Category Archives: Human Genetics

RIO GRANDE VALLEY, Texas According to a release, UTRGV is increasing the number of COVID-19 tests it can process from 150 to 1,000 daily.

The release attributes this increase to an automated extraction machine called the Thermo Fisher Kingfisher Flex.

The Kingfisher will dramatically expand our testing capacity, said Dr. John Thomas, assistant professor in the Department of Human Genetics at the UTRGV School of Medicine and director of the UT Health RGV Clinical Laboratory, It will help us support the local, county, regional and state demands for testing to meet the federal guidelines for reopening the state economy and getting Texas back to a more normal setting.

Previously UTRGV could only run 150 samples per day with manual extraction, said the release.

Dr. John H. Krouse, Dean of the UTRGV School of Medicine and executive vice president for Health Affairs also said that they are looking to bring antibody testing and contract tracing capabilities to UTRGV as quickly as possible.

You can schedule an appointment to be screened for COVID-19 by calling 1-833-UTRGVMD, they have four drive-thru testing sites located in Edinburg, Mercedes, Harlingen, and Brownsville.

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COVID-19 testing capacity increased to 1,000 daily for UTRGV - KGBT-TV

Part of a special feature celebrating and recognizing the Class of 2020 at Memorial.

Daniel Evans is one of only three people to complete the MD-PhD program in the Faculty of Medicine.

For the spring graduate, this means he can be a physician and a scientist, something he always knew would be his path.

He says he always knew he wanted to help people. His grandmother, Mary Evans, was one of the biggest influences on his life and his decision to pursue medicine.

She had Parkinsons disease and watching her grow old, she taught me a lot about having grace in the face of adversity, said Mr. Evans, who comes from a family of six. I think she would have been proud of me this year.

Mr. Evans completed a bachelor of science (hons.) degree at Memorial in 2012 before starting the graduate program in human genetics at the Faculty of Medicine.

The same year he wrote his PhD comprehensive exam, Mr. Evans was accepted into the doctor of medicine (MD) program and, later, the joint MD-PhD program.

He completed both simultaneously, winning several awards in both and publishing some significant research while still in medical school.

Genetics is a great field because the technology is always advancing and integrating new discoveries with patient care is something I find rewarding, he said.

When he started his graduate work, geneticists were just gaining access to a new technology called next-generation DNA sequencing.

Mr. Evans PhD research focused on working with families from Newfoundland and Labrador who have rare disorders with mutations that could not be discovered with conventional DNA sequencing, but could by using the new method of whole exome sequencing.

His research led to the successful discovery of two new mutations, one in a disease called retinitis pigmentosaand the other in Weill-Marchesani syndrome.

He also worked with Dr. Michael Woods on the genetics of hereditary colorectal cancer in the province.

The St. Johns native completed clerkship rotations in rural N.L., including family medicine in Twillingate, internal medicine in Gander and general surgery in St. Anthony.

There are some really great mentors who teach in these communities, he said. I think training in smaller, more close-knit, health-care teams has taught me the value of collaboration and professionalism. I think it influences you to think more holistically about health care, be broader in your learning and it encourages you to go the extra mile for your patients.

The story of genetics is something that impacts everyone. Daniel Evans

It was some of those families he met who participated in Evans genetics research, for which hes grateful.

For me, its about listening to peoples stories, their family histories and their personal struggles, he said. The story of genetics is something that impacts everyone, from our eye colour, our medical history, even the way our bodies metabolize certain medications. It explains evolution and our ancestral heritage and is something that links us all together.

Mr. Evans defended his PhD thesis during his clinical rotation in internal medicine this spring and passed with distinction. On the medical school side, hell be starting as a family medicine resident in Victoria, B.C., in July.

He wants to use his research experience to help bring new discoveries into medical practice.

I like the idea of being a family doctor with genetics training specifically because I think its an important skill set for any physician to have. Im hoping to join a small group of family doctors who are working to bring modern genetics into routine clinical practice.

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Evolution of practice - Gazette

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Researchers seek answers to viruss mysteries, clues to possible treatments

Washington University School of Medicine in St. Louis is one of more than 30 genome sequencing hubs worldwide participating in a study to sequence the DNA of young, healthy adults and children who develop severe COVID-19 despite having no underlying medical problems. The researchers also will study people who never become infected despite repeated exposures to coronavirus. Knowledge gained from understanding COVID-19s extremes could lead to new therapeutic strategies for the illness.

To help unravel the mysteries of COVID-19, scientists are sequencing the DNA of young, healthy adults and children who develop severe illness despite having no underlying medical problems. The researchers are looking for genetic defects that could put certain individuals at high risk of becoming severely ill from the novel coronavirus.

The McDonnell Genome Institute at Washington University School of Medicine in St. Louis is one of more than 30 genome sequencing hubs worldwide participating in the study. Rheumatologist Megan A. Cooper, MD, PhD, an associate professor of pediatrics, is leading the research at Washington University. Called the COVID Human Genetic Effort, the international project is co-led by the National Institute of Allergy and Infectious Diseases of the National Institutes of Health (NIH), and Rockefeller University.

The researchers also plan to study people who never become infected with SARS-CoV-2, the virus that causes COVID-19, despite repeated exposures. Such individuals may have genetic variations that protect against infection. For example, certain rare genetic variants are known to thwart some types of viral infections, including HIV and norovirus. Knowledge gained from understanding COVID-19s extremes unusual susceptibility and resistance could lead to new therapeutic strategies for the illness.

The first focus of our study will be patients with severe responses to SARS-CoV-2 infection severe enough to require intensive care who appear otherwise healthy and are younger than 50, said Cooper, who also leads the clinical immunology program and the Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies at St. Louis Childrens Hospital.

These patients dont have uncontrolled diabetes, heart disease, chronic lung disease or any other condition that we know increases the risk of severe complications from COVID-19, she said. For example, we sometimes see stories about, say, a marathon runner or a generally fit, healthy person who nevertheless got very sick from this virus, or the few healthy children who are getting very sick with COVID-19. These are the kinds of patients were interested in for this study. A small proportion of hospitalized patients will fit this category, likely less than 10%.

