Category Archives: Human Genetics

Since I started working as a geneticist in the early 1960s, the field has changed considerably. James Watson, Francis Crick, and Maurice Wilkins won the 1962 Nobel Prize in physiology or medicine for their discovery of the double helix structure of DNA. Researchers then cracked the genetic code, which held promise for fields like health and medicine. It was an exciting time to be working in the lab.

More than 40 years later, in 2003, an international group of scientists sequenced the entire human genetic code. Researchers can now find a gene suspected to cause a disease in a matter of days, a process that took years before the Human Genome Project. As of 2013, more than 2,000 genetic tests were available for human conditions. Forty years ago, I never dreamed scientists would have the knowledge and manipulative capabilities that have become standard practice today.

In a couple of decades, genetics has allowed for systematic inventorying of the worlds biodiversity. Canadas Centre for Biodiversity Genomics at the University of Guelph has the genomes of more than 265,000 named species identified with barcodes in its database. The cost to analyze a sample against this free public database is about $10. Cost reductions and digital communication allow citizen scientists to utilize an enormous storehouse of information.

Young citizen scientists in San Diego were recently able to help compile information about the areas biodiversity through their local libraries. Kids signed out genetic-testing kitswhich included sampling vials, tweezers, and a return bagthrough Catalog of Life @ the Library. They then uploaded photos and locations of their finds using a LifeScanner app or website. Its part of an effort to collect 4,000 samples of local bug life. After returning kits to the library, the young scientists could go online to see and compare the genetic barcodes of their discoveries.

According to the library: Only an estimated 20 percent of species on Earth have been identified by their DNA barcode. The San Diego program is part of Barcode of Life, which has the ambitious goal of identifying all life on Earth to help researchers understand the diversity of species, monitor the health of the environment and the impacts of climate change. Canadas Centre for Biodiversity Genomics is doing the genetic sequencing.

People in Canada can also help identify seafood fraud with the LifeScanner service. Genetic testing helps consumers identify the species and possibly origin of fish they buy important for people who care about sustainability and health and nutrition.

Identifying and tracing seafood has long been a challenge, especially because about 40 percent of wild-caught seafood is traded internationallyand labelling is often inadequate. Once fish are skinned, cleaned, and packaged, its not always easy to tell what they are. If you buy something labelled rockfish in Canada, it could be one of more than 100 species. Often, labels dont indicate whether the fish were caught or processed sustainably. Although the European Union and U.S. require more information on seafood labels than Canada, one study found 41 percent of U.S. seafood is mislabelled.

A European study found stronger policies combined with public information led to less mislabelling. People in Canada have demanded better legislation to trace seafood products. More than 12,000 people recently sent letters to government asking for better labelling.

SeaChoice (the David Suzuki Foundation is a member) is working with LifeScanner to register 300 people in Canada to test seafood, in part to determine whether labels are accurate. Participants will get testing kits, buy seafood, collect data and images, and return samples in a provided envelope. Samples will be analyzed and coded, with results posted online.

With the help of citizen scientists, genetic testing can offer a powerful approach to righting environmental wrongs. Combining crowd-sourced scientific data, public-policy reform, and consumer activism is already showing positive results. The same approach could work in areas such as testing for antibiotics, pesticide, and mercury residues and more.

DNA Day is celebrated in Canada on April 21 and the U.S. on April 25 to commemorate the completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. Weve come a long way since then, but we still have much to learn. Citizen scientists are helping!

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David Suzuki: Citizen science and genetic testing yield positive ... - Straight.com

Fruit flies may be the bane of a clean kitchen, but for the last century, these little bugs have been a staple in genetics labs. Easy to keep and quick to reproduce, fruit flies have helped scientists understand how genes are carried from one generation to the next and, importantly, how those genes can be influenced over time. And with about the same number of genes as humans, they're extremely helpful in helping scientists understand more about human genetics.

Neuroscientist Eric Hoopfer of California Institute of Technology in Pasadena is studying how fruit flies battle one another. No, it isn't to learn more about how humans can become stronger fighters, rather it's to learn how we process things like aggression and depression.

KQED Science reports:

Flies when they fight, they fight at different intensities. And once they start fighting they continue fighting for a while; this state persists. These are all things that are similar to (human) emotional states, said Hoopfer. For example, theres this scale of emotions where you can be a little bit annoyed and that can scale up to being very angry. If somebody cuts you off in traffic you might get angry and that lasts for a little while. So your emotion lasts longer than the initial stimulus.

Circuits in our brains that make us stay mad, for example, could hold the key to developing better treatments for mental illness.

