants in the MEFV gene cause FMF. MEFV encodes a protein called pyrin. In healthy people, pyrin plays a role in the inflammatory response of the body. Pyrin is activated when there is an immune response (for example, in the event of an infection). Pyrin increases inflammation and the production of inflammation-related molecules.

In contrast, FMF patients produce abnormal pyrin because of genomic variants (mutations) in the MEFV gene. Mutated pyrin does not need an infection or other immune trigger to be activated; rather, it is able to directly predispose people to seemingly unprovoked episodes of fever and inflammation.

The MEFV mutations also have other usual properties. Researchers have discovered that people with only one copy of a MEFV genomic variant that causes FMF do not get the disease. Also, prior to effective treatment, those with two copies have high mortality rate by the age of 40, but usually live long enough to have children.

Despite the lower survival rate, almost 10% of Turks, Jews, Arabs and Armenians carry at least one copy of an FMF-causing genomic variant. If chance were the only factor, that percentage would be much lower.

The researchers proposed that this higher percentage was a consequence of positive natural selection, which is an evolutionary process that drives an increase in specific genomic variants and traits that are advantageous in some way.

"Just like sickle cell trait is positively selected for because it protects against malaria, we speculated that the mutant pyrin in FMF might be helping the Mediterranean population in some way," said Jae Jin Chae, Ph.D., senior author of the paper and a staff scientist in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. "The mutant pyrin may be protecting them from some fatal infection."

The team turned to Yersinia pestis, the infamous bubonic plague-causing bacterium, as a possible candidate for driving the evolutionary selection for FMF mutations in the Mediterranean population.

It turns out Yersinia pestis contains a particular molecule that represses the function of pyrin in healthy individuals. In doing so, the pathogen suppresses the body's inflammatory response to the infection. This way, the body cannot fight back.

"Inflammation is a process in which white blood cells protect the body from infection. From the host's point of view, inflammation helps us survive. From the bacteria's point of view, inflammation is something to be evaded by any means available," said Daniel Shriner, Ph.D., staff scientist in the Center for Research on Genomics and Global Health at NHGRI.

Researchers were struck by the fact that Yersinia pestis affects the very protein that is mutated in FMF. They considered the possibility that FMF-causing genomic variants may protect individuals from the bubonic plague caused by Yersinia pestis.

The idea that evolution would push for one disease in a group to fight another may seem counterintuitive. But it comes down to what is the least bad option.

The average mortality rate of people with bubonic plague over centuries has been as high as 66%, while, even with a carrier frequency of 10%, less than 1% of the population has FMF. Theoretically, the evolutionary odds are in the latter's favor.

But first, the team had to verify if two of the genomic variants that cause FMF had indeed undergone positive selection in Mediterranean populations.

For this, they performed genetic analysis on a large cohort of 2,313 Turkish individuals. They also examined genomes from 352 ancient archaeological samples, including 261 from before the Christian era. The researchers tested for the presence of two FMF-causing genomic variants in both groups of samples. They also used population genetics principles and mathematical modeling to predict how the frequency of FMF-causing genomic variants changed over generations.

"We found that both FMF-causing genomic variants arose more than 2,000 years ago, before the Justinian Plague and the Black Death. Both variants were associated with evidence of positive selection," said Elaine Remmers, Ph.D., associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.

Researchers then studied how Yersinia pestis interacts with FMF-causing genomic variants. They took samples of particular white blood cells from FMF patients. In addition, they took samples from people who carry just one copy of the genomic variants (hence, do not get the disease).

The team found that Yersinia pestis does not reduce inflammation in white blood cells acquired from FMF patients and people with one copy of FMF-causing genomic variants. This finding is in stark contrast to the fact that Yersinia pestis reduces inflammation in cells without FMF-associated mutations.

The researchers thought that if Yersinia pestis does not reduce inflammation in people with FMF, then perhaps this could potentially increase patients' survival rate when infected by the pathogen.

To test this hypothesis, the researchers genetically engineered mice with FMF-causing genomic variants. They infected both healthy and genetically engineered mice with Yersinia pestis. Their results showed that infected mice with the FMF-causing genomic variant had significantly increased survival as compared to infected healthy mice.

These findings, in combination, indicate that over centuries, FMF-causing genomic variants positively selected in Turkish populations play a role in providing resistance to Yersinia pestis infection. Whether the same is true for other Mediterranean populations remains to be seen. The study offers a glimpse into the unexpected and long-lasting influence of microbes on human biology.

ReferencePark, Y.H., Remmers, E.F., Lee, W. et al. Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis. Nat Immunol (2020). https://doi.org/10.1038/s41590-020-0705-6.

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Cause of Common Autoinflammatory Disease May Have Protected Ancestors From Plague - Technology Networks