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Repurposed Drugs May Offer Improved Treatments for Fatal Genetic Disorders

Thursday, December 15, 2016

Image of stained myelin

The green stain highlights
myelin, a substance essential
for a healthy nervous system
that's destroyed in children
with Krabbe disease. The study
treatment was able to rescue
myelin in mice.

University of Rochester Medical Center researchers believe they have identified a potential new means of treating some of the most severe genetic diseases of childhood, according to a study in PLOS Biology.

The diseases, called lysosomal storage disorders (LSDs), are caused by disruptions in the functioning of the stomach of the cell, known as the lysosome. LSDs include Krabbe disease, Gaucher disease , metachromatic leukodystrophy and about 40 related conditions. In their most aggressive forms, they cause death of affected children within a few years after birth.

The URMC team, led by Mark Noble, Ph.D., discovered for the first time how specific toxic waste products that accumulate in LSDs cause multiple dysfunctions in affected cells. They also found that several drugs already approved for other uses have the unexpected ability of overcoming the cellular toxic build-up, providing new opportunities for treatment.

Read More: Repurposed Drugs May Offer Improved Treatments for Fatal Genetic Disorders

Researchers Identify Brain Region as Possible Target for Dementia Prevention

Tuesday, December 13, 2016

A University of Rochester study has found that older adults with excellent memories have more efficient connections between specific areas of the brain — findings that could hold promise for the prevention of dementia and cognitive decline.

Although researchers have historically viewed memory deterioration as an inevitable part of the aging process, a small group of older adults — called “supernormals” — are able to maintain their memory capacities much better than their peers. Feng (Vankee) Lin, PhD, an assistant professor in the University of Rochester School of Nursing, is spearheading a new approach to the study of Alzheimer’s disease by exploring what can be learned from these individuals.

In a study on the topic published in Cortex, an international journal devoted to the study of cognition and the relationship between the nervous system and mental processes, Lin and her team explored differences in brain function among three groups of older adults: supernormals, who were defined as having higher than average memory scores for their age, older adults diagnosed with amnestic mild cognitive impairment who are at high risk for developing Alzheimer’s disease, and a healthy control group. The study is the first to compare the brain function of supernormals to those who are at risk for developing Alzheimer’s.

Read More: Researchers Identify Brain Region as Possible Target for Dementia Prevention

Study Challenges Autism Brain Response Theory

Tuesday, December 6, 2016

A new study challenges the hypothesis that nerve cells in the brains of individuals with Autism Spectrum Disorders do not reliably and consistently respond to external stimuli. “Our findings show there is no measurable variation in how individuals with autism respond to repeated visual and tactile stimuli,” says senior author John Foxe, the Kilian J. and Caroline F. Schmitt Professor in Neuroscience.

Read More: Study Challenges Autism Brain Response Theory

Repurposed Drug May Offer Diagnosis, Treatment for Traumatic Nerve Damage

Monday, November 14, 2016

Researchers at the University of Rochester Medical Center believe they have identified a new means of enhancing the body’s ability to repair its own cells, which they hope will lead to better diagnosis and treatment of traumatic nerve injuries, like those sustained in car accidents, sports injuries, or in combat. In a study published today, the team showed that a drug previously approved for other purposes can ‘wake up’ damaged peripheral nerves and speed repair and functional recovery after injury.

The study appearing in EMBO Molecular Medicine, demonstrates for the first time that 4-aminopyridine (4AP), a drug currently used to treat patients with the chronic nerve disease, multiple sclerosis, has the unexpected property of promoting recovery from acute nerve damage. Although this drug has been studied for over 30 years for its ability to treat chronic diseases, this is the first demonstration of 4AP’s benefit in treating acute nerve injury and the first time those benefits were shown to persist after treatment was stopped.

Study authors, John Elfar, M.D., associate professor of Orthopaedics, and Mark Noble, Ph.D., Martha M. Freeman, M.D., Professor in Biomedical Genetics, and their laboratory team, found that daily treatment with 4AP promotes repair of myelin, the insulating material that normally surrounds nerve fibers, in mice. When this insulation is damaged, as occurs in traumatic peripheral nerve injury, nerve cell function is impaired. These researchers found that 4AP treatment accelerates repair of myelin damage and improvement in nerve function.

