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Archive for the ‘Genetics’ Category

Global Genetic Testing Market Forecasts for Applications and Technologies 2020-2024, Updated in Light of Impact of COVID-19 Pandemic -…

Saturday, June 13th, 2020

The "Genetic Testing. Global Market Forecasts for Applications and Technologies. Updated for COVID-19 Pandemic impact with Executive and Consultant Guides 2020 to 2024" report has been added to ResearchAndMarkets.com's offering.

This report explores how the large genetic testing cancer segment has been impacted by COVID-19. Genetic Blizzard is creating a confusing array of new tests. Will all newborns receive Whole Genomic Sequencing at birth? What has happened to Direct to Consumer?

The role of genetics in health and disease is just now being understood. This new knowledge, combined with lower pricing is driving the Genetic Testing industry to record growth. New drugs may only work for people with a certain genetic makeup, and this too is driving the Genetic Testing Industry. The traditional genetic testing market is growing in volume and growing in the breadth of tests creating a new life for the industry. The report forecasts the market size out to 2024. The report includes detailed breakouts for 14 countries and 5 regions.

Predictive Diagnostics? Pharmacogenomic Testing? Direct to Consumer? Find out about the technology in readily understood terms that explain the jargon. What are the issues? Find the opportunities and pitfalls. Understand growth expectations and the ultimate market forecasts for the next five years.

Key Topics Covered:

1. Introduction and Market Definition

1.1 Genetic Testing Definition in This Report

1.2 The Genomics Revolution

1.3 Market Definition

1.4 U.S. Medical Market and laboratory Testing - Perspective

2. Market Overview

2.1 Market Participants Play Different Roles

2.2 Genetic Tests -Types, Examples and Discussion

2.3 Industry Structure

2.4 Market Shares of Key Genetics Players - Analysis

3. Market Trends

3.1 Factors Driving Growth

3.2 Factors Limiting Growth

3.3 Instrumentation and Automation

3.4 Diagnostic Technology Development

4. Genetic Testing Recent Developments

5. Profiles of Key Companies

6. Global Market Size

6.1 Global Market by Country

6.2 Global Market by Application

6.3 Global Market by Technology

7. Market Sizes by Application

7.1 Newborn Testing Market

7.2 NIPT Market

7.3 Predictive Testing Market

7.4 Oncology Testing Market

7.5 DTC Testing Market

7.6 Other Testing Market

8. Global Genetic Testing Market by Technology

9. The Future of Genetic Testing

For more information about this report visit https://www.researchandmarkets.com/r/jp4uin

About ResearchAndMarkets.com

ResearchAndMarkets.com is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200610005299/en/

Contacts

ResearchAndMarkets.comLaura Wood, Senior Press Managerpress@researchandmarkets.com For E.S.T Office Hours Call 1-917-300-0470For U.S./CAN Toll Free Call 1-800-526-8630For GMT Office Hours Call +353-1-416-8900

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Global Genetic Testing Market Forecasts for Applications and Technologies 2020-2024, Updated in Light of Impact of COVID-19 Pandemic -...

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International Albinism Awareness Day celebrates those with rare genetic condition – Down To Earth Magazine

Saturday, June 13th, 2020

Made To Shine the chosen theme for this years International Albinism Awareness Day celebrates the achievements of those who have albinism

International Albinism Awareness Day is observed every year on June 13 to highlight the rights of those born with albinism and increase awareness of the genetic condition. The theme gains significance this year since the novel coronavirus disease (COVID-19) pandemic has resulted in the spread of misinformation against those who have albinism.

The physical appearance of those with albinism is often conflated with erroneous beliefs and myths influenced by superstition, something that furthers marginalisation and social exclusion, leading to stigma and discrimination.

In some countries, those with the genetic condition have been stigmatised and accused for spreading COVID-19, something that does not have a basis in scientific fact.

Killings, attacks, bullying and discrimination continue against people with albinism.

This day, hence, serves as a reminder that people with albinism continue to defy odds, overcome hurdles and face injustice with resilience.

Made To Shine the chosen theme for this years International Albinism Awareness Day celebrates the achievements and successes of individuals with albinism worldwide.

It is also a call for solidarity with those who have albinism and the challenges they face.

Albinism a rare disease, according to the National Institutes of Health is characterised by a lack of melanin pigment in skin, hair and eyes. Those with albinism are vulnerable to sun exposure, something that increases chances of skin cancer and severe visual impairment.

An albino crocodile in Odisha's Bhitarkanika National Park Photo: Ashis Senapati

The condition is still not fully understood, socially or medically. Both parents must carry the gene for their child to have the condition.

Even though the parents carry the gene, they may not show any physical signs of the condition, said Sudhashree Pattanaik, a noted dermatologist from Odisha.

One out of every 17,000 people across the world have albinism. Africa and Europe have the greatest number of those with albinism.

In India, there are around 200,000 who have albinism. The Union government is yet to conduct a census to account for those who have albinism, said Amarbara Biswal, a human rights activist.

In 2013, the United Nations Human Rights Council adopted a resolution that called for the prevention of discrimination against individuals with albinism.

The UN General Assembly proclaimed June 13 to be International Albinism Awareness Day on December 18, 2014, with it being observed for the first time in 2015.

Widespread among animals

An albino turtle at Rushikulya beach in Odishas Ganjam district Photo: Ashis Senapati

Albinism is widespread among animals as well and is caused by the absence of melanin in their bodies, said Sudhakar Kar, a noted herpetologist and former wildlife researcher in Odishas forest and wildlife department.

A baby albino crocodile was found in Odishas Bhitarkanika National Park in 1975. After her birth, forest officials kept the reptile in a pond at a crocodile rearing centre within the park.

The female baby crocodile was named gori (white) because of its colour. In 2012, forest officials discovered another albino crocodile in Bhitarkanika and kept the reptile in a pen as well, according to Kar.

An albino Olive Ridley turtle laid eggs during arribada (mass nesting) at Rushikulya beach in Odishas Ganjam district in March this year, said Basudev Tripathy, a noted turtle researcher and Deputy Director of the Zoological Survey of India. Albino sea turtles are extremely rare, he added.

Rabindranath Sahu the secretary of the Rushukulya Sea Turtle Protection Committee discovered the albino turtle, according to him.

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International Albinism Awareness Day celebrates those with rare genetic condition - Down To Earth Magazine

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COVID-19 Genetic PCR Tests Give False Negative Results if Used Too Early – Diagnostic and Interventional Cardiology

Saturday, June 13th, 2020

June 10, 2020 In a new study, Johns Hopkins researchers found that testing people for SARS-CoV-2 (COVID-19) too early in the course of infection is likely to result in a false negative test, even though they may eventually test positive for the virus.[1] This is important to understand since many hospitals are using these COVID tests to screen patients before imaging exams, diagnostic testing or procedures.

The report found even a week after infection, one in five people who had the virus had a negative test result. The findings was published in the May 13 issue of Annals of Internal Medicine.

A negative test, whether or not a person has symptoms, doesnt guarantee that they arent infected by the virus, said Lauren Kucirka, M.D., Ph.D., M.Sc., obstetrics and gynecology resident at Johns Hopkins Medicine. How we respond to, and interpret, a negative test is very important because we place others at risk when we assume the test is perfect. However, those infected with the virus are still able to potentially spread the virus.

