Snapshot of Science is a monthly digest of publication summaries, press releases and blog posts featuring researchers from Massachusetts General Hospital.

Welcome to the July 2018 edition of Snapshot of Science. Here's a quick look at some recent publications, press releases and stories about the Mass General research community.

In this issue we highlight:

  • 20 new studies published in high impact journals, along with 14 summaries submitted by the research teams
  • 11 new research-related press releases from the Mass General Public Affairs office
  • 9 posts from the Mass General Research Institute blog

Publications

*Author-submitted summaries available when indicated

EFFECT OF FOLIC ACID ON CHILD BRAIN DEVELOPMENT
Association of Prenatal Exposure to Population-Wide Folic Acid Fortification With Altered Cerebral Cortex Maturation in Youths
Eryilmaz H, Dowling KF, Huntington FC, Rodriguez-Thompson A, Soare TW, Beard LM [et al.], Roffman JL
Published in JAMA Psychiatry on July 3, 2018 | *Summary available | See press release


REVEALING PRINCIPLES OF CELLULAR REPROGRAMMING
Prospective Isolation of Poised iPSC Intermediates Reveals Principles of Cellular Reprogramming
Schwarz BA, Cetinbas M, Clement K, Walsh RM, Cheloufi S, Gu H [et al.], Hochedlinger K
Published in Cell Stem Cell on July 4, 2018 | *Summary available


LOOKING AT GENES ASSOCIATED WITH CORONARY ARTERY DISEASE BIOMARKER
Deep Coverage Whole Genome Sequences and Plasma Lipoprotein(a) in Individuals of European and African Ancestries
Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T [et al.], Kathiresan S, Natarajan P
Published in Nature Communications on July 4, 2018 | *Summary available


IMPACT OF HIGH-DOSE STEROID HORMONES ON SUBSET OF PATIENTS WITH MELANOMA
High‐dose Glucocorticoids for the Treatment of Ipilimumab‐induced Hypophysitis is Associated with Reduced Survival in Patients with Melanoma
Faje AT, Lawrence D, Flaherty K, Freedman C, Fadden R, Rubin K, Cohen J, Sullivan RJ
Published in Cancer on July 5, 2018 | *Summary available


NEW GENETIC INSIGHTS RELATED TO FOOD CHOICES
Genome-wide Meta-analysis of Macronutrient Intake of 91,114 European Ancestry Participants From the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium
Merino J, Dashti HS, Li SX, Sarnowski C, Justice AE, Graff M [et al.], Tanaka T
Published in Molecular Psychiatry on July 9, 2018 | *Summary available


EXPANDING OUR UNDERSTANDING OF HOW FOXO1 GENE CONTROLS T CELL GROWTH AND METABOLISM
Maintenance of CD4 T Cell Fitness Through Regulation of Foxo1
Newton RH, Shrestha S, Sullivan JM, Yates KB, Compeer EB, Ron-Harel N [et al.], Turka LA
Published in Nature Immunology on July 9, 2018


NEW METHOD EXTENDS OUR ABILITY TO CONTROL AND MANIPULATE PARTICLES
Oscillatory Inertial Focusing in Infinite Microchannels
Mutlu BR, Edd JF, Toner M
Published in PNAS on July 10, 2018 | *Summary available


EXPLORING LINK BETWEEN HERPES AND ALZHEIMER'S DISEASE
Alzheimer’s Disease-Associated β-Amyloid Is Rapidly Seeded by Herpesviridae to Protect against Brain Infection
Eimer WA, Vijaya Kumar DK, Navalpur Shanmugam NK, Rodriguez AS, Mitchell T, Washicosky KJ [et al.], Tanzi RE, Moir RD
Published in Neuron on July 11, 2018 | *Summary available | See press release


ANALYZING AND COMPARING GUT BACTERIA IN MOTHERS AND NEWBORNS
Strain-Level Analysis of Mother-to-Child Bacterial Transmission during the First Few Months of Life
Yassour M, Jason E, Hogstrom LJ, Arthur TD, Tripathi S, Siljander H [et al.], Xavier RJ
Published in Cell Host Microbe on July 11, 2018 | *Summary available


DERIVING A NEW BENCHMARK DATASET
A Synthetic-diploid Benchmark for Accurate Variant-Calling Evaluation
Li H, Bloom JM, Farjoun Y, Fleharty M, Gauthier L, Neale B, MacArthur D
Published in Nature Methods on July 16, 2018