This fascinating video explains how stimulating the same neurons at different intensities can spark either fighting or flirting. The fact that the same stimulus can bring out such different behaviors is one of keen interest to researchers. The information can open up a deeper understanding of the social behaviors of people.

If you're wondering why we might want to know so much more about seemingly basic behaviors, Dr. David J. Anderson, who oversees Hoopfer's lab, reminds us: "Given the public health problem posed by violence, it is surprising how little we know about the brain mechanisms that control aggression... If we wish to solve the pressing problems of violence that plague our Society, it is essential to understand the basic brain mechanisms that control aggressive behavior."

Fruit flies, whether aggressive or amorous, are giving us the opportunity to dive deep into the way the brain works when it comes to emotions.

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What fruit flies can tell us about human emotion - Mother Nature Network

CHICAGO Smithfield Foods, the world's largest pork producer, has established a separate bioscience unit to expand its role in supplying pig parts for medical uses, with the ultimate goal of selling pig organs for transplantation into humans.

Routine pig-human organ transplants are years away, but recent scientific advances are breaking down barriers that frustrated prior attempts to use pigs as a ready supply of replacement parts for sick or injured people, making it an attractive new market.

"Our bread and butter has always been the bacon, sausage, fresh pork - very much a food-focused operation," Courtney Stanton, vice president of Smithfield's new bioscience unit, told Reuters in an exclusive interview.

We want to signal to the medical device and science communities that this is an area we're focused on - that we're not strictly packers," she said.

Smithfield, the $14 billion subsidiary of Chinas WH Group (0288.HK), in its first move has joined a public-private tissue engineering consortium funded by an $80 million grant from the U.S. Department of Defense. Smithfield is the only pork producer, joining health-care companies including Abbott Laboratories (ABT.N), Medtronic (MDT.N) and United Therapeutics Corp (UTHR.O).

Transplants are used for people diagnosed with organ failure and who have no other treatment options. Transplants from animals could help close a critical gap to help those in need. The United Network for Organ Sharing estimates that, on average, 22 people die each day while waiting for a transplant.

Smithfield already harvests materials for medical use from the 16 million hogs it slaughters each year. The company owns more than 51 percent of its farms and hopes to sell directly to researchers and health-care companies, which now typically buy from third parties.

Stanton said the U.S. market for pork byproducts used for medical, pet food and non-food purposes stands at more than $100 billion, and that excludes any potential market for animal-to-human transplants, known as xenotransplants.

Smithfield has deals in the works to supply pig organs to two entities, though Stanton would not disclose the names.

"It's just a huge potential space, and to be at the leading edge and focused on building those relationships is critical, she said.

HOG HEARTS

Pigs have long been a tantalizing source of transplants because their organs are so similar to humans. A hog heart at the time of slaughter, for example, is about the size of an adult human heart.

Other organs from pigs being researched for transplantation into humans include kidney, liver and lungs.

Prior efforts at pig-to-human transplants have failed because of genetic differences that caused organ rejection or viruses that posed an infection risk. Swiss drugmaker Novartis AG (NOVN.S) folded its $1 billion xenotransplantation effort in 2001 because of safety concerns about pig viruses that could be passed to humans.

George Church, a Harvard Medical School genetics professor and researcher, tackled that problem two years ago, using a new gene-editing tool known as CRISPR to trim away potentially harmful virus genes that have impeded the use of pig organs for transplants in humans.

Church has since formed a company named eGenesis Bio to develop humanized pigs that do not provoke a rejection response or transfer viruses to people. The company last month raised $38 million in venture funding.

Eventually, Church said, the process could enable researchers to harvest a dozen different organs and tissues from a single pig.

Church estimates the first transplants involving humanized pig organs could occur in a clinical trial later this year, but these would only be used on people too sick to receive human organs.

Genome pioneer Craig J. Venters Synthetic Genomics Inc has been working for two years with United Therapeutics on editing the pig genome and mixing in human cells to overcome the complex issues involved in immune rejection. "It's not like changing a couple genes and you've got it solved," Venter said.

Stanton would not rule out breeding genetically modified animals, but said Smithfield's first ventures will likely involve whole pig organs that go through decellularization - a process in which existing cells are washed away and replaced with human cells.

Miromatrix Medical Inc, of Eden Prairie, Minnesota, for example, is using whole pig livers to make a surgical mesh used in hernia repair and breast reconstruction, and it is working toward developing replacement livers, hearts and kidneys.

Church welcomes the involvement of a big pork producer. "Even though we've got companies like eGenesis that would make the first pigs, you still need someone who will breed them and do it to scale," he said.

(Reporting by Julie Steenhuysen and Michael Hirtzer; Editing by Leslie Adler)

CAPE CANAVERAL, Fla. A U.S. astronaut and two Russian cosmonauts made a parachute landing in Kazakhstan on Monday, wrapping up a nearly six-month mission aboard the International Space Station, a NASA TV broadcast showed.