Kucirka said patients who have a high-risk exposure should be treated as if they are infected, particularly if they have symptoms consistent with COVID-19. This means communicating with patients about the tests shortcomings. One of several ways to assess for the presence of SARS-CoV-2 infection is a method called reverse transcriptase polymerase chain reaction (RT-PCR). These tests rapidly make copies of and detect the viruss genetic material. However, as shown in tests for other viruses such as influenza, if a swab misses collecting cells infected with the virus, or if virus levels are very low early during the infection, some RT-PCR tests can produce negative results. Since the tests return relatively rapid results, they have been widely used among high-risk populations such as nursing home residents, hospitalized patients and healthcare workers. Previous studies have shown or suggested false negatives in these populations.

For the new analysis, Johns Hopkins Medicine researchers reviewed RT-PCR test data from seven prior studies, including two preprints and five peer-reviewed articles. The studies covered a combined total of 1,330 respiratory swab samples from a variety of subjects including hospitalized patients and those identified via contact tracing in an outpatient setting.

Using RT-PCR test results, along with reported time of exposure to the virus or time of onset of measurable symptoms such as fever, cough and breathing problems, the researchers calculated the probability that someone infected with SARS-CoV-2 would have a negative test result when they had the virus infection. In the published studies, healthcare providers collected nasal and throat samples from patients and noted the time of virus exposure or symptom onset and sample collection.

From this data, the Johns Hopkins researchers calculated daily false-negative rates, and have made their statistical code and data publicly available so results can be updated as more data are published.

The researchers estimated that those tested with SARS-CoV-2 in the four days after infection were 67 percent more likely to test negative, even if they had the virus. When the average patient began displaying symptoms of the virus, the false-negative rate was 38 percent. The test performed best eight days after infection (on average, three days after symptom onset), but even then had a false negative rate of 20 percent, meaning one in five people who had the virus had a negative test result.

We are using these tests to rule out COVID-19, and basing decisions about what steps we take to prevent onward transmission, such as selection of personal protective equipment for healthcare workers, Kucirka explained. As we develop strategies to reopen services, businesses and other venues that rely on testing and contact tracing, it is important to understand the limitations of these tests.

Ongoing efforts to improve tests and better understand their performance in a variety of contexts will be critical as more people are infected with the virus and more testing is required. The sooner people can be accurately tested and isolated from others, the better we can control the spread of the virus, the researchers said.

Another John Hopkins study in March found the average incubation period for COVID-19 was approximately five days.[2] This was originally used as a guide by some in developing quarantine guidelines. However, this new study shows that test COVID PCR test results are not reliable for a firm diagnosis until well after a week of infection.

Additional authors include Denali Boon, Stephen Lauer, Oliver Layendecker and Justin Lessler and of Johns Hopkins.

Funding for the study was provided by the National Institute of Allergy and Infectious Diseases (R01AI135115 and T32DA007292), the Johns Hopkins Health System and the U.S. Centers for Disease Control and Prevention (NU2GGH002000).

Reference:

1. Lauren M. Kucirka, Stephen A. Lauer, Oliver Laeyendecker, et al. Variation in False-Negative Rate of Reverse Transcriptase Polymerase Chain ReactionBased SARS-CoV-2 Tests by Time Since Exposure. Annuals of Internal Medicine. May 13, 2020. doi.org/10.7326/M20-1495.

2. Stephen A. Lauer, Kyra H. Grantz, Qifang Bi, et al. The Incubation Period of Coronavirus Disease 2019 (COVID-19) From Publicly Reported Confirmed Cases: Estimation and Application. Ann Intern Med. 2020 Mar 10 : M20-0504. Published online 2020 Mar 10. doi: 10.7326/M20-0504.

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COVID-19 Genetic PCR Tests Give False Negative Results if Used Too Early - Diagnostic and Interventional Cardiology

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Blood type might boost immunity to COVID-19, genetic website says – SILive.com

Saturday, June 13th, 2020

STATEN ISLAND, N.Y. -- An "O" blood type could provide some level of immunity against the coronavirus (COVID-19), according to a study by the genetic website 23andMe.

Preliminary information from more than 750,000 participants in the study suggests that the "O" blood type appears to be protective against the virus when compared to all other blood types, according to a blog on the genetic website.

Comparing the research participants who reported that they tested positive for COVID-19 to those who tested negative, our researchers identified a variant in the ABO gene associated with a lower risk, according to the genetic website.

People with that blood type could be 9-to-18% less likely to test positive for COVID-19, according to the genetic website.

Among healthcare workers and others repeatedly exposed to the virus, "O" blood type is similarly protective, but the proportion of cases within strata is higher, according to 23andMe.

Whether the "O" blood is positive or negative is not a significant factor in immunity or severity of illness for those who become infected, according to the genetic website.

The genetic website referenced some similar results from other studies in China, Italy and Spain.

Numerous other studies have reported that the ABO blood group plays a role in both susceptibility and severity for COVID-19 (refs: 1, 2, 3), the genetic website said. And we know from other studies that the ABO blood group can play a direct role in other types of infections by serving as receptors, or co-receptors for microorganisms, parasites, and viruses. The preliminary findings from 23andMes data are also notable because of the link between COVID-19 blood clotting, and cardiovascular disease.

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Blood type might boost immunity to COVID-19, genetic website says - SILive.com

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Researchers uncover the arks of genetic diversity in terrestrial mammals – Jill Lopez

Saturday, June 13th, 2020

Maximizing the protection of life on Earth requires knowledge of the global patterns of biodiversity at multiple dimensions, from genetic diversity within species, to species and ecosystem diversity. Yet, the lack of genetic sequences with geographic information at global scale has so far hindered our ability to map genetic diversity, an important, but hard to detect, biodiversity dimension.

In a new study, researchers from the Universities of Copenhagen and Adelaide have collected and georeferenced a massive amount of genetic data for terrestrial mammals and evaluated long-standing theories that could explain the global distribution of genetic diversity. They found that regions of the world rich in deep evolutionary history, such as Northern Andes, the Eastern Arc Mountains, Amazonia, the Brazilian Atlantic forest, the central America jungles, sub-Saharan Africa and south-eastern Asia are also strongholds of genetic diversity. They also show that the relatively stable climate in these regions during the past 21'000 years contributes significantly to this intraspecific richness.

"Genetic diversity within species is a critical component of biodiversity, playing two important roles at the same time. It reflects species evolutionary history and defines their capacity to adapt under future environmental change. However, and despite the predictions of major biodiversity theories, the actual global distribution of genetic diversity remained, so far, a mystery. Recent collective efforts to populate public databases with genetic sequences and their localities allowed us to evaluate these theories and generate the first global maps of genetic diversity in terrestrial mammal assemblages", says Spyros Theodoridis, Postdoctoral Researcher at the Center for Macroecology, Evolution and Climate, GLOBE Institute, and lead author of the study.

"The tropics, and more specifically tropical mountain regions, host large amounts of the global pool of genetic diversity. These arks of biodiversity are under a high pressure today due to climate and land-use change. The conservation of genetic diversity in these areas should be a priority in on-going conservation efforts", says David Nogues-Bravo, the senior author of the study and Associate Professor at the University of Copenhagen.

The study also evaluated the effects of climate change during the last 21'000 years in shaping current patterns of genetic diversity. Regions of the world that experienced less severe change in temperature and precipitation harbor higher levels of genetic diversity, potentially due to reduced population extinctions. It also suggests that past inter-annual precipitation variability contributes to higher genetic diversity possibly through population adaptive divergence.

"While we show that areas of high genetic diversity tend to occur in regions where climates have remained relatively unchanged during past periods of global-scale climate change, many of these regions are forecast to experience major climate disturbances in the near future. Unfortunately, this is likely to lead to a loss of genetic diversity in many biodiversity hotspots", says Damien Fordham, Associate Professor at The University of Adelaide's Environment Institute and a coauthor of the study.

