The Neuroscience of Seeing an Ex – Discover Magazine

When I arrived at the wine bar, there was only one open table dimly lit and intimate. The booze, music and candlelight felt like a callback to our first kiss 15 years before, almost to the day.

There was no sign of him, so I ordered a chardonnay and two small plates, and tried to focus on the novel I brought with me, ironically titled What She Knew. Instead, I found myself flashing back to the last time I saw him.

We had just returned from a trip to Napa to scout wedding venues. After a heated kiss, I drove to my apartment 95 miles away.

Days later, I learned hed been cheating on me, and I ended our six-year relationship the best of my life up to that point with a two-line email. He fired back with a litany of messages, which began with profanity and culminated in pleas.

PLEASE DONT LEAVE ME. . . YOU ARE MY EVERYTHING, he screamed through the screen.

He sent texts, letters, roses, and initiated countless hang-up calls.

I never responded. I never told him a mutual friend confirmed my suspicions. I never considered reconciling.

Over the years, we corresponded intermittently, but not about anything deep and never to revisit our history. But when work took me to his hometown of Santa Barbara, I reached out and asked if hed like to meet.

Im happily married with kids. Hes engaged. Whats the harm?

Apparently my urge to reconnect with an ex makes sense. The brain develops pathways based on learned patterns, says love expert Helen Fisher, a senior research fellow at the Kinsey Institute, Indiana University. So, if you laid down a powerful pattern that this person was your life partner, your brain can retain traces of that circuitry, even after youve bonded with someone new.

Nevertheless, I struggled to understand why, even though its certainly not the case for everyone especially those who have had toxic relationships I felt so comfortable sitting across the table from someone who pulled the rug out from under me. So down the rabbit hole I went to find out what happens in our brains when we reunite with an old love.

Laying Down a Template I met Ben (not his real name) when we were both 26. We had a sweet, albeit star-crossed romance. He was an irrepressible free spirit, a dreamer, a romantic. I was an ambitious type A who played it safe. Like peanut butter and jelly, we complemented each other.

He was the first to make me dinner, teach me to surf in ice-cold waters and unlock the seemingly impenetrable fortress of my body. Together, we formed our identities and defined what love meant. In the process, he ingrained himself into my psyche.

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The Neuroscience of Seeing an Ex - Discover Magazine

Q&A: Neuroscience major Alex Gogliettino ’17 explores ‘what makes us who we are’ – Bates News

As an English major, I can guarantee that I wont be called upon to inject a drug into a mouse brain. But for neuroscience honors candidate Alex Gogliettino 17 of Branford, Conn., thats a basic skill.

Already accepted into doctoral programs in neuroscience for next year, Gogliettino has spent hundreds of hours in a Bates lab using a mouse model to analyze and interpret a possible treatment for an exceptionally rare autism-spectrum disorder in humans.

In preparation for his honors thesis research, he spent the past two summers working at Yale University in the lab of Dr. Marc Potenza, receiving support from a Bates Summer Research Fellowship and the Kelsey Prize for Neuroscience Research, named for Professor Emeritus of Psychology John Kelsey.

This year, hes brought all his Bates training to bear on his thesis, DNA Methylomics: Targeting TET1 as a Treatment for Intellectual Disability, and as he explained it to me, this was my immediate thought: This is important, and I need to know more.

My adviser and I are basically knocking down a protein that is, blocking it from being made in the brain to try to enhance learning and memory in mice that have been genetically modified to have a certain intellectual disability.

The protein is the one in my thesis title: TET1, or Ten-eleven translocation methylcytosine dioxygenase 1.

We are also trying to better understand the molecular mechanisms that underpin learning and memory.

Thats one of the biggest challenges in science: Communicating to individuals who are not necessarily involved in science what exactly you are doing.

My actual thesis delves deeply into the molecular biology, but in the first few pages I discuss what this topic means to me personally and how it is addressing a societal issue and a pressing biomedical issue, intellectual disability. I explain why Im intrigued by it.

OK, this gets pretty philosophical. Humans have the capacity to recall just crazy amounts of detail from earlier parts of our lives. And that capacity really is what makes us who we are. We are what we can remember about our past. Thats just crazy, and its just a unique, really interesting puzzle.

And also, there are diseases of the brain, like Alzheimers and many others, where individuals cant do that. And in rare disorders like the one I am studying, Pitt-Hopkins Syndrome, they have impaired language and memory function.

Individuals with this disease are missing a functional copy of a single gene known as Transcription Factor 4.

Pitt Hopkins is an extremely rare disease. There are only about 500 people in the world that we know of. Individuals with Pitt Hopkins Syndrome often do not develop language spoken or sign.

My project is based on Pitt Hopkins research being done at Bates by my thesis adviser, Andrew Kennedy. We think one of the reasons is a disruption in their capacity for verbal memory.

Hes new, and I didnt really meet him until this year.

Last year, I was taking a neuroscience class, and my professor, Nancy Koven, was saying how Bates was hiring a new professor and we should go to the research talk that each candidate gives. I went and I thought that he was asking really interesting questions about learning and memory.