LONDON Scientists will study the possibility of producing geothermal energy from magma for the first time, in a $100 million project in Iceland, which if successful could produce up to 10 times more energy than from a conventional well.

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Smithfield makes move on market for pig-human transplants - Reuters

wbur For people interested in testing their genes for predisposition to injury, Kim recommends buying a genetic test kit from 23andMe. (Karyn Miller-Medzon)

The consumer genetic testing company 23andMe can tell you about your ancestry. Now, it might also be able to tell you something about your future.

Federal regulators have given the company the go ahead to tell consumers directly if they're at higher risk for 10 different diseases, including late-onset Alzheimer and Parkinson's.

Genetic testing is a lot like your cholesterol test," says Anne Wojicki, CEO of 23andMe. "Your genetic information can tell you that you are potentially high risk for something. Just like a cholesterol test, but it doesnt mean youre definitely going to get it.

But critics say there are concerns about privacy, and the reliability of these tests.

Dr. Aubrey Milunsky, from the Center for Human Genetics in Cambridge, says that he is seeing patients come in with results from 23andMe, that he says are not necessarily "reliable or accurate in reference to the future."

"I see patients who constantly arrive here with a wad of paper of the results from 23andMe," says Milunsky, "saying that they don't understand what these results mean, they're extremely anxious about the potential implications."

Carey Goldberg, host of WBUR's CommonHealth blog.

This segment aired on April 10, 2017.

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FDA Approves Companies Telling Consumers Genetic Risks Associated With Diseases06:42 - WBUR

Students present their research projects during a poster session at the 2017 IdeaFest. This is the 25th year the event has been held. Morgan Matzen / The Volante

IdeaFest, an annual showcase of graduate and undergraduate student research, was held on Wednesday and Thursday for its 25th year at USD.

Wednesdays events included a poster session on the main and secondfloors of the Munster University Center where students posted their work for anyone interestedto interact with and ask questions.

Jeff Beck, a graduate student studying basic biomedical sciences, conducted research on twin genetics.

What we want to do is associate genetic information with that genotypic information that has been collected over time, Beck said. Weve created a microarray which is able to assess the genetic differences between individuals.

Beck said hes interested in research because he gets to see how humans are directly impacted instead ofusinganimal models to study human conditions.

The biggest thing for me is the opportunity of being able to study human genetics, Beck said. It takes out the common argument that a lot of people have against science is using animal models to associate their studies with humans. By studying humans directly, we can directly translate our findings into human conditions.

Sophomore health sciences major Jonni Buckman researched Sudden Infant Death Syndrome (SIDS) because of a personal connection. She said she joined IdeaFest for her class on diseases.

I did my research on SIDS because my grandma lost a baby to SIDS, and its a curiosity of mine because they still havent found a cause for it, Buckman said. I also chose it because Im Native American, and Native American babies are more likely to have it happen to them than any other race.

First-year Elena Freeman is triple-majoring in international studies, philosophy and French, and she chose to research commonalities in cross-cultural identity. Freeman conducted six interviews with completely different people for her study.

Our main goal was just to find people who were different from each other with as little similarities as possible, she said. We asked very open-ended questions that had to do with identity. We wanted to see through their stories how their experiences were transferred into their identity, and we wanted to see if there were any common themes through all the interviews.

Freeman found that openness was a common, positive trait as well as turning points and environment. She said she plans to make a documentary on the subject.

We found that each one throughout their life was more open to theidentities that theyve had, and each saw that openness was a positive trait in their growth in their identities, Freeman said. They each had turning points in their life where they would find a new aspect of their identity that they wanted to be dominant. Depending on where these people were and where the story took place, they would describe their identities differently.

Brennan Jordan, an Earth sciences associate professor, gave a lecture about Icelands unique geography, ecology and history as the keynote speaker in the MUC ballroom on Thursday.

Jordans research focused on the relationship between volcanoes and plate tectonics. Over the course of his career, Jordan has spent time in Iceland doing research.

Jordan teaches an Iceland Volcanology Field Camp course every summer, where he takes students from across the country to Iceland to study its unique geology and ecology.

In 2012, I started to develop a Volcanology Field Camp, Jordan said. Geologists, as they near the completion of their undergraduate degrees, often do an intensive field course called a geology field camp, and I have taught quite a few of those Including this year, I will have taken 134 students to Iceland over the years.

Jordans lecture, titled Iceland: From an Unsustainable Past to Sustainable Future, focused on Icelands history of sustainability. He explained how earlier in its history Iceland didnt have the sustainable practices its now famous for.