"The identified correlations of genetic diversity with evolutionary history and past climate change allowed us to develop predictive models at global scale, particularly in regions that lack sufficient data, such as the tropics. These predictions constitute a first step towards filling major gaps of knowledge for genetic diversity, and can inform and be further validated by field-work campaigns in data-poor regions of the Earth", says Carsten Rahbek, head of the Center for Macroecology, Evolution and Climate.

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Researchers uncover the arks of genetic diversity in terrestrial mammals - Jill Lopez

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UK was inundated by new coronavirus cases from abroad, genetic analysis reveals – ITV News

Saturday, June 13th, 2020

Forget the UK's "patient zero", new cases of coronavirus were pouring into the country by the hundreds each week during March, helping to explain why our outbreak grew so large so quickly, new analysis of virus genomes reveals.

The study also finds the vast majority of cases arrived in the UK from mainland Europe at a time when much of our travel advice was focused on Asia.

The finding reinforces the conclusion of leading scientists like Professor Neil Ferguson on Wednesday that many lives could have been saved if the lockdown had happened sooner.

Scientists from the UK - Coronavirus Genomics Consortium - have been collecting the genetic sequences of more than 25,000 virus samples from UK cases of the virus.

Because the virus makes copying errors in its genetic code as it reproduces, it slowly mutates as time passes.

They used the changes in the virus genome to build a family tree of the SARS-CoV-2 virus from its origin in China to more than 7,000,000 confirmed human cases worldwide.

"The coronavirus evolves at around two-and-a-half mistakes a month and over the period of an outbreak that results in many different genomes of many different types being detectable," says Nick Loman, Professor of microbial genomics at the University of Birmingham and a member of the UK-COG.

They used their data on the virus' family trees, combined with data on travel patterns to the UK at the time to map where new cases of Covid-19 were coming from.

The majority (34%) came from Spain, a similar number (28%) from France, 14% from Italy, although these cases made up the bulk of early infections in February and 23% from other countries.

The bulk of cases - more than 80% - arrived in the UK between February 28 and March 29.

The UK implemented lockdown on March 23.

On Wednesday, Prof Ferguson told a committee of MPs "had we introduced lockdown measures a week earlier, we would have reduced the final death toll by at least a half".

The data also shows that while major public gatherings like football matches and the Cheltenham festival could have been important for spreading the virus, so many people were brining the virus into the country at the time, these events alone weren't significant drivers of our outbreak.

The study also found, that as our outbreak grew, the UK itself became a source of spread elsewhere.

It reveals the majority of cases contributing to Iceland's outbreak originated in the UK.

But the real benefit of sequencing Covid-19 genomes could be yet to come.

Now the numbers of infections has declined, its possible to use the virus' family tree to better trace and track new infections based on how related they are to one another.

"It's a very powerful tool," says Prof Loman.

"This allows us to look backwards and say, were all these cases at a particular gathering, is there an association with travel."

Coronavirus: Everything you need to know

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UK was inundated by new coronavirus cases from abroad, genetic analysis reveals - ITV News

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Scots parents’ heartache as baby with rare genetic condition will not live long enough to go to school – Daily Record

Saturday, June 13th, 2020

His bright, blue eyes shine with happiness but behind his smile lies heartache for little Rowan Packers parents.

For the one-year-old tot will not survive long enough to even go to school.

Little Rowan has a rare condition called Tay-Sachs Disease, a genetic condition which causes progressive damage to the nervous system.

It affects just one in 320,000 babies although it is more common within the Ashkenazi Jewish population of Eastern Europe where one in 3500 babies are born with it.

The family do not think there are Ashkenazi antecedents on either side and Rowans brother and sister Aaron, seven, and Gracie, five, do not have the condition.

Mum Deborah McDonald, 26, and delivery driver dad Aaron Packer, 25, had never even heard of the condition before Rowan was diagnosed.

Deborah, who trained as a nurse for a time, said: Id heard about other genetic conditions but never this one. It was an absolute shock.

Student Deborah, studying for an honours degree in integrated health and social care, had a normal pregnancy with Rowan. With her other two pregnancies she suffered life-threatening pre-eclampsia and they were born nine weeks early.

But Rowan wasnt born until 39 weeks.

However, Deborah, who has the immune disease lupus which can cause damage to organs and as well as causing miscarriages, had always felt there was something very different about the pregnancy because Rowan hardly moved.

But she said: He looked absolutely perfect when he was born and all the routine tests came back fine.

He weighed 5lb 15oz the biggest of all the couples babies, with Aaron only 3lb 3oz and Gracie a tiny 2lb 14oz.

She said: He was maybe about four months when we realised he wasnt trying to turn over. We were doing exercises on the mat with him but he didnt have the urge to do it.

His eyesight was always a bit strange. He never focused on a person or an object.

Rowan wasnt progressing like a normal child at all.

He had a string of tests but when a cherry dot was spotted on the retina during eyetest it pretty much confirmed the diagnosis.

Deborah said: It is just mad. This thing can be in families for years and years but the chances of meeting a partner who also has the gene are quite slim, particularly in somewhere the size of Scotland.

We only know of one other child in Scotland with it, a little boy in Aberdeen, and his mum has been helping me with answers and advice. He is maybe three or four and is unresponsive.

It is hard knowing no matter what you do, Rowan will not survive. If it was cancer there may have been a chance but there is nothing that can be done for him.

Rowan, who turned one on May 24, can only eat pureed food and his movement is just like a newborn.

Deborah said: He can smile and laugh. But that will go. He will never be able to sit unaided or roll over and he cant put any pressure on his feet.

If he is not lying down, he is in his chair if we are not lifting him. His wee muscles just dont work and anything that he can do just now will be lost. Even any automatic responses will go away.

At the end, he will be completely unaware of anything. The body just stops functioning.

The couple are desperate to move to a bigger home. At the moment they are in a two-bed private let in Mosspark, Glasgow, as they wait for a Glasgow Housing Association medical property to become available.

The family need a bigger house so Rowan can have a proper hospital bed and a hoist for when he grows too big for his mum to carry.

Deborah said: We have been bidding for medical properties but we have lost out to people who have been on the list longer.

GHA said they are doing all they can to help the Packers find a home that suits their needs.

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Scots parents' heartache as baby with rare genetic condition will not live long enough to go to school - Daily Record

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Direct-to-consumer Disease Risk and Health Genetic Test Market Growth Prospects, Revenue, Key Vendors, Growth Rate and Forecast To 2026 – Jewish Life…

Saturday, June 13th, 2020

Direct-to-consumer Disease Risk and Health Genetic Test Market Overview

The Direct-to-consumer Disease Risk and Health Genetic Test market report presents a detailed evaluation of the market. The report focuses on providing a holistic overview with a forecast period of the report extending from 2018 to 2026. The Direct-to-consumer Disease Risk and Health Genetic Test market report includes analysis in terms of both quantitative and qualitative data, taking into factors such as Product pricing, Product penetration, Country GDP, movement of parent market & child markets, End application industries, etc. The report is defined by bifurcating various parts of the market into segments which provide an understanding of different aspects of the market.

The overall report is divided into the following primary sections: segments, market outlook, competitive landscape and company profiles. The segments cover various aspects of the market, from the trends that are affecting the market to major market players, in turn providing a well-rounded assessment of the market. In terms of the market outlook section, the report provides a study of the major market dynamics that are playing a substantial role in the market. The market outlook section is further categorized into sections; drivers, restraints, opportunities and challenges. The drivers and restraints cover the internal factors of the market whereas opportunities and challenges are the external factors that are affecting the market. The market outlook section also comprises Porters Five Forces analysis (which explains buyers bargaining power, suppliers bargaining power, threat of new entrants, threat of substitutes, and degree of competition in the Direct-to-consumer Disease Risk and Health Genetic Test) in addition to the market dynamics.

