In Case You Missed it: Science Stories from Around the Web

We love good science stories here at the Mass General Research Institute and wanted to share a few of our favorites from other health and science websites. Enjoy!

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The best and worst analogies for CRISPR, ranked

From a knockout punch to an act of God, CRISPR technology has drawn comparisons to a vast array of things. Here is a list of 10 analogies ranked from worst to best. (STAT)


Is ‘Man Flu’ real? Men suffer more when sick, study suggests

A research team in the United Kingdom found evidence that men may have a weaker immune response to the viruses that cause the flu or common cold, and as a result, men may have a greater risk for serious symptoms.


It’s time to stop excluding people with disabilities from science

You can be a great scientist without being able to carry a 50-pound backpack out of cave, writes Gabriela Serrato Marks, a Marine Geologist at the Massachusetts Institute of Technology.


Altmetric’s Top 100 Articles of the Year

In the past year, Altmetric has tracked over 18.5 million mentions of 2.2 million research outputs. Here are the Top 100 ranked in order of their Altmetric Attention Score as of Nov. 15, 2017.


What is really driving the Altmetric’s Top 100 Articles List

“There is a data availability problem plaguing Altmetric’s annual top 100 list,” argues Kent Anderson of Scholarly Kitchen in this detailed critical breakdown of how the rankings are compiled. But Anderson also concludes that “Overall, the Top 100 list remains interesting, and perhaps data availability and other elements will improve over time.”


How loneliness affects our health

Scientists are gaining a more refined—and surprising—understanding of the effects of loneliness and isolation on health. (New York Times)


Jawdropping images reveal science is amazing

Photos are said to be worth “a thousand words.” And that’s what the Royal Society looks for when judging images for their Publishing Photography Competition, which celebrates the power of photography to communicate science.


Study: Opioids overused in migraine treatment, regardless of race

African Americans are more likely to experience debilitating migraine headaches than whites, but a new study probing the issue found no evidence of racial disparities in treatment practices. Instead, researchers from the University of Michigan report a different finding that affects everyone: opioid overuse.


Check out this video of perspiration on a human fingertip

This incredible up close video shows drops of sweat forming on the ridges of human fingertips. It was the second place winner in the video portion of the Nikon Small World Competition this year.


Neuroscience can learn a lot from Buddhism

A scientist and a monk compare notes on mediation, therapy and their effects on the brain. (Atlantic Monthly)

Study Identifies New Targets for Huntington’s Disease Research

Ghazaleh Sadri-Vakili, PhD, is the director of the NeuroEpigenetics Laboratory at Massachusetts General Hospital’s Institute for Neurodegenerative Diseases (MIND).  Her work investigating the genetics of Huntington’s disease was recently featured in an article on the Mass General Giving website.

Here are five things to know:

  1. Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. Symptoms typically start occurring between the ages of 30 and 50. The disease is highly heritable—each child of a parent with HD has a 50% chance of inheriting the faulty gene.
  2. According to the Huntington’s Disease Society of America (HDSA), symptoms of HD typically begin with a loss of coordination and cognitive skills. These declines get more pronounced as the disease progresses. In late stages, HD patients lose the ability to walk and speak, and choking becomes a major concern. Death is typically due to complications from the disease and not the disease itself.
  3. Researchers at Massachusetts General Hospital have been at the forefront of research into the genetic underpinnings of Huntington’s disease for the past two decades. In 1983, a team led by James Gusella, PhD, identified the section on chromosome 4 where the HD gene was located. In 1993, a multi-institutional research group that included Marcy E. MacDonald, PhD, and Dr. Gusella identified the gene itself.
  4. Recently, a research team led by Ghazaleh Sadri-Vakili, PhD, has been studying how gene expression differs in patients with HD. Her team has identified two ways in which a genetic pathway known as the Hippo pathway malfunctions in HD. These malfunctions cause HD patients to produce too much of an enzyme called MST, and not enough of a protein called YAP.
  5. If researchers are able to identify drugs that correct this imbalance, they may be able to develop treatments that slow or halt the progression of the disease.