At one point, Jordan said, Iceland had up to 40 percent forest coverage, but deforestation has taken many of the trees. Now, Iceland hasonly about one percent forest coverage.

Iceland, when you encounter it today, you see this stark tree free landscape thats beautiful, but at the time that settlement occurred, it is estimated that 25 to 40 percent was covered by berch forest, Jordan said. Between that time and 1950, the forest dropped to as low as one percent or even half a percent.

Since then, Iceland has adopted many sustainable practices, Jordan said. Now, Iceland makes almost all its power from geothermal and hydro-electric power.

When people talk about Iceland as an example of a sustainable nation, energy is usually first and foremost on their minds, Jordan said. Nearly 100 percent of the electricity generation in Iceland is by renewable methods. Its basically by hydro-electric power and geothermal power.

Jordan ended the lecture with what he called a reality check.He tried to dispelcommon misconceptions about Icelands politics, history and culture.

With the center-right governments pretty pro-business perspective, the environment is pretty much constantly being threatened by new developments, Jordan said. In this sense, its not quite the politically progressive place we might think.

By Morgan Matzen and Clay Conover

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Students present novel concepts at IdeaFest - The Volante

Human Genetics Market Research Report Global Forecast to 2024

Human genetic market, by instruments (Accessories, Device), by end-user (Hospital, Clinic, Research center), by method (Prenatal, Molecular, cytogenetic, presymptomatic), by application (Forensic science institute) Global Forecast 2024

Human Genetics Market:

Genetics is the study of genes, their functions and their effects. Among the various types of genetics such as molecular genetics, developmental genetics, population genetics and quantitative genetics, human genetics is the study that deals with the inheritance occurs in human beings. It encompasses a variety of overlapping fields such as classical genetics, cytogenetic, molecular genetics, genomics and many more.

The study of human heredity occupies a central position in genetics. Much of this interest stems from a basic desire to know who humans are and why they are as they are. It can be useful as it can answer questions about human nature, understand the diseases and development of effective disease treatment, and understand genetics of human life. At a more practical level, an understanding of human heredity is of critical importance in the prediction, diagnosis, and treatment of diseases that have a genetic component.

Request a Sample Copy @ https://www.marketresearchfuture.com/sample_request/714

Key Players of Human Genetics Market:

Market Segmentation:

Major Human Genetics Market by Methods: Cytogenetic, Molecular, Presymptomatic and Prenatal.

Human Genetics Market by Product: Consumables, Devices and Accessories.

Human Genetics Market by Applications: Research, Diagnostic and Forensic Science and Others.

Human Genetics Market by End-Users: hospitals, clinics, research centers and forensic departments.

Human Genetics Market Growth Influencer:

The growth driver includes advancement of genetics testing technologies, rising genetic diseases, and rising awareness in terms of increasing knowledge about the potential benefits in genetic testing. Furthermore, aging population and increasing incidence of cancer cases are the other factors propelling growth of human genetics market.

The market for screening the newborns, diagnosing rare and fatal disorders, and predicting the probability of occurrence of abnormalities & diseases are likely to expand. Particularly, genetic tests to screen the newborns are expected to expand immensely over the coming years. Furthermore, the genetic disorders caused by microorganisms such Zika virus is one of the major concern behind of microcephaly. Microcephaly is a birth defect that is associated with a small head and incomplete brain development in newborns that transferred from mother to her child. Such, diseases are expected raise the application of the human genetic studies there by driving by the market. However, the high costing instruments and lack of experienced professionals are the major restraints for the growth of Human genetics market.

Access Report Details @ https://www.marketresearchfuture.com/reports/human-genetics-market

About Market Research Future:

At Market Research Future (MRFR), we enable our customers to unravel the complexity of various industries through our Cooked Research Report (CRR), Half-Cooked Research Reports (HCRR), Raw Research Reports (3R), Continuous-Feed Research (CFR), and Market Research & Consulting Services.

MRFR team have supreme objective to provide the optimum quality market research and intelligence services to our clients. Our market research studies by products, services, technologies, applications, end users, and market players for global, regional, and country level market segments, enable our clients to see more, know more, and do more, which help to answer all their most important questions.

Media Contact Company Name: Market Research Future Contact Person: Akash Anand Email: Send Email Phone: +1 646 845 9312 Address:Magarpatta Road, Hadapsar, Pune 411028 Maharashtra, India City: Pune State: Maharashtra Country: India Website: https://www.marketresearchfuture.com/reports/human-genetics-market

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Human Genetics Market Analysis and Global Forecast to 2024 ... - Press Release Rocket

"Human Genetics Market Research Report - Global Forecast to 2024"

Human genetic market, by instruments (Accessories, Device), by end-user (Hospital, Clinic, Research center), by method (Prenatal, Molecular, cytogenetic, presymptomatic), by application (Forensic science institute) - Global Forecast 2024

Human Genetics Market:

Genetics is the study of genes, their functions and their effects. Among the various types of genetics such as molecular genetics, developmental genetics, population genetics and quantitative genetics, human genetics is the study that deals with the inheritance occurs in human beings. It encompasses a variety of overlapping fields such as classical genetics, cytogenetic, molecular genetics, genomics and many more.

