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Posts Tagged ‘mental health

Science Policy Around the Web – June 26, 2018

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By: Maryam Zaringhalam, PhD

 

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Women in STEMM

Sexual harassment is rife in the sciences, finds landmark US study

On June 12, the National Academy of Sciences, Engineering, and Medicine released their report: Sexual Harassment of Women: Climate, Culture, and Consequences in Academic Sciences, Engineering, and Medicine. The 311-page report is the most comprehensive study on the topic, characterizing the problem of sexual harassment in academia and providing a series of evidence-based recommendations to combat harassment. The problem is pervasive in academia, with over 50 percent of women faculty and students reporting harassment, which is second only to the military’s 69 percent incidence. While sexual harassment is most often thought of as unwanted sexual advances, the report defined three classes of harassment, broadening this traditional conception: (1) gender harassment; (2) unwanted sexual attention; (3) sexual coercion. Gender harassment is the most prevalent form, which conveys the idea that women don’t belong in the workplace, for instance, by implying inferiority or telling demeaning jokes.

The report also documented the toll sexual harassment takes on academic achievement and career development, with consequences on mental and physical health that can lead to decreased participation in research and leadership, as well as leaving academia entirely. Authors of the report also have pointed out that harassment isn’t restricted to women alone, and that underrepresented minorities (including racial, ethnic, sexual, and gender minorities) have increased risk of harassment The resulting loss of talent deals a major blow to research integrity and progress in STEMM fields.

The study honed in on factors that contribute to harassment, with the largest predictor being institutional organization and environment, including a lack of understanding of the problem and potential mitigation strategies among leadership. The committee put forth a number of recommendations to address the problem. Strategies include treating sexual harassment as scientific misconduct (similar to a policy issued by the American Geophysical Union), improving transparency and accountability within institutions, and increasing diversity and inclusion through anti-harassment and civility-promotion programs.

The consensus study was prepared by the Committee on Women in Science, Engineering, and Medicine and was sponsored by NSF, NASA, NIH, NIST, NOAA, the Burroughs Wellcome Fund, the Henry Luce Foundation, and the Howard Hughes Medical Institute.

(Alexandra Witze, Nature)

Public health

What separation from parents does to children: “The effect is catastrophic”

On June 20th, the Trump administration announced the President would sign an executive order to end the controversial policy separating minors from their parents at the border. The policy had garnered a great deal of opposition from mental health professionals citing research that separation has lasting effects on child welfare and development. The American Academy of Pediatrics, the American College of Physicians, and the American Psychiatric Association had all issued statements warning of the traumatic effects of family separation. Over 13,000 mental-health professionals and 229 organizations have also signed a petition urging the administration to end the policy.

The effects of family separation have long been documented in case studies around the world—from state-run orphanages under Romanian dictator Nicolae Ceausescu’s regime to Australian aboriginal children removed from their families. The effects range from post traumatic stress disorder to lower IQ to a higher risk of addiction later in life.

Notably, the executive order has not alleviated the concerns of the professional societies that expressed concerns about the original policy. The EO maintains the “zero tolerance” policy on illegal border crossings, which will continue to place children in detention facilities. It also does not specify whether or how separated families will be reunited in the future. At least 2,342 children have been separated from their parents between May 5 and June 9, and experts note that even if children are reunited with their parents soon, the trauma will have lasting effects into the future.

(William Wan, Washington Post)

 

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June 26, 2018 at 4:55 pm

Science Policy Around the Web – April 10, 2018

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By: Allison Dennis B.S.

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Mental Health

Many People Taking Antidepressants Discover They Cannot Quit

15 million American adults have taken antidepressants for a period longer than five years, in spite of the fact that these drugs were originally approved for short-term treatment, lasting less than nine months. Many doctors agree that a lifetime prescription may be necessary for the treatment of some patients. However, many are concerned that some patients may simply be accepting long-term use of antidepressants when faced with the challenge of stopping.

