Category Archives: Human Genetics

"This study highlights a significant shift in how primary care physicians view DTC genetic health testing."

The report also found 80 percent of PCPs are open or likely to recommend DTC genetic testing for health if asked about it by their patients, and for 61 percent of PCPs, FDA oversight of health reports was a necessary element of any DTC genetic test they might recommend.

"This study highlights a significant shift in how primary care physicians view DTC genetic health testing," said L. Okey Onyejekwe Jr., MD, JD, Vice President of Healthcare Operations and Medical Affairs at 23andMe. "In just two year's time, the data show PCPs are much more accepting, and in some cases wholeheartedly embracing this type of testing, especially tests that include health reports with FDA oversight. As more consumers turn to DTC genetic testing for health insights into their genome, it's encouraging to see that PCPs are much more open to patients bringing their test results into the clinic for further discussion and potential follow up testing when warranted."

When it comes to all genetic testing, not just DTC genetic testing, 71 percent of PCPs are comfortable making appropriate referrals to specialists based on genetic information, compared to 44 percent in 2018. Further, 46 percent of PCPs are comfortable ordering genetic testing, a four-fold increase from 2018, and 41 percent are comfortable using genetic information to make treatment decisions, a two-fold increase over 2018.

"The shift in the primary care community's point of view on genetic testing over a relatively short period of time is striking, and points to the tests results having greater utility and impact in patient care," said Hansa Bhargava, M.D., Medscape Senior Medical Director. "We are pleased that we could contribute to increasing awareness of the role of genetic testing in the primary care environment."

Methodology

This report was completed by 1,000 U.S. primary care physicians on the Medscape platform between August 26, 2020 and September 14, 2020. Ninety percent of respondents practice Family or Internal medicine and respondents have practiced an average of 19 years. Respondents were invited to respond to the online survey. The margin of error at a 95% confidence level is +/- 3.0%. The report is a follow-up to a 2018 report on the same topic, which was completed by 1,000 U.S. primary care physicians on the Medscape platform between October 25, 2018 and November 22, 2018.

About Medscape

Medscape is the leading source of clinical news, health information, and point-of-care tools for health care professionals. Medscape offers specialists, primary care physicians, and other health professionals the most robust and integrated medical information and educational tools. Medscape Education (medscape.org) is the leading destination for continuous professional development, consisting of more than 30 specialty-focused destinations offering thousands of free C.M.E. and C.E. courses and other educational programs for physicians, nurses, and other health care professionals. Medscape is a subsidiary of WebMD Health Corp.

About WebMD Health Corp.

WebMD Health Corp., an Internet Brands Company, is the leading provider of health information services, serving patients, physicians, health care professionals, employers, and health plans through public and private online portals, mobile platforms, and health-focused publications. The WebMD Health Network includes WebMD Health, Medscape, Jobson Healthcare Information, prIME Oncology, MediQuality, Frontline, Vitals Consumer Services, Aptus Health, MedicineNet, eMedicineHealth, RxList, OnHealth, Medscape Education, and other owned WebMD sites. WebMD, Medscape, CME Circle, Medpulse, eMedicine, MedicineNet, theheart.org, and RxList are among the trademarks of WebMD Health Corp. or its subsidiaries.

About 23andMe

23andMe, Inc. is the leading consumer genetics and research company. Founded in 2006, the mission of the company is to help people access, understand, and benefit from the human genome. 23andMe is the first direct-to-consumer company to receive FDA authorization for genetic health reports, and has millions of customers worldwide, with more than 80 percent of customers consented to participate in research. 23andMe, Inc. is located in Sunnyvale, CA. More information is available at http://www.23andMe.com.

SOURCE 23andMe

https://www.23andme.com/en-ca/

Original post:
Medscape study in collaboration with 23andMe finds Primary Care Physicians are increasingly more comfortable with direct-to-consumer genetic health...

The Gaucher Disease Treatment Market Research Report is a resource, which provides current as well as upcoming technical and financial details of the industry to 2027. This report gives you so important and essentials data of Market size, share, trends, Growth, applications, forecast and cost analysis. Delivery development in North America, China, Europe, and South East Asia, Japan as well as in the Globe. The report proves to be indispensable when it comes to market definition, classifications, applications and engagements. The market report also computes the market size and revenue generated from the sales. The industry analysis report presents the key statistics on the market status of global and regional manufacturers and also acts as a valuable source of leadership and direction. What is more, theGaucher Disease Treatment market report analyses and provides historic data along with the current performance of the market

Gaucher disease is an autosomal recessive inherited metabolism disorder where a type of fat (lipid) called glucocerebroside is unable to degrade. Body synthesis enzyme called glucocerebrosidase, which breakdowns and reprocesses glucocerebroside. Gaucher disease is caused by mutations of a single gene called GBA, which leads to very low levels of glucocerebrosidase enzyme leading to low degradation of glucocerebroside. There are three types of Gaucher disease namely: type 1, type 2, and type 3. Type 1 is the most common type of Gaucher disease while Type 2 and 3 are not as common as type 1.