So I just emailed him, a cold email saying, I would love to work with you. He emailed me back and said, That would be cool. Here are the projects that you can work on.

Alex Gogliettinos thesis adviser is Assistant Professor of Chemistry Andrew Kennedy, shown teaching an organic chemistry lab on Feb. 9, 2017, in Dana Chemistry Hall. (Josh Kuckens/Bates College)

I really like working with him. Hes always available through email, phone, etc. Hes only 33 and has just finished his post-doc so he knows whats like to be an undergrad.

More important, he also went to a small college, Providence College, so he knows what the relationship between a small-college professor and a student is. He really cares and understands that this whole thing is a learning experience.

The most important part was to make sure I familiarized myself with the literature, so I started reading last May. Thats probably one of the hardest parts of a project like this: wrapping your head around what is actually happening in the field, where the barriers to new knowledge are, and what we know vs. what we dont know. That is a really important part of science.

Last semester, almost every morning from around 9 to 12, I would write. I would have the most energy in the morning, and writing is very taxing, thats the best time for me.

The spot where I wrote really didnt matter. I would just go somewhere I was comfortable and could work for three hours. It would depend. I would mix it up. First floor of the library sometimes. Then the third floor, then the second floor. And sometimes in my room at my desk.

When you start familiarizing yourself with the field, the first pieces of literature you are going to read are pretty intense. Honestly, reading a scientific paper in an unfamiliar field takes about five hours to go through. Youve got to just take your time and start as early as you possibly can.

I started out with reading review articles, which are not necessarily studies per se, but are reviewing the literature. They give you a scope of the field. They give you perspective, help you familiarize yourself with the jargon and, again, tell you whats known and whats not known about the field.

And once I started to get a feel for that, I started delving deep into the hard-core research papers. It was daunting, a little bit, but I would just take my time.

The most interesting part are the questions we are asking about our ability to recall thingsfrom the past, and how that fits into the bigger picture of understanding how the brain gives rise to consciousness. That is the coolest part.

I think the most difficult part is that this work is technically difficult and very time-consuming. Thats not negative, just challenging.

Working with animals requires a good amount of dexterity and injecting drugs into a mouse brain is pretty hard. In the grand scheme of cognitive neurobiology research, its pretty simple surgery, but at the undergraduate level it is probably one of the most challenging things that I would do.

Neuroscience major Alex Gogliettino 17 of Branford, Conn., poses in a Carnegie Science Hall laboratory on Feb. 28, 2017. The red light helps create a calm environment for the labs work with mice. Since mice cannot see red light, they behave as they would in their preferred, darkened environment. (Josh Kuckens/Bates College)

Also, another component of my thesis involves working with big data and doing computer-science work, so I had to teach myself a lot of computer science stuff, too. That was tough and challenging, but you grow and learn a lot from it.

Especially with lab theses, there is only a certain amount of control when you run the experiments. And there is a lot of stuff you cant control. That is just going to happen.

One of the most important parts of doing thesis, and being involved with science at all, is just understanding that nothing is ever going to be perfect. You are going to mess up and you are going to fail. But dont be discouraged or shy away from that. Just learn from your mistakes and move on. Be a little too optimistic at times because you need that positive energy to keep going, because there will be a lot of roadblocks to be found, but you can overcome them.

I hope to continue doing neuroscience research for the next five years, at least.

Ive been accepted to a couple neuroscience Ph.D. programs, at Washington University and Vanderbilt, and am heading to Stanford for interviews this week.

I have the potential opportunity to work with a professor who advised Professor Kennedy, doing the same sort of work at a research university that were doing here at Bates.

Interviews are just a great time to talk science with professors and be immersed in an environment where everyone is as passionate about studying neuroscience as you are.

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Q&A: Neuroscience major Alex Gogliettino '17 explores 'what makes us who we are' - Bates News

CHI St. Vincent Moves Neuroscience Institute to North Campus – Arkansas Business Online

by Arkansas Business Staff on Thursday, Mar. 9, 2017 1:07 pm

CHI St. Vincent in Little Rock announced on Wednesday that is renovating its CHI St. Vincent North campus in Sherwood for $10 million over the next 18 months to move its Arkansas Neuroscience Institute there.

The renovations include finishing out the third floor, renovating the operation space to accomodate ANI's specialized equipment and adding a helipad.

The health care system said it will also build a $4 million state-of-the-art ANI education and research center adjacent to the renovated space. That center will have a 250-seat auditorium, lab facilities, a conference room and a space to accomodate future growth.

CHI St. Vincent is seeking support in the form of philanthropic gifts for the new building.

According to a news release, the move will also aldlow the program to expand its staff and services, to include epilepsy surgery and surgery for movement disorders.

"Creating a destination Neuroscience Institute at our north campusin central Arkansas allows us to better serve a full spectrum of neurological disorders and treat the growing number of patients ANI serves from all 75 counties in Arkansas, 37 states and other countries around the world," CEO Chad Aduddell said in the news release.

ANI has five neurosurgeons, each having a different subspecialty, and Dr. Ali Krisht, is its director. They perform more than 1,000 surgeries per year.