Surveys have shown that choosing to stop long-term medications is not a straightforward process with many patients reporting withdrawal effects. Some antidepressants take weeks to break down and leave the body, and their absence can induce feelings of anxiety, insomnia, nausea, “brain zaps,” and even depression itself. Antidepressants are one of the most frequently prescribed therapeutics by physicians, yet the drugs’ labels do not outline how to end a prescription safely. Patients may have to turn to online resources, including  The Withdrawal Project, which provides a community based approach to provide support, but whose writers are self-described as “laypeople who have direct personal experience or who have supported someone else in the process of reducing or tapering off psychiatric medication,” but are not medical professionals.

The benefits of antidepressants in the treatment of depression is undeniable, leaving government regulators cautious about limiting their availability. Antidepressant manufacturers appear unwilling to dive into research characterizing the discontinuation syndrome experienced when patients try to stop, feeling their efforts to demonstrate the drugs are safe and effective is sufficient. Academic and clinical researchers have occasionally tackled the issue, but few studies have looked at the barriers facing open-ended antidepressant prescription holders.

(Benedict Carey and Robert Gebeloff, The New York Times)

Alzheimer’s Disease

Scientists Push Plan To Change How Researchers Define Alzheimer’s

Currently, the 5.7 million Americans living with Alzheimer’s are identified through a panel of symptoms including memory problems or fuzzy thinking. However these symptoms are the product of biological changes scientists feel may be an earlier and more accurate marker of disease. On the biological level, Alzheimer’s can be characterized by the accumulation of several characteristic structures in brain tissue including, plaques, abnormal clusters of protein that accumulate between nerve cells, tangles, twisted fibers that form inside dying cells, and the build up of glial cells, which ordinarily work to clear debris from the brain. It is unclear if these changes are driving the widespread disconnection and destruction of neurons exhibited in the parts of the brain involved in memory and later in those responsible for language and reasoning in the brains of Alzheimer’s patients or just a byproduct of a yet-to-be-discovered process.

A work group formed by collaborators at the National Institute on Aging and the Alzheimer’s Association are putting forward a research framework which defines Alzheimer’s by the progression of a panel of risk factors, including neuropathology, tangles, plaques, and neurodegeneration. By allowing these biomarkers to fall along a continuum, the group is accommodating the observation that the exhibition of these traits can vary widely between individuals and may not always co-occur with symptoms. Yet the framework is intended to “create a common language with which the research community can test hypotheses about the interactions between Alzheimer’s Disease pathologic processes.”

Although much of the research is preliminary, specialized brain scans and tests of spinal fluid are already being designed to identify these biomarkers directly. The biomarkers included on the continuum can be observed 20-30 years prior to symptoms, fostering the hope that early interventions could be implemented to slow disease progression or even prevent it in the first place.

(Jon Hamilton, NPR)

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April 11, 2018 at 6:11 pm

Science Policy Around the Web – February 2, 2018

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By: Michael Tennekoon, PhD

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Bias in research

Gender bias goes away when grant reviewers focus on the science

Increased scrutiny has been given to the knowledge that there is a lack of senior female faculty in science. Many reasons have been postulated for this, including a lack of appropriate mentoring, a lack of adequate support when balancing family needs, and a general bias in the field. Highlighting the possible impact of bias, a new study from Canada shows that women are rated less favorably than men when reviewers assess the researcher as compared to when reviewers assess the research proposed on a grant application.

To address the issue of gender bias, the Canadian Institutes of Health Research (CIHR) phased out traditional grant programs that focused on both the science and the investigator. Instead, they ran two parallel programs, in which one focused primarily on the applicant’s credentials and the other focused on the science proposed. In addition, reviewers were trained to recognize unconscious biases that may impact the impartiality of their review decisions.

When grant reviewers focused on the quality of the applicant, the success rate for male applications was 4% higher than for female applicants. When grant reviewers instead focused on the quality of the science that was proposed, this gap reduced significantly to 0.9%, a level similar to traditional grant funding programs.

Furthermore, the impact of training reviewers on unconscious bias was of particular interest. Previous work suggested this type of training could exacerbate the situation, however, in this case, training appeared to help the situation by reducing the gap in successful applications between genders. The authors of the current study are planning to further explore the intricacies of how the training could be neutralizing some of the unconscious bias.