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Leading Direct-to-consumer Disease Risk and Health Genetic Test manufacturers/companies operating at both regional and global levels:

Direct-to-consumer Disease Risk and Health Genetic Test Market Scope Of The Report

This report offers past, present as well as future analysis and estimates for the Direct-to-consumer Disease Risk and Health Genetic Test market. The market estimates that are provided in the report are calculated through an exhaustive research methodology. The research methodology that is adopted involves multiple channels of research, chiefly primary interviews, secondary research and subject matter expert advice. The market estimates are calculated on the basis of the degree of impact of the current market dynamics along with various economic, social and political factors on the Direct-to-consumer Disease Risk and Health Genetic Test market. Both positive as well as negative changes to the market are taken into consideration for the market estimates.

Direct-to-consumer Disease Risk and Health Genetic Test Market Competitive Landscape & Company Profiles

The competitive landscape and company profile chapters of the market report are dedicated to the major players in the Direct-to-consumer Disease Risk and Health Genetic Test market. An evaluation of these market players through their product benchmarking, key developments and financial statements sheds a light into the overall market evaluation. The company profile section also includes a SWOT analysis (top three companies) of these players. In addition, the companies that are provided in this section can be customized according to the clients requirements.

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Direct-to-consumer Disease Risk and Health Genetic Test Market Research Methodology

The research methodology adopted for the analysis of the market involves the consolidation of various research considerations such as subject matter expert advice, primary and secondary research. Primary research involves the extraction of information through various aspects such as numerous telephonic interviews, industry experts, questionnaires and in some cases face-to-face interactions. Primary interviews are usually carried out on a continuous basis with industry experts in order to acquire a topical understanding of the market as well as to be able to substantiate the existing analysis of the data.

Subject matter expertise involves the validation of the key research findings that were attained from primary and secondary research. The subject matter experts that are consulted have extensive experience in the market research industry and the specific requirements of the clients are reviewed by the experts to check for completion of the market study. Secondary research used for the Direct-to-consumer Disease Risk and Health Genetic Test market report includes sources such as press releases, company annual reports, and research papers that are related to the industry. Other sources can include government websites, industry magazines and associations for gathering more meticulous data. These multiple channels of research help to find as well as substantiate research findings.

Table of Content

1 Introduction of Direct-to-consumer Disease Risk and Health Genetic Test Market

1.1 Overview of the Market1.2 Scope of Report1.3 Assumptions

2 Executive Summary

3 Research Methodology of Verified Market Research

3.1 Data Mining3.2 Validation3.3 Primary Interviews3.4 List of Data Sources

4 Direct-to-consumer Disease Risk and Health Genetic Test Market Outlook

4.1 Overview4.2 Market Dynamics4.2.1 Drivers4.2.2 Restraints4.2.3 Opportunities4.3 Porters Five Force Model4.4 Value Chain Analysis

5 Direct-to-consumer Disease Risk and Health Genetic Test Market, By Deployment Model

5.1 Overview

6 Direct-to-consumer Disease Risk and Health Genetic Test Market, By Solution

6.1 Overview

7 Direct-to-consumer Disease Risk and Health Genetic Test Market, By Vertical

7.1 Overview

8 Direct-to-consumer Disease Risk and Health Genetic Test Market, By Geography

8.1 Overview8.2 North America8.2.1 U.S.8.2.2 Canada8.2.3 Mexico8.3 Europe8.3.1 Germany8.3.2 U.K.8.3.3 France8.3.4 Rest of Europe8.4 Asia Pacific8.4.1 China8.4.2 Japan8.4.3 India8.4.4 Rest of Asia Pacific8.5 Rest of the World8.5.1 Latin America8.5.2 Middle East

9 Direct-to-consumer Disease Risk and Health Genetic Test Market Competitive Landscape

9.1 Overview9.2 Company Market Ranking9.3 Key Development Strategies

10 Company Profiles

10.1.1 Overview10.1.2 Financial Performance10.1.3 Product Outlook10.1.4 Key Developments

11 Appendix

11.1 Related Research

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We Werent Going To Give Up: Family Celebrates Progress Of 1-Year-Old With Rare Genetic Disorder – CBS Denver

Saturday, June 13th, 2020

DENVER (CBS4) A one-year-old girl is growing stronger after being diagnosed a rare genetic condition. Payton Calvillo was diagnosed with Hypophosphatasia, which can cause bones and teeth to be extremely weak. Her family was told before she was even born she likely wouldnt survive.

My boys had been asking for a baby sister for a long time, laughed Ahna Calvillo, Paytons mom. They were sure she was a girl.

When Ahna was pregnant with their third child, she and her husband Riley went to an ultrasound appointment, to find out their babys sex. They were told they were having a little girl, but things didnt look good.

She just was like, These babys bones, they are bent and they are fractured in some places, Ahna said, tearing up. We just had two healthy boys and that was the last thing I expected. Was there something to be wrong with our baby girl?

Ahna said they immediately saw a specialist to learn more about the babys condition. However, it was so rare, doctors had a tough time diagnosing what was wrong.

Along the journey there were a lot of different diagnoses because they really didnt know what we were dealing with, Ahna said.

Staff with Rocky Mountain Hospital for Children in Denver began to help the Calvillo family. Cathy Brunson is a genetic counselor at the hospital, and said this condition usually impacts adults or older children.

Its a condition that can affect definitely bones but also the teeth, Brunson said. This was the first time I had seen it prenatally, especially to this degree.

Based on studies around the world, often babies like Payton require significant support upon delivery and some children can experience additional skeletal malformations, breathing difficulty and diminished muscle tone.

Doctors told the Calvillo family, because the babys bones were so weak, she likely wouldnt make it through birth. Ahna said, they decided to continue to pregnancy and keep their faith.

We werent going to give up on Payton. Payton hadnt given up at that point and we werent going to give up on her, Ahna told CBS4s Makenzie OKeefe. We just started praying.

After weeks of ultrasounds, at 39 weeks Ahna had a C-section to bring Payton into the world. She said if she heard her little girl cry, she knew she made it through birth without her chest collapsing.

She started crying and only had some rib fractures but no broken bones, Ahna said. She was, she was a miracle.

When Payton was born, x-rays show her bones were extremely bowed. She began treatment when she was just 6 days old and at a 6-week follow-up with an orthopedic specialists at Rocky Mountain Hospital for Children, they found no new fractures and improvement in her bowing legs.

At 12 months of age, baby Payton is weight bearing and her development milestones are on track.

The tricky part now is she has this condition and now what are we going to do for her, for the rest of her life, Brunson said.

Ahna and Riley say, seeing Payton grow up and get stronger has been a joy.

Ive been so excited to see her do all the things, to crawl and to walk, Ahna said. And shes not a low-key baby. She loves to keep up with her brothers.

The Calvillo family said it was a tough road, but seeing all the families facing tough diagnoses at the hospital too, was heartbreaking. They hope their story of not giving up when they were told she wouldnt make it early on, gives others hope.

We just want to bring encouragement, Ahna said. Shes a miracle, and shes a joy.

Ahna was also recently diagnosed with the same genetic condition, and is waiting to be enrolled in a clinical trial to receive the same medication as her baby.