The study of human heredity occupies a central position in genetics. Much of this interest stems from a basic desire to know who humans are and why they are as they are. It can be useful as it can answer questions about human nature, understand the diseases and development of effective disease treatment, and understand genetics of human life. At a more practical level, an understanding of human heredity is of critical importance in the prediction, diagnosis, and treatment of diseases that have a genetic component.

Request a Sample Copy @ https://www.marketresearchfuture.com/sample_request/714

Key Players of Human Genetics Market:

Market Segmentation:

Major Human Genetics Market by Methods: Cytogenetic, Molecular, Presymptomatic and Prenatal.

Human Genetics Market by Product: Consumables, Devices and Accessories.

Human Genetics Market by Applications: Research, Diagnostic and Forensic Science and Others.

Human Genetics Market by End-Users: hospitals, clinics, research centers and forensic departments.

Human Genetics Market Growth Influencer:

The growth driver includes advancement of genetics testing technologies, rising genetic diseases, and rising awareness in terms of increasing knowledge about the potential benefits in genetic testing. Furthermore, aging population and increasing incidence of cancer cases are the other factors propelling growth of human genetics market.

The market for screening the newborns, diagnosing rare and fatal disorders, and predicting the probability of occurrence of abnormalities & diseases are likely to expand. Particularly, genetic tests to screen the newborns are expected to expand immensely over the coming years. Furthermore, the genetic disorders caused by microorganisms such Zika virus is one of the major concern behind of microcephaly. Microcephaly is a birth defect that is associated with a small head and incomplete brain development in newborns that transferred from mother to her child. Such, diseases are expected raise the application of the human genetic studies there by driving by the market. However, the high costing instruments and lack of experienced professionals are the major restraints for the growth of Human genetics market.

Access Report Details @ https://www.marketresearchfuture.com/reports/human-genetics-market

About Market Research Future:

At Market Research Future (MRFR), we enable our customers to unravel the complexity of various industries through our Cooked Research Report (CRR), Half-Cooked Research Reports (HCRR), Raw Research Reports (3R), Continuous-Feed Research (CFR), and Market Research & Consulting Services.

MRFR team have supreme objective to provide the optimum quality market research and intelligence services to our clients. Our market research studies by products, services, technologies, applications, end users, and market players for global, regional, and country level market segments, enable our clients to see more, know more, and do more, which help to answer all their most important questions.

Media Contact Company Name: Market Research Future Contact Person: Akash Anand Email: akash.anand@marketresearchfuture.com Phone: +1 646 845 9312 Address:Magarpatta Road, Hadapsar, Pune - 411028 Maharashtra, India City: Pune State: Maharashtra Country: India Website: https://www.marketresearchfuture.com/reports/human-genetics-market

Excerpt from:
Human Genetics Market Analysis and Global Forecast to 2024 ... - Digital Journal

Nana Kofi Acquah

The genomes of Africans and people of recent African descent house a huge amount of diversity that scientists have only begun to explore.

It took a public-health disaster for the Zimbabwean government to recognize the power of precision medicine. In 2015, the country switched from a standard three-drug cocktail for HIV to a single-pill combination therapy that was cheaper and easier for people to take every day. The new drug followed a World Health Organization recommendation to incorporate the antiretroviral drug efavirenz as a first-line therapy for public-health programmes. But as tens of thousands of Zimbabweans were put onto the drug, reports soon followed about people quitting it in droves.

Collen Masimirembwa, a geneticist and founding director of the African Institute of Biomedical Science and Technology in Harare, was not surprised. In 2007, he had shown that a gene variant carried by many Zimbabweans slows their ability to break down efavirenz1. For those with two copies of the variant about 20% of the population the drug accumulates in the bloodstream, leading to hallucinations, depression and suicidal tendencies. He had tried to communicate this to his government, but at the time efavirenz was not a staple of the country's HIV programme, and so the health ministry ignored his warnings.

Masimirembwa continued to publish his research, but the authorities took no heed until there was trouble. A lot of confusion could have been avoided if the government had listened, he says, It's not a bad drug. We just know it can be improved in Africa.