HOW ORGANISMS DETECT AND AVOID HARMFUL BACTERIA
Thioredoxin Shapes the C. Elegans Sensory Response to Pseudomonas Produced Nitric Oxide
Hao Y, Yang W, Ren J, Hall Q, Zhang Y, Kaplan JM
Published in eLife on July 17, 2018 | *Summary available | See press release


SYSTEM FOR DEFINING SITE-SPECIFIC DNA INCREASES AND REPLICATIONS
Cross-talk Between Lysine-Modifying Enzymes Controls Site-Specific DNA Amplifications
Mishra S, Van Rechem C, Pal S, Clarke TL, Chakraborty D, Mahan SD [et al.], Whetstine JR
Published in Cell on July 19, 2018


EFFECT OF VITAMIN D SUPPLEMENTATION ON CANCER RISK
Monthly High-Dose Vitamin D Supplementation and Cancer Risk: A Post Hoc Analysis of the Vitamin D Assessment Randomized Clinical Trial
Scragg R, Khaw KT, Toop L, Sluyter J, Lawes CMM, Waayer D, Giovannucci E, Camargo CA Jr
Published in JAMA Oncology on July 19, 2018


NEW MODEL FOR RETT SYNDROME AND INSIGHTS INTO IMPROVING SYMPTOMS
Tsix–Mecp2 Female Mouse Model for Rett Syndrome Reveals That Low-level MECP2 Expression Extends Life and Improves Neuromotor Function
Carrette LLG, Blum R, Ma W, Kelleher III RJ, Lee JT
Published in PNAS on July 23, 2018 | *Summary available | See press release


NEW LOW-COST POINT-OF-CARE DEVICE FOR DIAGNOSING AGGRESSIVE LYMPHOMA
Design and Clinical Validation of a Point-of-care Device for the Diagnosis of Lymphoma via Contrast-enhanced Microholography and Machine Learning
Im H, Pathania D, McFarland PJ, Sohani AR, Degani I, Allen M [et al.], Castro CM, Weissleder R
Published in Nature Biomedical Engineering on July 23, 2018 | *Summary available


INVESTIGATING THE FUNCTION OF REPETITIVE DNA IN CANCER GENE EXPRESSION
Epigenome Editing of Microsatellite Repeats Defines Tumor-specific Enhancer Functions and Dependencies
Boulay G, Volorio A, Iyer S, Broye LC, Stamenkovic I, Riggi N, Rivera MN
Published in Genes & Development on July 24, 2018 | *Summary available


IDENTIFYING AN IMMUNE SYSTEM MECHANISM THAT REGULATES INFLAMMATION
Nitric Oxide Engages an Anti-inflammatory Feedback Loop Mediated by Peroxiredoxin 5 in Phagocytes
Graham DB, Jasso GJ, Mok A, Goel G, Ng ACY, Kolde R [et al.], Xavier RJ
Published in Cell Reports on July 24, 2018 | *Summary available


GENETIC MUTATIONS IN PATIENTS WITH A TYPE OF BLOOD CANCER
Spliceosome Mutations Induce R loop-Associated Sensitivity to ATR Inhibition in Myelodysplastic Syndrome
Nguyen HD, Leong WY, Li W, Reddy PNG, Sullivan JD, Walter MJ, Zou L, Graubert TA
Published in Cancer Research on July 27, 2018


NEW STRATEGY FOR EDITING DNA
An APOBEC3A-Cas9 Base Editor with Minimized Bystander and Off-target Activities
Gehrke JM, Cervantes O, Clement MK, Wu Y, Zeng J, Bauer DE, Pinello L, Joung JK
Published in Nature Biotechnology on July 30, 2018


NEW UNDERSTANDING INTO DEVELOPMENT OF CHROMOSOME DISORDER
Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome
Guner-Ataman B, González-Rosa JM, Shah HN, Butty VL, Jeffrey S, Abrial M, Boyer LA, Burns CG, Burns CE
Published in Cell Reports on July 31, 2018 | *Summary available


Publication Summaries

1. EFFECT OF FOLIC ACID ON CHILD BRAIN DEVELOPMENT
Association of Prenatal Exposure to Population-Wide Folic Acid Fortification With Altered Cerebral Cortex Maturation in Youths
Eryilmaz H, Dowling KF, Huntington FC, Rodriguez-Thompson A, Soare TW, Beard LM [et al.], Roffman JL
Published in JAMA Psychiatry on July 3, 2018