Read More: Repurposed Drug May Offer Diagnosis, Treatment for Traumatic Nerve Damage

With humor and exercise, Lawler fights Huntington's

Tuesday, October 25, 2016

Bill Lawler is behind the bar at Caverly's Irish Pub.

A retired Rochester police investigator, Lawler pours drinks as some of his former colleagues — and some current cops — wander in.

Lawler is well known here, where he proudly wears the nickname "Three-quarters." There's a reason for the nickname: Stricken with Huntington's disease, Lawler suffers from tremors that are obvious as he pours a draft from a tap or hands a glass to a customer. Often, as his hand quavers, some of the brew sloshes over the edge. Rarely does one get a beer filled to the top; hence, the nickname "Three-quarters."

There is also the nickname "Lefty," a reference to Lawler's off-balance gait. "It's not because of my politics but because I kept walking to the left," Lawler said.

Some may find the nicknames of questionable taste, but not Lawler. This is the kind of humor he was accustomed to on the police force. Sure, Lawler may have a disability, but that does not mean he is disabled by Huntington's. At Caverly's on South Avenue, where a friend has him bartend on Wednesday afternoons, Lawler gives as well as he gets when his cop buddies give him grief.

"I refuse to be pitied," Lawler said in an interview. "If anybody ever pitied me I would bite off their nose."

A former marathoner, Lawler still runs regularly, accompanied by his guide dog, Kermit, and friends or family. Winter weather does not stop him. He keeps in touch with many of his friends, and often joins them for breakfast or lunch. He accepts any new experimental treatment offered for Huntington's, even one that left him with terrible abdominal pains.

He is, for many, a lesson about how to live a life — a life slowed by a disease with no known cure, a disease that may ultimately bring his life to an end.

But that day is, for Lawler, a distant future and not one worth imagining. And his willingness to push ahead with a life of some normalcy, and to exercise almost as vigorously as he once did, seems to have its benefits: The disease is not progressing as quickly as it does with some who settle into a sedentary lifestyle.

"The fact that he continues to get out there and run, kudos to him," said Dr. Kevin Biglan, a neurologist at University of Rochester Medical Center who works closely with Lawler. "But I also think it helps" combat the disease's effects, he said.

"He does not let the disease impact him or get him down," Biglan said. "He's just going to do his thing."

Read More: With humor and exercise, Lawler fights Huntington's

Research Will Explore New Therapies for Huntington’s Disease

Wednesday, October 12, 2016

Image of astocytes

A new award from the CHDI Foundation will advance promising research that aims to slow the progression of Huntington’s disease. The funding, anticipated to total more than $10.5 million over next five years, will help University of Rochester Medical Center (URMC) scientists develop a stem cell-based therapy that swaps sick brain cells for healthy ones.

The new award will go to the lab of Steve Goldman, M.D., Ph.D., the co-director of the URMC Center for Translational Neuromedicine, which has research operations in both Rochester and at the University of Copenhagen.

Huntington’s is a hereditary neurodegenerative disease characterized by the loss of medium spiny neurons, a nerve cell in the brain that plays a critical role in motor control. As the disease progresses over time and more of these cells die, the result is involuntary movements, problems with coordination, and cognitive decline, depression, and often psychosis. There is currently no way to slow or modify this fatal disease.

The new award will support research that builds upon findings published by Goldman earlier this year in the journal Nature Communications showing that researchers were able to slow the progression of the disease in mice by transplanting healthy human support cells, called glial progenitor cells, into the animals’ brains.

Read More: Research Will Explore New Therapies for Huntington’s Disease

New Grants Explore Role of Brain’s “Garbage Truck” in Mini-Stokes and Trauma

Wednesday, October 5, 2016

Photo of Dr. Nedergaard

Maiken Nedergaard, M.D., D.M.Sc.