Cooper studies primary immunodeficiencies in children. Primary immunodeficiencies are a group of more than 450 genetic disorders of the immune system. They often are caused by mutations in single genes that affect different aspects of immunity.

With this pandemic, we can use our skills in gene hunting to search for genes that might be associated with severe COVID-19 in children and younger adults, she said. We can foresee a future ability to do a genetic sequencing test for individual patients hospitalized with SARS-CoV-2 and get an idea of whether they are likely to need more intensive care. In the meantime, we will be able to learn a great deal about how the immune system responds to this virus and what it needs to be able to respond effectively and in an appropriate manner.

These patients genetics could reveal the important immune pathways that the body needs to fight the virus. That knowledge could lead to therapies that also could help other patients who dont have a genetic susceptibility to the virus but perhaps have high-risk conditions, such as diabetes or heart disease.

Our immune systems have never seen this virus before, Cooper said. Were seeing severe COVID-19 complications play out across the world right now. It is going to take a global effort to investigate the genetic factors and the immune system factors that really control this infection.

Research related to COVID-19, including collecting and distributing of patient samples, is managed through Washington Universitys Institute of Clinical and Translational Sciences (ICTS), led by William G. Powderly, MD, who is also the Larry J. Shapiro Director of the Institute for Public Health, the J. William Campbell Professor of Medicine and co-director of the Division of Infectious Diseases.

This research is supported by funding from the St. Louis Childrens Hospital Foundation and the Jeffrey Modell Foundation.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, ranking among the top 10 medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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COVID-19 study looks at genetics of healthy people who develop severe illness - Washington University School of Medicine in St. Louis

Throughout history 6 000 -- 7 000 plant species have been cultivated for food. Yet today 40 percent of our daily calories come from just three crops: rice, wheat and maize. Humans depend on little more than 30 plant species, many of which are struggling in the face of today's environmental changes. With biodiversity and entire ecosystems in serious decline, the International Treaty on Plant Genetic Resources for Food and Agriculture plays an increasingly important role in promoting farmers and their essential contribution to diversifying the crops that feed the world. The Treaty was negotiated by FAO and the Commission on Genetic Resources for Food and Agriculture (CGRFA) and adopted in 2001 to create a global system that provides farmers, plant breeders and scientists with access to plant genetic materials.

The genetic material in each variety of species is unique and precious. Derived from human and natural selection for many decades, these genetics are fundamental to our future of food. Genetic material ensures agricultural biodiversity and gives different species the ability to cope with changes, whether it be climate change, new pests and diseases, drought and even flooding. The Treaty's Benefit-sharing Fund invests in projects that conserve and develop crop genetic resources to improve food security in cooperation with farmers.

Here are three examples of how this Treaty has helped farming communities in developing countries cope with climate change and other environmental threats.

1. Exchanging and developing biodiverse potato varieties in Peru, Nepal and Bhutan

There are over 4 000 native varieties of potato growing in the Andean highlands. These varieties are well-adapted to harsh conditions and a changing climate. In contrast, Nepal and Bhutan have only two locally adapted potato varieties but face similar conditions and environmental threats as the Andes. With this in mind, the project sought to reduce the vulnerability of these mountain communities by introducing potatoes that are more resilient to extreme temperatures and offer better nutritional quality. Working closely with the International Potato Centre in Peru, farmers in Nepal and Bhutan became directly involved in selecting new, high-yielding, resilient and biodiverse varieties of potato. The genetic material from these potatoes has since been conserved, multiplied and used by national agricultural research systems in all three countries.

** 2. Conserving plant genetic resources to improve food and nutrition in Zimbabwe, Malawi and Zambia

Being heavily reliant on the success of the maize crop, communities in Zimbabwe, Malawi and Zambia have in recent years faced a severe food shortage because maize crops have been unable to withstand the effects of climate change, such as higher temperatures and torrential rains. "Because of the changing climate, our farm was producing less food, and most crops have not been doing so well apart from millet and sorghum," explained Lovemore Tachokere, a smallholder farmer from Malawi. Through the Benefit-sharing fund and the introduction of 159 Farmer Field Schools across the three countries, farmers were given support and a voice. They started introducinglost varieties of different crops, creating diversity in their fields that also ensured more varied and nutritious diets. As part of the project a total of 300 lost or forgotten small grain crop varieties were retrieved from national, regional and international gene banks as part of the Treaty's Multilateral System. These seeds are now available to farmers and scientists for further study and the development of new climate-smart varieties.

3. Ensuring a resilient cassava crop in Tanzania and Kenya

Cassava is the third largest source of carbohydrates in the world, playing a particularly important role in agriculture in sub-Saharan Africa because it does well in poor soils and with low rainfall. Additionally, because it is a perennial, cassava acts as a famine reserve. In recent years, however, extreme temperatures, drought, flooding and a new virus, provoking 'brown streak disease', have affected cassava cultivation in the region. In Tanzaniaand Kenya, a project implemented through the Benefit-sharing Fund has led to new, more resistant and tolerant cassava breeding lines, including 30 that are heat and disease tolerant. While the farmers are now experimenting with planting new cassava varieties and using improved agricultural practices, breeders and scientists have access to improved plant material from which to select essential genetic material for future use. Community seed banks have been established through the Benefit-sharing Fund in conjunction with Farmer Field Schools and are an important initiative to collect and conserve local crop varieties. They function as a platform for farmers to control and make informed decisions on the conservation of agrobiodiversity and the cultivation of a variety of crops with nutritional value.

In the 15 years since it came into force, the International Treaty hosted by FAO has created the largest global gene pool for sharing plant material for food and agriculture, the Multilateral System of Access and Benefit-sharing (MLS). The Benefit-sharing Fund has supported over one million people through 80 agricultural development projects in 67 developing countries. These projects are clear examples of how effective the sharing of skills and knowledge across continents can be and they are crucial in the race to meet the Sustainable Development Goals (SDGs), in particular SDG 15 (Life on Land) and SDG2 (Zero Hunger). Projects under the Benefit-sharing Fund are an indication that FAO's Strategy on mainstreaming biodiversity across agricultural sectors is already taking shape and showing positive results, demonstrating that the greater the diversification of crops, the more food secure a community can become and the more resilient they find themselves in the face of current threats like climate change, pests and disease.

