YHS Teacher Attends Genetics Workshop – Yankton Daily Press

Sanford Health and Harvard Medical School have collaborated to bring information and education about personal genetics and research to classrooms and communities in Massachusetts and South Dakota.

One such program the two facilities have created is the Personal Genetics Education Project (pgEd), which offers workshops that bring awareness and create community understanding about development in genetics and how they affect health.

Lindsay Kortan, who teaches ninth-grade physical science at Yankton High School (YHS), jumped at the chance to learn more about genetics by attending the pgEd Genetics and Social Justice Summer Institute in Brockton, Massachusetts this summer.

A member of the South Dakota Science Teachers Association, Kortan is also a Sanford ambassador and has done research with the organization for several years. It was through this involvement that she was invited to attend the weeklong pgEd conference.

"The setup was them showing (the attendees) their lesson plans, allowing us to experience what type of content is in the lesson and what kind of discussions/questions we might have in the classroom," she explained. "It covered a wide range of things, everything from the eugenics movement to ethics in genetics testing to personal genetics testing."

As someone who developed a strong interest in genetics through her studies at the University of South Dakota, all of this was right up Kortans alley.

"(Genetics) was one of my favorite topics to teach in a biology classroom," she said.

Prior to coming to YHS, Kortan had taught grades 10-12 science biology, physiology, physics and chemistry in the Bon Homme school district for five years.

She admitted that introducing what she learned at the conference into her current class will be difficult, but plans to spread her newfound information in other ways.

"Ive shared my knowledge with some of the other teachers and offered to help them incorporate it into their classrooms if theyre interested," she said.

She plans to be part of next summers workshop in Sioux Falls, which will be hosted by Sanford PROMISE and pgEd.

"From an education perspective, the pgED information is great for teaching our kids those critical-thinking and difficult life-decision questions they might have to encounter in their lifetime, especially now with the way genetic testing and technology is advancing," she said. "Its getting more prevalent in making decisions, even down to doctors looking at your genetic code to know what drugs they should prescribe to you, or whether the drug will be effective or not. Its important for kids to know that information before they get into those critical situations where they have to make an (important) decision. The process of going through that critical thinking and seeing different viewpoints is always a good thing in the classroom.

"Im currently pregnant, so some of those genetic questions that you get asked because of pregnancy and fertility treatments (that) I received really brought it to a personal level for me."

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YHS Teacher Attends Genetics Workshop - Yankton Daily Press

To Protect Genetic Privacy, Encrypt Your DNA – WIRED

In 2007, DNA pioneer James Watson became the first person to have his entire genome sequencedmaking all of his 6 billion base pairs publicly available for research. Well, almost all of them. He left one spot blank, on the long arm of chromosome 19, where a gene called APOE lives. Certain variations in APOE increase your chances of developing Alzheimers, and Watson wanted to keep that information private.

Except it wasnt. Researchers quickly pointed out you could predict Watsons APOE variant based on signatures in the surrounding DNA. They didnt actually do it, but database managers wasted no time in redacting another two million base pairs surrounding the APOE gene.

This is the dilemma at the heart of precision medicine: It requires people to give up some of their privacy in service of the greater scientific good. To completely eliminate the risk of outing an individual based on their DNA records, youd have to strip it of the same identifying details that make it scientifically useful. But now, computer scientists and mathematicians are working toward an alternative solution. Instead of stripping genomic data, theyre encrypting it.

Gill Bejerano leads a developmental biology lab at Stanford that investigates the genetic roots of human disease. In 2013, when he realized he needed more genomic data, his lab joined Stanford Hospitals Pediatrics Departmentan arduous process that required extensive vetting and training of all his staff and equipment. This is how most institutions solve the privacy perils of data sharing. They limit who can access all the genomes in their possession to a trusted few, and only share obfuscated summary statistics more widely.

So when Bejerano found himself sitting in on a faculty talk given by Dan Boneh, head of the applied cryptography group at Stanford, he was struck with an idea. He scribbled down a mathematical formula for one of the genetic computations he uses often in his work. Afterward, he approached Boneh and showed it to him. Could you compute these outputs without knowing the inputs? he asked. Sure, said Boneh.

Last week, Bejerano and Boneh published a paper in Science that did just that. Using a cryptographic genome cloaking method, the scientists were able to do things like identify responsible mutations in groups of patients with rare diseases and compare groups of patients at two medical centers to find shared mutations associated with shared symptoms, all while keeping 97 percent of each participants unique genetic information completely hidden. They accomplished this by converting variations in each genome into a linear series of values. That allowed them to conduct any analyses they needed while only revealing genes relevant to that particular investigation.

Just like programs have bugs, people have bugs, says Bejerano. Finding disease-causing genetic traits is a lot like spotting flaws in computer code. You have to compare code that works to code that doesnt. But genetic data is much more sensitive, and people (rightly) worry that it might be used against them by insurers, or even stolen by hackers. If a patient held the cryptographic key to their data, they could get a valuable medical diagnosis while not exposing the rest of their genome to outside threats. You can make rules about not discriminating on the basis of genetics, or you can provide technology where you cant discriminate against people even if you wanted to, says Bejerano. Thats a much stronger statement.