More than $4.5 million in new grants to the lab of University of Rochester Medical Center scientist Maiken Nedergaard, M.D., D.M.Sc., underscore the important role the brain’s waste disposal system may play in a range of neurological disorders. The new awards will advance understanding of how small vessel disease and traumatic brain injury can give rise to cognitive and behavioral problems.

Nedergaard and her colleagues first unveiled the brain’s unique method of removing waste – dubbed the glymphatic system – in a paper in Science Translational Medicine in 2012. The research revealed that the brain possesses a circulation network that piggybacks on blood vessels and uses cerebral spinal fluid to flush away waste products from brain tissue. Since that time, the team has gone on to show that the glymphatic system works primarily while we sleep, could be a key player in diseases like Alzheimer’s, and is disrupted after traumatic brain injury.

Read More: New Grants Explore Role of Brain’s “Garbage Truck” in Mini-Stokes and Trauma

Nuclear Protein Causes Neuroblastoma to Become More Aggressive

Wednesday, September 28, 2016

Image of Photoblastomas

Aggressive forms of neuroblastoma contain a specific protein in their cells’ nuclei that is not found in the nuclei of more benign forms of the cancer, and the discovery, made through research from the University of Rochester Medical Center (URMC), could lead to new forms of targeted therapy.

EYA1, a protein that contributes to ear development, is present in the cytoplasm of many neuroblastoma tumors, but this protein migrates to the nucleus in the cells of more aggressive forms of the disease. The research, recently published in two medical research journals, allows for the development of targeted drugs that will work to prevent the neuroblastoma from reaching this more aggressive stage; researchers at URMC and elsewhere have already begun testing some of these potential treatments in a laboratory setting.

Photo of Nina Schor

“Neuroblastoma is one of the most common and deadly forms of childhood cancer, and this discovery allows us to identify drugs that prevent the change in EYA1 structure and potentially minimize the danger to a child who has this disease,” said Nina Schor, M.D., Ph.D., professor of Pediatrics and Neuroscience and the William H. Eilinger Chair of Pediatrics at URMC.

Read More: Nuclear Protein Causes Neuroblastoma to Become More Aggressive

Jessica Cantlon Named One of 10 Scientists to Watch by Science News

Friday, September 23, 2016

Photo of Jessica Cantlon

Jessica Cantlon

Jessica Cantlon, associate professor of Brain and Cognitive Sciences, was selected by Science News as one of their 10 early- to mid-career scientists to watch. Cantlon’s work centers on how human and nonhuman primates distinguish between quantities. Understanding how the brain makes sense of concepts such as estimating quantities and counting might lead to better ways of teaching numerical concepts to children.

Read More: Jessica Cantlon Named One of 10 Scientists to Watch by Science News

How the Brain Decodes Sentences

Tuesday, September 20, 2016

"How the human brain represents the meanings of sentences has been an unsolved problem in neuroscience, but my colleagues and I recently published work in the journal Cerebral Cortex that casts some light on the question," writes Rajeev Raizada, assistant professor of brain and cognitive sciences.

Read More: How the Brain Decodes Sentences

Harris Gelbard Receives International Award for Neurovirology Research

Tuesday, September 13, 2016

Harris GelbardHarris “Handy” Gelbard, M.D., Ph.D., director of the Center for Neural Development & Disease, is slated to receive the Hilary Koprowski Prize in Neurovirology at this year’s International Symposium on Molecular Medicine and Infectious Disease at Drexel University. Gelbard will be recognized for developing an unconventional drug that shows promise in treating brain disorders associated with HIV.

Gelbard’s drug, URMC-099, calms the immune system when it goes awry, as happens in HIV Associated Neurocognitive Disorder (HAND). In HAND, immune reactions to HIV particles in the brain damage nerve cells and cause dementia. Because patients affected by HAND also have HIV, it was imperative that URMC-099 not interfere with the antiretroviral drugs that keep HIV-positive patients alive.

2016 Convocation Award Winners from Neuroscience

Thursday, September 8, 2016

Congratulations to the following people for winning teaching and student achievement awards at this year's SMD Opening Convocation.