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Enhancing food diversity in the midst of a climate crisis: How plant genetic material ensures future food security - Kenya - ReliefWeb

FRIDAY, May 22, 2020. 1:00 1:30 p.m.

Like A Boss Now is a series of live webinar interviews where you can hear insightful, first-hand accounts of the realities of running a business. Portland Press Herald CEO and Publisher Lisa DeSisto will interview Maine CEOs for insights on how they are managing, adapting, and problem solving in these ever-changing times.

JAX President & CEO Dr. Edison Liu will speak about how institutions can proactively and safely deal with pandemic challenges and move back to work, the importance of robust viral testing programs and collaborations, and his understanding of the complex dynamics that incorporates medicine, science, government, culture, and business for response and recovery at many levels the nation, the state, and the workplace. He will share his experience leading the successful scientific response to the SARS crisis in Singapore in 2003 as the executive director of the Genome Institute of Singapore, for which he earned the Presidents Public Service Medal, and how he has propelled The Jackson Laboratory as an innovator in how a workplace should respond to keeping employees safe while maintaining essential services and productivity.

Previously, Dr. Liu was the founding executive director of the Genome Institute of Singapore (2001-2011), and was the president of the Human Genome Organization (HUGO) from 2007-2013. Between 1997 and 2001, he was the scientific director of the National Cancer Institutes Division of Clinical Sciences in Bethesda, Md., where he was in charge of the intramural clinical translational science programs.

From 1987 to 1996, Dr. Liu was a faculty member at the University of North Carolina at Chapel Hill, where he was the director of the UNC Lineberger Comprehensive Cancer Centers Specialized Program of Research Excellence in Breast Cancer; the director of the Laboratory of Molecular Epidemiology at UNCs School of Public Health; chief of Medical Genetics; and the chair of the Correlative Science Committee of the national cooperative clinical trials group, CALGB. Dr. Liu is an international expert in cancer biology, genomics, human genetics, molecular epidemiology and translational medicine.

Dr. Lius own scientific research has focused on the functional genomics of human cancers, particularly breast cancer, uncovering new oncogenes, and deciphering on a genomic scale the dynamics of gene regulation that modulate cancer biology. He has authored over 300 scientific papers and reviews, and co-authored two books. He obtained his B.S. in chemistry and psychology, as well as his M.D., at Stanford University. He served his internship and residency at Washington Universitys Barnes Hospital in St. Louis, followed by an oncology fellowship at Stanford. From 1982 to 1987 he was at the University of California, San Francisco, at the G.W. Hooper Foundation.

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Like a Boss Now: One-on-one with Dr. Edison Liu, President and CEO of The Jackson Laboratory - Kennebec Journal & Morning Sentinel

In 1994, researchers found two chimpanzees dead in Cte dIvoires Ta National Park, which holds West Africas largest rainforest. Autopsies of the chimpanzees revealed signs of hemorrhage resembling those found in humans during outbreaks of ebolavirus that occurred decades earlier in Zaire and Sudan. Indeed, further studies led to the designation of Ta Forest ebolavirus, one of five known strains of the virus that can lead to the ebolavirus disease. One researcher in the park contracted the disease during this time.

This is one of many stories of a zoonotic disease, also referred to as a zoonosis, which is a disease transmitted to humans by animals. Zoonoses are transmitted via direct or indirect contact with an infected individual, consuming contaminated food or water, or through vectors for example, being bitten by a mosquito carrying the disease.

The focus on transmission to humans dominates the global narrative of zoonoses, which include West Nile, rabies, Lyme and others. But certain pockets of the zoological research community focus on the reverse: humans transmitting zoonoses to wildlife, known as zooanthroponosis or anthroponosis.

In the current case of COVID-19, researchers of non-human primates have sounded alarm bells for the risks humans pose for transmitting SARS-CoV-2, the viral pathogen that causes the COVID-19 or coronavirus disease, to species of primates, including monkeys and apes. Being among some of the worlds most endangered species, of particular concern are wild great apes, including bonobos, eastern and western gorillas, orangutans and chimpanzees.

These types of outbreaks can have really devastating effects on primate populations, says says Amanda Melin, a biological anthropologist who runs the Primate Genomics and Ecology lab at the University of Calgary. This is a great example of the risks that we pose to other animals in the earth.

So far, there have been no positive tests of COVID-19 in wild great apes but the deadliness of the disease, should transmission occur, is likely high.

Its the quickest study Ive ever been involved in, says Melin of a study she co-led with Mareike Janiak, a postdoctoral scholar in molecular anthropology, and James Higham, a primate evolutionary biologist at New York University, that helps dispel the guesswork of which non-human primate species are at greatest risk. The study was conducted within about seven days in early April and posted to a preprint server shortly thereafter because of the urgency of its findings, which examine the genetics behind how the SARS-CoV-2 pathogen triggers the COVID-19 disease itself.

In order for a viral pathogen to take hold in a host, the proteins on its surface must bind with certain proteins on the surfaces of a hosts cells. Once the pathogens protein has found its cellular protein match, known as a receptor, the pathogen can enter the cell and trigger the disease. Coronavirus pathogens not just of COVID-19, but of other coronaviruses as well express spike proteins on their surfaces.

If the viruss protein cant find anywhere to bind, then its not going to become infectious, Melin puts simply.

Genes determine which proteins are formed on which cells. Melins study examines the coding sequence of the ACE2gene, which codes the cellular protein (the ACE2 receptor) for the SARS-CoV-2 pathogen. These receptors are found in endothelial tissues throughout the body, including in the lungs, hence the diseases respiratory effects.

As is the case concerning most forms of life, less diversity means less resilience to threat, and so too does it go for genetic predisposition to COVID-19.

Proteins are made of amino acids. Genes can vary in the sequences of their comprising DNA, and the variants of a gene will code protein receptors with different structures of their amino acids. Receptors with a range of structures make it more difficult for a pathogen to find its match.

With that context, consider this statement from Melins study: Here, we show that all apes, including chimpanzees, bonobos, gorillas, and orangutans, and all African and Asian monkeys, exhibit the same set of twelve key amino acid residues as human ACE2.