This Press Release will help you to Know the Volume, growth with Impacting Trends. Get SAMPLE PDF (Including Full TOC, Table & Figures) at:

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Global Gaucher Disease Treatment Market competition by Top Key Players: Genzyme Corporation, Pfizer, Inc., Shire Human Genetics Therapies, Inc., and Actelion Pharmaceuticals Ltd. (acquired by Johnson & Johnson in June 2017). There are various drugs in pipeline of companies such as Lixte Biotechnology Holdings Inc, JCR Pharmaceuticals Co Ltd, Pharming Group NV and Orphazyme ApS, for Gaucher disease treatment.

Gaucher Disease Treatment Market section by Region:

The Middle East and Africa North AmericaSouth AmericaEuropeAsia-Pacific

Segmentation: The report has been separated into different categories, such as product type, application, end user, and region. Every segment is evaluated based on the CAGR, share and growth potential. In the regional analysis, the report highlights the prospective region, which should generate opportunities in the global Gaucher Disease Treatment market in the years to come. This segmented analysis will surely prove to be a useful tool for readers, stakeholders and market participants to get a full picture of the Gaucher Disease Treatment global market and its growth potential in the years to come.

TheGaucher Disease TreatmentMarket report offers a plethora of insights which include:

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Important Information that can be extracted from the Report:

Assessment of the COVID-19 impact on the growth of the Gaucher Disease Treatment MarketSuccessful market entry strategies formulated by emerging market playersPricing and marketing strategies adopted by established market playersCountry-wise assessment of the Gaucher Disease Treatment Market in key regionsYear-on-Year growth of each market segment over the forecast period 2026

TheGaucher Disease TreatmentMarket report considers the following years to predict market growth:

The GlobalGaucher Disease TreatmentMarket is displayed in 13 Chapters:

Chapter 1: Market Overview, Drivers, Restraints and OpportunitiesChapter 2: Market Competition by ManufacturersChapter 3: Production by RegionsChapter 4: Consumption by RegionsChapter 5: Production, By Types, Revenue and Market share by TypesChapter 6: Consumption, By Applications, Market share (%) and Growth Rate by ApplicationsChapter 7: Complete profiling and analysis of ManufacturersChapter 8: Manufacturing cost analysis, Raw materials analysis, Region-wise manufacturing expensesChapter 9: Industrial Chain, Sourcing Strategy and Downstream BuyersChapter 10: Marketing Strategy Analysis, Distributors/TradersChapter 11: Market Effect Factors AnalysisChapter 12: Market ForecastChapter 13:Gaucher Disease Treatment Research Findings and Conclusion, Appendix, methodology and data source

Original post:
Gaucher Disease Treatment Market: Shows Increasing Demand To Be Observed In The Coming Decade | Genzyme Corporation, Pfizer, Inc., Shire Human...

Please join us for the latest instalment of the Wright-Fleming Institute Infection and Immunity Seminar Series.

Dr David Bauer (Francis Crick Institute) will deliver a talk on The Role of RNA Structure in Replication of Influenza and Coronaviruses.

The seminar will be hosted via Microsoft Teams. All are welcome to attend.

David is a new group leader at the Francis Crick Institute, where he heads the RNA Virus Replication Laboratory. His work focuses on how virus RNA structure affects replication, transcription, and immune activation. Originally from New York, David carried out his doctoral work at the Wellcome Trust Centre for Human Genetics and received an NSF postdoctoral fellowship to study RNA polymerases and transcription using single-molecule methods with Achilles Kapanidis at Oxford. David then joined Ervin Fodors group at the Dunn School of Pathology in Oxford to study influenza virus transcription, combining his interests in genomics and RNA.

Join the meeting via Microsoft Teams

See the original post here:
The Role of RNA Structure in Replication of Influenza and Coronaviruses - Imperial College London

Their eyes met across the rugged mountain landscape of prehistoric Romania.

He was a Neanderthal, and stark naked apart from a fur cape. He had good posture and pale skin, perhaps reddened slightly with sunburn. Around one of his thick, muscular biceps he wore bracelet of eagle-talons. She was an early modern human, clad in an animal-skin coat with a wolf-fur trim. She had dark skin, long legs, and her hair was worn in braids.