Faculty Teaching, Mentoring & Diversity Awards

  • Deborah Cory-Slechta, PhD
  • John Olschowka, PhD

Medical & Graduate Student Achievement Awards

  • Alexandra McHale - Irving L. Spar Fellowship Award
  • Gavin Jenkins - Merritt and Marjorie Cleveland Fellowship
  • Neal Shah - J. Newell Stannard Graduate Student Scholarship Award
  • Grayson Sipe - Outstanding Student Mentor Award

Make sure to congratulate each of them when you see them.

DOD Grant Explores New Drugs to Thwart Impact of Trauma, Stroke, and Cardiac Arrest

Thursday, September 8, 2016

Photo of soldier in desert

A $2.3 million Department of Defense grant will help neuroscientists develop new treatments for the emergency room and the battlefield. The research will focus on the development of new therapies that could help protect brain and other at risk organs following a trauma, heart attack, or stroke.

“While we have made significant progress in our ability to restore blood flow after stroke or cardiac arrest, the medical community does not have drugs at its disposal to prevent the secondary damage that occurs after these events,” said University of Rochester Medical Center neurologist Marc Halterman, M.D., Ph.D., the principal investigator of the study. “This grant will further our research on a promising class of drugs that possess both anti-inflammatory and cytoprotective properties that we believe will be suitable for use in both military and emergency conditions.”

Read More: DOD Grant Explores New Drugs to Thwart Impact of Trauma, Stroke, and Cardiac Arrest

How Does Noise Damage Hearing?

Tuesday, September 6, 2016

Join Pat White on Saturday, September 10 from 2-4pm at the Pittsford Barnes and Noble as she is featured at the UR Science Cafe discussion

Compositional reasoning in early childhood - New paper from BCS profs Steve Piantadosi & Dick Aslin in @PLOSONE

Friday, September 2, 2016

Compositional “language of thought” models have recently been proposed to account for a wide range of children’s conceptual and linguistic learning. The present work aims to evaluate one of the most basic assumptions of these models: children should have an ability to represent and compose functions. We show that 3.5–4.5 year olds are able to predictively compose two novel functions at significantly above chance levels, even without any explicit training or feedback on the composition itself. We take this as evidence that children at this age possess some capacity for compositionality, consistent with models that make this ability explicit, and providing an empirical challenge to those that do not.

Read More: Compositional reasoning in early childhood - New paper from BCS profs Steve Piantadosi & Dick Aslin in @PLOSONE

Automatic cortical representation of auditory pitch changes in Rett syndrome - John Foxe et al.

Thursday, September 1, 2016

Over the typical course of Rett syndrome, initial language and communication abilities deteriorate dramatically between the ages of 1 and 4 years, and a majority of these children go on to lose all oral communication abilities. It becomes extremely difficult for clinicians and caretakers to accurately assess the level of preserved auditory functioning in these children, an issue of obvious clinical import. Non-invasive electrophysiological techniques allow for the interrogation of auditory cortical processing without the need for overt behavioral responses. In particular, the mismatch negativity (MMN) component of the auditory evoked potential (AEP) provides an excellent and robust dependent measure of change detection and auditory sensory memory. Here, we asked whether females with Rett syndrome would produce the MMN to occasional changes in pitch in a regularly occurring stream of auditory tones.

Read More: Automatic cortical representation of auditory pitch changes in Rett syndrome - John Foxe et al.

Jonathan W. Mink Elected President of Child Neurology Society

Tuesday, August 30, 2016

Jonathan W. Mink, M.D., Ph.D., chief of Child Neurology at Golisano Children's Hospital, will lead the nation's largest organization of child neurologists.

Mink, who is also Frederick A. Horner, MD Endowed Professor in Pediatric Neurology, was voted president of the organization by fellow pediatric neurologists from around the U.S. He will assume the position of president-elect following the annual meeting of the Child Neurology Society in November.

Mink will succeed Golisano Children’s Hospital’s pediatrician-in-chief, Nina F. Schor, Ph.D., William H. Eilinger Chair of Pediatrics.