The National Institutes of Health have been working toward such a technology since reidentification researchers first began connecting the dots in anonymous genomics data. In 2010, the agency founded a national center for Integrating Data for Analysis, Anonymization and Sharing housed on the campus of UC San Diego. And since 2015, iDash has been funding annual competitions to develop privacy-preserving genomics protocols. Another promising approach iDash has supported is something called fully homomorphic encryption, which allows users to run any computation they want on totally encrypted data without losing years of computing time.

Kristen Lauter, head of cryptography research at Microsoft, focuses on this form of encryption, and her team has taken home the iDash prize two years running. Critically, the method encodes the data in such a way that scientists dont lose the flexibility to perform medically useful genetic tests. Unlike previous encryption schemes, Lauters tool preserves the underlying mathematical structure of the data. That allows computers to do the math that delivers genetic diagnoses, for example, on totally encrypted data. Scientists get a key to decode the final results, but they never see the source.

This is extra important as more and more genetic data moves off local servers and into the cloud. The NIH lets users download human genomic data from its repositories, and in 2014, the agency started letting people store and analyze that data in private or commercial cloud environments. But under NIHs policy, its the scientists using the datanot the cloud service providerresponsible with ensuring its security. Cloud providers can get hacked, or subpoenaed by law enforcement, something researchers have no control over. That is, unless theres a viable encryption for data stored in the cloud.

If we dont think about it now, in five to 10 years a lot peoples genomic information will be used in ways they did not intend, says Lauter. But encryption is a funny technology to work with, she says. One that requires building trust between researchers and consumers. You can propose any crazy encryption you want and say its secure. Why should anyone believe you?

Thats where federal review comes in. In July, Lauters group, along with researchers from IBM and academic institutions around the world launched a process to standardize homomorphic encryption protocols. The National Institute for Standards and Technology will now begin reviewing draft standards and collecting public comments. If all goes well, genomics researchers and privacy advocates might finally have something they can agree on.

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To Protect Genetic Privacy, Encrypt Your DNA - WIRED

Trying to Find a Healthy Diet? Look to Your Genes – NBCNews.com

The latest trend in nutrition isn't a fad diet or newly discovered supplement; it's your DNA.

Unlocking the secrets of one's genetic code used to be confined to the laboratory, but increasingly, the big business of DNA is now going after your eating habits. Thanks to new research in a field of study called nutrigenomics, scientists are learning how variations in our genes determine how well our bodies metabolize certain foods and nutrients.

For example, people with a variation of the CYP1A2 gene metabolize caffeine more slowly, and are at an increased risk of heart attack and hypertension if they drink more than a couple of cups of coffee a day.

Companies like the genetic testing service 23andMe helped pave the way for genotyping the process of determining variations in a person's genes to go mainstream. The California-based company has genotyped more than 2 million customers, though their testing focuses on genetic health risks and ancestry reports.

Now, more and more genetics startups are getting into nutrition: looking at how information in your genes could help people decide the best food to eat to feel good and even lose weight.

Scientists from the University of Toronto launched biotechnology company Nutrigenomix in 2012. The company offers genotyping test kits that look at 45 genetic markers related to genes for issues like weight loss, heart health, and food intolerances. The test is designed to help medical professionals make recommendations for a person's intake of sodium, omega-3 fatty acids, vitamin C, and yes, caffeine.

Ahmed El-Sohemy, a professor of nutritional sciences at the University of Toronto and the founder of Nutrigenomix, points to research that shows the "one-size-fits-all model of nutritional guidance" is not the most effective way for people to eat healthily or lose weight.

"There's research now showing that people who get DNA-based dietary advice are more likely to follow recommendations. So not only are people getting more accurate dietary advice, but they are more likely to follow it," said El-Sohemy.

Nutrigenomix uses a saliva test ordered through healthcare professionals, and is available from more than 5,000 healthcare providers in 35 countries.

Now, there's a new kid on the block: Oakland-based personalized nutrition company Habit.

"We think we're going to disrupt the diet industry," Habit founder and CEO Neil Grimmer told NBC News. "When you think about moving from a one-size-fits-all approach to food to something that's highly personalized, it changes everything. It changes the way you shop. It changes the way you eat. And quite frankly, it even changes the way you think about your own health and well-being."

Habit's home testing kit containing DNA cheek swabs, three finger-prick blood tests, and a special shake. The bloodwork is designed to show how your body metabolizes the huge amounts of carbohydrates, fats, and proteins in the shake. Chiara Sottile

At Habit, it's not just DNA data they're using to make diet recommendations. For $299, Habit sends customers an at-home test kit containing DNA cheek swabs, three finger-prick blood tests, and a "metabolic challenge shake loaded with 950 calories. Users take one blood test prior to drinking the shake, and two more timed blood pricks afterwards. The bloodwork is designed to show how your body metabolizes the huge amounts of carbohydrates, fats, and proteins in the shake.

"You layer in your blood work, your fasting blood work, and you layer in your metabolism, and all of a sudden you have a really clear picture of what's going on inside yourself," said Grimmer.