He cleared his throat, looked her up and down, and in an absurdly high-pitched, nasal voice deployed his best chat-up line. She stared back blankly. Luckily for him, they didnt speak the same language. They had an awkward laugh and, well, we can all guess what happened next.

Of course, it could have been far less like a scene from a steamy romance novel. Perhaps the woman was actually the Neanderthal and the man belonged to our own species. Maybe their relationship was of the casual, pragmatic kind, because there just werent many people around at the time. Its even been suggested, too, that such hook-ups werent consensual.

While we will never know what really happened in this encounter or others like it what we can be sure of is that such a couple did get together. Around 37,000-42,000 years later, in February 2002, two explorers made an extraordinary discovery in an underground cave system in the southwestern Carpathian mountains, near the Romanian town of Anina.

Even getting there was no easy task. First they waded neck-deep in an underground river for 200m (656ft). Then came a scuba dive for 30m (98ft) along an underwater passage, followed by a 300-metre (984ft) ascent up to the poarta, or mouse hole an opening through which they entered a previously unknown chamber.

Inside the Petera cu Oase, or "Cave with Bones", they found thousands of mammalian bones. Over its long history, its thought to have primarily been inhabited by male cave bears extinct relatives of the brown bear to which they largely belong. Resting on the surface among them was a human jawbone, which radiocarbon dating revealed to be from one of the oldest known early modern humans in Europe.

Read this article:
Here's what we know sex with Neanderthals was like - BBC News

This Global Gaucher Disease Treatment Market report has been formulated by considering an ever-increasing demand and the value of market research for the success of different business sectors. This market report comprises many work areas of the Healthcare industry. It is not only professional but also is comprehensive which focuses on primary and secondary drivers, market share, competitor analysis, leading segments and geographical analysis.

The size of the global Gaucher Disease Treatment Market is expected to grow in the forecast period from 2020 to 2027, with a CAGR of XX. x% over the forecast period from 2020 to 2027 and is expected to reach XXX. X million by 2027, starting at XXX. X million in 2019.

Gaucher disease is an autosomal recessive inherited metabolism disorder where a type of fat (lipid) called glucocerebroside is unable to degrade. Body synthesis enzyme called glucocerebrosidase, which breakdowns and reprocesses glucocerebroside. Gaucher disease is caused by mutations of a single gene called GBA, which leads to very low levels of glucocerebrosidase enzyme leading to low degradation of glucocerebroside. There are three types of Gaucher disease namely: type 1, type 2, and type 3. Type 1 is the most common type of Gaucher disease while Type 2 and 3 are not as common as type 1.

Global Gaucher Disease Treatment Market competition by Top Key Players: Genzyme Corporation, Pfizer, Inc., Shire Human Genetics Therapies, Inc., and Actelion Pharmaceuticals Ltd. (acquired by Johnson & Johnson in June 2017). There are various drugs in pipeline of companies such as Lixte Biotechnology Holdings Inc, JCR Pharmaceuticals Co Ltd, Pharming Group NV and Orphazyme ApS, for Gaucher disease treatment.

Get PDF Brochure Of This Research Report @ https://www.coherentmarketinsights.com/insight/request-pdf/1225

Segmentation:

The report has been separated into separate categories, such as product type, application, end-user, and region. Each segment is evaluated based on the CAGR, share and growth potential. In the regional analysis, the report highlights the prospective region, which should generate opportunities in the global Gaucher Disease Treatment market in the years to come. This segmented analysis will surely prove to be a useful tool for readers, stakeholders and market participants to get a full picture of the Gaucher Disease Treatment global market and its growth potential in the years to come.

Analysis Of The Competitive Landscape:

The competitive landscape is an essential aspect that all key players must know. The report highlights the competitive scenario of the Gaucher Disease Treatment global market for competing nationally and globally. Market experts also presented an overview of all major players in the global Gaucher Disease Treatment market, taking into account key aspects such as the areas of operation, production and the product portfolio. In addition, the companies in the report are studied based on key factors such as company size, market share, market growth, revenues, production volume and profits.

Market Scope

The Global Gaucher Disease Treatment Market Analysis to 2027 is a specialized and in-depth study of theHealthcare industry with a special focus on the global market trend analysis. The report aims to provide an overview of the Gaucher Disease Treatment market with detailed market segmentation by component, product, application, and geography. The global Gaucher Disease Treatment market is expected to witness high growth during the forecast period. The report provides key statistics on the market status of the leading Gaucher Disease Treatment market players and offers key trends and opportunities in the market.