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CHI St. Vincent Moves Neuroscience Institute to North Campus - Arkansas Business Online

The Future of Human-Centered Robotics – Electronic Design

Luis Sentis will lead a session, A Developers Primer for Coding Human Behavior in Bots, at SXSW on Sunday, March 12, 2017.

Human-centered robotics hold a special place in the robotics field because they both mimic human sensing and cognitive behavior, and are designed to assist humans for safety and productivity. To explore human-centered robotics is to explore human beings and how we sense the world, analyze complex and often conflicting information, and act upon our findings, modifying perception, understanding, and action as new information is available.

Such machines could be of great practical benefit to humans on long space flights to Mars, for instance, or as human proxies in hazardous environments such as a chemical spill or even ordinary circumstances like education or elder care.

Obviously, creating human-centered robots poses many challenges in conception, design, and the hardware and software that support them. My own work in this burgeoning field focuses on designing high-performance series elastic actuators for robotic movements, embedded control systems, motion planning for dynamic locomotion, and real-time optimal control for human-centered robots.

Once we have a platform for human-centered robotics, and once we can create the hardware and software and the logic to drive them, we can turn to its real-world applications, which are many.

Most readers probably have only a passing acquaintance with human-centered robotics, so allow me to use this brief blog to introduce a few ideas about this topic and its challenges.

Humanoid and Human-Centered

Since perhaps the 1950s, television and the movies have often portrayed humanoid robotsrobots that take roughly human formentertaining us with how closely they mimic humans or by how far they fall short. Sometimes, in a dramatic plot turn, a humanoid robot becomes malevolent or uncontrollable by humans.

I prefer the term human-centered robot, because it most closely describes my field of endeavor: How to create a robot that is focused on assisting a human being; sometimes guided by a human, but also learning on its own what action or behavior would be most helpful to that human.

In my view, we do not yet have sufficient evidence to say that humanoid robots are most effective when interacting with humans. They may well be, but we do not have definitive data on the question.

However, it appears anecdotally true that humanoid robots fire the human imagination and that has its benefits. In addition to their portrayal in popular media, I have found that humanoid robots draw the most, well, human interest. Soon after creating one we named Dreamer in 2013, in the Human Centered Robotics Lab (HCRL) at the Cockrell School of Engineering at the University of Texas at Austin, we generally received more attention from curious students, engineers, investors andwouldnt you know itmovie producers. (Dreamer eventually had a bit part in Transformers 4 in 2014.) If humanoid robots help draw attention and interest to human-centered robotics, so be it.

Applications and Productivity

The more important aspect of this field is how to create human-centered robotics that sense their surroundings and either respond to human directions or intuit what actions would best serve their human counterpart.

Ive mentioned the possible robotic applications of space travel, perhaps as a companion to astronauts on a space walk, as a human proxy in hazardous environments or as a caregiver to an elderly person. In each case, the notion of productivity is different.

If you think of productivity for robotics generally in a manufacturing setting, it can be measured in terms of hours of work performed and profits earned. But in a long space journey to Mars, productivity will be measured instead in terms of the astronauts enhanced safety and ability to accomplish difficult tasks. In a hazmat spill, productivity might be measured in terms of human lives saved. In elder care, how well did a robot perform in changing bandages or applying ointment to a sore, preserving the persons health?

Robot Knows Best

Another quest in human-centered robotics is to create the ability of a robot to not just predict human behavior, but to perform what I call intervention. Whatever its level of complexity, can we build a robot with logic that assesses a situation for optimal actions, whether directed by a human or not? This translates to a robots ability to say to itself, Well, the human is operating the system in such a way. We could do better if computationally I have a hypothesis about what would be best for the human and intervene with that particular behavior.

This ability requires pairing social cognitive theories with mathematics. And I have found that advances are possible for what I call self-efficacy, which is basically the self-confidence to achieve a certain behavior.

At this point, self-efficacy can be achieved in very simple scenarios. One potential application is to use a human-centered robot to motivate students to solve problems by sensing and reacting to students level of engagement, then producing an interaction that motivates the student and enhances learning. I hope to demonstrate this and give attendees a chance to code such behavior in a human-centered robot at SXSW.

Touch and Whole Body Sensing

One major way in which humans interact is through touch. We place a hand on a shoulder or grasp someones forearm to gain their attention. Robotsparticularly humanoid ones with mobilityare likely to be large and quick, so touch becomes an important element in the safety of their human counterparts. We do not want a robot that runs into an astronaut on a space walk or pins someone to a wall. Thus, we are developing what I call whole body sensing. Though some in this field are pursuing something known as sensory skin, at the HCRL we have taken a more economical approach to minimize the amount of electronics needed.

We use a distributed sensor array on the robots surface, but they number in the dozens, not the thousands employed in sensory skin. Instead, we combine different sensing modalities internal to the robot, such as accelerometers, which aid stabilization, and vibration sensors that enable the machine to triangulate information on whats happening in the immediate environment. This enables the robot to respond to human touch, but within the context of other information it is receiving from its environment. We call this whole-body contact awareness, a combination of internal and external sensing and awareness.