Masimirembwa is a rare breed. Although scientists worldwide have been pushing for ways to improve health care by tailoring diagnostics and treatment to the environment, lifestyle and genes of individual patients, few researchers have taken this precision-medicine approach in Africa.

That may be changing. In the past five years, international research-funding organizations have invested more than US$100 million in projects to boost genetic research on people in Africa. These studies could lead to improved treatments for Africans as well as for people of recent African descent in Europe and the Americas, who tend to experience more ill health than other ethnicities a situation that is often attributed to socioeconomic challenges, but which some scientists say could also have genetic roots.

Although few would question the importance of African genomics, opinions differ on whether this will translate into better care. Globally, precision medicine has failed to live up to its promise, even in countries that spend lots of money on health. And some argue that the money spent on investigating genes should instead be used to improve basic health care on the continent.

Many African scientists bristle at that simple calculus. They are frustrated that they have been left out of research on everything from health to human origins a field that has particularly benefited from African genome data and they want Africans to gain from the work. For Masimirembwa and others, the money presents an opportunity to take control of how genetic data are collected and used. Unless capacity is built on the continent, Africans won't have a chance to participate, he says.

There's a big problem, however. Precision medicine is expensive. For a continent that, for the most part, struggles to provide even basic health care, tailor-made treatments for individual patients may seem like an unaffordable luxury.

Enter 'precision public health' a new approach to precision medicine that bases health decisions on populations and communities rather than on individuals. It would use genomic insights into a country's population to inform general treatment programmes. For instance, a country might tweak its essential medicines list that specifies the drugs it buys in bulk at reduced rates from pharmaceutical companies, to avoid medicines that are known to cause problems in its population.

This is already happening in some places. Botswana a middle-income country stopped using the three-in-one drug containing efavirenz in 2016, opting instead for a newer and better-performing, but more expensive, drug called dolutegravir. The gene variant that causes problems with efavirenz is common in Botswana around 13.5% of the population has two copies of it. And in 2015, Ethiopia banned the use of the painkiller codeine, because a high proportion of people in the country carry a gene variant that causes them to rapidly convert the drug into morphine, which can cause breathing problems or even death.

Nana Kofi Acquah

Given the continents striking diversity, a one-size-fits-all approach to public health can lead to problems.

The precision public-health approach has great appeal for technology-savvy funding organizations that are eager to make a big impact on health. For instance, last October, the Bill & Melinda Gates Foundation and the Alliance for Accelerating Excellence in Science in Africa (AESA), a funding platform based in Nairobi, Kenya, held a precision public-health summit in Ethiopia's capital Addis Ababa. The European Commission is drawing up plans for a precision public-health initiative. And AESA, which is supported by global funders and African organizations, also plans to expand into precision public health.

But to fulfil this vision, a lot of research needs to be done on African genomes. Most genomic studies so far have focused on white people of European descent. A meta-analysis published in Nature last year2 revealed that only 3% of global genome-wide association studies which link genetic traits to patterns in health, disease or drug tolerance had been performed on Africans, compared with 81% on people of European ancestry.

An added challenge is that Africans are the most genetically varied people on Earth. Africa is where humanity originated and where humans have lived the longest, so populations there have diverged more than on other continents. Its people have genetic variants that are found nowhere else.

These two factors mean that scientists are missing a big piece of the puzzle when it comes to human genetics, says Charles Rotimi, founding director of the National Institutes of Health's Center for Research on Genomics and Global Health in Bethesda, Maryland. Tests developed to inform treatment options for white people might be unsuitable for Africans and people of recent African descent. We are in a position to make wrong diagnoses, he says.

Rotimi is one of the founders of the Human Heredity and Health in Africa (H3Africa) Initiative, created in 2010 by the London-based biomedical charity the Wellcome Trust and the US National Institutes of Health. Aiming to build genomics research capacity in Africa, the first round of the programme distributed $70 million to African scientists who teamed up with partners from the United States and Europe (see 'An evolving consortium'). A second round, worth around $64 million, is at the application stage.

Source: h3Africa

The research targets conundrums that have dogged clinicians for some time such as why Africans have a higher risk of developing chronic kidney disease, and do so at a younger age, than do white people. Nephrologist Dwomoa Adu at the University of Ghana Medical School in Accra, one of the principal investigators in the H3Africa Kidney Research Network, says there are no known environmental factors that explain this. But many Africans carry variants in the gene for apolipoprotein L1 (APOL1) that seem to confer an increased risk of developing kidney disease3. These variants have probably flourished in Africa because they confer resistance to trypanosomiasis, or sleeping sickness, a parasitic disease transmitted by the tsetse fly. But as life expectancy has increased in African countries, the incidence of kidney disease has risen markedly. And because there is little dialysis or kidney-transplant capacity on the continent, most people who develop the condition die, says Adu. It's a nightmare illness.