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When Cancer Cells Cant Make Their Own Fat, They Eat Whats Around Them – SciTechDaily

Saturday, June 13th, 2020

A switch in cancer fat metabolism from production to import could be exploited for therapy, researchers say. Credit: National Institutes of Healthy Public LIbrary

Cancer cells rewire their metabolism to compensate for a halt in fat production by importing more fat molecules from their environment.

Knowing what cancer will do next could lessen the likelihood of it becoming resistant to treatment. A new U of T study investigates how cancer adapts its metabolism to potentially overcome therapies still in development.

Several clinical trials have failed because metabolism is such an adaptive process by which cancer cells gain drug resistance, says Michael Aregger, a co-lead author and Research Associate working with Jason Moffat, Professor of molecular genetics in the Donnelly Centre for Cellular and Biomolecular Research, who co-led the work. If you know how cells are able to adapt to perturbations, maybe we can target them more specifically to avoid resistance from developing.

If you know how cells are able to adapt to perturbations, maybe we can target them more specifically to avoid resistance from developing Michael Aregger, Research Associate

The research was also led by Brenda Andrews and Charles Boone, University Professor and Professor of molecular genetics at the Donnelly Centre, respectively, and Chad Myers, a Professor of computer science at the University of Minnesota-Twin Cities.

The study, published this week in the journal Nature Metabolism, is the first to investigate global changes in cancerous cells as they adapt to a shortfall of critical nutrients such as fat molecules, or lipids, which make up the cells outer envelope.

When cancer cells are unable to make their own lipids, they gobble them up from their environment to ensure a steady supply of these essential building blocks, the study found. Lipids also serve as fuel and chemical signals for communication between cells, among other roles.

The switch in metabolism could be bad news for drugmakers seeking to target cancer by reducing its lipid reserves. In particular, drugs that inhibit an enzyme called FASN, for fatty acid synthase, involved in an early step of lipid synthesis, are being explored in patient trials. Fatty acids are precursors of larger lipid molecules and their production is increased in many cancers thanks to elevated FASN levels, which are also associated with poor patient prognosis.

The U of T study suggests that the effectiveness of FASN inhibitors could be short-lived owing to cancers ability to find another way to procure lipids.

Because FASN is upregulated in many cancers, fatty acid synthesis is one of the most promising metabolic pathways to target says Keith Lawson, a co-lead author and PhD student in Moffats lab enrolled in the Surgeon-Scientist Program at the Faculty of Medicine. Given that we know there is a lot of plasticity in metabolic processes, we wanted to identify and predict ways in which cancer cells can potentially overcome the inhibition of lipid synthesis.

To block fatty acid synthesis, the researchers employed a human cell line from which the FASN coding gene was removed. Using the genome editing tool CRISPR, they deleted from these cells all ~18,000 or so human genes, one by one, to find those that can compensate for the halt in lipid production. Such functional relationships are also referred to as genetic interactions.

Data analysis, performed by Maximilian Billmann, a co-lead author and a postdoctoral fellow in Myers lab at Minnesota-Twin Cities, revealed hundreds of genes that become essential when cells are starved of fat. Their protein products clustered into well-known metabolic pathways through which cells hoover up dietary cholesterol and other lipids from their surroundings.

Cells intake of cholesterol has become textbook knowledge since it was discovered half a century ago, winning a Nobel Prize and inspiring the blockbuster drug statin and many others. But the new study found that one component of this process remained overlooked all this time.

The gene encoding it was only known as C12orf49, named after its location on chromosome 12. The researchers re-named the gene LUR1, for lipid uptake regulator 1, and showed that it helps switch on a set of genes directly involved in lipid import.

This was a big surprise to us that we were able to identify a new component of the process we thought we knew everything about, says Aregger. It really highlights the power of our global genetic interaction approach that allowed us to identify a new player in lipid uptake in a completely unbiased way.

By a remarkable coincidence, two groups working independently in New York and Amsterdam also linked C12orf49 to lipid metabolism, lending further support for the genes role in this process. The New York team published their findings in the same journal issue as Moffat and colleagues.

Inhibiting LUR1, or other components of lipid import, along with FASN could lead to more effective cancer treatments. Such combination therapies are thought to be less susceptible to emerging drug resistance because the cells would have to simultaneously overcome two obstaclesblocked lipid production and importwhich has a lower probability of occurring.

Therapeutic context that comes out of our work is that you should be targeting lipid uptake in addition to targeting lipid synthesis and our work highlights some specific genes that could be candidates, says Lawson.

Reference: Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism by Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone and Jason Moffat, 1 June 2020, Nature Metabolism.DOI: 10.1038/s42255-020-0211-z

The research was supported by the Canadian Institutes for Health Research, Ontario Research Fund, Canada Research Chairs Program and the U.S. National Institutes of Health.

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New Research Reveals the Function of Genetic Pathway for Reproductive Fitness in Flowering Plants – Newswise

Saturday, June 13th, 2020

Newswise ST. LOUIS, MO, June 11, 2020 Small RNAs are key regulators involved in plant growth and development. Two groups of small RNAs are abundant during development of pollen in the anthers a critical process for reproductive success. A research collaboration has demonstrated the function of a genetic pathway for anther development, with this pathway proven in 2019 work to be present widely in the flowering plants that evolved over 200 million years ago. The research team was led by Blake Meyers, Ph.D., member, Donald Danforth Plant Science Center and professor, Division of Plant Sciences, University of Missouri, and Virginia Walbot, Ph.D., Professor of Biology, Stanford University. Their findings, Dicer-like 5deficiency confers temperature-sensitive male sterility in maize were published in the journal,Nature Communications.

Unexpectedly, their research uncovered an environmentally sensitive male sterile phenotype. By using mutants and knocking out one of the pathways, the research team produced plants that failed to make pollen, but when they lowered the temperature, they found they could recover full male fertility. This ability to turn on or turn off pollen production in different conditions could be useful for seed production. The team could also attribute the function of this pathway in anther development, an observation previously missing but important. These results are important companions to a previously published discovery, which described the evolutionary distribution of the pathway across flowering plants, 24-nt reproductive phasiRNAs are broadly present in angiosperms,also published in the journalNature Communications.

Putting these two discoveries together, we can understand the role these molecules play is important for full male fertility in maize, plus, the pathway first evolved with flowering plants, said Meyers. Understanding the genetic mechanisms by which flowers develop is important for improving crop yields and breeding better varieties, particularly for making the high-yielding hybrid crops that support modern agriculture.

The research team will continue to work to understand why there is an environmentally-sensitive response to changes in this pathway, and what exactly is the molecular mechanism that leads to this male sterility in the absence of this small RNA pathway. Work in a separately funded project is examining if modulation of this pathway could be used to regulate pollen development in other crops, for the improvement of seed production and crop yield.

The authors include co-first authors, Chong Teng, Ph.D., postdoctoral associate in the Meyers lab and Han Zhang, Ph.D. former postdoctoral associate in the Walbot lab. Also contributing were Kun Huang, Ph.D., postdoctoral associate in the Meyers lab, and Reza Hammond, Ph.D., former graduate student in the Meyers lab. The work is funded by the National Science Foundation.

About The Donald Danforth Plant Science Center Founded in 1998, the Donald Danforth Plant Science Center is a not-for-profit research institute with a mission to improve the human condition through plant science. Research, education and outreach aim to have impact at the nexus of food security and the environment, and position the St. Louis region as a world center for plant science. The Centers work is funded through competitive grants from many sources, including the National Institutes of Health, U.S. Department of Energy, National Science Foundation, and the Bill & Melinda Gates Foundation. Follow us on Twitter at@DanforthCenter.