With converging evidence that risk for schizophrenia, autism, and other serious mental illness (SMI) begin in the womb, it makes sense to focus on interventions during pregnancy that can enhance brain health and resilience. Using MRI scans, we studied nearly 1,400 children who were born just before, during, or after the late 1990s rollout of government-mandated folic acid fortification of grain products. We found that children and adolescents who were exposed to fortification during pregnancy showed changes in the development of their cerebral cortex that protected against psychotic symptoms. This new evidence opens the door to a range of new studies that could point to primary prevention in psychiatry, akin to other public health interventions such as vaccines.

(Summary submitted by Joshua Roffman, MD, of the Department of Psychiatry)


2. REVEALING PRINCIPLES OF CELLULAR REPROGRAMMING
Prospective Isolation of Poised iPSC Intermediates Reveals Principles of Cellular Reprogramming
Schwarz BA, Cetinbas M, Clement K, Walsh RM, Cheloufi S, Gu H [et al.], Hochedlinger K
Published in Cell Stem Cell on July 4, 2018

Cellular reprogramming allows scientists to convert adult cells into an embryonic stem cell-like state. This technology has exciting implications for regenerative medicine and disease modeling. However, the underlying mechanisms remain largely unexplored due to the low efficiency of the process. To address this, we identified and isolated those rare cells that are poised to give rise to stem cell-like cells at early stages of reprogramming. Molecular dissection of these cells revealed novel principles of the reprogramming process. These results provide fundamental insights not only into the reprogramming process itself but into cell fate change in general. Our data will facilitate the generation of stem cell-like cells from adult cells and may lead to new strategies to derive other therapeutically relevant cell types.

(Summary submitted by Konrad Hochedlinger, PhD, of the Department of Molecular Biology)


3. LOOKING AT GENES ASSOCIATED WITH CORONARY ARTERY DISEASE BIOMARKER
Deep Coverage Whole Genome Sequences and Plasma Lipoprotein(a) in Individuals of European and African Ancestries
Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T [et al.], Kathiresan S, Natarajan P
Published in Nature Communications on July 4, 2018

Despite advances, coronary artery disease (CAD) is the leading cause of premature death worldwide. Lipoprotein(a) is a circulating particle that is similar to LDL (the carrier of “bad cholesterol”), but is not captured by standard lipid tests, and influences risk of CAD. Given that lipoprotein(a) levels are largely determined by genetics, we performed the most comprehensive genetic characterization of lipoprotein(a) to-date and identified various genetic regulators of lipoprotein(a). We also showed that knowing the specific genetic regulators of lipoprotein(a) may be more informative than knowing lipoprotein(a) levels itself for CAD risk prediction. Pharmacologic agents to lowering lipoprotein(a) are in development; our approach may help identify patients more likely to benefit from such agents.

(Summary submitted by Pradeep Natarajan, MD, MMSc, of the Department of Cardiology and Medicine)


4. IMPACT OF HIGH-DOSE STEROID HORMONES ON SUBSET OF PATIENTS WITH MELANOMA
High‐dose Glucocorticoids for the Treatment of Ipilimumab‐induced Hypophysitis is Associated with Reduced Survival in Patients with Melanoma
Faje AT, Lawrence D, Flaherty K, Freedman C, Fadden R, Rubin K, Cohen J, Sullivan RJ
Published in Cancer on July 5, 2018

Pituitary inflammation (hypophysitis) is a disorder that very rarely occurs on its own but can be a side effect of immune checkpoint inhibitors (CPIs) for cancer therapy, in particular following treatment with a medication named Ipilimumab. Some symptoms of hypophysitis, such as pituitary hormone deficiencies, can persist indefinitely in some patients. High doses of anti-inflammatory medications like prednisone are often necessary to treat other side effects of CPIs, but this may not be the case for hypophysitis. Our study suggested that high doses of these medications do not appear to benefit patients with hypophysitis and that a strategy of supportive care with replacement-level doses may be associated with improved outcomes for the underlying malignancy.