In other words, we and many of our primate cousins are in the same boat of being highly susceptible because we have highly similar ACE2 genes and receptors, making it easier for the SARS-CoV-2 pathogen to find its binding match on our cells.

Interestingly, the study found that monkeys in the Americas, and some tarsiers, lemurs and lorisoids, had more ACE2 genetic variation, indicating that many species are likely less susceptible. However, Melin warns, some lemur species are also likely to be highly susceptible, which is worrying as they are also among the most endangered primates.

(Bats, notorious for being hosts and spreaders of coronaviruses, have exceptionally high ACE2 genetic variation. Within just the handful of bat species that we looked at, we saw genetic variation equivalent to the variation we saw across the entire range of other mammals we included, says Melin.)

Its easy to imagine that were closely related to other non-human primates, and so we should be careful with diseases. But knowing that they have the exact same sites and should be equally susceptible to us, and seeing what its doing to humans around the world its really concerning.

At the end of 2016 and into early 2017, chimpanzees in the Ta forest were seen with cold-like symptoms. While it did not prove deadly, the illness was found by researchers to have been a coronavirus passed to the chimpanzees from humans, likely poachers.

Similar to Gombe, disease is the leading challenge for conservation of chimpanzees at Ta, says Thomas Gillespie, whose work with wild great apes in Africa includes directing theGombe Ecosystem Health Project, in addition to running the Gillespie Lab at Emory University. Because of that, were always alert to the risk of disease exposure from people. The Ta team, 10 years ago or so, had a major respiratory outbreak that killed all the young chimpanzees

The tell-tale signs of COVID-19 are likely also the same for human and non-human primates, namely dry cough and fever.

We expect to see human-like symptoms, or more extreme versions of those. Laboratory-based infection of macaques resulted in similar disease progression to what were seeing in humans, says Gillespie.

Because best practices of wildlife conservation, and especially with wild great apes, demand limited human interaction, researchers rely on technology to check animals for symptoms from a safe and hidden distance. Laser thermometers are used to check fecal masses immediately after defecation to determine body temperatures. Blood meals from mosquitos are tested to keep track of pathogens circulating between them and animals. Carrion flies, which feast on dead animals, can give insights on mortality.

The Cross River gorillas, for example we never see them because theyre very cryptic, says Gillespie of the critically endangered species. Only an estimated 200 or 300 remain, residing at the border of Nigeria and Cameroon. But the flies are still going to find them. Flies are going to let us know if theres a spike in mortality. And then that can alert us to potential issues.

Should COVID-19 begin to be found in wild great apes, there is good and bad news. The bad is that quarantining isnt an option. Because of group dynamics, individual animals within most groups cannot be removed They dont respond well it tends to go quite badly, says Gillespie making the likelihood of virus spreading to the entire group of a single infected animal quite high.

And, once a wild animal has left the wild, he adds, there are tremendous threats involved with putting them back in the wild because we might have exposed them to additional pathogens in the sanctuary setting.

So we cant think about things like darting individuals, removing them from the group, quarantining them. We have to really focus on them not becoming infected. And thats the most important thing.

Gillespie nonetheless expects the virus to make its way into at least some populations of wild apes populations. The key now is to understand how it is likely to spread among species, based on exposure as well as the apes behavior and ecology. For example, in some places, habituated apes those accustomed to proximity to humans might be exposed to SARS-CoV-2, but will likely never come into contact with non-habituated apes. In other areas, this might not be the case.

And in yet other areas, monkeys that share habitats with apes baboons and vervet monkeys in Africa; macaques in Asia might spread the virus among great ape groups, or act as intermediaries, carrying the virus from humans to great apes.

This is something were actively working on, says Gillespie, who is leading a team focused on creating a model of sites across Africa and Asia to guide location-based best practices for ape conservation during the pandemic. Were modeling the different ape species, including variables like demographics, behavioral ecology, and proximity to humans and other susceptible species. This can all influence the dynamics of transmission to wild great apes.

Many protected areas inhabited by wild great apes have quickly developed lockdown measures of their own, such as shutting down tourism, logging and mining operations and extensively testing staff and researchers.

One of the major efforts currently addressing this is led by the Primate Specialist Group and the Wildlife Health Specialist Group, both of the International Union for Conservation of Nature. The two groups released a joint statement in early March, listing ways that humans can minimize risks to wild great apes, including disinfecting their footwear, wearing surgical masks, quarantining when coming from abroad, and immediately leaving an area when feeling the need to cough or sneeze and not returning.

But for local communities who depend on the use of certain forests, current measures might mean theyre left without a livelihood. To this end, the IUCN has created a task force, which includes Gillespie, focused on COVID-19s impacts on areas where wildlife and communities share and depend on the same ecosystems. One component of this effort has been distributing funds to communities that might otherwise be forced to resort to actions that could threaten wildlife.

Melins and Gillespies studies and others like them are proving crucial tools for these conservationists to know where and how to allocate resources to protect species highly vulnerable to the disease, as well as provide scientific backing to policy- and decision-makers about the vulnerability of these species.

Even after the heightened phase of the pandemic has lessened, changes must continue to be made, she says: For primate observational research, we need to continue to be really careful about quarantining ourselves and about our proximities, always using best practices when were interacting with non-human primates. More generally, I hope we can slow and then stop the illegal trade of wildlife, which might help prevent future, different outbreaks.

And then she broadens her thoughts: How will it feel collectively, as humans, if were responsible for the rapid extermination of these species from the Earth?

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What the genetics of COVID-19 mean for the survival of wild great apes - Landscape News

Three Day Event Convenes Patient Advocates, Healthcare Providers, Scientists, Policymakers, Industry Leaders, Faith and Grassroots Organizations and Influencers for a National Conversation to eliminate the disparity gap and Improve the Health Outcomes of African American Women.

Reston, VA, May 21, 2020 --(PR.com)-- Tigerlily Foundation invites everyone to the table for the first-ever online conference dedicated to amplifying the voices of young metastatic breast cancer patients to end disparities on May 27, 29, and 30, 2020.