The Child Neurology Society is a non-profit professional association of 1,300 pediatric neurologists in the United States, Canada, and worldwide who are devoted to fostering the discipline of child neurology and promoting the optimal care and welfare of children with neurological and neurodevelopmental disorders.

“It’s a tremendous honor to be elected,” Mink said. “Child neurology is a changing field. There is a real opportunity to leverage our increasing diversity to reach out to students, trainees and patients in a way that we couldn’t before.”

In addition to Mink’s clinical practice and research, he directs the Division of Child Neurology in the Department of Neurology and is associate director of the Child Neurology Residency Program. He also serves on the executive board of the International Child Neurology Association, on the board of directors of the American Neurological Association, and the executive committee of the American Academy of Pediatrics Section on Neurology. He is a member of the National Advisory Neurological Disorders and Stroke Council of the NIH, a medical advisory to the Batten Disease Support and Research Association, and is also an associate editor of Neurology. He served as chair of the Child Neurology Society’s Scientific Program Committee from 2013 to 2015, where he and Schor collaborated to plan the 2014 and 2015 Annual Meetings.

“Nina was a terrific president of the Child Neurology Society. She’s a born leader, and I have learned some lessons on how she fulfilled her duties,” Mink said. “I think it’s tremendous for the University of Rochester. When I started here, there were four child neurologists. Now there are 15, and our residency program is one of the top-rated programs nationally.”

Mink trained in Pediatrics Neurology at St. Louis Children’s Hospital. He received his M.D. and Ph.D. from Washington University.

Mink is nationally recognized as a movement disorders specialist. He’s known for his research on Tourette syndrome and understanding brain mechanisms involved in the control of movement, along with disorders that cause involuntary movement. His research also includes clinical trials that impact the function of children with movement disorders.

Mink will serve one year as president-elect, two as president, and one as past president.

Neurosurgeon Bhalla Joins Stroke Team

Tuesday, August 30, 2016

photo of Bhalla Tarun

Tarun Bhalla, M.D., Ph.D., has been named director of Stroke and Cerebrovascular Services in the Department of Neurosurgery and director of Inpatient Stroke and Cerebrovascular Services at UR Medicine. Bhalla, who was also appointed assistant professor in the Departments of Neurosurgery, Neurology, and Imaging Sciences, began his position on August 1, 2016.

“Dr. Bhalla is a tremendously skilled endovascular neurosurgeon who will build upon an already strong foundation of stroke and cerebrovascular services and help guide efforts to expand and improve care across the region,” said Web Pilcher, M.D., Ph.D., chair of the Department of Neurosurgery. “We are delighted that he has agreed to join the Medical Center and our team.”

“I am honored to join UR Medicine and look forward to contributing to a team of providers that is already providing the highest level of care for victims of stroke and cerebrovascular diseases,” said Bhalla. “In stroke, time is brain, so we need to continue to focus on new ways to accelerate the process of getting patients to where they need to be and receiving the level of care necessary to achieve good outcomes.”

Bhalla joins URMC from Geisinger Medical Center in Danville, PA where he served for three years as the director of Cerebrovascular and Endovascular Neurosurgery. He received his M.D. and Ph.D. from the University of Connecticut and did his residency training, as well as a fellowship in surgical endovascular neuroradiology, at the Cleveland Clinic. His specialties include cerebrovascular and endovascular treatment for stroke, aneurysms, arteriovenous malformations (AVM), carotid/vertebral artery disease, and a chronic facial pain called trigeminal neuralgia.

Bhalla will join the UR Medicine’s Comprehensive Stroke Center. Strong Memorial Hospital is the only institution in the region designated by the Joint Commission and the American Heart Association/American Stroke Association as a Comprehensive Stroke Center. His appointment will expand the Center’s team of endovascular surgeons. In recent years, stroke care undergone a shift in care with studies showing that endovascular procedures – during which surgeons remove clots in the brain via a catheter fed through blood vessels – may result in better outcomes for some patients compared to care involving only clot busting drugs.