The Habit test kit also asks you to measure your waist circumference and provide information about your weight and activity level. Users send in the DNA swabs and blood sample testing cards sealed in a pre-paid envelope, and then get their results back a couple weeks later.

Health-conscious San Francisco resident Michelle Hillier was introduced to Habit through a friend. When she received her test results, she was surprised to learn she is a diet type Habit calls a "Range Seeker" meaning she should eat about 50 percent of her daily calories in carbohydrates, about 30 percent from fat, and 20 percent from protein.

"You hear so much about how you need so much protein, and I'm a pretty active person so I had been really upping my protein. And to find out that I'm supposed to have more carbs than anything else was really surprising to me," said Hillier, who is not affiliated with the company.

She also learned that she has genes that are impactful for lactose and caffeine sensitivity, something she had suspected. Like all Habit users get for the $299, after she received her test results, Hillier had a 25-minute phone consultation with a registered dietitian from the Habit team.

Michelle Hillier, pictured, learned she is a "Range Seeker," which means she should eat about 50 percent of her daily calories in carbohydrates, about 30 percent from fat, and 20 percent from protein. Chiara Sottile

The Habit test kit is now available nationally (except in New York, New Jersey, and Rhode Island, because of regulatory restrictions). In the San Francisco Bay Area, Habit users get an added perk: the company will cook you fresh meals in their Oakland kitchen based on your diet recommendations and deliver them to your door weekly.

Hillier receives about three dinners a week costing between $10 and $15 a meal and she can choose her meals with Habit's online dashboard.

For Hillier, the Habit meals have been a positive addition to her already healthy lifestyle, though she admits: "The shake was awful," referring to the metabolic challenge shake. "It was like drinking seven coffees, four avocados, and a scoop of ice cream," said Hillier with a laugh.

Blood pricks and a "Challenge Shake" that lives up to its name could be barriers for some people but, Hillier says, it was well worth it for her.

"I've noticed that my clothes are looser on my body, I feel better. I noticed that I have more energy, honestly, since I started doing the meal plans," said Hillier in an interview, noting she's lost about seven pounds since she started receiving the Habit meal plans in May.

Kristin Kirkpatrick is a registered dietitian at the Cleveland Clinic Wellness Institute, where they offer DNA testing kits from Nutrigenomix.

"Many of my patients have mentioned to me that it [nutrigenomics] has truly changed the way that they eat. But I don't think it's the first step. I think seeing a professional and going over what those important goals and barriers are is definitely what you want to do first, said Kirkpatrick in an interview with NBCs Jo Ling Kent.

As some urge potential consumers to do their homework and speak with their own healthcare professional before they take the plunge into their genetics, the market for DNA-based products is racing ahead. Just last month, Helix, a personal genomics company, launched the first online "marketplace."

Customers who have their genome sequenced with Helix get access to a slew of services from other emerging genomics companies ranging from Vinome,which aims to pick wine for you based on your genes, to EverlyWell, which offers food sensitivity and metabolism tests.

"People are very interested to go beyond the generalities that they've seen and get more specific to what's actually impacting their genes," said Kirkpatrick, though she warns this kind of testing "may not be ready for primetime."

The Academy of Nutrition and Dietetics agrees, writing in a 2014 opinion paper that, "...the use of nutrigenetic testing to provide dietary advice is not ready for routine dietetics practice." In the same paper, the Academy did also characterize nutritional genomics as insightful into how diet and genes impact our phenotypes.

"I don't think it's going to answer every single question that you may have about your health and it's definitely not going to answer things that are very specific to health ailments that you may have," Kirkpatrick told NBC News.

"Will it put you in the right direction towards knowing what foods you need to increase? What foods perhaps you should have less of and what's the best source of protein or fat related to weight loss? Absolutely," Kirkpatrick continued.

By 2020, the genomics market is expected to generate a staggering $50 billion globally, and diagnostic tools, health tech, and wireless wearables are expected to boom from $2 billion to $150 billion globally, according to one analysis.

"I think this is the start of a highly personalized future," said Habit CEO Neil Grimmer. "What we really hope to do is actually dispel a lot of the myths, get rid of the fad diets and actually get something that's personal to you."

Michelle Hillier says her Habit "nutrition coach," a registered dietitian, also advised her that she should consider factors beyond just her test results.

"She said take the results with a grain of salt, because you have to first see how you feel when you eat this way. It's not meant to be the 'end all be all,' but it is a guide like anything else," said Hillier.

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Trying to Find a Healthy Diet? Look to Your Genes - NBCNews.com

How white supremacists respond when their DNA says they’re not … – PBS NewsHour

A white supremacist wears a shirt with the slogan European Brotherhood at a rally in Charlottesville, Virginia, U.S., August 12, 2017. Photo by Joshua Roberts/Reuters

Whether youre a white supremacist, a white nationalist or a member of the alt-right, much of your ideology centers around a simple principle: being white. The creation of a white ethnostate, populated and controlled by pure descendants of white Europeans, ranks high on your priority list.

Yet, when confronted with genetic evidence suggesting someone isnt pure blood, as white supremacists put it, they do not cast the person out of online communities. They bargain.