Three Day Event Convenes Patient Advocates, Healthcare Providers, Scientists, Policymakers, Industry Leaders, Faith and Grassroots Organizations and Influencers for a National Conversation to eliminate the disparity gap and Improve the Health Outcomes of African American Women.

Approximately 150,000 people in the U.S. have metastatic breast cancer (MBC) which is breast cancer that has spread beyond the breast to other organs in the body and is also known as stage 4 breast cancer. This terminal cancer has no known cure claiming nearly 40,000 lives a year for the last 20 years. Furthermore, African American women are diagnosed younger at later stages with more aggressive breast cancer types and have a 40% higher mortality rate. Yet, more than 60% of all women say they know little to nothing about MBC.

Tigerlily Foundations Young Womens MBC Advocate Now to Grow, Empower & Lead (ANGEL) program is at the forefront of the charge to transform the way women of color all over the nation interact with MBC patients, policymakers, providers and the scientific community. The MBC ANGEL program focuses on women of color who are disproportionately impacted by MBC yet often go underrepresented in clinical trials and the conversation on the unique needs of women living with MBC. MBC ANGELs education and advocacy program utilizes a three-pronged approach towards ending breast cancer disparities by engaging young women of color that are breast cancer survivors, living with metastatic breast cancer or community members that are committed to breast cancer advocacy, health care providers and policymakers in the 20 cities with the greatest breast cancer disparities.

This Womens Health Month, Tigerlily Foundation, is inviting everyone to the table for the first-ever #ListenUpMBC Confab on Young Women's Metastatic Breast Cancer Disparities on May 27, 29, and 30. Patients, caregivers, advocates, scientists, oncologists, industry leaders, policymakers, and social media influencers will gather online. This first of its kind three-day virtual event includes a Twitter 101 Lunch and Learn, #ListenUpMBC Confab, and Happy Hour which takes place during the American Society of Clinical Oncology (ASCO) 2020 Virtual Program. Due to COVID-19, this years ASCO program will now be online. Tigerlilys virtual Confab will amplify this years ASCO theme "Unite & Conquer: Accelerating Progress Together, by ensuring that patient advocates continue to have a place at the table at scientific, policy, healthcare and media forums related to MBC.

It is always a pleasure to connect with breast cancer advocates and thrivers. COVID-19 is bringing us together in solidarity. We have the tools now to improve patient outcomes. We now have lifesaving interventions. Everyone needs access to quality cancer risk assessment and genetic testing now and after this pandemic. We are using this crisis to gear up, to continue to support our patients, to find innovative ways to do our work, and to prepare the next generation for whatever is ahead, said, Dr. Olufunmilayo Olopade. Dr. Olopade is the 2017 ASCO Humanitarian Award recipient and is an internationally renowned breast cancer genetics expert with a specific focus on BRCA1 and BRCA2 mutations in women of African descent. The May 29 #ListenUpMBC Confab We Are Greater Than COVID-19 Keynote Conversation and Townhall will feature Dr. Olopade and cross-sector experts.

Tigerlily has also enlisted the support of celebrity chef and Food Network Star Chef Chris Kyler and celebrity DJ Brian Henry to close out the online activities by empowering people right from their living rooms with a virtual Happy Hour complete with sessions on breast cancer and beauty, stress management, a cooking and mixologist demonstration, and a dance party. Im honored to help patients who are at even greater risk right now, come together in a safe way were looking forward to having a great time with everyone, said Food Network Star Chef Chris Kyler.

Our 'MBC ANGELs' are a group of young women of color from across the U.S. who have committed to educating, empowering, and mobilizing their community against MBC. Today, living with MBC during this global pandemic, means they face compounded disparities even more, to overcome. Tigerlily is committed to ensuring that right now, more than ever, we gather online and raise our voices together. We will not be stopped by cancer or COVID-19 and are grateful for the outpouring of support weve received to make this initiative possible, said Maimah Karmo, President and Founder of Tigerlily Foundation.

"We are thankful to our partners, including Lilly Oncology, Daiichi-Sankyo, Pfizer, Seattle Genetics, Amgen, Merck, Immunomedics, Genentech, Bristol Myers Squibb, Q Mixers, Blue Henry, Drink Builder and The IRIS Collaborative for working with us on this critical initiative," Karmo added.

Speakers over this three-day event include: (in order of appearance)- Maimah Karmo, President & CEO, Tigerlily Foundation- Mia Keeys, MPH, Director of Health Equity Policy and Advocacy, American Medical Association- Shonta Chambers, M.S.W., Executive Vice President, Patient Advocate Foundation- Ricki Fairley, SVP, Sisters Network- Jamil Rivers, MBC ANGEL, Tigerlily Foundation; Board of Directors, Living Beyond Breast Cancer- Christine Hodgdon & Julia Maues, GRASP- Jasmine Souers & Marissa Thomas, Co-Founders, For the Breast of Us- Funmi Olopade, MD, FACP, Walter L. Palmer Distinguished Service Professor of Medicine and Human Genetics Director, Center for Clinical Cancer Genetics & Global Health, The University of Chicago Medicine- Lori Wilson, MD, FACS, Division Chief of Surgical Oncology, Howard University, MBC ANGEL Advisor- Shonte Drakeford, RN, CRNP MBC ANGEL Advisor, Tigerlily Foundation- Rev. Dr. Sheron Patterson, M.T.S., D.Min, Senior Pastor, The Park- Craig Lipset, MPH, Advisor & Founder, Clinical Innovation Partners- Conrad Tucker, Ph.D., Arthur Hamerschlag Career Development Professor, Mechanical Engineering Courtesy Appointment, Machine Learning, Carnegie Mellon University- Zora Asberry, TV Personality- Regina Hampton, MD, FACS, Medical Director, Doctors Community Hospital; Co-Founder & CMO, Cherry Blossom Intimates- Jasmine Jones, Founder & COO, Cherry Blossom Intimates- Natalie Lewis, Destinae Wellness- Nikkia Blakey, President, Champion Promise Foundation- Chef Chris Kyler, Food Network Star- Shyrea Thompson, Founder & Principal, The IRIS Collaborative- Gerard Bonner, Founder, Bonnerfide Radio- Kevin Reid, Mixologist & Founder, Drink Builder- Falasha Zuend, Public Health Goals- DJ Brian Henry, Beats to Beat Breast Cancer

About Tigerlily FoundationTigerlily Foundation is a leading national breast cancer organization whose mission is to educate, empower, support, and advocate for young women ages 15 to 45 before, during, and after breast cancer. Tigerlily Foundation is dedicated to ending disparities of age, stage and color. The organization works with hundreds of volunteers nationwide, providing breast health, wellness, and transformational programs to young women nationally. To learn more, visit http://tigerlilyfoundation.org. Follow @TigerlilyCares and share #ListenUpMBC

Contact Information:Tigerlily FoundationMamah Karmo888-580-6253Contact via Emailwww.tigerlilyfoundation.org

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Tigerlily Foundation Will Host Virtual #ListenUpMBC Confab on Young Women's Metastatic Breast Cancer Disparities During Women's Health Month -...