Spin-offs

I hope this mere glimpse into the world of human-centered robotics piques your curiosity. It may serve to attract those who wish to work in the field. But the general public should also understand that advances in this field will eventually make their way into human-centered robotics in our homes, our businesses, manufacturing, agriculture, smart cities, the Internet of Things, you name it. Well have systems somedaywe already do, with limited abilitiesto sense human behaviors and intervene to produce optimal conditions based on an understanding of whats best for the people involved in a particular situation.

Today, we have smart thermostats that learn our preferences for heating and cooling our homes. Tomorrow, we may have human-centered robotic systems that optimize our cities.

Luis Sentis is an Assistant Professor in the Department of Aerospace Engineering at the University of Texas (UT) at Austin. He also leads UT Austins Human Centered Robotics Laboratory and is co-founder of Apptronik Systems Inc., a contractor for NASA's Johnson Space Center.

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The Future of Human-Centered Robotics - Electronic Design

Creepy mouse experiment helps scientists understand contagious behavior – Ars Technica

A mouse watches a video of another mouse scratching and becomes itchy. This means contagious scratching isn't based on smells or being familiar with the itchy mouse.

Humans and other social animals suffer from something called contagious itching. It's when you see somebody else scratching and suddenly need to scratch yourself, too. Now, a group of scientists led by Zhou-Feng Chen at the Center for the Study of Itch at Washington University in St. Louis have discovered that mice have the same problem. In the process, the scientists may have identified what causes some contagious behaviors.

Once Chen and his colleagues had established that mice have contagious itching just like other mammals, they wanted to know more. How did such behavior arise in the neurocircuitry of mouse brains? One possibility was that it was a kind of empathetic reaction to mice they knew well or that it was a response to smelling or touching an itchy mouse. But they found that mice could catch itches from strange miceand even from mice they saw on video (see video above). So clearly all they needed was to see another itchy mouse to get itchy themselves.

Chen and his team then dove straight into the neurobiology of the mice. Brain scans of the scratching mice revealed activity in a region called the suprachiasmatic nucleus, whose neurons emitted a chemical called gastrin-releasing peptide (GRP). By switching GRP on and off in mouse brains, the researchers discovered that it governed only contagious scratching. Mice with blocked GRP still got itchy, but they didn't start scratching when they saw other scratching mice.

The researchers used optogenetics, or light stimulation, to trigger activity in the suprachiasmatic nucleus, where social scratching is processed. At first the mouse in this video seems nonplussed, then it starts scratching frantically.

Then the researchers wondered if they could induce contagious scratching even when there were no other mice nearby to catch it from. So they injected GRP directly into their subjects' brains and also used brain implants that stimulated electrical signaling in the suprachiasmatic nucleus. Both types of treatment caused the mice to engage in frantic scratching, as if they had just seen one of their fellow rodents scratching themselves. In a paper for Science, Chen and his colleagues suggest that this means contagious scratching is a kind of involuntary response, hardwired into the brain.

University of Sussex neuroscientist Anil Seth, who was not involved in the research, told The Guardian that "very deep and evolutionary ancient mechanisms might be involved."

What kind of evolutionary pressures would create such a fundamental process in the brain? "It's possible that when a lot of mice are scratching, maybe it warns other mice that this is a place that has a lot of insects, and you'd better start scratching before it is too late," Chen told Live Science.

He and his colleagues write that their work also "may have implications for our understanding of neural circuits that control socially contagious behaviors." In other words, it's possible that there are other socially contagious activities in animals that could be induced by brain implants.

It's hard to deny that this sounds like the first step toward some kind of Matrix-like dystopia, where brain implants fool us into thinking we're eating tasty steaks. But that's unlikely. Human behavior is far more complex than what we see in mice. Still, this research has revealed something fascinating about how mammal brains work. With a little neurochemical intervention, scientists can induce social reflexes in mice who are entirely alone.

Science, 2017. DOI: 10.1126/science.aak9748

Listing image by Science

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Creepy mouse experiment helps scientists understand contagious behavior - Ars Technica

New translations – Duke Chronicle

Opinion | Column

the picture of health

When you think about the phrase medical research the image that probably enters your mind is a white-coated scientist, carefully pipetting chemicals, culturing cells or observing something under a microscope. For centuries, research in the basic scienceschemistry, physics and biologyproduced medicines most substantive advances. However, a shifting landscape of disease suggests that medicine will have to adopt discoveries from a broader array of disciplines, such as psychology and economics, if it is to effectively address the challenges of the future.

Translational research is the process of transitioning discoveries from bench to bedsideleveraging fundamental scientific discoveries into applicable treatments for patients. Take for example the development of cancer therapies. A fundamental understanding of cell division led to the discovery of agents that halt that process. These agents were then developed into medications that target rapidly dividing cancer cells. Similarly, research about human behavior and decision-making can be leveraged to create interventions to treat diseases driven by choices.