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Promising Regions & Countries Mentioned In The Gaucher Disease Treatment Market Report:

Table of Content (TOC):

Chapter 1 Introduction and Overview

Chapter 2 Industry Cost Structure and Economic Impact

Chapter 3 Rising Trends and New Technologies with Major key players

Chapter 4 Global Gaucher Disease Treatment Market Analysis, Trends, Growth Factor

Chapter 5 Gaucher Disease Treatment Market Application and Business with Potential Analysis

Chapter 6 Global Gaucher Disease Treatment Market Segment, Type, Application

Chapter 7 Global Gaucher Disease Treatment Market Analysis (by Application, Type, End-User)

Chapter 8 Major Key Vendors Analysis of Gaucher Disease Treatment Market

Chapter 9 Development Trend of Analysis

Chapter 10 Conclusion

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Also, Research Report Examines:

Competitive companies and manufacturers in the global marketBy Product Type, Applications & Growth FactorsIndustry Status and Outlook for Major Applications / End Users / Usage Area

Thanks for reading this article; you can also get individual chapter wise section or region wise report versions like North America, Europe or Asia.

Continued here:
Gaucher Disease Treatment Market Shows Expected Trend to Guide from 2020-2026 with Growth Analysis | Genzyme Corporation, Pfizer, Inc., Shire Human...

Here are some of the most interesting research papers to have appeared in top science journals last week.

(Subscribe to Science For All, our weekly newsletter, where we aim to take the jargon out of science and put the fun in. Click here.)

Published in Nature

Australias duck-billed platypus are the perfect example of weird - they lay eggs, nurse their young ones, are toothless with webbed feet, and most interestingly, have 10 sex chromosomes.

Belonging to an ancient group of mammals called monotremes, platypus have always confused scientists. Now, by mapping the complete genome of the mammal, researchers have answered a few questions about the species. The team explains that they are a mixture of mammals, birds and reptiles and have preserved many of their ancestors original features which help in adapting to the environment they live in.

Published in Nature Plants

One particular type of rice plant grown in Zhejiang,China was found to be resistant to the plant pathogen Burkholderia plantarii. But how and why? Researchers who studied the seed of the plant found that a bacteria called Sphingomonas meloni that lived inside the seed helped the plant gain this resistance. The bacteria produce an acid called anthranilic acid which inhibits the pathogen thus saving the crop.

Published in Nature Methods

Minion device. Credit: https://nanoporetech.com/

Weighing just 450gm and measuring 14cm, Oxford Nanopore Technologies MinION device has helped sequence DNA on the go. Now, using special molecular tags, a team from the University of British Columbia has reduced the error rate to less than 0.005%. A beautiful thing about this method is that it is applicable to any gene of interest that can be amplified...it can be very useful in any field where the combination of high-accuracy and long-range genomic information is valuable, such as cancer research, human genetics and microbiome science," writes Ryan Ziels, one of the authors of the study, in a release.

Published in Nature Climate Change

By the late 21st century, the population facing extreme droughts could more than double - from 3% ( from 1976 to 2005) to 8% by 2099. The team notes that this could heighten human migration and conflict. The paper, based on 27 global climate-hydrological model simulations spanning 125 years, also stresses the urgent need for water resources management.

Published in Cell Host & Microbe

Phytoplankton bloom in the Arabian Gulf, Credit: Jeff Schmaltz, MODIS Rapid Response Team, NASA/GSFC.

Researchers have now found that viruses play an important role in microalgae evolution by whole-genome sequencing 107 different species of microalgae from different ecosystems. They compared the genomes of salt-water (marine) and fresh-water microalgae and found that the marine species contained more viral-origin genes. Sequences from Chlorovirus, Coccolithovirus, Pandoravirus, Marseillevirus, Tupanvirus, and other viruses were found integrated into the genomes of algal from marine environments, notes the paper.

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Original post:
Best from science journals: Why are platypus so weird? - The Hindu

Kathryn Anderson, a developmental biologist at the Memorial Sloan Kettering Cancer Center known for her work detailing the genetics of early embryogenesis, died November 30 at age 68.

Throughout her scientific career, Anderson used rigorous genetic screening assays to identify mutations suspected of disrupting cell division and differentiation in model systems. Having identified a gene of interest, she would then turn to a technique known as forward genetics, creating model organisms such as fruit flies and mice with a particular phenotype to better understand its molecular underpinnings. Using these tools, Anderson made important contributions to scientists understanding of several genetic pathwaysmost notably the Toll and Hedgehog pathwaysrequired for proper development of these animals.

Kathryn was fearless and very open-minded, Tatiana Omelchenko, a senior research scientist in Andersons lab who uses confocal microscopy to do live imaging of mouse embryos, tells The Scientist. Every lab has its own environment and its own mood, and when you stepped into Kathryns lab, you immediately felt very focused.