(Summary submitted by Alexander Faje, MD, of the Department of Medicine and Neuroendocrinology)


5. NEW GENETIC INSIGHTS RELATED TO FOOD CHOICES
Genome-wide Meta-analysis of Macronutrient Intake of 91,114 European Ancestry Participants From the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium
Merino J, Dashti HS, Li SX, Sarnowski C, Justice AE, Graff M [et al.], Tanaka T
Published in Molecular Psychiatry on July 9, 2018

Previous research has shown that unhealthy food choices are a major contributor to the escalating obesity and type 2 diabetes epidemics worldwide. Emerging science indicates that, in addition to demographic, cultural and psychological factors, genetic mutations may also impact food choices and make some more susceptible than others to unhealthy food choices. In this study, we identify two novel genetic variants in humans that influence dietary intake, and confirm two previously documented genetic variants. These findings could improve our understanding of appetite control, help identify individuals who are at higher risk of unhealthy food choices, and point to new targets for drugs to control eating behavior.

(Summary submitted by Jordi Merino, PhD, of the Department of Medicine)


6. NEW METHOD EXTENDS OUR ABILITY TO CONTROL AND MANIPULATE PARTICLES
Oscillatory Inertial Focusing in Infinite Microchannels
Mutlu BR, Edd JF, Toner M
Published in PNAS on July 10, 2018

Although there are microfluidic technologies to sort and isolate large bioparticles such as circulating tumor cells or blood cells, no such approaches currently exist for submicron-scale particles. Yet, there are many important applications in clinical medicine for this particle size range, including isolation of exosomes, fungi, bacteria, and viral particles. In this paper we describe a new approach called "oscillatory inertial microfluidics" as a label-free and high-throughput technology for cell and submicron-scale particle manipulations. This approach could potentially enable a variety of new applications in clinical diagnosis.

(Summary submitted by Baris Mutlu, PhD, and Mehmet Toner, PhD, of the Department of Surgery)


7. EXPLORING LINK BETWEEN HERPES AND ALZHEIMER'S DISEASE
Alzheimer’s Disease-Associated β-Amyloid Is Rapidly Seeded by Herpesviridae to Protect against Brain Infection
Eimer WA, Vijaya Kumar DK, Navalpur Shanmugam NK, Rodriguez AS, Mitchell T, Washicosky KJ [et al.], Tanzi RE, Moir RD
Published in Neuron on July 11, 2018

This new study reveals that a key Alzheimer's disease (AD) protein protects against herpes viruses in brain by trapping them within insoluble deposits called amyloid. High amyloid accumulation drives AD pathology. Complementary findings from other researchers to be published with the new study show herpes virus are more active in AD brain. Hence, elevated viral replication in patients may be increasing amyloid deposition and accelerating the progression of AD. Taken together, these two studies raise the possibility that antiherpes medications may help slow the onset of dementia for patients with herpes brain infections.

(Summary submitted by Robert Moir, PhD, of the Department of Neurology)


8. ANALYZING AND COMPARING GUT BACTERIA IN MOTHERS AND NEWBORNS
Strain-Level Analysis of Mother-to-Child Bacterial Transmission during the First Few Months of Life
Yassour M, Jason E, Hogstrom LJ, Arthur TD, Tripathi S, Siljander H [et al.], Xavier RJ
Published in Cell Host Microbe on July 11, 2018

The human intestines contain a community of bacteria, called the microbiome, that is essential for health. Infants acquire their microbiomes in part from their mothers, but precisely how the microbiome is established at birth and develops during early life are relatively unknown. Our study examining the microbiomes of 44 infants and their mothers provides a comprehensive analysis of which bacteria are transferred from mother to infant and how gut microbial communities develop during a baby's early days.

(Summary submitted by Ramnik Xavier, MD, PhD, and Theresa Reimels, of the Department of Gastroenterology and Medicine)


9. HOW ORGANISMS DETECT AND AVOID HARMFUL BACTERIA
Thioredoxin Shapes the C. Elegans Sensory Response to Pseudomonas Produced Nitric Oxide
Hao Y, Yang W, Ren J, Hall Q, Zhang Y, Kaplan JM
Published in eLife on July 17, 2018

Nitric oxide is a colorless gas found in the air that is also produced and released by harmful bacteria known as Pseudomonas aeruginosa. Our team looked at how roundworms interact with Pseudomonas aeruginosa. We found that the nitric oxide gas produced by Pseudomonas aeruginosa alerts roundworms and lets them know to stay away from the bacteria. These results deepen our understanding of how harmful bacteria is detected and evaded by different organisms.