In industrialized nations, the landscape of disease is rapidly shifting. Due to medical advances in the treatment of infectious disease and traumatic injury, American mortality is increasingly driven by chronic, and often preventable, disease. In 1900, 23.1 percent of all deaths were attributed to pneumonia, influenza and tuberculosis and just 3.7 percent of deaths were attributed to cancer. However, in 2005, influenza and pneumonia accounted for just 2.6 percent of deaths while cancer contributed 22.8 percent. The discoveries of chemists, biologists and physicists have radically improved the survival of cancer patients. However, research from the behavioral sciences can help craft interventions that lower the risk of developing the disease at all.

Inducing behavioral change could have a major effect on health outcomes. In 2010, it was estimated that 42.7 percent of the cancers in Britain could be attributed to lifestyle factors, such as obesity, smoking and exercise. Psychological studies shed light on the most effective ways to elicit a lifestyle change. For example, motivational interviewing is a technique used to prompt and support patients in making change. This technique seeks to address ambivalence to change by eliciting patients own motivation. Using this approach to prompt behavioral changerather than confronting or persuading patientsresults in statistically significant improvements in health. Studies have shown that motivational interviewing results in increased weight loss and exercise, decreased viral load among HIV positive patients, and lower blood pressure and cholesterol values.

Another non-traditional discipline that is particularly suited to crafting health interventions is behavioral economics, which combines the fundamentals of economic theory with insights from psychology. Behavioral economics challenges the assumption that humans behave as fully informed and rational actors and instead understands decision-making as a process with predictable biases. For example, psychological and economic studies have shown that humans overvalue immediate rewards and undervalue delayed rewards. In health terms, this means that the immediate joy of a donut is overvalued against the amorphous increased risk of cardiovascular disease in the future. Similarly, the hassle of taking a medication every day may seem more onerous than the potential progression of future disease. Since these biases are predictable, interventions can be be designed to anticipate and counteract the bias, or use bias to predispose us to healthy, rather than unhealthy behavior.

Investigators at the University of Pennsylvania used findings from behavioral economics to create an intervention to increase adherence to warfarin, an anticoagulant that must be taken consistently to be effective. In the study, a machine recorded each time a dose of the medication was taken and gave the patient with an entry in a lottery with small prizes. The incentive increased adherence to medication, better than a simple reminder message. Given the fact that discontinuation of warfarin has major health risks, and patients who discontinue warfarin typically incur an additional $5,000 in annual healthcare expenditures, this intervention could have significant clinical implications.

Information from psychology about human decision makingand human errorcan also be used to help physicians and surgeons provide better care for patients. Industries such as aviation, manufacturing, and nuclear power, have long incorporated research about human error into their systems design. Their systems anticipate and respond to human mistakes, allowing for correction before an error becomes critical. These systems leave nothing to chance or fallible human memory. While medicine has been slower to adopt this mentality, reports suggesting as many as 98,000 die annually as the result of medical errors have spurred action. Simple, evidence-based interventions that anticipate human error can have a major impactimplementing a infection prevention checklist dropped rate of infections in Michigan ICUs by 66 percent.

While translational research has traditionally focused on the hard sciences, human behavior is an increasingly important factor driving morbidity and mortality. In order to address these important challenges, we must widen the focus of translational research to include research that specifically addresses decision-making and behavior. Interventions based on this research can help elicit behavioral change in patients and help protect patients from the inevitable fallibility of medical providers. Just as fundamental discoveries in the hard sciences lead to life saving advances, so too can the discoveries of behavioral sciences.

Lauren Groskaufmanis is a graduate student in the school of medicine. Her column, the picture of health, runs on alternate Fridays.

The Chronicle is your source for Duke news, sports, culture and dialogue.

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New translations - Duke Chronicle

New GOP bill lets companies force you to take genetic tests, lets them share results with third parties – ExtremeTech

A new bill introduced by Virginia Foxx (R-NC) and approved by the House Ways and Means Committee would allow corporations to force employees to undergo genetic testing and then share those results with third parties. In theory, this is already illegal, thanks to a 2008 law known as GINA. This type of behavior is also regulated by the Americans With Disabilities Act (ADA).

The new House bill, HR 1313, gets around these issues by preemptively declaring that workplace wellness programs offered in conjunction with an employers sponsored health care plan shall be considered to be in compliance with GINA, the ADA, and other workplace protections. Given that the relevant section of GINA (section 202(b)(2)) specifically states that it shall be unlawful for employers to gather genetic information on employees without the express permission and consent of the employee in question, the GOP just wrote a privacy-shredding exception into a bill and then quietly passed that bill through committee.

Workplace wellness programs have been controversial because they largely dont seem to work, but remain popular as a method of pushing healthcare costs on to employees. Historically, companies have been allowed to offer these programs (and to enforce fiscal penalties on employees that refuse to meet their goals). But HR 1313 goes farther than simply allowing genetic profiling of employees because an employer offers insurance coverage. The bill actually stipulates that any company with any program with a workplace wellness component can mandate genetic collection whether it provides insurance or not. It also states:

[T]he collection of information about the manifested disease or disorder of a family member shall not be considered an unlawful acquisition of genetic information with respect to another family member as part of a workplace wellness program. [emphasis added]

Under the GOPs bill, which has already passed through one committee vote with 22 Republicans voting for it and 17 Democrats against, it would be explicitly legal for companies to collect genetic information on your family members. Its also legal for them to share that information with third parties, in complete and total abrogation of the privacy protections passed in 2008.