Adu's study is testing the link between the APOL1 gene and kidney disease in Africa at a greater sensitivity than previous studies. But being able to predict the disease with a gene test will be of little use in places where treatment is inaccessible. So Adu is also looking to understand the mechanism by which the gene causes disease, in the hope that this will lead to new, more-affordable, treatments. It might be possible to block the mechanism, he says.

Other H3Africa projects are looking for genetic clues to people's varying susceptibility to HIV progression, type 2 diabetes and stroke. One project is studying susceptibility to sleeping sickness. To find the genetic variations that might be causing this clinical diversity, H3Africa has created a chip for quickly assessing variation in Africans. Such chips act as a tool for genome-wide association studies by giving researchers a catalogue of variants called single nucleotide polymorphisms (SNPs) that could be linked to risk for a particular disease or drug reaction. So far, H3Africa has identified 2.7 million previously unrecorded SNPs, and many have made it onto the chip. Samples from the San a southern African indigenous group identified as the earliest genetic pool to split off from the rest of the human family tree have a particularly rich vein of new SNPs to study. We can't wait to explore them, says Nicola Mulder, a bioinformatician at the University of Cape Town in South Africa, who led work on the chip.

Although most of the H3Africa projects have yet to publish results, examples of the types of finding it might provide are starting to appear in the literature. For example, in March this year, Rotimi and his colleagues reported4 that about 1% of West Africans, African Americans and others of recent African ancestry carry a gene variant that increases their risk of obesity. And a collaboration between South African and Italian scientists resulted, also last month, in the identification of a genetic variant5 that seems to increase the carrier's risk of heart disease and cardiac arrest. The researchers identified the variant by studying a South African family that has been hit hard by the disease, whose members did not carry any gene variants previously associated with the illness. Although it is not known how common the variant is in South Africa, it could play a part in the high levels of heart disease seen in the country.

These insights could lead to better treatment for Africans and people of recent African descent, and perhaps result in discoveries about human genetics. We are all African beneath our skin, so understanding African genomes is going to be of global benefit, says Rotimi.

The attention that genomics research is getting in Africa has not been without critics. Cost is a major concern. Like most developing regions, Africa is seeing a rapid rise in non-communicable diseases such as cancer. In developed countries, cancer treatments are profoundly informed by genomics. But many African nations have only a handful of cancer specialists, and limited capacity for diagnosis and treatment. Although breast-cancer rates, for example, are lower in parts of Africa than in developed countries, more Africans die from the disease and not just because of a lack of access to care standard treatments sometimes seem less efficient in some African women. Still, basic cancer-therapy equipment may be higher on the wish list than new genomic tests tailored to African people's tumours. In April last year, for example, Uganda's only radiotherapy machine broke down, forcing people to travel to neighbouring Kenya for treatment, at their own cost.

There are those who think that projects such as H3Africa are over-stating the significance of the genetic variance between Africans and Europeans, and its effects on treatment options. Reinhard Hiller, director of the Centre for Proteomic and Genomic Research, a non-profit bioinformatics organization in Cape Town, is pleased that there is growing interest in African genomics. But he thinks that many genomic approaches, especially for treating cancer, can be applied to Africans now. A biopsy from a black woman's breast tumour can undergo the same analysis as that of a European's to look for the tell-tale genetic signs of its origin, he argues. And starting to do this, even on a small scale, might provide more informative data than focusing only on the differences, he says. We shouldn't try and prevent governments and societies in Africa from having access to cutting-edge solutions merely because they are deemed imperfect.

Insights from that could feed back to basic genomic research where outcomes warrant it. We have to be a lot more pragmatic and do whatever we can do now. If we don't get on with it we'll be sitting here in 50100 years still without answers.

His lab is one of the few in Africa that can do genomic sequencing. At the moment, most of its therapeutic work is for the private health sector in South Africa. But he's hopeful that genomic medicine can make it into the public sector. The main constraint, besides the cost, is the lack of technicians and counsellors, he says something that is also true in many wealthy countries, he adds.

But apart from the time it takes to do the research, the slow pace of government policy in Africa presents another stumbling block for the rollout of precision medicine. Masimirembwa's long-ignored advice on efavirenz in Zimbabwe is a case in point.

As it turns out, the three-in-one HIV drug that the country rolled out in 2015 works well in people who tolerate it. But differentiating those individuals from the 20% or so who will probably have a bad reaction is difficult. Masimirembwa and his colleagues developed a genetic test for the gene variant that makes carriers sensitive to the drug. This, he says, could be used to identify people who need to be given a lower dose of efavirenz something that he and his colleagues have determined decreases the risk of side effects while maintaining its efficacy. Last year he won a 500,000 rand ($39,000) commercialization grant from the South African government for his test. But he's up against the clock.