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Is Applied Genetic Technologies (AGTC) Stock Outpacing Its Medical Peers This Year? – Yahoo Finance

Saturday, June 13th, 2020

Investors focused on the Medical space have likely heard of Applied Genetic Technologies (AGTC), but is the stock performing well in comparison to the rest of its sector peers? One simple way to answer this question is to take a look at the year-to-date performance of AGTC and the rest of the Medical group's stocks.

Applied Genetic Technologies is one of 888 companies in the Medical group. The Medical group currently sits at #1 within the Zacks Sector Rank. The Zacks Sector Rank considers 16 different groups, measuring the average Zacks Rank of the individual stocks within the sector to gauge the strength of each group.

The Zacks Rank is a proven system that emphasizes earnings estimates and estimate revisions, highlighting a variety of stocks that are displaying the right characteristics to beat the market over the next one to three months. AGTC is currently sporting a Zacks Rank of #2 (Buy).

Within the past quarter, the Zacks Consensus Estimate for AGTC's full-year earnings has moved 11.64% higher. This signals that analyst sentiment is improving and the stock's earnings outlook is more positive.

Our latest available data shows that AGTC has returned about 15.71% since the start of the calendar year. At the same time, Medical stocks have gained an average of 0.21%. This means that Applied Genetic Technologies is outperforming the sector as a whole this year.

Looking more specifically, AGTC belongs to the Medical - Biomedical and Genetics industry, which includes 382 individual stocks and currently sits at #34 in the Zacks Industry Rank. This group has gained an average of 8.10% so far this year, so AGTC is performing better in this area.

AGTC will likely be looking to continue its solid performance, so investors interested in Medical stocks should continue to pay close attention to the company.

Want the latest recommendations from Zacks Investment Research? Today, you can download 7 Best Stocks for the Next 30 Days. Click to get this free reportApplied Genetic Technologies Corporation (AGTC) : Free Stock Analysis ReportTo read this article on Zacks.com click here.Zacks Investment Research

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The History Of Lynching From Trees: Where did it come from …

Tuesday, June 9th, 2020

Chev

But the Original Jews did NOT challenge Jesus, it was Jews such as the National group that stemmed from a movement prior to the time of Jesus. The Hellene Movement. So, Jesus was challenged by mixed-bred movement of people that were elevated above the Original Jews!!!

Therefore, they were probably telling the truth in that they had never been oppressed in Egypt.

YOU DO NOT UNDERSTAND WHAT THE PROBLEM WAS DURING THAT TIME! Geez!

You shouldn't be so quick to assume what I do and do not understand....lol.

I know there was a struggle between the Sadducees and Pharisees during the time of Jesus.What you're calling the Hellene Movement for the Jews to become more like the Greeks was led by the Pharisees -who were Persian overseers sent to Jersusalem to monitor the Jews when they returned from exile.

The Sadducees (sons of Zadok) wanted to maintain the religion the Moses gave them when he civilized them but the Pharisees wanted to move them more in line with the rest of the Caucasians called Gentiles or Greeks.

Get outta here! That was the book you used as a reference

Go back and look at my quotes.You will find NO QUOTE of me referencing a "Hebrew Standard Version".

I say there is the Hebrew Bible, and the various English translations like King James, American Revised, ect.....

The date of that translation was hundreds of years prior to the scriptures translated just before the time of the CRUSADES, of which became the basis for the

KJV which was translated by Hebrew Israelites.

YOur version is NOT received by Christians today for specific reasons.

But, I will add that I do know some of the terms you referenced is in an Ethiopian version [GEEZ]. But however, scholars today

do NOT agree with those terms for major reasons. and today, the people speak Amharic.

I'm not sure what you mean by "my" version.I don't have too much faith in ANY of them.....lol.But when discussing (or in this case arguing...lol) the Bible I like to get the PURIST source possible to find out exactly what the authors meant, so I usually used the HEBREW Bible.

I haven't quoted from the Hebrew Bible on this site because I have to post the text of it along with the translation and I'm not sure how to do that here.The texts is in both Hebrew and English letters.But that's the one I read from and use the most.

No. The very reference you quoted states that LOT was deceived; he had no idea.

OK?Whether he KNEW it or not, INCEST was still performed!

I said according to the Bible INCEST was commited, I didn't say Lot was willing to do it or started it or loved it or enjoyed it or was tricked into it....I said according to the Bible he DID it.And again, you can't find ANY scriptures where the Kenaani, Kemeti, Sumarian, or other Original peoples committed incest......drunk or sober.

Today, there are numerous findings that attest to the violence in that land byway of the Canaanites. They were BAAL PRIEST, that means HEADHUNTERS

Baal was a Kenaani deityZedek was anotherSalem (of which Jersusalem was named after) was another.

Most of these deities had "priests" or "Kohens" who served them in their dedicated temples.That doesn't mean they were killing people or cutting off heads for them.Melchizedek of the Bible was a Canaanite priest who came out to meet Abraham, was HE a head hunter?

As I told you before, the Kenaani were a very sexual people and this usually means violence was kept to a minimum.What credible source can you reference to say that the priests of Baal were headhunters?

The only record we have of people KILLING others and even chopping off heads (in the case of David) for their "god" are the Israelites who went around slaughtering the Original peoples of the land in the name of Yahweh....according to the Bible.

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Bestselling, Award Winning, New and Classic Books for …

Tuesday, June 9th, 2020

Mar/Apr 2020 | Jan/Feb 2020 | Nov/Dec 2019 | Sep/Oct 2019 | Jul/Aug 2019 | May/Jun 2019

Books Coming Out in the Next 6 Months and Beyond Books Published in the Last 60 Days The Most Critically Acclaimed Books of the Past 40 Years Top 150 Recommended African-American Childrens Books More Lists of Books

Bestselling Books for the Year 100 Essential Black Books Top 100 Selling Publisher Imprints Visit our Book Reviews Section 100 Bestselling Books of All-Time The Top 10 Books in 100 Different Categories 100 Bestselling Books of All Time Black-Owned Publishing Companies Favorite 100 Titles of the 20th Century The QBR 100 Essential Black Books Favorite 100 Titles of the 21sth Century (list being compiled now, cast your vote) Go On Girl! Book Clubs Complete Reading List (1991 2020) The Coffee Will Make You Black Book Clubs Reading List (19982006, and 2010) The Power List BestSelling Books (Spring 2013 to Spring 2015) Get Your Book on AALBC.com

We track all of the Black winners of the National Book Awards, Pulitzer Prize, Carter G. Woodson Award, Coretta Scott King Award, and many more. Winners of these awards are factored into our formula for determining The Most Critically Acclaimed Books of the Past 40 Years.

The Coffee Will Make You Black is AALBCs online book club. Check out our reading list and participate in discussions that take place over the course of a month. There is no commitment or pressure; just enjoy.

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what does it mean to be black – Culture, Race & Economy …

Tuesday, June 9th, 2020

Troy

You are equating Black primarily with skin color, with no real relationship to culture.

Exactly

Still, it is not clear given your definition why Obama is not Black. He is basically the same complexion as I am; am I not Black?

I've seen only limited picturesof you but you don't look Obama's complexion to me.Obama is a light brown complexion and you seem to be medium brown.

Also, his features are different than yours.His lips are thinner and his head is more "angular"....larger dome with a smaller jaw line...like most Europeans.

Like most AfroAmericans I'm sure you're mixed with White and Native American ancestry from way back, but sinceyour African features dominate I consider you Black.You don't have to be 100% just to be of a certain race, just be predominant in those traits.

But Obama's African features don't "dominate".....he's pretty even between both races phenotypically speaking.