The American Society for Human Genetics has blasted the bill:

H.R.1313 would effectively repeal these protections by allowing employers to ask employees invasive questions about their and their families health, including genetic tests they, their spouses, and their children may have undergone. GINAs requirement that employees genetic information collected through a workplace wellness program only be shared with health care professionals would no longer apply.

HR 1313 is a travesty. It guts previous protections passed by Congress intended to protect the most fundamentally personal information any human possesses their own genetic code. It would allow corporations to share that data with third parties for analysis without stripping it of identifying information (GINA forbids this, but 1313 supersedes GINA). It would allow companies to levy fines up to 30% of the cost of health premiums on the employees who fail to cooperate. The ASHG notes that the average premium cost for employees in 2016 was $18,142, meaning families could face an additional $5,443 in premium costs per year for refusing to hand over their genetic and health information.

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New GOP bill lets companies force you to take genetic tests, lets them share results with third parties - ExtremeTech

Researchers discover genetic bases of Opitz C syndrome – News-Medical.net

March 10, 2017 at 1:31 PM

Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world. A team led by the professors Daniel Grinberg and Susana Balcells, from the Group on Human Molecular Genetics of the University of Barcelona and the Biomedical Research Networking Center of Rare Diseases (CIBERER) has now identified a gene that causes the Opitz C syndrome in the only patient in Catalonia diagnosed with this severe congenital disease. This new scientific advance is a first step to discover the genetic bases of this syndrome which, so far, does not offer treatment possibilities, prenatal diagnosis or genetic counseling.

The new study, published in the journal Scientific Reports, has the participation of several researchers at the CRG, including members of the Genomic and Epigenomic Variation in Disease laboratory, the genomics unit, and the bioinformatics unit. It also had the participation of John M. Opitz (University of Utah, United States), Giovanni Neri (Catholic University of the Sacred Heart, Italy) and experts at the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron (VHIR).

Opitz C syndrome: rare but not invisible

The genetic bases of this ultra-minority disease, described for the first time in 1969 by John M. Opitz, are still unknown. It is generally thought that its origin is caused by the apparition of dominant -maternally silenced- novo mutations. At the moment, the diagnose is clinical and it is based on the symptomatology presented on patients with different degrees (trigonocephaly, learning disability, psychomotor disability, etc.) and which, in lots of cases, coincides with similar minority pathologies such as the syndromes of Schaaf-Yang, Bohring-Opitz and Prader-Willi.

In the new study, the experts described for the first time, the existence of a novo mutation -p.Q638*- located in the gene MAGEL2 of the only diagnosed person with Opitz C syndrome in Catalonia. Identifying this mutation, found in the Prader-Willi Region on chromosome 15, widens the knowledge horizons on genetics and the possibilities for a diagnosis on these rare diseases.

"The p.Q638* mutation, identified in the gene MAGEL2, coincides with the one described concurrently and independently in a patient with Schaaf-Yang syndrome, a new minoritary disease affecting fifty people in the world. The first cases were described on a scientific bibliography in 2013 by the team of Professor Christian Schaaf, from the Baylor College of Medicine, Houston", says Professor Daniel Grinberg, member of the Institute of Biomedicine of the University of Barcelona (IBUB), the Research Institute of Sant Joan de Du (IRSJD) and CIBERER.

"Consequently, from a genetic diagnosis perspective -says DanieL Grinberg- this patient initially diagnosed with Opitz C in Catalonia would correspond to the group of patients with Schaaf-Yang syndrome"

Genetics will define the limits of rare diseases

Identifying the genes that cause a disease is a breakpoint to understand the pathology and set new future therapeutic approaches that improve the quality of life of the patients. In the new study, the teams of the UB and the CRG applied techniques of DNA massive sequencing (exome and genome), a powerful methodology that allows identifying altered genes in each patient.

According to Luis Serrano, director of CRG, "projects like this one show the important role of genomics in the future of medicine and the way on which we diagnose and treat diseases. To understand the diseases and offering not only a diagnosis but also approaches to possible treatments is very relevant in minority diseases. It is a satisfaction for the CRG to contribute with our knowledge and advanced technologies in a project that gives hope to a vulnerable collective" concluded the researcher.

Susana Balcells, tenured lecturer at the UB and also member of IBUB and CIBERER, added "what we can see from a clinical symptomatology view in these kinds of diseases which are so hard to study and diagnose, is far from the initial molecular defect that generates the disease".

"All these clinical doubts -continued Balcells- will be solved with genetics, which will define the limits of these rare diseases and will ease the scientific consensus on the diagnosis and genetic causes that create them".

Crowdfunding: when society supports scientific research

The members of the Group of Human Molecular Genetics of the University of Barcelona and the CRG are currently in contact with the team of Professor Schaaf and three families of patients diagnosed with Schaaf-Yang syndrome in the Iberian Peninsula.