While a strength of this study was that it accounted for applicant’s research areas and age, this study was not randomized, which could have impacted the results. For example, there could have been a sample bias based on who chose to apply for the grants, which could have resulted in differences between male and female applicants in various aspects of their applications (such as publication records).

Is this gender bias prevalent in the United States as well?

Somewhat encouragingly, research has shown that males and females are funded at equivalent rates early in their careers by the NIH. Of graver concern, however, is that the research also showed that the number of women who apply for funding drops dramatically as their careers progress. As funding success rates do not appear to contribute to this, other factors, such as a lack of senior role models and mentors, or inadequate support for women that wish to have children and continue working in research, may contribute to the drop in female faculty in research. It is also important to note that biases are not limited to gender, but also exist with race. A 2011 study showed that white researchers are funded at nearly twice the rate of African American researchers despite similar publication and training records. While approaches such as those used by CIHR may help increase representation in senior faculty positions, solutions that tackle systemic biases may be needed to address the full scope of the problem.

(Giorgia Guglielmi, Nature News)

Influence of Social Media

Google’s new ad reckons with the dark side of Silicon Valley’s innovations

Studies have shown a rise in the number of teen suicides and self harm in recent years. There is growing concern that an increase in the amount of time spent on social media is playing a role in increasing the rates of teen suicide. Conscientious of this, Google recently debuted a new advertisement to highlight mental health implications of social media and other modern technology. The advertisement starts off by showing pictures of people sharing happy moments and pictures. However, the advert then pivots to suggest that not everything is as it seems in the perfect pictures, as all the people involved had sought support through the national suicide prevention number at one point in time.

Recent research has raised questions about the effects of social media, in particular with the ‘pressure of perfection’ and the impact it can have on social media users. Specifically, the research shows that users who passively scroll through news feeds could be most susceptible to feelings of unhappiness. In addition to this effect, technology companies are under fire for helping to spread offensive material. A recent pertinent example of this was when Logan Paul documented on YouTube how he discovered a dead body in a Japanese forest known for suicides. Furthermore, after Netflix aired ‘13 reasons why’, a documentary centered on a teen’s suicide, googles searches for suicide methods spiked. Alarmingly it has been documented that searches about suicide are linked to individuals committing suicide.

Large technology companies such as Facebook, Apple, Google and others are making efforts to try to rectify the situation. Facebook has begun using artificial intelligence to recognize suicidal thoughts and connect affected individuals with first responders. However, the capability of these companies to effectively prevent suicides is limited by the essence of what these companies are designed to be. For example, while a Google search asking how to commit suicide will display resources to suicide prevention resources and hotline numbers to the user, the search will also bring up pages detailing the “right way” to commit suicide along with would be instructional videos on YouTube. Clearly these companies still have much work to do when it comes to reducing teen suicide rates.

(Drew Harwell, The Washington Post)

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February 2, 2018 at 1:11 pm

Science Policy Around the Web – June 16, 2017

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By: Emily Petrus, PhD

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Science and Politics

Politics in Science – It’s Not Just the U.S.!

Romania is a country in eastern Europe that joined the European Union (EU) in 2007. Scientists there are few and far between; research spending only accounts for 0.49% of GDP, the lowest in Europe (the US spent 2.7% in 2016). After joining the EU, Romanian researchers were encouraged to apply for European merit-based grants and sit on international review boards such as the National Research Council and the National Council of Ethics. It seemed that research was making slow but steady progress, but the new administration elected this year has shaken things up in all facets of government, including scientific research.

The new research minister, Serban Valeca, removed the international members appointed to government councils that oversee research funding, ethics, innovation and science policy, and replaced them with city council members, government-loyal union members, researchers from second tier Romanian institutes and even a surgeon being investigated for embezzlement. Grant review panels have been shuffled to remove international scientists and replace them with domestic researchers, but only if they have a certificate saying their university approves of their participation. These changes mark a departure from welcoming international input into Romanian proceedings and a movement towards scientific isolation.