A new study from UCLA found when genetic ancestry tests like 23andMe spot mixed ancestry among white supremacists, most respond in three ways to discount the results and keep members with impure genealogy in their clan. Their reactions range from challenging the basic math behind the tests to accusing Jewish conspirators of sabotage.

Some argued their family history was all the proof they needed. Or they looked in the mirror and clung to the notion that race and ethnicity are directly visible, which is false.

But the real takeaway centers on a new, nuanced pattern within white supremacist groups to redefine and solidify their ranks through genetic ancestry testing, said Aaron Panofsky, a UCLA sociologist who co-led the study presented Monday at the American Sociological Associations 112th annual meeting in Montreal.

Once they start to see that a lot of members of their community are not going to fit the all-white criteria, they start to say, Well, do we have to think about what percentage [of white European genealogy] could define membership? said Aaron Panofsky, a UCLA sociologist who co-led the study presented Monday at the American Sociological Associations 112th annual meeting in Montreal.

And this co-opting of science raises an important reminder: The best way to counter white supremacists may not be to fight their alternative facts with logical ones, according to people who rehabilitate far-right extremists.

To catalog white supremacists reactions to genetic ancestry results, this study logged onto the website Stormfront. Launched in 1995, Stormfront was an original forum of white supremacy views on the internet. The website resembles a Reddit-style social network, filled with chat forums and users posting under anonymous nicknames. By housing nearly one million archived threads and over twelve million posts by 325,000 or more members, Stormfront serves as a living history of the white nationalist movement.

Over the course of two years, Panofsky and fellow UCLA sociologist Joan Donovan combed through this online community and found 153 posts where users volunteered the results of genetic ancestry tests. They then read through the subsequent discussion threads 2,341 posts wherein the community faced their collective identities.

No surprise, but white supremacists celebrate the test results that suggest full European ancestry. One example:

67% British isles18% Balkan15% Scandinavian100% white! HURRAY!

On the flip side, Panofsky and Donovan found that bad news was rarely met with expulsion from the group.

So sometimes, someone says, Yeah, this makes you not white. Go kill yourself,' Panofsky said. Much more of the responses are what we call repair responses where theyre saying, OK, this is bad news. Lets think about how you should interpret this news to make it to make it right.'

These repair responses fell into two categories.

Reject! One coping mechanism involved the outright rejection of genetic tests validity. Some argued their family history was all the proof they needed. Or they looked in the mirror and clung to the notion that race and ethnicity are directly visible, which is false, University of Chicago population geneticist John Novembre told NewsHour.

Genetically, the idea of white European as a single homogenous group does not hold up.

Though the genetics of whiteness are not completely understood, the gene variants known to influence skin color are more diluted across the globe than any random spot in the human genome. That is to say, humans appear, based on our skin pigmentation, to be much more different from each other than we actually are on a genomic level, Novembre said.

Others accused the ancestry companies of being run and manipulated by Jews, in an attempt to thwart white nationalism, but even other Stormfront users pointed out the inaccuracy of this idea.

Reinterpret:The biggest proportion of responses 1,260 posts tried to rationalize the result by offering an educational or scientific explanation for the genetic ancestry results. Many in the online community played a numbers game. If a genetic ancestry test stated someone was 95 percent white European, they would merely count the remaining 5 percent as a statistical error.

Many adapted this line of thinking to make exceptions for those with mixed ancestry. Nearly 500 posts made appeals by misapplying theories of genetics or by saying whiteness is a culture, not just biology an apparent contradiction to the mission of forming a pure ethnostate. This trend led some white supremacists to debate the boundaries of their ethnostate, Panofsky said.

They start to think about the genetic signs and markers of white nationalism that might be useful for our community, Panofsky said. [They say] maybe there are going to be lots of different white nations, each with slightly different rules for nationalism? Or an overlapping set of nations, that are genetically defined in their own ways?

But these arguments are moot, because these genetic ancestry boundaries are inherently built on shaky ground.

If it seems white supremacists are making arbitrary decisions about their ancestry tests, its hard to blame them. Direct-to-consumer ancestry testing is a slippery, secretive industry, built largely upon arbitrary scientific definitions.

Its black box because its corporate, said Jonathan Marks, biological anthropologist at the University of North Carolina at Charlotte. The way these answers are generated depends strongly on the sampling, the laboratory work that you do and the algorithm that you use to analyze the information. All of this stuff is intellectual property. We cant really evaluate it.

White nationalists carry torches on the grounds of the University of Virginia, on the eve of a planned Unite The Right rally in Charlottesville, Virginia, U.S. August 11, 2017. Picture taken August 11, 2017. Photo by Alejandro Alvarez/News2Share via REUTERS

Genetic ancestry companies assess a persons geographic heritage by analyzing DNA markers in their autosomal DNA (for individual variation), mitochondrial DNA (for maternal history) or their Y chromosome (for paternal history). The latter two sources of DNA remain unchanged from parent to child to grandchild, aside from a relatively small number of mutations that occur naturally during life. These mutations can serve as branch points in the trees of human ancestry, Panofsky and Donovan wrote, and as DNA markers specific to different regions around the world.