In December 2026, the first author of the study published in Scientific Reports, Roser Urreitzi, researcher of CIBERER and lecturer at the UB, coordinated the meeting between the experts and the affected families. The meeting took place at the Faculty of Biology of the University of Barcelona and was a new encouragement for the collaboration of researchers and affected families in future projects with the participation of the UB, CRG and CIBERER Biobank, in Valencia. This cooperation has also allowed the three patients to be examined by the same clinical expert: the pediatrician Dr Anna M. Cueto, assistant doctor and clinical geneticist at the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron in Barcelona. This is clearly a new progress in the field of ultra-minority diseases.

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Researchers discover genetic bases of Opitz C syndrome - News-Medical.net

Saving GINA: Is Genetic Privacy Imperiled? – PLoS Blogs (blog)

A bill that passed its first hurdle yesterday in Congress threatens to take away genetic privacy protections put in place with the Genetic Information Nondiscrimination Act(GINA) of 2008.H.R.1313, the Preserving Employee Wellness Programs Act, might instead be called the telling on relatives ruling.

GINA

According to GINA, employers cant use genetic information to hire, fire, or promote an employee, or require genetic testing, and health insurers cant require genetic tests nor use results to deny coverage. The law clearly defines genetic tests DNA, RNA, chromosomes, proteins, metabolites and genetic information genetic test results and family history of a genetic condition.

GINA refers to a case,Norman-Bloodsaw v. Lawrence Berkeley Labfrom 1998, that allowed clerical and administrative workers to sue their employer for requiring testing for highly private and sensitive medical genetic information such as syphilis, sickle cell trait, and pregnancy without their consent or knowledge during a general employee health exam. Im not sure how syphilis and pregnancy got lumped in with sickle cell trait (a carrier), but requiring any such test is considered an illegal search under the Fourth Amendment. The sickle cell request also violates Title VII of the Civil Rights Act by singling out employees of African ancestry.

Yesterday the bill passed its first mark-up session, and will either head for the next markup with the Ways and Means Committee or become part of a package of health-care-related bills that goes to the House floor soon, according to Derek Scholes, PhD, the American Society of Human Genetics (ASHG) director of science policy, who attended the session.

Nancy J. Cox, PhD, ASHG president, in a letter to the U.S. House Committee on Education and the Workforce, provides a frightening overview:

If enacted, this legislation would undermine fundamentally the privacy provisions of the Genetic Information Nondiscrimination Act (GINA) and the Americans with Disabilities Act (ADA). It would allow employers to ask employees invasive questions about their and their families health, as well as genetic tests they and their families have undergone. It would further allow employers to impose stiff financial penalties on employees who choose to keep such information private, thus empowering employers to coerce their employees into providing their health and genetic information.

Single-gene diseases are unlike other health conditions or clinical findings, such as infections or high serum cholesterol readings, because a diagnosis in one person reveals risks to relatives in accordance with Mendels laws. A 24-year-old school bus driver in perfect health, for example, whose parent receives a diagnosis of Huntingtons disease, could under the new bill face queries from an employer or health insurer about the 50% risk.

ALL IS NOT WELL(NESS)

The bill isbuilt around an exception in GINA concerning genetic testing that is part of health or genetic services the employer offers, such as part of a wellness program. However, GINA stipulates that only the person and the health care provider or board certified genetic counselor can view the results. GINA also spells out that genetic testing as part of a wellness program must be entirely voluntary.

A May 16, 2016, ruling from the Equal Employment Opportunity Commissionlaid the groundwork for penalizing employees who refuse to answer questions about their or their spouses health. This could amount to thousands of dollars a year, according to a report from the Kaiser Family Foundation. H.R.1313 would make that even worse.

It would further permit workplace wellness programs to penalize much more severely employees who wish to keep their genetic and health information private, allowing penalties of up to 30 percent of the total cost of an employees health insurance, Dr. Cox writes. And the Public Health Service Act permits an increase to 50%. Penalties of this magnitude would compel Americans to choose between retaining the privacy of their health and genetic information and accessing affordable health insurance.

Is charging for the right to enjoy the genetic privacy that was once mandated by law a mechanism to underwrite the new health care plan?

REPERCUSSIONS

H.R.1313 would effectively repeal the fundamental genetic and health privacy protections in GINA and the ADA. It would allow workplace wellness programs to ask employees questions about genetic tests taken by themselves or their families, and to make inquiries about the medical history of employees, their spouses, their children, and other family members, Dr. Cox writes.

Other family members harkens back to GINA, bastardizing its protections, for the 2008 law casts a wide net for relatives, down to the fourth degree.

While first-degree relatives are a persons children, siblings, and parents, and second-degree are grandparents, grandchildren, uncles, aunts, nephews, nieces, and half-siblings, third-degree relatives extend to great-grandparents, great grandchildren, great uncles/aunts, and first cousins, and, ridiculously, fourth-degree relatives to great-great-grandparents, great-great-grandchildren, and first cousins once-removed. I remember my disappointment when I realized that the notifications of new fifth cousins pouring into my email after taking an ancestry test were pretty meaningless, since we each have more than 4,000 of them.