(Summary submitted by Joshua Kaplan, PhD, of the Department of Molecular Biology)


10. NEW MODEL FOR RETT SYNDROME AND INSIGHTS INTO IMPROVING SYMPTOMS
Tsix–Mecp2 Female Mouse Model for Rett Syndrome Reveals That Low-level MECP2 Expression Extends Life and Improves Neuromotor Function
Carrette LLG, Blum R, Ma W, Kelleher III RJ, Lee JT
Published in PNAS on July 23, 2018

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. To treat RTT, reactivating the dormant copy of MECP2 on the inactive X has been of considerable interest. Although potential therapeutics have been identified, their development has been hampered by the lack of a suitable female mouse model and uncertainty regarding how much MECP2 needs to be restored. Here, we create a female model with a more severe phenotype, including a short lifespan, neuromotor impairment, and repetitive behaviors often seen in human RTT. Significantly, we found that restoring 5–10% of MECP2 extends lifespan by eightfold and improves RTT phenotypes. Our study thus provides a much-needed female model and implies potential therapeutic benefit with low-level MECP2 expression.

(Summary submitted by Jeannie Lee, MD, PhD, and Lieselot Carrette, PhD, of the Department of Molecular Biology)


11. NEW LOW-COST POINT-OF-CARE DEVICE FOR DIAGNOSING AGGRESSIVE LYMPHOMA
Design and Clinical Validation of a Point-of-care Device for the Diagnosis of Lymphoma via Contrast-enhanced Microholography and Machine Learning
Im H, Pathania D, McFarland PJ, Sohani AR, Degani I, Allen M [et al.], Castro CM, Weissleder R
Published in Nature Biomedical Engineering on July 23, 2018

In resource-poor countries, ready access to pathologists and diagnostic equipment is the exception. Our team developed a technology that integrates computational optics with artificial intelligence to render cancer diagnoses at the point of care. Specifically, we created a portable and fully automated device that extracts and interprets sophisticated information from biopsy images using computer-driven algorithms refined by prior hardware training to distinguish cancerous from non-cancerous cells. In an MGH study, device results compared favorably with conventional pathology results; diagnostic performance was accurate 95% of the time. Next, we will deploy the technology in Botswana, Africa where limited chemotherapy stockpiles require judicious diagnostic approaches. By decentralizing the diagnostic work-up, increased opportunities to engage more individuals with proper cancer care could help relieve significant pathology bottlenecks.

(Summary submitted by Cesar Castro, MD, of the Department of Medicine, and Oncology/Hematology)


12. INVESTIGATING THE FUNCTION OF REPETITIVE DNA IN CANCER GENE EXPRESSION
Epigenome Editing of Microsatellite Repeats Defines Tumor-specific Enhancer Functions and Dependencies
Boulay G, Volorio A, Iyer S, Broye LC, Stamenkovic I, Riggi N, Rivera MN
Published in Genes & Development on July 24, 2018

Ewing sarcoma is the second most common pediatric bone cancer and is characterized by genetic lesions that generate an abnormal fusion protein known as EWS-FLI1 that is the main driver of tumor growth. Our lab had previously shown that EWS-FLI1 binds and activates repetitive sequences in the genome known as GGAA microsatellites. In the present study, we used new CRISPR-based epigenome editing tools to silence specific repeat elements and directly show that they control the expression levels of neighboring genes that are necessary for the survival of tumor cells. The research demonstrates the importance of repeat elements in cancer and may point to new therapeutic strategies.

(Summary submitted by Miguel Rivera, MD, of the Department of Pathology)


13. IDENTIFYING AN IMMUNE SYSTEM MECHANISM THAT REGULATES INFLAMMATION
Nitric Oxide Engages an Anti-inflammatory Feedback Loop Mediated by Peroxiredoxin 5 in Phagocytes
Graham DB, Jasso GJ, Mok A, Goel G, Ng ACY, Kolde R [et al.], Xavier RJ
Published in Cell Reports on July 24, 2018

When our body’s defense cells detect harmful pathogens, they kill them and alert rest of the immune system. Sometimes this killing goes overboard, and our defense system starts attacking healthy cells leading to a condition called autoimmunity. In our study, we used human genetics, genome wide screens and mouse models to identify a “feedback loop” in our immune system that stops inflammation before it can become a threat to the body. Our future research may look at the possibility of discovering pathway small molecules (medicines) which can induce this protective feedback loop in IBD patients.