Look Troy, the thing we must keep in mind is the fact that while Obama is DIRECTLY mixed....meaing one of his parents is actually White....many so-called "Black" people in the United States are INDIRECTLY mixed. Meaning they have a lot of White (and Native American) ancestry and it comes out in their complexion and facial features just like his does.

So when you point to another AfroAmericans and say:"Well THEY are Black andObama looks like THEM so Obama must be Black too!"

Really, all you're doing is comparing 2 mixed raced people!NEITHER ONE is truly"Black" racially speaking but the only difference is one has an immediateWhite parent and the other has Whites ancestorsfurtherback.

Which leads me to my NEXT response....................

My mother and sister are much lighter than Obama, are they also not Black? Let me know

I don't know, I would have to look at them to make that judgment.As I said before, although complexion/skin color is one of the BIGGEST factors in determining race, it's not the ONLY one....other features go into it.

There are groups of Africans in southern Africa known as San and Khoi people who are YELLOW in complexion with slanted eyes but are still "Black" racially speaking.

Speaking of southern Africa.........

If you're sitting back shaking your head and laughing at what I'm saying -Just remember that in South Africa you have millions of people just like us here in the United States but unlike us they all don't consider themselves "Black".

One group calls themselves Black and the other call themselves "Colored".Now the Coloreds look just like many AfroAmericans, light skinned with curly hair and some European features but they don't consider themselves Black!

So don't trip or think it's so ridiculous at my suggesting that many fellow AfroAmericans like Beyonce or Al B Sure or even Prince shouldn't be considered "Black",if this were any other nation besides the United States....trust me they probably wouldn't consider THEMSELVES Black either!

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Christine Taylor Butler, Author Info, Published Books, Bio …

Tuesday, June 9th, 2020

Writing for children is a joyful endeavor. It takes heart, passion, and one endearing story that yearns to be told. As with all things, commit to putting your own ideas on paper. A story left untold will never blossom or touch the heart of a reader. Christine Taylor Butler

Christine Taylor Butler grew up in Ohio surrounded by books and literature. She developed an overwhelming passion for reading and writing at an early age that defined her purpose and who she has become today. She read every opportunity that she got and even made up story filled adventures of her own. Sadly even though she was a gifted and prolific writer she was missing one ingredient in order to step out on her dreams of becoming a writer, and that was courage. Fear gripped her heart and to alleviate the fear of stepping out she became preoccupied with other productive tasks. Some entail a New England boarding school, two MIT degrees (Engineering and Art & Design)and a series of jobs that included working for a start-up software company. Following thereafter was several years at Harvard University and more than a decade as a Graphic Arts Manager at Hallmark Cards. Although she was productive the overwhelming desire to write kept knocking on the doors of her heart until she eventually opened up.

One of the main reasons for her courageously stepping out in pursuit of a career as an author was the love that her two daughters had for reading childrens books. But it saddened her to see their urban peers did not. She came to the conclusion that sadly multicolored children dont see themselves as being relevant in todays society or as having the potential to make a difference. And even though more books are now like never before presenting children of color in a more positive light Christine wanted to really ensure that this continued. As a result of her lending her voice and being an agent of change her writing career soared. Since then she has released 65 commercially published books.(2018)

Christine Taylor Butler is a force to be reckoned with. She genuinely enjoys the journey of childrens book writing and prides in the fact that she was courageous enough to answer the call to write. She has received a countless amount of awards, ranging from Best Childrens Book of the year by Bank Street College Of Education. Best Books Of The Year by Nebraska Library Association, Best Childrens Book of the year by Barnes and Noble Review. As well as Best Multicultural Books list just to name a few. Her accolades attest to the fact that writing, inspiring and captivating the hearts of children through writing is what she was destined to do.

Author profile written by Daisy Copelin.

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New Genetic Identification of COVID-19 Susceptibility Will Aid Treatment – SciTechDaily

Tuesday, June 9th, 2020

The clinical presentation of Covid-19 varies from patient to patient and understanding individual genetic susceptibility to the disease is therefore vital to prognosis, prevention, and the development of new treatments.

For the first time, Italian scientists have been able to identify the genetic and molecular basis of this susceptibility to infection as well as to the possibility of contracting a more severe form of the disease. The research will be presented to the 53rd annual conference of the European Society of Human Genetics, being held entirely on-line due to the Covid-19 pandemic, today [Saturday].

Professor Alessandra Renieri, Director of the Medical Genetics Unit at the University Hospital of Siena, Italy, will describe her teams GEN-COVID project to collect genomic samples from Covid patients across the whole of Italy in order to try to identify the genetic bases of the high level of clinical variability they showed. Using whole exome sequencing (WES)[1] to study the first data from 130 Covid patients from Siena and other Tuscan institutions, they were able to uncover a number of common susceptibility genes that were linked to a favorable or unfavorable outcome of infection. We believe that variations in these genes may determine disease progression, says Prof Renieri. To our knowledge, this is the first report on the results of WES in Covid-19.

Searching for common genes in affected patients against a control group did not give statistically significant results with the exception of a few genes. So the researchers decided to treat each patient as an independent case, following the example of autism spectrum disorder. In this way we were able to identify for each patient an average of three pathogenic (disease-causing) mutations involved in susceptibility to Covid infection, says Prof Renieri. This result was not unexpected, since we already knew from studies of twins that Covid-19 has a strong genetic basis.

Although presentation of Covid is different in each individual, this does not rule out the possibility of the same treatment being effective in many cases. The model we are proposing includes common genes and our results point to some of them. For example, ACE2 remains one of the major targets. All our Covid patients have an intact ACE2 protein, and the biological pathway involving this gene remains a major focus for drug development, says Prof Renieri. ACE2 is an enzyme attached to the outer surface of several organs, including the lungs, that lowers blood pressure. It serves as an entry point for some coronaviruses, including Covid-19.

These results will have significant implications for health and healthcare policy. Understanding the genetic profile of patients may allow the repurposing of existing medicines for specific therapeutic approaches against Covid-19 as well as speeding the development of new antiviral drugs. Being able to identify patients susceptible to severe pneumonia and their responsiveness to specific drugs will allow rapid public health treatment interventions. And future research will be aided, too, by the development of a Covid Biobank accessible to academic and industry partners.

The researchers will now analyze a further 2000 samples from other Italian regions, specifically from 35 Italian Hospitals belonging to the GEN-COVID project.[2]

Our data, although preliminary, are promising, and now we plan to validate them in a wider population, says Prof Renieri. Going beyond our specific results, the outcome of our study underlines the need for a new method to fully assess the basis of one of the more complex genetic traits, with an environmental causation (the virus), but a high rate of heritability. We need to develop new mathematical models using artificial intelligence in order to be able to understand the complexity of this trait, which is derived from a combination of common and rare genetic factors.

We have developed this approach in collaboration with the Siena Artificial Intelligence Lab, and now intend to compare it with classical genome-wide association studies[3] in the context of the Covid-19 Host Genetics Initiative, which brings together the human genetics community to generate, share, and analyze data to learn the genetic determinants of COVID-19 susceptibility, severity, and outcomes. As a research community, we need to do everything we can to help public health interventions move forward at this time.

Chair of the ESHG conference, Professor Joris Veltman, Dean of the Biosciences Institute at Newcastle University, Newcastle upon Tyne, UK, said: We are very excited to have this work on the genetics of COVID19 susceptibility presented as one of our late-breaking abstract talks at the ESHG. Our Italian colleagues present the first insight into the role of genetic susceptibility influencing the severity of the response to a COVID19 infection. It needs to be expanded to encompass much larger populations, but it is impressive to see the speed at which research on this virus has proceeded in just a few months time.