To combat these changes, Romanian scientists have formed an organization, Ad Astra, which calls on researchers to boycott grant evaluations. Combined with the shuffling, the councils have been suspended for 3 months, which delays funding and puts already under-funded researchers in peril. The European University Association calls the policies deeply concerning, and although the current president may disagree with the research minister’s handling of the situation, his political ties ensure he won’t hold much sway over how this plays out. A computer scientist at the University Politehnica in Bucharest, Costin Raiciu, is concerned that the policies will affect talented researchers who have returned to Romania and says, “Without [merit-based] funding, people would either give up research altogether or move out of the country”. This is an all too familiar scenario in which it is apparent that policy and science must cooperate to produce ideal outcomes. (Alexandra Nistoroiu, ScienceInsider)

Mental Health

Clinical Trials Down, Basic Research Up at NIMH

Mental health is a notoriously tricky field. The development of the Diagnostic and Statistical Manual of Mental Disorders (DSM) in the 1950s has historically been a way to diagnose patients with mental health issues, and then give appropriate treatment. This has proved to be an imprecise treatment strategy, because within a category of diagnosis there is a broad spectrum of behaviors, and underlying this behavior there may be multiple causes. The NIH’s Precision Medicine Initiative (PMI) seeks to characterize 1,000,000 people by behavior, genetics, environment, and physiology. Researchers from the NIMH will send questionnaires evaluating behavior to detect mood and reward responses for this group of people. When this mental health evaluation is combined with information about their genetics, lifestyle and environment, scientists can characterize mental health disorders more specifically.

Many clinician researchers are upset by the steep decline in clinical trial research funded by NIMH, which has become higher profile with director Joshua Gordon’s arrival in 2016. NIMH seeks to route funding to study mental disorders using a basic research approach before spending time and money on costly clinical trials which too often lead to inconclusive or disappointing results. In 2011 NIMH launched the Research Domain Criteria (RDoC), which encourages research proposals to include a hunt for the mechanism underlying mental health studies. Since the initial call to include a RDoC perspective in grant applications, the incidence of RDoC appearing in funded applications has increased while mention of the DSM has decreased. Other buzzwords that are present in funded grants include biomarker, circuit, target and mechanism.

These data represent a shift in how funding decisions will proceed in mental health but may have broader reaching implications for other areas of research. In a blog post Dr. Gordon writes, “the idea that RDoC will facilitate rapid, robust and reproducible neurobiological explanations for psychopathology (as observed within and across DSM disorders) represents a hypothesis”. It remains to be seen if RDoC is an effective metric to evaluate successful grants. (Sara Reardon, Nature News)

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Mental Health Policy and its Impact on the American Population

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By: Fatima Chowdhry, MD

           In the last 50 years, the U.S. has seen a migration in which individuals diagnosed with a mental illness, defined by the Diagnostic and Statistical Manual of Mental Disorders as “a syndrome characterized by clinically significant disturbance in an individual’s cognition, emotion regulation, or behavior”, are treated not in a mental health institution but rather in prisons, nursing homes, and outpatient facilities. To understand the implications of this trend, it’s important to frame this issue as a cascade of events. For example, we can start with a member of law enforcement, not adequately trained to recognize someone in the throes of a manic phase or a schizophrenic not on their medication, arresting an individual with a mental illness. We then find that this individual, upon release, did not receive treatment and now has trouble reintegrating into their community and is unable to find gainful employment. The combination of a lack of treatment, stable community, and employment leads them to continuous run-ins with the law, restarting a vicious cycle that had led us to a prison population in which the majority has a mental illness.

The move to deinstitutionalize people with mental illness from mental institutions began in the 1960’s and accelerated with the passage of the Community Mental Health Act of 1963. This bill was an important step forward to improve the delivery of mental health care because it provided grants to states to set up community health centers. In 1981, President Ronald Reagan signed the Omnibus Budget Reconciliation Act, which sent block grants to states in order for them to provide mental health services. Aside from these two bills, and the Mental Health Parity Act of 1996, which ensured insurance coverage parity of mental health care with other types of health care, there has been little in the way of significant mental health legislation. Mental health was put on the backburner and the result is a mental health infrastructure in tatters.