(Summary submitted by Ramnik Xavier, MD, PhD, of the Department of Medicine, and Gastroenterology)


14. NEW UNDERSTANDING INTO DEVELOPMENT OF CHROMOSOME DISORDER
Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome
Guner-Ataman B, González-Rosa JM, Shah HN, Butty VL, Jeffrey S, Abrial M, Boyer LA, Burns CG, Burns CE
Published in Cell Reports on July 31, 2018

A small deletion on chromosome 22q11 that contains the gene TBX1 causes DiGeorge or 22q11 deletion syndrome (DS) in humans that is characterized by devastating heart, aorta, and craniofacial malformations. Although Tbx1-deficient mice and zebrafish recapitulate many of these disease phenotypes, the mechanism by which Tbx1 regulates development of these structures has remained unclear. We discovered that zebrafish lacking tbx1 fail to specify the nkx2.5+ progenitor cell lineage that gives rise to the affected structures, providing a novel paradigm that potentially explains disease pathogenesis in newborns.

(Summary submitted by Caroline Burns, PhD, and Geoffrey Burns, PhD, of the Department of Medicine)


Press Releases

Prenatal Exposure to Folic Acid Fortification of Foods May Reduce Mental Illness Risk
Featuring Joshua Roffman, MD, MMSc

A Massachusetts General Hospital study finds that fortifying grain-based foods with folic acid – instituted to prevent neural tube defects in infants – may also reduce the incidence of severe mental illnesses such as schizophrenia that initially appear in young adulthood.


Expanding Primary Care Buprenorphine Treatment Could Curb Opioid Overdose Crisis
Featuring Sarah Wakeman, MD

Expanding the availability of medication treatment for opioid use disorder in primary care settings would be a major step toward reducing overdose deaths, write two physicians specializing in addiction medicine and health care delivery.


Amyloid Beta Protein Protects Brain From Herpes Infection by Binding To, Entrapping Viral Particles
Featuring Rudolph Tanzi, PhD, and Robert Moir, PhD

A Massachusetts General Hospital study has found the mechanism by which amyloid beta – the protein deposited into plaques in the brains of patients with Alzheimer’s disease – protects from the effects of herpes viruses commonly found in the brain.


Study Analyzes Opioid Overdose Risk During Pregnancy, Postpartum Period, Among Mass. Women
Featuring Davida Schiff, MD, MSc

A study from research team consisting of investigators from the Mass. Department of Public Health and several academic medical centers, led by a MassGeneral Hospital for Children physician, found that opioid overdose events decreased during pregnancy, reaching their lowest level during the third trimester, but then increased during the postpartum period, becoming significantly higher during the second six months after delivery.


Nitric Oxide Tells Roundworms to Avoid Bad Bacteria
Featuring Yingsong Hao, PhD

Nitric oxide gas produced by a type of harmful bacteria lets roundworms know to stay away from it, says a new study co-authored by a Massachusetts General Hospital investigator.


Limited Restoration of MECP2 Gene Expression May Relieve Symptoms in Rett Syndrome
Featuring Lieselot Carrette, PhD, and Jeannie T. Lee, MD, PhD

A Massachusetts General Hospital research team has developed a new female mouse model for the neurodevelopmental disorder Rett syndrome and in the process found evidence that relieving symptoms of the genetic disorder may require only partial expression of the normal copy of the involved gene.


Protease Inhibitors May Increase Risk of Cardiovascular Death in People with HIV and Heart Failure
Featuring Tomas Neilan, MD, MPH

A Massachusetts General Hospital study finds that patients with both HIV infection and heart failure who take a certain class of antiviral drugs may be at greater risk for worsening heart failure and cardiovascular death than patients with HIV who take other antiviral drugs.


Researchers Aim to Catalogue Global Microbiomes -- While There's Still Time
Featuring Ramnik Xavier, MD

As industrialized lifestyles threaten microbial diversity, a new international effort will preserve gut microbes from the world’s remotest regions.


Researchers Discover Region of the Brain Thought to Play Role in Parkinson's Symptoms
Featuring Juho Joutsa, PhD

A team of investigators at Beth Israel Deaconess Medical Center and Massachusetts General Hospital has identified a little understood sheet of neurons called the claustrum as the likely origin of neurologic symptoms most commonly seen in Parkinson’s disease.


Microfluidic System Incorporates Neuroinflammation into 'Alzheimer's in a Dish' Model
Featuring Rudolph Tanzi, PhD

Building on their development of the first culture system to replicate fully the pathology behind Alzheimer’s disease, a Massachusetts General Hospital research team has now produced a system that includes neuroinflammation, the key biological response that leads to the death of brain cells.