When genetic anthropologists examine the full scope of humans, they find that historical patterns in DNA markers make the case that everyone in the world came from a common ancestor who was born in East Africa within the last 100,000 to 200,000 years. Plus, groups intermingled so much over the course of history that genetic diversity is a continuum both within American and Europe, through to Asia and Africa, Novembre of the University of Chicago said.

WATCH: Years after transatlantic slavery, DNA tests give clarity

Genetically, the idea of white European as a single homogenous group does not hold up. The classic geographic boundaries of the Mediterranean, Caucasus, and Urals that have shaped human movement and contact are all permeable barriers, said Novembre. Most of the genetic variants you or I carry, we share with other people all across the globeIf you are in some ethnic group, there are not single genetic variants that you definitely have and everyone outside the group does not.

Commercial ancestry companies know these truths, but bend them to draw arbitrary conclusions about peoples ancestry, researchers say. They compare DNA from a customer to the genomes of people or reference groups whose ancestries they claim to already know.

23andMe, for instance, uses reference dataset that include genomes from 10,418 people who were carefully chosen to reflect populations that existed before transcontinental travel and migration were common (at least 500 years ago). To build these geographic groups, they select individuals who say all four of their grandparents were born in the same country, and then remove outliers whose DNA markers do not match well within the group.

These choices willfully bias the genetic definitions for both geography and time. They claim that a relatively small group of modern people can reveal the past makeup of Europe, Africa and Asia and the ancestral histories for millions of customers. But their reference groups skew toward the present and overpromise on the details of where people came from.

While 23andMe denounces the use of their services to justify hateful ideologies, they do not actively ban known white supremacists from their DNA testing.

A study by 23andMe reported that with their definition of European ancestry, there is an average of 98.6 percent European ancestry among self-reported European-Americans. But given all Ive said, we should digest this with caution, Novembre said. An individual with 100 percent European ancestry tests is simply someone who looks very much like the European reference samples being used.

Though ancestry companies cite research that claims genetic tests can pinpoint someone within 100 miles of their European ancestral home, thats not always the case. Marks offered the recent example of three blond triplets who took an ancestry test for the TV show The Doctors. The test said the triplets were 99 percent European. But one sister had more English and Irish ancestry, while another had more French and German. Did we mention they are identical triplets?

That shows you just how much slop there is in these kinds of of ancestry estimates, Marks said.

Marks described commercial ancestry testing as recreational science because its proprietary nature lacks public, academic oversight, but uses scientific practices to validate stereotypical notions of race and ethnicity.

While 23andMe denounces the use of their services to justify hateful ideologies, they do not actively ban known white supremacists from their DNA testing, BuzzFeed reported.

But white supremacists arent the only ones to buy into these wayward notions when genetic ancestry tests support their self-prescribed identities or reject the science when things dont pan out as expected. African-Americans do it too, as Columbia University sociologist Alondra Nelson found in 2008.

Consumers have what I call genealogical aspiration, Nelson told NewsHour. They often make choices among dozens of companies based on the kind of information theyre seeking. If youre interested in finding whether or not youre a member of the small group that has, for example, some trace of Neanderthal DNA, then youre going to go to a company that focuses on that.

She said Panofsky and Donovans study shows that white nationalists will engage in a process of psychic and symbolic negotiation when genetic ancestry results fail to satisfy their impossible idea for racial purity.

But Panofsky, who doesnt support or sympathize with white nationalists, believes these negotiations are not a reason to dismiss white nationalists as ignorant and stupid.

I think that is actually a dangerous view, Panofsky said. Our study reveals that these white nationalists are often engaging with genetic information in extraordinarily sophisticated ways.

Many white supremacists are dealing with toxic shame, a perpetual subconscious belief system where their sense of identity is negative.

White supremacists are trying to deal with the issue of identity as an intellectual problem, said Tony McAleer, the co-founder and board chair of Life After Hate, a counseling organization that rehabs white supremacists. But he said the rehab of white nationalist views doesnt start with challenging their mental gymnastics with data.

We need to deal with the emotional drivers first, McAleer said. University of Maryland did a study of violent extremists and what they found was the number one correlated factor with someone joining a violent extremist group was childhood trauma.

But McAleer continued that the emotional trauma fueling white supremacy extends past physical and sexual abuse. Many white supremacists are dealing with toxic shame, a perpetual subconscious belief system where their sense of identity is negative.

The person feels at a subconscious level theyre not good enough, McAleer said. One way to react to that is to perpetually spend all of your efforts to prove to the world that you are a winner.

So, Life After Hates antidote to this shame is compassion and empathy, he said. Rather than toss statistics about how Muslims arent flooding the country and do not lead to spikes in crime, they will take a white supremacist to an Islamic center and have them sit down and spend time there.

A personal connection is a much more powerful way to change the dynamics within a person, than it is to re-educate the dataset thats in their head, McAleer said.