During the Great Recession, states cut billions in funding dedicated to mental health. A vivid example of how decreased state funding affects mental health services can be seen in the state of Iowa. The current Governor has been put in the difficult position of balancing fiscal responsibility with maintaining access to mental health care. At one point, there were four state mental health hospitals that provided care to each corner of the state. The Governor closed down two of the facilities to save the state money. While they were old facilities built in the 19th century and cost millions to maintain, many people in Iowa felt that he moved too quickly before alternative services were in place. In addition to closing these mental health facilities, the governor obtained a waiver from the federal government to modernize the state’s Medicaid program and move from fee-for-service to managed care. Under fee-for-service, health care providers are paid for each service provided to a Medicaid enrollee. Under managed care, Medicaid enrollees get their services through a vendor under contract with the state. Since the 1990s, the share of Medicaid enrollees covered by managed care has increased, with about 72% of Medicaid enrollees covered by managed care as of July 1, 2013. The move can be difficult because hospital networks and providers have to contract with a vendor and Medicaid beneficiaries may have to switch providers. Needless to say, it can be an administrative nightmare. The transition in Iowa, to say the least, has been rocky with the vendors threatening to pull out because of tens of millions of dollars in losses. The vendors and the providers might not get paid as much as they want but the people getting the short end of the stick are people on Medicaid, which includes individuals with mental health illnesses.

Given the patchwork of mental health care across the country and the lack of funding, what can be done? According to NAMI, 43.8 million Americans experience a mental illness in a year. Many don’t receive the treatment they need. It’s a multi-faceted problem facing families, employers, health care providers and community leaders. At the federal level, lawmakers have introduced several bills to address mental health. In the United States Senate, a bipartisan group of four Senators introduced S. 2680, the Mental Health Reform Act of 2016. This bill encouraged evidence-based programs for the treatment of mental illness, provided federal dollars to states to deliver mental health services for adults and children, and created programs to develop a mental health workforce.

It was encouraging to see that many components of S.2680 were included in H.R 34, the 21st Century Cures Act, which was signed into law on December 13th, 2016.  H.R 34 faces some headwinds because some of the funding portions are subject to Congressional appropriations, and if Congress is feeling austere, they can tighten the purse strings. Moving forward, a major issue of concern for mental health is the future of the Affordable Care Act. Under the Affordable Care Act, states were initially mandated to expand their Medicaid rolls. A Supreme Court decision, however, made the decision to expand optional. So far 32 states, including Washington D.C., have expanded. Some red states, like Iowa, Arkansas and Indiana have utilized the waiver process of the ACA to expand their program. If the ACA is repealed, policymakers will have to contend with the effects on the private insurance market as well as Medicaid.

Right now, the crystal ball is murky. Only time will tell.

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December 22, 2016 at 10:45 am

How Much Neuroscience Funding is the Right Amount?

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By: Brian Russ, PhD

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       Scientific funding can be a very tricky proposition. Unfortunately, there is a finite amount of money that is put towards science each funding cycle. This means that at any given time funding agencies need to decide where they believe their funds will be best spent. Every funding cycle, one can find different groups lamenting that their favorite topic is “being underfunded” while some other group is getting “too big a piece of the pie”. There is often no right answer to the question of how much is the right amount of funding to provide different topics, and the likelihood is that at the end of the day every group will feel that they are not getting the right amount of respect and funding.

This debate has come to the forefront recently in the fields of psychiatry and neuroscience with a change in the leadership at the National Institute of Mental Health (NIMH). In September, Dr. Joshua Gordon became the new director of the NIMH. Dr. Gordon’s directorship of the NIMH comes after a 13-year period of leadership by Dr. Tom Insel. During the previous administration, there had been an increasing focus on funding neuroscience related work, often at the expense of purely behavioral work, such as cognitive behavioral therapies for psychiatry patients. It is important to point out that the NIMH’s definition of neuroscience research includes basic, translational, and clinical neuroscience research. This direction led to a new research framework for studying mental health disorders termed the Research Domain Criteria (RDoC), which has a very strong neuroscience component. The goal of RDoC is to provide a new framework in which researchers and clinicians can study and treat mental health disorders. The RDoC framework involves neuroscience components of brain circuits and physiology, and cognitive components of behavior and self-reports. The end goal is to provide a more comprehensive description of mental health disorders with the intention of developing cures and treatments. This push toward RDoC, and more neuroscience in general, has led to both praise and criticism of where the NIMH is directing its funding opportunities.