Nano-optic Endoscope Sees Deep into Tissue at High Resolution
Featuring Melissa Suter, PhD, and Hamid Pahlevaninezhad, PhD

A new class of endoscopic imaging catheters developed at Massachusetts General Hospital and the Harvard Paulson School of Engineering and Applied Sciences can overcome many limitations of current systems.

Blog Posts

Studying the Connection Between Sleep and Anxiety
Featuring Edward F. Pace-Schott, PhD

Anxious people often don’t sleep well and poor sleep is a symptom of many psychiatric disorders, including anxiety. However, poor sleep itself may lead to anxiety disorders — studies show that sometimes sleep problems begin before a person develops severe anxiety symptoms. Why might this be the case? Learn how Edward F. Pace-Schott, an investigator in the Sleep and Anxiety Disorders Laboratory at Massachusetts General Hospital, is using sleep recordings, brain imaging and physiological measurements to study the relationship between sleep and anxiety.


Research Scholars: The Power of Bold Giving and Big Ideas
Featuring Guillermo (Gary) J. Tearney, MD, PhD, Susan A. Slaugenhaupt, PhD, and Galit Alter, PhD

Imagine swallowing a small capsule that travels down your gastrointestinal (GI) tract, capturing multiple microscopic images along the way in order to detect Barrett’s esophagus, a precursor to esophageal cancer. While this device may sound like something from the future, it in fact exists today. Thanks to funding from the MGH Research Scholars program, Gary Tearney, MD, PhD, is working to make this technology available to primary care practices around the world.


Could There be a Link Between Herpes Virus and Alzheimer’s Disease?
Featuring Rudolph Tanzi, PhD, and Robert Moir, PhD

New research from Massachusetts General Hospital suggests that herpes virus may accelerate the progression of Alzheimer's disease. These findings also point to a potential new treatment for the devastating neurological condition.


Podcast Showcases Mass General Female Leaders
Featuring Katrina Armstrong, MD, Sarah Wakeman, MD, Denise Gee, MD, Malissa Wood, MD, Marcela del Carmen, MD, MGPO, Misty Hathaway, Pamela Jones, MD, and Aswita Tan-McGrory

Massachusetts General Hospital's new podcast called “Charged” features some of the hospital’s leading female voices. Every episode uncovers stories of their relentless daily pursuit to break boundaries and provide exceptional care. Join the charge by subscribing today!


Increasing Advancement Opportunities for Women in Science and Medicine
Featuring Kimberly Blumenthal, MD, MSc, Laura Dichtel, MD, MHS, Jenna Galloway, PhD, Emily Hyle, MD, MSc, Karen Nanji, MD, MPH, and Kori Zachrison, MD, MSc

Despite progress, gender disparities still exist in science and medicine. To help address this inequality, Mass General's Claflin Distinguished Scholars Awards provide financial support to female faculty to help them maintain research productivity during child-rearing years. Hear from this year’s recipients about what the award means to them and their research.


New Insights Into How Shigella Bacteria Cause Disease
Featuring Cammie Lesser, MD, PhD

In the battle between bacteria and humans, the best defense may be a good offense. Learn how new findings from Massachusetts General Hospital's Cammie Lesser MD, PhD, could lead to new strategies for treating Shigella and other infectious diseases.


Blueprint Grant Will Help Advance Strategies to Limit Stroke Damage
Featuring Klaus van Leyen, PhD

Klaus van Leyen, PhD, an investigator in the Neuroprotection Research Laboratories at Massachusetts General Hospital, recently received a Blueprint Grant from the NIH to help in developing new treatment strategies to limit brain bleeding and cell death in stroke patients.


Snapshot of Science for July 2018
Featuring Patrick Ellinor, MD, PhD, Elsie Taveras, MD, MPH, Edward Ryan, MD, and Alexander Tsai, MD, PhD

What's new in research at Mass General? Here's a snapshot of studies recently published in top-tier scientific journals.


Research Awards and Honors: July 2018
Featuring Sarina Elmariah, MD, PhD, Lilit Garibyan MD, PhD, Scott Plotkin, MD, PhD, Steven Rodriguez, PhD, and Jennifer Temel, MD

Congratulations to the Mass General researchers who recently received awards and honors!