Born in La Jolla, California, in 1952, Anderson became interested in science at a young age, stemming back to an article in LIFEthat included a detailed image of a human fetus, according to an interview released shortly after her death. She attended the University of California, Berkeley, where she earned her undergraduate degree in biochemistry before heading to a graduate program in neurodevelopment at Stanford University in 1973.

Anderson left that program after only two years, earning a masters degree in neuroscience, and spent the next several years looking for her scientific niche. She enrolled briefly in medical school at the University of California, San Diego, an experience that led her to realize her love of basic research. The clinical work wasnt my cup of tea, Anderson shared in a 2005 biography. The lab was where I felt most at home.

Ultimately, Anderson landed at the University of California, Los Angeles, studying the developmental genetics of Drosophilaunder the guidance of biologist Judith Lengyel. For her PhD work, Anderson showed that in the first two hours after fertilization, the development of Drosophilaembryos remains under maternal control, with maternal RNA and proteins directing cell division and differentiation within the egg.

Looking to further her study of fruit flies, Anderson next traveled to the Max Planck Institute for Developmental Biology in Germany as a postdoc to work with Drosophilageneticist Christiane Nsslein-Volhard. In 1995, Nsslein-Volhard would share a Nobel Prize for her work using mass screenings to identify mutations that disrupt embryonic development, and Anderson would continue studying a handful of the genes identified in these early screens throughout her career.

One such gene, known as Toll, turned out to play an important role in dorsal-ventral (D-V) differentiationdictating, as Anderson said in her biography, how a fly embryo knows its back from its belly. In addition to probing the function of Toll,Anderson continued building out the wider Toll pathway after returning to the University of California, Berkeley, as an assistant professor in 1985, and later in her own lab at the Sloan Kettering Institute, which she launched in 1996 at Memorial Sloan Kettering. During this time, Anderson and her team identified roughly a dozen genes involved in cell differentiation along the D-V axis, and she used similar screening methods to better understand Tolls role in innate immunity of Drosophila. Her findings were noted by geneticists Jules Hoffmann and Bruce Beutler, whose study of Toll-like receptors in both fruit fly and mammalian immunity would later earn them a Nobel Prize.

Kathryn Anderson

Memorial Sloan Kettering Cancer Center

After her successes in fruit flies, Anderson began thinking about applying her same methods to the study of mice. She spent a year on sabbatical in the lab of Rosa Beddington at the National Institute for Medical Research in the UK, where she showed that Toll had no analogous role in the D-V differentiation of mammals. It demonstrated, she said in a 2016 interview with Development, that there are things about early mammalian development that you cant figure out by extrapolating from flies.

Back at the Sloan Kettering Institute, Anderson began once again using mass genetic screenings, this time to identify mutations of interest in mice, and then studying them in fine detail. These were lengthy experiments that often took years to yield results. I think her major contribution is discovering the functions and roles of genes through this mutagenesis screen, Omelchenko says. This is amazing because . . . the mouse embryo model is quite complex, but she did the work.

Anderson and her team screened more than 12,000 mutations, selecting roughly 40 that produce obvious phenotypic disruptions midway through gestation. Working diligently over many years, Anderson identified previously unknown pathways that have since prompted new research directions in the field of developmental biology.

Through her screening, for example, Anderson identified a previously unknown relationship between ciliamicroscopic, hairlike structures on the outside of some cellsand proper signaling of the Hedgehog pathway that dictates cell differentiation in mammalian embryos. Further research showed that components of this pathway are enriched in cilia, while mice with certain mutations in genes involved in Hedgehog signaling lacked cilia altogether in a structure called the node that directs gastrulation in vertebrate embryos. That turned out to be pretty amazing, actually: theres this whole organelle required for Hedgehog signaling in vertebrates, but not in flies, Anderson said in her Developmentinterview. Its a geneticists dream, but raises the question of why organize the genome like this: there are so many weak points in Hedgehog signalingand Hedgehog is so vital.

For her contributions to the field of developmental biology, Anderson was inducted into the National Academy of Sciences in 2002 and elected as a member of the Institute of Medicine of the National Academies in 2008. In addition, she was awarded the Thomas Hunt Morgan Medal for lifetime contributions to the science of genetics in 2012, the Federation of American Societies for Experimental Biologys Excellence in Science Award in 2014, and the Society for Developmental Biologys Edwin G. Conklin Medal for distinguished and sustained research in 2016, among other honors.

Prior to her death, Anderson had spoken about the possible extension of her research into human genetics, as disruptions in hedgehog signaling have since been linked both to birth defects and to a series of diseases referred to as ciliopathies. It was, however, a line of questioning she planned to leave to other scientists, content to continue her methodical work exploring mutations in mice.