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Do you have the rocket gene? Why genetics may decide whether you like the peppery veggie – The Independent

Tuesday, June 9th, 2020

Love it or hate it, rocket is popular all over the world. Also known as arugula, roquette and rucola, its known for its pungent and peppery flavours. It might look like an unassuming leafy vegetable, but the reasons for its taste, health benefits and whether we like it all comes down to genetics.

Rocket actually encompasses several species, all of them part of the same family as broccoli, cabbage, kale, mustard and watercress the Brassicales. Its distinctive aroma and flavours are created by chemical compounds produced by its leaves, called isothiocyanates. Some of these compounds can be eye-wateringly hot, whereas others can have a radishy flavour or none at all.

In the wild, isothiocyanates are thought to help defend plants from herbivores and disease, and also help it tolerate environmental stress. But for humans, eating isothiocyanates confers health benefits. Studies have shown them to have anti-cancer properties, and anti-neurodegenerative effects against diseases such as Alzheimers.

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For this reason, plants containing isothiocyanates interest scientists particularly those with little taste and flavour. One such compound is sulforaphane, which is found in rocket and broccoli. Several years ago, researchers produced a super broccoli with high amounts of sulforaphane. Consumers couldnt taste the difference, and it was later shown to be effective in preventing and slowing prostate cancer and in lowering cholesterol.

But one advantage with rocket is that it doesnt need cooked to be eaten. Heating other Brassicales, like broccoli, to over 65C inactivates myrosinase, which is an enzyme in their tissues that converts compounds called glucosinolates into sulforaphane and other isothiocyanates when people chew these plants. If the myrosinase is inactivated, consumers will receive little or none of the associated health benefits, no matter how much is bred into the plants.

Chewing aside, theres some evidence to suggest that our gut microflora possess their own myrosinase and can convert glucosinolates to isothiocyanates for us. The amounts this produces are likely to be quite small, but release may be sustained, exposing our cells to compounds like sulforaphane for longer periods.

But the biggest barrier to people getting these beneficial molecules from rocket is the taste. This depends on when and where rocket crops are grown. In the summer, leaves can be extremely spicy and pungent, whereas in the winter they can be bland and tasteless.

There are many different varieties of rocketiStock)

Growth temperature likely plays a big role in determining the amounts of isothiocyanates released from leaves. Probably a stress response by the plants, it means hotter countries like Italy may produce more pungent leaves.

You can test this effect at home. Get two small pots and some rocket seeds from a local garden centre or supermarket. Plant two or three seeds in each. Keep one well-watered and relatively shaded, and the other in direct sunlight, watering infrequently. After a few weeks, taste the leaves from each pot one should taste much hotter.

The taste and flavour of rocket also varies because of the genetics of different varieties. Not only do leaves contain hot, pungent isothiocyanates, but also sugars (which create sweetness); pyrazines (which can smell earthy and pea-like); aldehydes (which smell like grass); alcohols (one in particular smells just like mushrooms); and many other types yet to be identified.

Recently, the worlds first rocket genome and transcriptome sequence was produced from the Eruca sativa species, allowing researchers to understand which genes may be responsible for making the compounds related to taste and flavour. Its genome contains up to 45,000 genes, which is more than the 42,611 genes humans are thought to have.

The research also found that different varieties produce more isothiocyanates and sugars than others. This explains why leaves can taste so different in the supermarket, even when bought from the same shop at the same time of the year. By knowing which genes are expressed in tissues and when, we can select rocket plants with improved taste and flavour profiles and breed new and improved cultivars.

To further complicate matters, our own genetics mean we dont all taste chemical compounds the same. We have many thousands of different odour receptors in our brains, and many different combinations of taste receptors on our tongues. These genetic differences are one of the reasons why coriander tastes different to different people. Those with a variant of the OR6A2 gene perceive the leaves as having a soapy flavour, which is thanks to the aldehyde compounds in coriander that activate this receptor variant.

Depending on whether you have a functioning or non-functioning copy of certain taste receptor genes, you may not be able to taste certain compounds at all. In the other extreme, if you have two working copies of a particular gene, some foods may taste unbearably bitter and unpleasant.

Another classic example is Brussels sprouts. Some people love them, while others loathe them. This is because of the gene TAS2R38 which gives us the ability to taste the bitter glucosinolate compounds in these vegetables as well as rocket.

Love or loathe? The superfood continues to divide (iStock)

Those people with two working copies of the gene are bitter supertasters. People with only one are medium tasters, while those with no working copies are blind to these compounds. So what is intense and inedible to one person might be pleasant and mild to another.

This partly explains peoples general food preferences and rocket leaves are an excellent example of these processes in action. A consumer study of rocket leaves showed that some people like them hot and pungent, others like them sweet and mild, and others just dont like them at all.

However, peoples culture and life experience probably also determine whether they like rocket and other foods. A previous study of rocket showed that peoples genetic differences are not necessarily an indicator of whether they will like something. Its perfectly possible to be a bitter supertaster and like rocket and Brussels sprouts depending on your upbringing and exposure to them.

Another study showed that preference for flavour and pungency of white radish is linked to differences in geography and culture. Japanese and Korean people liked pungency created by an isothiocyanate much more than Australians. Pickled radish is a common condiment in Asian countries: being regularly exposed to a food may predispose people to like it, irrespective of their taste sensitivity.

Very little is currently known about the interactions between plant and human genotypes. But ongoing research aims to find out which compounds people with different TAS2R38 genotypes are sensitive to. This will make it possible in the future to selectively breed in (or out) certain genes, and produce rocket types tailored to a persons preferences.

Luke Bell is a lecturer in temperate horticulture at the University of Reading. This article first appeared on The Conversation

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Do you have the rocket gene? Why genetics may decide whether you like the peppery veggie - The Independent

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Deep exploration of the genetic dependencies of antibiotic function on SelectScience – SelectScience

Tuesday, June 9th, 2020

Massively parallel microbial strain engineering on a CRISPR-based benchtop platform has enabled the exploration of the genetic dependencies of antibiotic function in unprecedented scale and detail. The ability to design and deliver precisely determined edits throughout the entire E. coli genome has resulted in an unparalleled opportunity to query a diverse population of strain variants for their growth responses to antibiotics from multiple different functional classes.

Find out more in this expert webinar as Dr. Dan Held, Director of Synthetic Biology, Microbial Applications Development, Inscripta, outlines how the knowledge garnered through the use of this strain engineering technology has significant potential to lead to the development of novel therapeutics against our most difficult antibiotic-resistant pathogens.

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Deep exploration of the genetic dependencies of antibiotic function on SelectScience - SelectScience

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Expert Insight: Discover the genetic dependencies of antibiotic function – SelectScience

Tuesday, June 9th, 2020

Join us on Friday, June 19, to find out how massively parallel microbial strain engineering may lead to the development of novel therapeutics to combat the most difficult antibiotic-resistant pathogens

Massively parallel microbial strain engineering on a CRISPR-based benchtop platform has enabled the exploration of the genetic dependencies of antibiotic function in unprecedented scale and detail. The ability to design and deliver precisely determined edits throughout the entire E. coli genome has resulted in an unparalleled opportunity to query a diverse population of strain variants for their growth responses to antibiotics from multiple different functional classes.

Find out more in this expert webinar as Dr. Dan Held, Director of Synthetic Biology, Microbial Applications Development, Inscripta, outlines how the knowledge garnered through the use of this strain engineering technology has significant potential to lead to the development of novel therapeutics against our most difficult antibiotic-resistant pathogens.

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This webinar will run on Friday, June 19, 2020, at:

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