Weekend Links

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We’ve hand-picked a mix of Massachusetts General Hospital and other research-related news and stories for your weekend reading enjoyment:

Creative Minds: A New Way to Look at Cancer

Better Patient-Provider Communication Needed for Obesity Care

Eugenics 2.0: We’re at the Dawn of Choosing Embryos by Health, Height, and More

6 Speaking Tips for Scientists and Engineers (editor’s note: Melissa Marshall, featured in this article, recently spoke to Mass General clinicians about how to effectively present scientific work. We were so impressed by her talk that we wanted to introduce her to our readers) 

Looking for a great book for the young scientist in your life? The long list of 2018 AAAS/Subaru SB&F (Science Books and Films) Prize winners for Excellence in Science Books has been released. Prizes are awarded each year in the following categories:

  • Children’s Science Picture Books
  • Middle Grade Science Books
  • Young Adult Science Books
  • Hands on Science Books

See the full list here

 

Top photo: courtesy of Tim Lahan, MIT Technology Review

Team Effort Finds First Definitive Answers to Complex Genetic Basis of Tourette Syndrome

A large scale analysis of genetic information from individuals with Tourette syndrome led by researchers at Massachusetts General Hospital and UCLA has identified alterations in two genes that significantly increase the risk of developing the disorder.

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A team effort between genetic researchers, clinicians, a patient advocacy group and volunteer study participants has revealed new genetic insights into Tourette syndrome—a neuropsychiatric disorder that results in involuntary physical and verbal tics.

The study helps to confirm the theory that Tourette syndrome results from a complex series of genetic changes rather than a single mutated gene. It may also provide comfort for individuals with the disorder, who are often stigmatized for their uncontrollable movements and outbursts.

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Continue reading “Team Effort Finds First Definitive Answers to Complex Genetic Basis of Tourette Syndrome”

Biobank Reveals Novel Research Kiosks

At the Partners HealthCare Biobank, everyone has the ability to help shape the future of healthcare. The Biobank is a research initiative that brings patients, clinicians, and investigators together to make research discoveries that improve care for generations to come. Patients are asked to provide consent, a blood sample, and take a health survey. These contributions are used in cutting edge research projects on a variety of health conditions.

On April 28th the Biobank unveiled two interactive research kiosks located in the Wang and Yawkey 2 lobbies. The main objective of the kiosks is to raise awareness of the project throughout Mass General. The kiosks are a novel tool to help build a partnership between patients and researchers. They are also one of many initiatives implemented by the Biobank to make involvement in medical research more accessible to patients. Our community’s engagement with the Biobank is crucial because the more people who join, the more power researchers have to make discoveries that impact our health.

Patients are invited to help the Biobank with this progression of innovative research by learning more online at www.partners.org/biobank. At the Biobank, discovery starts with you.

Raising Awareness of Belly Fat and Its Impact on Men’s Health

Body-Type-BannerDid you know that in addition to June being Men’s Health Month in the United States, this week (June 12th-18th) is Men’s Health Week in the UK? The focus this year is on belly fat which tends to be more prevalent in men than women.

Regardless of a person’s overall weight, belly fat—also called abdominal adiposity— can increase the risk for developing a number of health issues including colorectal cancer, stroke and sleep apnea.

A recent study by researchers at Massachusetts General Hospital also found that individuals who have a genetic disposition for belly fat were at a higher risk of developing both diabetes and heart disease when compared to individuals who store fat primarily in their hips and thighs.

While genetics are a big factor in where fat gets stored, proper diet and exercise can help lessen the risk.

 

Stay tuned for more posts about men’s health all this week leading up to Father’s Day.

Missing Genes Point to New Drug Targets

34702881 - background high tech image of dna moleculeThe Human Genome Project provided a ‘parts-list’ of genes, about 18,000 in number. Now, researchers are studying what it means to be missing a part. In an analysis of the genomes of 10,000 research participants, Mass General’s Dr. Sekar Kathiresan and his research team found 1,300 genes which were broken in at least one participant. For example, several individuals were missing a working copy of the APOC3 gene and as a result, these individuals had lower blood levels of fat and were protected from heart attack.

Such examples help us understand the function of a gene in humans and also point to new drug targets. This study sets the stage for an ambitious ‘Human Knockout Project’, a systematic effort to understand gene function by identifying and characterizing humans who naturally lack a gene.

Interested in learning more on this study? Check out this post from the NIH Director’s Blog. For more information about Dr. Kathiresan’s work with Mass General’s Center for Genomic Medicine, visit their website.

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Genetic Studies Reveals New Clues to Hereditary High Blood Pressure

High blood pressure is a major cause of heart disease and stroke. We know that half the risk of developing high blood pressure is due to inherited factors, but until recently we only understood two percent of the genetic reasons for that risk.

But researchers at Massachusetts General Hospital are now a step closer to understanding the genetic underpinnings of high blood pressure after two multi-institutional studies identified 44 new gene sites associated with the condition.

The findings suggest that new treatments targeting factors other than salt excretion—the typical strategy for controlling high blood pressure—could help with the condition. Christopher Newton-Cheh, MD, MPH, was senior author of the two studies that reported these findings.

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