Genome sequencing, big data and artificial intelligence are helping doctors to better understand, treat and hopefully beat Covid-19.

The global scientific response to the novel coronavirus pandemic, which so far has killed over 328,000 people worldwide, is unprecedented. On 10 January 2020, nine days after the first cases of suspected Covid-19 were identified, the first genome sequence of the virus was shared publicly. Since then, tens of thousands of samples have been sequenced.

Genomics, which is concerned with the genetic material of an organism, is one of the most promising areas of research for Covid-19. By unlocking the virus genetic code and that of the most severely affected hosts the patients experts hope to better inform public health decisions and find effective treatments.

Working to this end is the 20m UK government-funded Cog UK research consortium, which consolidates the resources of the highly regarded Sanger Institute, the NHS and leading universities. The alliance has already sequenced over 16,000 viral samples from patients with confirmed cases of Covid-19.

Detailed analysis of sequenced viral samples of Covid-19 can identify small changes in the virus as it passes through the population which can then be used to track its spread.

As a virus replicates itself in different hosts, it accumulates small typos in its code called mutations. While the vast majority of mutations are not functional, by identifying them in different viral samples we can track and trace the infections spread locally and from one to another, explains Emma Hodcroft, a post-doctoral researcher at the University of Basel in Switzerland.

If two samples have the same typos, it means they probably come from a parent virus that also has these typos, and so can be identified as more closely related or from the same infection chain, she adds.

Hodcroft is currently working on Nextstrain, a SARS-CoV-2 open-source project that provides a continually updated view of publicly available genome-sequencing data, alongside analytic and visualisation tools. From across the globe, nearly 20,000 sequences have been uploaded to the Global Initiative on Sharing All Influenza Data (GISAID), including some from Cog-UK. Researchers at Nextstrain are using this data to create a family tree of the virus spread.

From the first few sequences, we could identify similarities and confidently say these viruses had emerged very recently, within the past couple of months, in China. The genetics then led us to cases in other countries directly related to those Chinese samples, explains Hodcroft.

Because of the fast sharing of data, we are providing a real-time look at the pandemic, in a way previously not possible. I really hope this will transform how we can track other diseases in the future, she adds.

This underlying approach of using the genome of a pathogen to understand how it spreads, called genomic epidemiology, was pioneered during the AIDSepidemic in the 1990s and has expanded to other pathogens such as influenza. The falling cost of the sequencing technology has made it increasingly more accessible.

Dr Lauren Cowley, prize fellow of bioinformatics at the Department of Biology and Biochemistry at the University of Bath, used this tracing method in 2015 to track the spread of Ebola in Guinea. Using portable sequencing technology by Oxford Nanopore Technologies, called MinION, Cowley and her colleagues could determine the relatedness of samples from patients.

Roughly every two weeks the Ebola virus changes something in its genome, therefore if two samples had exactly the same sequence, then we would know they were likely part of the same transmission chain, explains Cowley.

This helped epidemiologists track whether a transmission chain was contained or whether more people were at risk and if there were contacts of the patients that needed to be monitored for symptom development.

Similarly, in its first public update at the end of March, Cog-UK said it had identified 12 viral lineages in the initial 260 viral genomes it sequenced, suggesting independent introductions ofCovid-19 to the UK coming from areas with large epidemics and high travel volumes, notably Italy and other parts of Europe.

Hodcroft says this technology will become particularly useful for informing public health decisions towards the end of the pandemic.

If we can determine new cases in a city are from local transmission, it tells us current measures are not working because the virus is spreading locally again. However, if it shows new cases are imported, then we know we need to be careful about people travelling from other areas. This is important when trying to understand how much to loosen restrictions on the public or to find weaknesses in your strategy, she explains.

Its hoped the research ongoing at the Cog UK consortium, which Hodcroft says is "above and beyond what any other country is doing", along with anti-body testing just approved by Public Health England, will help the government better understand infection among the UK population, down to individual transmission chains.

A characteristic of coronavirus that has healthcare professionals puzzled is why certain people are more adversely affected than others. While this could be explained by many factors, theres a hypothesis that mutations in a persons genetics could affect how they react to the disease and their chances of surviving it.

Everybody has a human genome in every single cell, and by and large, the code is the same, apart from some sporadic mutations. These change parts of the genome; some are incredibly rare and others very common.

We don't know how much of the variation in Covid-19 outcomes are driven by common genetic effects, some of which may be acting through frequently seen comorbidities (like diabetes or cardiovascular disease); or by rarer mutations, which predispose people to poor outcomes possibly related to different immune responses or uncontrolled inflammatory events, explains Professor Nicholas Timpson, a Professor of Genetic Epidemiology at Bristol University and a Wellcome Trust Investigator.

Timpson works on the University of Bristols Children of the '90s study, which has been collecting "everything from toenails and teeth" from a cohort ofchildren since birth. Timpson and his colleagues are now surveying participants about how they have been affected by Covid-19 and hope to use this information to assist ongoing medical research into the disease.

For example, weve been measuring respiratory health in participants for decades, so were in a very special position because we can bring retrospective data forward into the analysis; past healthcare trajectory could be extremely important in understanding who gets better from Covid-19 and who is badly affected, he says.