Zimbabwe's government, along with those in South Africa and Uganda, are considering going the same way as Botswana did, and ditching the efavirenz-based treatments entirely. Although the replacement drugs would not necessarily be any less effective, it would mean that Masimirembwa's test would no longer have a market a disappointing fate for his discovery.

But Masimirembwa thinks that there is still time to make good on his idea. It takes governments years to make decisions on public health, he says, and the new drugs might be unaffordable. And while the Zimbabwean government mulls over options, many HIV-positive people in the country still face a difficult choice: take the drugs that are available and experience serious side effects, or stop taking them and risk developing AIDS. There are second-line alternatives, but most patients are told to 'hang in there' to see if the side effects subside, he says. Few are offered different drugs.

One good thing has come out of the debacle so far: it has opened the government's eyes to the value of Masimirembwa's research. In February this year he was awarded a $15,000 national science award. Whilst there was initially poor acceptance of our findings, the current national and regional support is very encouraging for the future of genomic medicine, he says. And if his test makes it from the bench to the bedside, it will set a good precedent, he adds. We will have demonstrated that African scientists can take an idea from the lab to the market.

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How the genomics revolution could finally help Africa : Nature News ... - Nature.com

Stem cells help explain varied genetics behind rare neurologic disease Science Daily In the new study, published in The American Journal of Human Genetics, researchers used stem cells in their laboratory to simultaneously model different genetic scenarios that underlie neurologic disease. They identified individual and shared defects ...

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Stem cells help explain varied genetics behind rare neurologic disease - Science Daily

These are neural stem cells in the adult mouse hippocampus. Green: the stem cells and their progeny express protein. Magenta: the hippocampal stem cells generate newborn neurons. Blue: mature granule neurons. Credit: Department of Biomedicine, University of Basel

Researchers at Case Western Reserve University School of Medicine have successfully grown stem cells from children with a devastating neurological disease to help explain how different genetic backgrounds can cause common symptoms. The work sheds light on how certain brain disorders develop, and provides a framework for developing and testing new therapeutics. Medications that appear promising when exposed to the new cells could be precisely tailored to individual patients based on their genetic background.

In the new study, published in The American Journal of Human Genetics, researchers used stem cells in their laboratory to simultaneously model different genetic scenarios that underlie neurologic disease. They identified individual and shared defects in the cells that could inform treatment efforts.

The researchers developed programmable stem cells, called induced pluripotent stem cells, from 12 children with various forms of Pelizaeus-Merzbacher Disease, or PMD. The rare but often fatal genetic disease can be caused by one of hundreds of mutations in a gene critical to the proper production of nerve cell insulation, or myelin. Some children with PMD have missing, partial, duplicate, or even triplicate copies of this gene, while others have only a small mutation. With so many potential causes, researchers have been in desperate need of a way to accurately and efficiently model genetic diseases like PMD in human cells.

By recapitulating multiple stages of the disease in their laboratory, the researchers established a broad platform for testing new therapeutics at the molecular and cellular level. They were also able to link defects in brain cell function to patient genetics.

Stem cell technology allowed us to grow cells that make myelin in the laboratory directly from individual PMD patients. By studying a wide spectrum of patients, we found that there are distinct patient subgroups. This suggests that individual PMD patients may require different clinical treatment approaches, said Paul Tesar, PhD, study lead, Dr. Donald and Ruth Weber Goodman Professor of Innovative Therapeutics, and Associate Professor of Genetics and Genome Sciences at Case Western Reserve University School of Medicine.

The researchers watched in real-time as the patients stem cells matured in the laboratory. We leveraged the ability to access patient-specific brain cells to understand why these cells are dysfunctional. We found that a subset of patients exhibited an overt dysfunction in certain cellular stress pathways, said Zachary Nevin, first author of the study and MD/PhD student at Case Western Reserve University School of Medicine. We used the cells to create a screening platform that can test medications for the ability to restore cell function and myelin. Encouragingly, we identified molecules that could reverse some of the deficits. The promising finding provides proof-of-concept that medications that mend a patients cells in the laboratory could be advanced to clinical testing in the future.

The stem cell platform could also help other researchers study and classify genetic diseases with varied causes, particularly other neurologic disorders. Said Tesar, Neurological conditions present a unique challenge, since the disease-causing cells are locked away in patients brains and inaccessible to study. With these new patient-derived stem cells, we can now model disease symptoms in the laboratory and begin to understand ways to reverse them.

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A Stem Cell Platform for Accelerating Genetic Disease Research - Technology Networks