Recently, an opinion piece was published in the New York Times stating that the NIMH needs to reverse their push towards more neuroscience. Specifically, Dr. Markowitz, a research psychiatrist from Columbia University, believes that the NIMH has been funding neuroscience at the expense of clinical psychological research, in the absence of a brain oriented component. His argument is that in the current funding environment only 10% of the NIMH’s research budget is going towards clinical research. From the content of his article the research he is speaking of involves behavioral studies and interventions that contain no neuroscience component. Dr. Markowitz brings up many important points, and his main thesis that we cannot forget about behavioral interventions while pursuing the biological bases of clinical disorders is critical. For example, he makes the strong point that neuroscience research is unlikely to help solve the problem of suicide. And his final argument is for a “more balanced approach to funding clinical and neuroscience research.”

However, one can argue what that balance should actually look like. Is ten percent of the budget actually a small amount? And does that number include the multitude of basic neuroscience studies that are investigating the neural underpinning of a given disease? For example, based on the NIH reporter, schizophrenia research has been funded for approximately 250 million dollars for each of the last three years. A quick look at the total budget (32.3 billion in 2016, with ~25 billion going to research grants) suggests that that would be on the order of about 1% of the total NIH research budget. This is only one disease, and is being calculated from the whole NIH budget, not just from the NIMH budget. Only a portion of that funding is going towards clinical research, as Dr. Markowitz would define it, however the rest of that funding is going to research that will in all likelihood provide clinical benefits to patients down the road, in the form of new physiological targets or potentially new drugs.

So how can one make a determination about the correct of amount of funding that should go towards different mental health fields? Should 25% or 50% of the budget go towards clinical research? It seems that comparing the percent of money going to clinical research versus neuroscience is simply a bad comparison. Neuroscience is not one homogenous topic; it includes tens of, if not over a hundred, different fields. The various mental health fields fighting each other over funding doesn’t help anyone. Both neuroscience and clinical research need to be funded. It seems that the best way to divide the funding from NIMH would not be to specify what field gets priority but instead to fund the best grants regardless of whether there is a specific component involved. This would open the door to more clinical research while not requiring a shift in the priorities of the NIMH, whose mission is to understand and treat mental illnesses though both basic and clinical research. For instance, RDoC already contains both behavioral and self-report components. These components should be given as much priority as the other neuroscience components. If 10% of the budget is given to behavioral work, in this way, that would seem reasonable, possibly even greater than other areas might be getting.

On a final note, while we should always be looking internally at how we are funding different types of science, and if we, the public, are getting our money’s worth out of projects, it is also important for us to ensure that science funding as a whole is increasing. The current funding environment has been relatively static for years. We need, through advocacy and outreach, to get the public and government to provide more funding opportunities to the NIH. As the saying goes “a rising tide raises all boats”.

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November 17, 2016 at 6:53 pm

Science Policy Around the Web – November 8, 2016

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By: Saurav Seshadri, PhD

Source: pixabay

Mental Health Research

FET Flagships: lessons learnt

The European Commission (EC), the executive body of the European Union, launched two major Future and Emerging Technologies (FET) Flagship projects in 2013, with funding of about 1 billion euros each. Both aim to foster collaboration and scientific innovation over a period of 10 years, in the fields of neuroscience (the Human Brain Project or HBP) and material chemistry (the Graphene Flagship). As these projects transition to the infrastructure construction phase, which has been funded for the next two years, the EC has released a statement reflecting on the first, ‘ramp-up’ phase of these high-level initiatives.

The assessment presented of the Flagships’ success is uniformly positive; the Directors write that they ‘create amazing collaboration opportunities’, ‘mobilis[e]…enthusiastic young researchers’, and ‘spread an innovation mind-set in Europe’. The EC expects this evaluation to be corroborated by an independent review by a panel of experts, due to be published in early 2017. Key insights from the initial phase include the power of flagships to foster international community-building, the importance of balanced and transparent governance and management, and the need to fine-tune the size and composition of the Consortium of funding entities over time.