Similarly, consumer genetics testing and analysis company 23andMe has enrolled more than half a million of its customers onto a study to find potential genetic associations related to severity of coronavirus symptoms. The company will be studying de-identified, aggregate genetic information alongside answers to survey questions on experience with Covid-19 symptoms to get a fuller picture of potential correlations.

Identifying these genetic markers could help target the development of specific treatments and vaccines for coronavirus. Timpson, however, says this can be difficult because, unlike rare and specific changes in genomes, there may be a common variation that affects a significant chunk of the population, but its actual impact, though very real, is very small.

However, technology, such as artificial intelligence (AI) and machine learning can help speed-up this analysis, especially when working with sequenced genomes, which produce huge amounts of data.

Measuring the entire genome and working in a data-driven way, rather than generating hypotheses about which genes would be involved in which diseases, can be more efficient, says Timpson.

Swiss health-tech company SOPHiA GENETICS, which developed an AI-based platform that precisely analyses raw genome data to help clinicians better diagnose patients, is working in this way with its partner Paragon Genomics to help researchers make genetic discoveries related to Covid-19 outcomes.

The company wants to create a multi-modal approach to predict outcomes and tailor therapeutic approaches.

Using the genome of the virus and the host, combined with data about how the patient was treated and what happened to them, the SOPHiA platform could identify patterns by looking for a combination of data points to predict a patients clinical outcome and recommend treatments based on previous results of other patients with similar signatures, explains Dr Philippe Menu, chief medical officer atSOPHiAGENETICS.

The platform is already trained to do this for lung cancer patients using analysis of CT scans, known as radiomics, and other clinical data. For coronavirus, it could be used to triage patients better. The vision is to develop an optimised predictive score across genomics, radiomics and clinical data, that help doctors predict the most likely Covid-19 disease evolution at time of diagnosis and tailor therapeutic interventions accordingly, says Menu.

The platform is currently going through a validation phase for sequencing the whole viral genome. Once there is enough data, it will start looking for variations across viral samples. To pursue the multimodal analysis, Menu says the company is in discussions with different centres.

Similarly, in only a matter of weeks, AI-based drug-discovery company BenevolentAI used its machine-learning platform to identify a potential drug to treat some Covid-19 patients.

Using a biomedical Knowledge Graph it had curated over the past five years, researchers assessed potential treatments that could specifically inhibit the cellular processes the virus uses to infect human cells and reduce inflammatory damage. The predictive tools identified an existing rheumatoid arthritis pill, baricitinib, as a potential treatment. The drug is now being trialled by Eli Lilly.

In April, NHSX, the technology arm of the NHS, announced it was establishing a centralised UK repository of chest X-ray, CT and MRI images for use by AI applications to improve the understanding of Covid-19 and support treatment of the disease.

Zegami, an Oxford University spin-out, has developed a new machine-learning radiomics model on its AI platform that hopes to use these images to help radiologists more quickly identify coronavirus cases and provide better treatment outcomes by learning from past successes.

Doug Lawrence, a data scientist at Zegami who has been training the platform, says it has already shown 70-75 per cent proficiency in identifying coronavirus cases apart from images of viral and bacterial pneumonia, as well as images of healthy lungs, using a limited dataset of 226 Covid-19 infected lung images.

A tool that can filter people into a high or lower risk bracket, even at only 70 per cent accuracy, is still very useful in saving radiologists time, he says.

The longer-term ambition of the company, however, is to receive anonymous information about the treatment plan and outcome for each patient image.

If we had data about people in intensive care or who were treated with specific antibiotics, the platform could predict potential outcomes and recommend treatments based on this data, says Stephen Taylor, co-founder of Zegami and chief scientific officer. Its about binding the metadata with the image to give doctors more confidence in treatment and diagnosis.

But Taylor says the nature of the platform means it could be easily used to explore a range of hypothesis.

There's a whole bunch of characteristics you can measure, I think this provides a simple and easy-to-use interface from which its possible to investigate different parameters without doing lots of coding putting this tool in the hands of non-data scientists is very powerful because they can come up with interesting hypotheses and then test them, says Taylor.

Zegami has applied to NHSX for chest X-ray images, which it is hoping to receive soon.

While a vaccine for the novel coronavirus is still in development, there is hope that the throng of ongoing research can help with the management and treatment of the virus in the interim. In fact, there is a clear race to make discoveries and provide healthcare professionals with new tools. It will be interesting to see whois successful first.

One thing is certain though: the rapid rate of research, cross-border collaboration and fast deployment of technologies are among the few positives to emerge from the coronavirus crisis.

Health study

If you were born in or around Bristol in 1991 or 1992, then you could have been part ofChildren of the 90s health study.

It doesn't matter if you stopped taking part years ago, your data is important and you can re-join the study at any time.

To find out if you were involved in the study please text your full name and date of birth to 07772 909090 or visit childrenofthe90s.ac.uk

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Covid-19 versus genomics and other advanced technologies - E&T Magazine

The new cosmic fear produced by COVID-19 has become a great challenge for mankind. The process of overcoming it is connected to a large extent with the establishment of effective cosmopolitan solidarity and humanely-oriented global medical surveillance with the aim of working out effective means to prevent fake news that traumatise the social consciousness, writes Sergey Kravchenko, Head of the Department of Sociology at MGIMO University.

According to Ulrich Beck, the global risks of the World Risk Society have the following three characteristic features: 1) delocalisation (their causes are not limited to one geographic location); 2) incalculability (their consequences are in principle incalculable); 3) non-compensability (human genetics makes possible irreversible interventions in human existence). All these features are seen in the risks of COVID-19 and they have even increased and become more complex. Thus, the delocalisation concerns not only the geographic location but also bio space: some scientists point to the proliferation of viruses that can move from animal to humans and back, making illnesses more difficult to cure. The incalculability has redoubled due to the fact that there are no commonly recognised methods to estimate them. Besides, we have to make do not only with the damage produced by real viruses but with the one made by their mystifications. I mean that many risks of COVID-19 are socially and culturally constructed; a lot of myths and fake news have appeared about their influence. The whole of humanity is observing the deaths of many people in real time. Some viewers may not even realise that their consciousness is being traumatised very often they accept exaggerated news as real that increases the effects of liquid fear (Bauman), which is now becoming global in nature. This blurs the distinction between the risks of COVID-19 and the cultural perception of them. The non-compensability depends not only on irreversible interventions in human body but on the incurable traumas of humanness and substantial rationality; the life-worlds of people.