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How white supremacists respond when their DNA says they're not ... - PBS NewsHour

Biochemistry – Part I Moof University

Biochemistry - Part I Moof UniversityMoof University Acids, Bases, and the Henderson-Hasselbalch EquationAmino AcidsProtein Structure and FunctionCarbohydratesEnzymesEnzyme InhibitionEnzyme RegulationBiochemist's Toolbox - Learn These BEFORE Learning Glycolysis and Other PathwaysGlycolysisGluconeogenesisGlycogenTCA / Krebs / Citric Acid CycleGlycolysis Energy CalculationsElectron Transport ChainPhotosynthesisPentose Phosphate PathwayLipidsFatty Acid MetabolismKetone BodiesFatty Acid SynthesisLipid SynthesisCholesterol SynthesisRegulation of Cholesterol SynthesisLipoproteins

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Biochemistry - Part I Moof University

Researcher Seeks to Unravel the Brain’s Genetic Tapestry to Tackle Rare Disorder – University of Virginia

In 2013, University of Virginia researcher Michael McConnell published research that would forever change how scientists study brain cells.

McConnell and a team of nationwide collaborators discovered a genetic mosaic in the brains neurons, proving that brain cells are not exact replicas of each other, and that each individual neuron contains a slightly different genetic makeup.

McConnell, an assistant professor in the School of Medicines Department of Biochemistry and Molecular Genetics, has been using this new information to investigate how variations in individual neurons impact neuropsychiatric disorders like schizophrenia and epilepsy. With a recent $50,000 grant from the Bow Foundation, McConnell will expand his research to explore the cause of a rare genetic disorder known as GNAO1 so named for the faulty protein-coding gene that is its likely source.

GNAO1 causes seizures, movement disorders and developmental delays. Currently, only 50 people worldwide are known to have the disease. The Bow Foundation seeks to increase awareness so that other probable victims of the disorder can be properly diagnosed and to raise funds for further research and treatment.

UVA Today recently sat down with McConnell to find out more about how GNAO1 fits into his broader research and what his continued work means for all neuropsychiatric disorders.

Q. Can you explain the general goals of your lab?

A. My lab has two general directions. One is brain somatic mosaicism, which is a finding that different neurons in the brain have different genomes from one another. We usually think every cell in a single persons body has the same blueprint for how they develop and what they become. It turns out that blueprint changes a little bit in the neurons from neuron to neuron. So you have slightly different versions of the same blueprint and we want to know what that means.

The second area of our work focuses on a new technology called induced pluripotent stem cells, or iPSCs. The technology permits us to make stem cell from skin cells. We can do this with patients, and use the stem cells to make specific cell types with same genetic mutations that are in the patients. That lets us create and study the persons brain cells in a dish. So now, if that person has a neurological disease, we can in a dish study that persons disease and identify drugs that alter the disease. Its a very personalized medicine approach to that disease.

Q. Does cell-level genomic variety exist in other areas of the body outside the central nervous system?

A. Every cell in your body has mutations of one kind or another, but brain cells are there for your whole life, so the differences have a bigger impact there. A skin cell is gone in a month. An intestinal cell is gone in a week. Any changes in those cells will rarely have an opportunity to cause a problem unless they cause a tumor.

Q. How does your research intersect with the goals of the Bow Foundation?

A. Let me back up to a little bit of history on that. When I got to UVA four years ago, I started talking quite a lot with Howard Goodkin and Mark Beenhakker. Mark is an assistant professor in pharmacology. Howard is a pediatric neurologist and works with children with epilepsy. I had this interest in epilepsy and UVA has a historic and current strength in epilepsy research.

We started talking about how to use iPSCs the technology that we use to study mosaicism to help Howards patients. As we talked about it and I learned more about epilepsy, we quickly realized that there are a substantial number of patients with epilepsy or seizure disorders where we cant do a genetic test to figure out what drug to use on those patients.

Clinical guidance, like Howards expertise, allows him to make a pretty good diagnosis and know what drugs to try first and second and third. But around 30 percent of children that come in with epilepsy never find the drug that works, and theyre in for a lifetime of trial-and-error. We realized that we could use iPSC-derived neurons to test drugs in the dish instead of going through all of the trial-and-error with patients. Thats the bigger project that weve been moving toward.

The Bow Foundation was formed by patient advocates after this rare genetic mutation in GNAO1 was identified. GNAO1 is a subunit of a G protein-coupled receptor; some mutations in this receptor can lead to epilepsy while others lead to movement disorders.

Were still trying to learn about these patients, and the biggest thing the Bow Foundation is doing is trying to address that by creating a patient registry. At the same time, the foundation has provided funds for us to start making and testing iPSCs and launch this approach to personalized medicine for epilepsy.

In the GNAO1 patients, we expect to be able to study their neurons in a dish and understand why they behave differently, why the electrical activity in their brain is different or why they develop differently.

Q. What other more widespread disorders, in addition to schizophrenia and epilepsy, are likely to benefit from your research?

A. Im part of a broader project called the Brain Somatic Mosaicism Network that is conducting research on diseases that span the neuropsychiatric field. Our lab covers schizophrenia, but other nodes within that network are researching autism, bipolar disorder, Tourette syndrome and other psychiatric diseases where the genetic cause is difficult to identify. Thats the underlying theme.