Also worrisome is that the new mandate reeks of genetic determinism, the idea that genotype dictates phenotype.

Genetic information alone does not a diagnosis make. Thats why a clinical diagnosis considers symptoms and results of other types of tests. And while the example of the young bus driver with a family history of HD lies at an extreme because people who inherit the mutation nearly always develop the disease, that situation of complete penetrance is unusual. Most inherited diseases are incompletely penetrant some people with a disease-associated genotype may never develop the condition due to protections from other genes (see Why do healthy people have harmful mutations?here). Another repercussion of H.R.1313 is that it might frighten people away from participating in clinical trials.

I also fear misunderstanding on the part of people charged with analyzing anyones genetic fitness, so to speak, on the basis of a list of mutations or other gene variants. Remember the sickle cell screen of the early 1970s? That was adisasterbecause many parents thought that a finding of children having sickle cell trait meant that they had or would develop the disease. I was even told off-the-record that at least one parental suicide resulted from the well-meant but widespread misinformation.

Will wellness coaches serve as the go-betweens for employees and employers, and if so, how much genetics do they know? Would a wellness coach know that the Huntingtons disease that is in the family of the active and healthy 24-year-old takes many years to develop, even after the first symptoms appear? I didnt see any hard science requirements in this job descriptionor a few others. (Im thinking of the Pilates instructors who have told me that I am lengthening my spine, but thats probably not the same thing.)

The letter from ASHG urges the committee not to support H.R.1313, and to encourage workplace wellness programs without sacrificing employees civil rights. All Americans should be free to participate in genetic research or benefit from genetics-based clinical advances without fear of genetic discrimination, Dr. Cox concludes.

As we gear up to encourage folks to participate in the Precision Medicine Initiativeby contributing their personal genome information, the direct to consumer genetic testing industryis not only alive and well but growing, and loading our genome sequences onto our smartphonesis no longer science fiction, H.R.1313 seems to be coming at a most inopportune time. Lets hope the 1313 is bad luck for its passage!

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Saving GINA: Is Genetic Privacy Imperiled? - PLoS Blogs (blog)

State-of-the-art national fertility centre of excellence opens in Cork – TheCork.ie

7 March 2017 By David OSullivan david@TheCork.ie

Irish-owned Waterstone Clinic, formerly known as Cork Fertility Centre, has opened a state-of-the-art national centre of excellence at Lotamore House in Cork. The 13,000 sq ft advanced fertility unit is a major architectural and technological achievement and features a world-class laboratory with the latest embryology technology. The new development has also brought a significant boost to employment in Cork, with staff numbers at the clinic increasing by 30% to 55.

Waterstone Clinic, which consistently has one of the highest live birth rates in Europe, includes Cork Fertility, now relocated from its College Road premises to Lotamore House, as well as Waterford Fertility and Limerick Fertility. Due to the increasing number of patients travelling from Dublin, a fourth clinic, Dublin Fertility, has opened on Leeson Street.

Speaking about the new centre at Lotamore House, Medical Director of Waterstone Clinic, Dr John Waterstone said: We have been at the forefront of reproductive medicine in Ireland for 15 years and our facility in Cork reflects our achievements and ambitions as a national reproductive health care provider of the highest calibre. We believe we have created the most advanced fertility unit in the country which will allow us to provide an even better service for our patients.

Lotamore House is a historic 18th century Cork building, and we have sympathetically refurbished and restored it, preserving its fine period details while incorporating modern facilities and comforts. We have endeavoured to make a visit to Lotamore House as stress-free as possible for patients, with generous parking, spacious waiting areas and an interior design that maximises privacy.

The 1,500 sq ft laboratory space features the latest embryology technology including a large cryopreservation storage area and a dedicated Preimplantation Genetic Diagnosis (PGD) laboratory. PGD is a highly complex reproductive technology that prevents debilitating genetic conditions being passed on to children, and in 2014, the clinic announced the birth of the first baby in the Republic after PGD for cystic fibrosis.

The comprehensive range of treatments at Waterstone Clinic include IVF, ICSI, surgical sperm retrieval including MicroTese, sperm donation, egg donation, PGD and Pre-Implantation Genetic Screening (PGS). As the clinics medical consultants also hold Health Service Executive consultant posts, they can directly manage the care of any patients who require hospital admission or surgery.

The cutting-edge clinic is also the first in Ireland to use the new time-lapse incubator, EmbryoScope Plus. The system, which allows for the comprehensive monitoring of embryo development, will be provided free-of-charge.

Dr Waterstone stated: Most clinics in Ireland using time-lapse technology charge patients extra for the service. This practice reflects a trend towards increasing and undesirable commercialisation of assisted reproduction. I have long campaigned for regulation to combat the financial exploitation of vulnerable patients through expensive add-on investigations and treatments. Until such guidelines are in place, it is the responsibility of fertility clinics across the country to self-regulate and deliver honest advice and ethical management.

A series of patient information seminars will be held at Waterstone Clinic. The first seminar is on Thursday, March 23rd. Register at http://www.waterstoneclinic.ie/events

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State-of-the-art national fertility centre of excellence opens in Cork - TheCork.ie