At first sight, it seems the recognition of the complex risks posed by COVID-19 might lead to a kind of post-national sense of responsibility, give a start for elaborating a humanely oriented global system of medical surveillance, which is aimed at preventing different epidemics. Some political leaders argue that the consequences of the pandemic might unite the human inhabitants of the Earth after their years of confrontations.

However, the real picture is the reverse. In Europe and throughout the world, one can see disintegration, isolation, and even the rise of nationalism and xenophobia. The declared European values do not function. Reaction to risks presupposes decisions and actions. For Italians, the risks posed by COVID-19 are more important than other threats. Consequently, they expect the help from the European Union, but the organisation is paralysed and does not make decisions rendering the necessary medical, financial and monetary support. The difference in interests of practically all the countries of the European Union is evident. They do not only close their borders on quasi-laws but apply to a national mobilisation, stop the social and medical cooperation which is very acute for the management of the new global risks. Nothing is done to overcome the myths of the pandemic. Moreover, new enclaves with sick people have appeared.

At the same time, I believe that this tragic situation will not last forever, and we should think about the post-COVID-19 world. Here are some glimpses at the possible hopes and the visions of the future world. The consequences of the pandemic have not produced simply the growth of world disorder. The common challenges to humanity may foster the establishment of a completely new world order based on cosmopolitan ethics and solidarity. Certainly, the realisation of this depends on peoples agency, and the concrete humanely oriented deeds of the political leaders. A good example of it is Vladimir Putins idea to make humanitarian corridors. In order to realise this, Russia has already rendered medical help to China, Italy, the USA, and Serbia.

The countries and their elites have reacted differently to the risks of COVID-19, with positive and negative results. This will influence the characteristic features of the futures of these nations. Undoubtedly, in the nearest future, there will appear new political movements with demands for global medical surveillance and health security. Consequently, new leaders will come to power. Whether Vladimir Putin and Donald Trump are among them depends on the results of the struggle against COVID-19 and the effect of the pandemic on their countries. The challenges of the pandemic will change the essence of Europe as a turbulent and mighty continent. In order to limit the existing turbulence and achieve sustainable development, the new political leaders will pass over from confrontations to different forms of cooperation with a diverse array of actors on the world stage. It is highly likely that in the renewed European Union, China, which displayed achievements in overcoming the pandemics and rendered concrete support to different countries, will acquire a special friendly status. Consequently, there are basic grounds for re-establishing good political and economic relations between the West and Russia.

Certainly, the birth of the post-COVID-19 world will be difficult, perhaps, accompanied by a recession which, however, may become a significant factor of the new world order based on sharing economy, social solidarity and integral forms of freedom and disciplinary. I believe the fetishism of modesty in the consumption is being born. There have already appeared collective forms of consumption not only the sharing of cars, places of living but food and medicine sharing.

There are some trends toward the achievement of social justice and equality in the organisation of medical help. During the pandemic, the Norwegian authorities have done a lot in constructing the possibilities for all the people to have proper access to medical care. These practices might be developed in other countries. The significance of social insurance would be revised. Its high organisation in Germany helped to save the lives of many more patients if we compare it with other countries. The distant care systems based on digitalisation have proved their efficiency these activities should be extended.

It is necessary to re-discover the place and role of nations in world politics. In addition to the existing criteria (economic development, the possession of weaponry, etc.), new ones should be taken into consideration the power to effectively struggle with epidemics, to produce ecological and pharmacological safety for citizens, the possibility to re-orient the digital, from pragmatic consumerism to health care. Human rights should be extended, including the right to health care, safety, and a friendly environment.

The new cosmic fear produced by COVID-19 has become a great challenge to mankind. The process of overcoming it is connected to a large extent with the establishment of effective cosmopolitan solidarity and global humanely-oriented medical surveillance, with the aim to work out effective means to prevent fakes that traumatise the social consciousness. All these prepositions might make the emerging post-COVID-19 world more rational and humane.

See more here:
COVID-19 Pandemic: Global Risks of More Complex Character and the Visions of the Future World - Valdai Discussion Club

In April the company, based in Sunnyvale, California, sent covid-19 questionnaires out to a swath of its members. So far, says a company spokesman, about 400,000 have enrolled, including 6,000 who say they have confirmed cases of the pandemic disease.

The 23andMe gene hunt will complement efforts from university researchers to obtain genetic profiles of covid-19 cases and pair them with detailed medical records, says Andrea Ganna, who coordinates the Covid-19 Host Genetic Initiative. The international consortium is sharing genetic data on covid-19 cases from Italy, the UK, and the US and regularly making results public.

Scientists hope to find a gene that strongly influences, or even determines, how badly people are affected by the coronavirus. There are well-known examples of such genetic effects on other diseases: for example, sickle-cell genes confer resistance to malaria, and variants of other genes are known to protect people from HIV or to norovirus, an intestinal germ.

According to Ganna, however, an initial peek at the genes of 900 covid-19 cases turned up no significant genetic hits. His consortium is now preparing an analysis of twice as many cases, which could improve their chance of spotting an association.

If we dont find a really big signal in the next month or so, then I think genetics is not going to be of huge value in the management of the disease, like determining who you treat, he says. What is still very, very important is the biology, and understanding the biology through the genetics, and then with vaccination.

In its first survey, 23andMe asked customers if theyd been diagnosed with covid-19 or not. However, the company is now trying to locate patients who were hospitalized and recovered, because their genes are more likely to hold important information.

Researchers have already speculated that blood type could influence a persons version of ACE-2, the protein the coronavirus uses to fuse with human cells and gain access to them. But preliminary findings have not yet been borne out by the larger gene hunts.

The gene search is part of the scientific effort to move to more targeted ways of managing the pandemic, which some are calling precision epidemiology. In addition to 23ndMe, the DNA testing company Ancestry said it had received 250,000 responses in its own covid-19 project.

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The secret to why some people get so sick from covid could lie in their genes - MIT Technology Review