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Researcher Seeks to Unravel the Brain's Genetic Tapestry to Tackle Rare Disorder - University of Virginia

Robert Sapolsky: How Much Agency Do We Have Over Our Behavior? – NPR

Part 1 of the TED Radio Hour episode Hardwired.

About Robert Sapolsky's TED Talk

Neuroscientist Robert Sapolsky says nearly all aspects of human behavior are explained by biology: from developments millions of years in the past to microscopic reactions happening in the present.

About Robert Sapolsky

Robert Sapolsky is a primatologist and a professor of neuroscience at Stanford University. His current research examines how stress alters personality patterns and social behavior.

Sapolsky's latest book, Behave: The Biology of Humans At Our Best And Worst, tries to answer the question, why do we do the things we do?

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Robert Sapolsky: How Much Agency Do We Have Over Our Behavior? - NPR

New mobile app studies tick disease risks – Block Island Times (press release) (subscription) (blog)

An innovative and new behavioral study is being conducted on Block Island using a free smartphone app to examine how daily activities expose people to the risks of acquiring diseases transmitted by ticks. The all-mobile research study app, called the Tick App,is available to IOS and Android smartphone users.

The app was created by Columbia Universitys tick and Lyme disease research team, led by Dr. Maria Diuk-Wasser, a professor in the Department of Ecology, Evolution and Environmental Biology (E3B). It offers the Block Island community a way to understand what activities and specific locations on the island lead to the highest risk of tick exposure. The pilot study is open, and is seeking residents and visitors on Block Island to participate by utilizing the app through September 2017. Dr. Diuk-Wasser intends to report her findings before next spring.

A summary from the research team noted that the goal of the study is to evaluate the use of ecological momentary assessments as a tool to assess risk factors for Lyme disease. This study will be conducted on Block Island, and data on human behavior will be obtained from a smartphone application using momentary assessments methodology to assess real time behavior and movement.

Were excited about the app, said Dr. Diuk-Wasser, who noted that the pilot study was hatched out of collaboration with a colleague. Dr. Diuk-Wassers team began using the app in June, and will share the results with Dr. Peter Krause, a Senior Research Scientist studying vector borne diseases at Yale University. Dr. Krause and his team will test participants at the conclusion of the study at the end of September.

Dr. Diuk-Wasser said subjects will participate using the app for about three weeks during the study. She said the app tracks the participants range of movement daily providing mapping information about dangerous areas on the island. She is hopeful that her research draws a large field of participants.

Dr. Diuk-Wasser has been working on Block Island since 2010, investigating links between the islands environment, animal populations, and human cases of Lyme disease. Other members of her research team are Pilar Fernandez, an Earth Institute post-doctorate fellow, and Pallavi Kache, who will be starting her PhD program at E3B in the fall.

Fernandez, who has been leading the teams communication efforts, said the app provides a way to use new tools and resources to conduct our research.She noted that users can participate using either a username, or their own name if they choose. Were the only ones who will be accessing the data from the study, she said.

According to a press release, The Tick App uses a combination of pop-up survey questions and geolocation technology to collect data. With these functions, Dr. Diuk-Wassers research team will be able to uncover how peoples day-to-day activities and movement around the island play a role in their risk for tick bites and tick-borne diseases. This information can help develop disease-control programs that take the lifestyle of the Block Island community into consideration and help develop educational programs to reduce disease risk.

The Tick App asks participants to:

Answer two multiple-choice questions sent at random times each day about their current activity

Answer two multiple-choice questions at the end of each day about all the activities they did that day

Answer one fill-in-the-blank questionnaire at the end of each day about how many ticks they found on themselves and their pet (if applicable)

Turn on location services so that the participants movement around the island can be detected

The summary states that the aim of the research is to recruit 100 Block Island residents and 100 visitors who have a personal smartphone. Vulnerable populations, such as pregnant women, the elderly, or children, will be excluded. The study will produce highly precise behavioral data about tick exposure which will lead to deepen our understanding on what intervention strategies might be most needed and most effective, pertaining to the fight against tick-borne disease.

The Block Island Times reported on Dr. Diuk-Wassers five-year research study that she presented at the Island Free Library on July 11, 2016. During her presentation she explained the pivotal role that deer and mice play in the spread of tick-borne diseases on Block Island.

To learn more about the app or to schedule an interview, contact: Maria Diuk-Wasser, PhD, Associate Professor, Department of Ecology, Evolution, and Environmental Biology at Columbia University. Phone: 212-854-3355 E-mail: bitickapp@gmail.com, Website: http://www.columbia.edu/~mad2256, Study Website: https://thetickapp.org/ and Twitter: @diukwasserlab. Dr. Diuk-Wasser said she is seeking additional funding to further the evolution of the app and her studies, which she hopes to continue into the near future.

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New mobile app studies tick disease risks - Block Island Times (press release) (subscription) (blog)

Scientists Found the Neurons That Respond to Uptalk – WIRED

Too often, letters, words, and sentences get the credit for conveying information. But the human brain also makes meaning out of pitch. Like how upspeak turns any sentence into a question? Or how emphasizing the beginning of a sentence (Tom and Leila bought a boat) helps clarify that it was in fact Tom and Leila who bought the boat, not some other couple. If you emphasize the end of that sentence (Tom and Leila bought a boat) however, youre just pointing out that your friends didnt buy a car, dirt bike, or pony.