Many scientists are very quiet people, but contemporary society requires you to be very loud [so] that people will listen to you, Omelchenko says. Kathryn is such a great example of being quiet, being a very deep thinker, and at the same time becoming a very successful and bright scientist. I think I will keep learning from her even though she has passed away.

Anderson is survived by her husband, Timothy Bestor, a geneticist at Columbia University.

Read this article:
Developmental Biologist Kathryn Anderson Dies at 68 - The Scientist

CNBC in September (but I just saw this today): "One of the developers in the lead for a vaccine to prevent Covid-19, is slowing enrollment slightly in its large clinical trial to ensure it has sufficient representation of minorities most at risk for the disease, its chief executive said."

This is particularly egregious because apparently Moderna felt the need to ensure sufficient representation of Hispanic Americans. Even if you buy the dubious notion that there is a significant chance that vaccines will have significantly different effects by "race," what race are Hispanics supposed to be, exactly? The average American Hispanic is about 3/4 European by descent, based on DNA studies. Essentially, then, Moderna allowed tens of thousands of people to die to ensure that "enough" white people who happen to have Spanish-speaking ancestors were included.

Like many stupidities, the very unscientific focus in biomedical research on having subjects that match official American racial categories is the product of government policy. [ADDED: To be more explicit, Moderna was following FDA rules mandating that the clinical trials have diverse subjects, with diversity based on the scientifically arbitrary racial and ethnic classifications established by the Office of Management and Budget in 1977 for civil rights enforcement purposes. At the time, the OMB warned that the "classifications should not be interpreted as being scientific or anthropological in nature." This did not stop the FDA (and NIH) from institutionalizing them into medical and scientific research. That said, Moderna likely went beyond the minimum that the FDA would accept to avoid outrage from those who insist on something like proportional representation.]

Even if, unlike me, you believe in "race" as a biological concept likely to have significant medical consequences, our American civil rights/affirmative action categories don't make any sense in that regard For example, we put Caucasian people from India in the same "racial" category as East Asians such as Chinese and Austronesians such as Filipinos. Indians and most Filipinos are not genetically close to East Asians, but are 40% of the "Asian American" population. When medical statistics are reported about "Asian Americans," we have no idea how things broke down among Indians, Chinese, Filipinos, and other groups, or even whether and to what extent the different groups were represented.

A chapter of my in-progress book on American racial classification (preview here) will discuss this in detail, but a shorter version can be found here. [BTW, if we have any readers with relevant medical/scientific expertise who would be interested in "peer reviewing" my chapter, please let me know.]

Serious question: Why did I only hear about this today? Why wasn't there mass outrage when this was reported in September?

[cross-posted on Instapundit]

UPDATE: Some readers have questioned where I got the notion that American Hispanics are, on average, mostly European in origin. The answer is from this study, published in the American Journal of Human Genetics: "On average, we estimate that Latinos in the US carry 18.0% Native American ancestry, 65.1% European ancestry, and 6.2% African ancestry." That's a bit off from the 3/4 I cited but:

(a) those figures add up to only 90%, the rest is assumedly unknown, so if you add 10% or so to each, you get up to 71.5%. Maybe it's a bit lower, maybe a bit higher. And

(b) then you have to consider the fact that the study uses the "Latino" category, whereas I (and FDA-approved studies like Moderna's) use "Hispanic." Hispanic Americans include non-Latinos whose ancestors (or themselves) immigrated from Spain, and who are 100% or so European in origin. Plus, you have self-described "Hispanos," Americans in the Southwest descended from Mexicans who lived in the territories conquered by the US in 1848. Their origins are overwhelmingly Spanish, and they generally don't consider themselves Latinos, but would likely identify themselves as "Hispanic." So between Spanish immigrants and their descendants and Hispanos add a percentage point or two, and you get that the average self-identified Hispanic American is "about 3/4" European by descent. If someone is aware of alternative estimates published in scientific journals, please let me know.

Read the original:
"Diversity" Nonsense Cost Tens of Thousands of Lives - Reason

Every week there are numerous scientific studies published. Heres a look at some of the more interesting ones.

Antibodies Respond Differently to Severe Versus Mild COVID-19

Researchers at Stanford Medicine found that COVID-19 antibodies preferentially target different parts of the SARS-CoV-2 virus in mild COVID-19 cases than they do in severe cases. In addition, they fade differently based on the severity of the case. People with severe COVID-19 have low proportions of antibodies that target the spike protein. In milder cases, the antibodies seem to do a better job of binding to the spike protein. The spike protein binds to the ACE2 receptor on human cells, which allows the virus to enter the cell. Once inside, the virus gets rid of its outer coat, takes over the cells protein-making machinery and churns out more viral particles that then infect other cells. Antibodies that bind to the spike protein block the ability to bind to ACE2. Antibodies that bind to other parts of the virus dont seem to prevent viral spread.