A driving force behind some of these lessons is the controversy that has faced the HBP almost since its inception: in 2014, a group of leading neuroscientists sent a protest letter to the EC stating that the HBP was ‘not a well-conceived or implemented project’. The letter now has more than 800 signatures, and led to the formation of mediation committee, based on whose recommendations in 2015 the HBP dissolved its executive board and significantly changed its scientific focus. The recent release of long-gestating computational tools has also helped address criticism. In navigating these challenges and moving forward, the HBP merits attention for its similarity to our own BRAIN Initiative in scope, methodology, and scale. (European Commission)

HIV/AIDS

HIV’s patient zero exonerated

Gaetan Dugas was a French Canadian airline steward whose cooperation with CDC researchers helped identify sexual contact as a key step in HIV transmission in 1984. Unfortunately, this contribution earned him the label of ‘Patient Zero’ for HIV in the United States, which, along with an influential book that portrayed him as an unrepentant and malicious spreader of the disease, led to his widespread condemnation. On a larger scale, this characterization of the epidemic was a setback in the fight against homophobia, even at the policy level: in 1988, a Presidential Commission on HIV recommended that behavior among gay men that ‘fail[s] to comply with clearly set standards of conduct’ be criminalized.

However, a recent study in Nature has found ‘neither biological nor historical evidence’ that Dugas was the primary case of HIV in the US. The authors used a highly sensitive method to recover and sequence viral RNA from samples collected in the late 1970s, which revealed that HIV most likely jumped from Africa to the US via the Caribbean in approximately 1971, and that Dugas’ HIV genome was typical of US cases far downstream of ancestral strains. Ignorance may explain how scientists and the public in the 1980s came to scapegoat Dugas: with our current understanding of HIV’s long incubation period, it appears possible that many of Dugas’ partners could have contracted the disease years before they met him.

According to Dr. Anthony Fauci, director of NIAID, “The history of diseases has always been, in part, that someone needs to be blamed.” This study highlights the scientific and ethical pitfalls inherent to this mentality. (Sara Reardon, Nature News)

Schizophrenia

Schizophrenia secrets found hidden in the folds of DNA

Schizophrenia is known to be highly heritable, but the individual genes conferring risk for the disease have remained elusive. Advances in sequencing capabilities have allowed researchers to vastly increase the statistical power of studies aimed at identifying these genes: one such large-scale effort, the Psychiatric Genomics Consortium (PGC), identified over 100 common variants associated with schizophrenia, by using more than 36,000 cases and 100,000 controls. While progress has been made in understanding how some of these mutations contribute to changes in gene expression and brain network development, the majority remain unexplained. One obstacle is the fact that many of the loci are in regulatory regions, often without any obvious nearby target gene.

A recent study from Dr. Daniel Geschwind’s group at UCLA addresses this problem by showing that many non-coding variants identified by the PGC actually do contact genes involved in brain development, when the 3-dimensional structure of chromatin is taken into account. The authors used a cutting-edge technique called chromosome conformation capture to generate high-resolution maps of physical interactions between regulatory regions and genes. This approach revealed that loci of previously indeterminate function may in fact influence pathways linked to schizophrenia, including neurogenesis and cholinergic signaling.

Coming on the heels of another study, which used whole exon sequencing in about 5,000 cases to show that rare variants contribute to risk for schizophrenia, these findings represent significant progress towards understanding the mechanistic implications of genome-scale data in psychiatric disorders. This understanding is a key step towards using such data to develop personalized treatment strategies, which may be a priority for Dr. Geschwind, as he was appointed head of precision medicine efforts in the UCLA Health System in March. The above approach can also be generalized to other neurodevelopmental disorders (a prime candidate is autism, for which Dr. Geschwind helped establish the world’s largest gene bank), and holds great promise for the future of care for these devastating diseases. (Tim Newman, Medical News Today)

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November 8, 2016 at 9:00 am