Pitch matters, and youve got the brain cells to prove it. A new study, published Thursday in Science, found groups of neurons that listen for changes in someones speaking tone. Some are tuned for shifts upward, others for shifts downward, and some that fire only when a sound goes up, and then down in pitch. Whats more, these cells arent trained for absolute pitchthey cant tell an A sharp from a D flatbut they listen for relative shifts, taking each voice on its own merit. This gives scientists a big boost in understanding how our brains turn sounds into meaning.

I think most people just take for granted how good humans are at making meaning out of sound, says Edward Chang, a neurosurgeon at UC San Francisco and lead author of the new study. This makes sensepeople communicated through sound for millennia before they started to scribble their thoughts down. And obviously, language and grammar matter. In previous research, Chang and some other co-authors showed that human brains had cells specialized to pick out the sounds of consonants and vowels. But vocalized communication contains nuances beyond the order that letters and words get strung togetherfor instance, the way humans modulate their voices up or down to emphasize a word or phrase. These differences are all really important, because they change the meaning of the words without changing the words themselves, says Chang. So he and his new co-authors reasoned that there might also be neurons tuned to intonation.

To find the answer, they needed direct access to the brain. Functional MRI, the famous (and occasionally maligned) method for mapping brain activity, is noninvasive, and lets you look at the whole brain all at once, but the signal is much too slow. So they enlisted some helpful epileptic patients who had electrodes implanted under their skulls. These electrodes allow their doctors to pinpoint exactly where seizures originate, and do so on the millisecond time scale. In some cases we can cure epilepsy if we can identify precisely where the seizures are coming from, says Chang. That millisecond resolution is a huge advantage if you are looking for how auditory signals light up the brain.

Chang and his crew recruited 10 of these electrode-outfitted patients, who volunteered to listen to sentences repeated over and over again. The sentences, four in total, were simple: Humans value genuine behavior; Movies demand minimal energy; Reindeer are a visual animal; Lawyers give a relevant opinion. The researchers recorded each using three different voicesone male, and two femaleand four different intonation patterns. The first intonation was neutral (Think Ferris Buellers econ teacher calling Bueller . Bueller Bueller). Then they spiced it up. The next intonation emphasized the first word (Humans value genuine behavior.); and another emphasized the third word (Humans value genuine behavior.). The last intonation was upspeak: A question?

And voila! When they ran the data, they clearly saw that the brain had specific sets of neurons tuned to pitch, distinct from those tuned to consonants and vowels. So what it tells us is the ear and brain have taken a speech signal and deconstructed it into different elements, and processes them to derive different meanings, says Chang. Chang says these multiple axes for meaning may have evolved because it makes communication more efficient, with a single signal containing many elements for interpretation. Not a stretch for animals as social as human beings.

Thats not even the coolest bit. These pitch-tuned neurons are actually discerning intonation on the fly. Somehow, the cells establish a baseline pitch for the incoming speech and process the ups and downs from there. To musicians, this probably isnt surprising. Its sort of like shifting a melody up or down a keythe melody is still recognizable. Of course, human brains also have neurons trained for absolute pitch. This probably helps with things like identifying individual voices in a crowded, noisy space. I think people take for granted how good humans are at doing stuff like holding conversations in a busy bar where theres all these competing sounds, says Chang.

Next, Chang and his crew will be turning their investigation on its head. He wants to understand how the brain controls intonation. This means not just watching electrodes in the brain, but looking at the muscles that control the vocal folds and larynx. The one limitation is we cant easily see how things like the lips, jaw, and tongue move in coordination with the vocal folds and larynx to produce sound, says Chang. No matter how loud and clear the speech, it won't make any sense without brains.

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Scientists Found the Neurons That Respond to Uptalk - WIRED

Climate has been changing on its own – Brunswick News

One of the researchers made reference in a recent article to the effects of human behavior on the planet while discussing the factors driving long-term sea level rise.

Dont get me wrong, I am a big proponent of being a good steward of the land, but it is amazing how a person can get berated for not believing in man-made global warming and stating the opinion that man is not causing the climate to change. We have politicized this issue to the extent that it is a money machine for activists and the goal of some politicians to make us believe they can save us.

When President Obama and John Kerry visited Alaska in 2015, they stated emphatically that humans are the cause of global warming. However the facts present another story. Patrick Moore, co-founder of Greenpeace stated that people have lived in the Glacier Bay for 4,000 years. The glacier in Glacier Bay began retreating around 1750. By the time Captain George Vancouver arrived in 1794, the glacier still filled most of the bay but had receded for miles. According to the National Park Service, when John Muir visited in 1879, he found that the glacier had receded more than 30 miles from the mouth of the bay. By 1900, Glacier Bay was mostly ice free, long before human emissions of greenhouse gases could have any impact. In fact, natural factors have caused the climate to change for millions of years, and they will continue to do so.

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Climate has been changing on its own - Brunswick News