Antibody responses are not likely to be the sole determinant of someones outcome, said Scott Boyd, associate professor of pathology at Stanford. Among people with severe disease, some die and some recover. Some of these patients mount a vigorous immune response, and others have a more moderate response. So, there are a lot of other things going on. There are also other branches of the immune system involved. Its important to note that our results identify correlations but dont prove causation.

Understanding Brain Plasticity in Adults

When brains develop, they constantly grow new neuronal connectionssynapsesas they learn and remember. Important connects are nurtured and reinforced while seemingly unnecessary ones are pruned. Adult brains undergo similar treatment, but its not well understood why adult synapses are eliminated. A group of researchers at The Korean Advanced Institute of Science and Technology (KAIST) have found the underlying mechanism of plasticity, which could be related to neurological disorders in adult brains. The brains gray matter contains microglia and astrocytes. Microglia are a frontline immune defensethey eat pathogens and dead cells. Astrocytes are star-shaped cells that help structure the brain and maintain homeostasis with involvement in neuronal signaling. It was long thought that microglial eat synapses as part of their clean-up effort, a process called phagocytosis. But their research, using a new molecular sensor, found that it was actually the astrocytes that are constantly eliminating excessive and unnecessary adult excitatory synaptic connections.

New Class of Antibiotic Works Against Range of Bacteria

Investigators with the Wistar Institute have identified a new class of antibiotics that have a broad range of antibacterial effects, including against microbes with antimicrobial resistance (AMR). They focused on a metabolic pathway essential for bacteria but absent in humans, called methyl-D-erythritol phosphate (MEP) or non-mevalonate pathway, which is responsible for biosynthesis of isoprenoids. Isoprenoids are required for cell survival in most pathogenic bacteria. The researchers targeted the IspH enzyme, essential in isoprenoid biosynthesis. They screened several million commercially available compounds using computer models to find ones that could bind with the enzyme and chose the most potent ones. Most IspH inhibitors cant penetrate the bacterial cell wall, so the researchers worked to identify and synthesize novel IspH inhibitors that could get inside the bacteria.

Rhesus Macaque Genome Reference Includes 85 Million Genetic Variants

Researchers at Baylor College of Medicine, the University of Missouri and the University of Washington created a new reference genome assembly, identifying more than 85 million genetic variants in the rhesus macaque. This makes it the largest database of genetic variation for any single nonhuman primate species. It is a big improvement over the first reference assembled in 2007, and they believe it can help analyze and answer fundamental questions in molecular genetics, cell biology and physiology, not just in rhesus macaques, but in humans and other primates and mammals.

This is a major step forward in the amount of information we have about genetic variation in the rhesus macaque, said Jeffrey Rogers, associate professor at the Human Genome Sequencing Center and Department of Molecular and Human Genetics at Baylor. We have actually identified thousands of new mutations in the population of research animals. Now colleagues all over the country who are investigating various aspects of health and disease using rhesus macaques can begin to make use of that information.

Common Diabetes Drug Linked to Rare COVID-19 Complications

Although diabetes is a known risk factor for COVID-19, researchers with Brigham and Womens Hospital have identified a rare COVID-19 complication with common diabetes drugs. The side effect is called euDKA, or euglycemic diabetic ketoacidosis. DKA occurs when the bodys cells do not absorb enough glucose and begin metabolizing fats instead, which results in a build-up of ketones. EuDKA is marked by lower blood sugar levels, making it harder to diagnose. The researchers evaluated five unusual euDKA cases that was a significantly higher level of incidence, all seen in COVID-19 patients taking sodium-glucose cotransporter 2 inhibitors (SLGLT2i). They believe that COVID-19 may increase the risk of euDKA by binding to cells on the pancreas that produce insulin. The three SGLT2 inhibitors approved by the FDA are Janssens Invokana (canagliflozin), AstraZenecas Farxiga (dapagliflozin) and Eli Lilly and Boehringer Ingelheims Jardiance (empagliflozin).

Whats Going on in the International Space Station?

The Expedition 64 crew took the day off for Christmas, but immediately afterwards went back to work on a variety of biological and medical research. Two studies evaluated new treatments for joint injuries and cancerone looked at bone, cartilage and synovium in artificial gravity chambers to better understand bone loss and joint damage; the second studied protein crystals grown in space and their ability to target cancer cells. A different study on several dozen mice evaluated the vascular changes in space on eyesight functionabout 40% of people working in space have vision changes from fluid shifts and radiation. Another experiment studied genetic changes in space and their impact on the growth and deterioration of bone tissue.

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Research Roundup: Different Antibody Responses to COVID-19 and More - BioSpace

Editor's note, 31 December 2020: This article was updated with additional recipients.

The work of more than a hundred health and social care workers during the COVID-19 pandemic has been recognised in this year's New Year Honours.

They include a British Empire Medal (BEM) for Cath Fitzsimmons from Greater Manchester, a former palliative care nurse who came out of retirement for COVID-19.

Also awarded a BEM was Dr Azeem Alam, a junior doctor at Guy's and St Thomas' NHS Foundation Trust, who founded BiteMedicine, providing free medical education for medical students during the pandemic.

An MBE went to Jacky Coping from Suffolk, a deputy director of nursing, who initiated Face Fit Testing at the James Paget University Hospitals NHS Foundation Trust to help ensure that frontline workers were properly protected against COVID-19.

Public sector workers, including medical professionals, make up 14.8% of the list mainly for the way they responded to the pandemic.

Prime Minister Boris Johnson said: "In a year when so many have made sacrifices to protect our NHS and save people's lives, the outstanding efforts of those receiving honours today are a welcome reminder of the strength of human spirit, and of what can be achieved through courage and compassion."

Prof Paul Cosford was knighted for services to public health. Prof Cosford was lately emeritus medical director for Public Health England (PHE).

He joined PHE in 2012 after leading the national and local delivery of health protection services within the Health Protection Agency.

Among others to be honoured who'll receiveMBEs were:

Captain Emma Henderson, from Moray in Scotland, for founding Project Wingman, creating a 'first class' lounge experience in hospitals in the UK for NHS workers

Dr Fiona Dempsey, consultant in intensive care medicine and anaesthesia, Somerset NHS Foundation Trust forservices to the NHS

Dr Thomas Best, clinical director critical care, King's College Hospital NHS Foundation Trust for services to critical care, particularly during COVID-19

Professor Tamas Szakmany, critical care consultant, Royal Gwent Hospital forservices to the NHS during COVID-19

Other health and social care professionals have been honoured with OBEs.

Prof Partha Kar, a consultant and endocrinologist at Portsmouth Hospitals NHS Trust, was honoured with an OBE for services to people with diabetes, and told Medscape News UK he was "humbled and grateful for all the love and support I have received from those living with diabetes".

Prof Kar, a national specialist adviser on diabetes care for NHS England, pioneered the use of continuous glucose monitoring devices in the NHS.

He added that it had been "a long way from growing up in Kolkata, India, to having one of the highest honours in the UK".

Among other OBE recipients were:

Prof Wendy Bickmore, director of the Medical Research Council's Human Genetics Unit at the University of Edinburgh

Prof Wendy Burn, president of the Royal College of Psychiatrists

Prof Ian Finlay, consultant surgeon at Glasgow Royal Infirmary

Usha Goswami, professor of cognitive developmental neuroscience at the University of Cambridge

Anthony Campbell, honorary research professor at Cardiff University

Robert Champion, founder of the prostate cancer charity, Bob Champion Cancer Trust

Dr Shikandhini Kanagasundrem, director, infection prevention and control and consultant microbiologist at the Princess Alexandra Hospital NHS Trust

Harjinder Kaur Kandola, chief executive, Barnet, Enfield and Haringey Mental Health NHS Trust, for services to mental health, particularly during the COVID-19 response

Francesca Gabrielle Happe, professor of cognitive neuroscience at King's College London, for services to the study of autism

Dr Timothy Ho, medical director at Frimley Health NHS Foundation Trust, for services to the NHS during COVID-19

Stephen Holmes, service director for adult social care at Northumberland County Council for services during the pandemic

Dr Gareth Hynes, specialty registrar at Oxford University Hospitals NHS Foundation Trust, for services to medical education during COVID-19

Dr Michael Paul Weekes, infectious diseases clinician at Cambridge University Hospitals NHS Foundation Trust

Michelle Johnson, chief nurse at the Whittington Health NHS Trust, for services to nursing, particularly during the pandemic

Sara Jane Robertson, matron at the Neonatal Intensive Care Unit at Ashford and St Peter's Hospitals NHS Foundation Trust, for services to nursing during COVID-19

Ramani Moonesinghe, professor of perioperative medicine and consultant anaesthetist, University College London for services to anaesthesia, perioperative, and critical care

Paul Charles Tunstell, associate chief pharmacist at Guy's and St Thomas' NHS Foundation Trust for services during the COVID-19 pandemic

Professor ChrisMoran,National Clinical Director for Trauma, NHS England and NHS Improvementforservices to trauma surgery

"As we begin a new year and continue to come together to fight this virus, may their service and stories be an inspiration to us all," Mr Johnson commented.

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Health and Social Care Professionals Recognised in New Year Honours - Medscape