His appointment comes on the heels of several new investments in stroke and cerebrovascular care at Strong Memorial Hospital, including a new Hybrid Operating Room and Angio Suite designed to offer minimally invasive neurosurgical procedures, a new surgical technology to treat hemorrhages deep inside the brain, and a dedicated Neuromedicine Intensive Care Unit.

Bhalla will help lead efforts to expand stroke care, including working with community providers and emergency medical technicians to diagnose and potentially begin treatment for stroke patients before they reach the hospital.

Read More: Neurosurgeon Bhalla Joins Stroke Team

Paciorkowski Recognized for Research in Pediatric Neurologic Disorders

Monday, August 29, 2016

alexNeurologist Alexander R. Paciorkowski, M.D.  is being honored by the American Neurological Association (ANA) for his research in developmental disorders.  The award will be presented at the ANA’s annual meeting in October 2016.

Paciorkowski ‘s research focuses on early life epilepsies and his research has shed new light on mechanisms of a severe form of seizure disorders – early myoclonic encephalopathy, Ohtahara syndrome, and infantile spasms – collectively referred to as developmental epilepsies.  Specifically, Paciorkowski has identified a mutation in a gene called salt-inducible kinase 1 (SIK1), a gene previously unidentified with the disease and one which researchers believe plays a role in a chain reaction of gene and protein interactions in neurons that contribute to seizures. 

 “Alex is a rising star in neurogenetics and child neurology who, just four years out of fellowship, has already made major contributions to our knowledge about human neurodevelopment genetics and disorders,” said Jonathon Mink, M.D., Ph.D., chief of the Division of Child Neurology and vice chair of the Department of Neurology at University of Rochester Medical Center (URMC). 

Read More: Paciorkowski Recognized for Research in Pediatric Neurologic Disorders

This is your brain on sentences

Friday, August 12, 2016

This is your brain on sentences

Researchers at the University of Rochester have, for the first time, decoded and predicted the brain activity patterns of word meanings within sentences, and successfully predicted what the brain patterns would be for new sentences.

The study used functional magnetic resonance imaging (fMRI) to measure human brain activation. “Using fMRI data, we wanted to know if given a whole sentence, can we filter out what the brain’s representation of a word is—that is to say, can we break the sentence apart into its word components, then take the components and predict what they would look like in a new sentence,” said Andrew Anderson, a research fellow who led the study as a member of the lab of Rajeev Raizada, assistant professor of brain and cognitive sciences at Rochester.

“We found that we can predict brain activity patterns—not perfectly [on average 70% correct], but significantly better than chance,” said Anderson, The study is published in the journal Cerebral Cortex.

Anderson and his colleagues say the study makes key advances toward understanding how information is represented throughout the brain. “First, we introduced a method for predicting the neural patterns of words within sentences—which is a more complex problem than has been addressed by previous studies, which have almost all focused on single words,” Anderson said. “And second, we devised a novel approach to map semantic characteristics of words that we then correlated to neural activity patterns.”

Read More: This is your brain on sentences

Study Reveals Brain’s Finely Tuned System of Energy Supply

Monday, August 8, 2016

Image of blood cells

New research in the journal Neuron reveals how the brain is able to meet its massive energy demands with a “just in time” system that delivers oxygen that fuels nerve cells. The findings could shed light on diseases like Alzheimer’s and help explain the cognitive decline that accompanies the disease.


“Our brains require a tremendous amount of energy and in order to meet this demand the flow of blood must be precisely choreographed to ensure that oxygen is being delivered where it is needed and when it is needed,” said Maiken Nedergaard, M.D., D.M.Sc., co-director of the University of Rochester Center for Translational Neuromedicine and lead author of the study. “This study demonstrates that microvessels in the brain play a key role in reacting to spikes in demand and accelerating the flow of blood to respond to neuronal activity.”


Read More: Study Reveals Brain’s Finely Tuned System of Energy Supply

Luebke and Bennetto Explore Hearing Test That May Identify Autism Risk

Monday, July 25, 2016

Diagram of hearing test to identify autism risk

Researchers have identified an inner ear deficiency in children with Autism that may impact their ability to recognize speech. The findings, which were published in the journal Autism Research, could ultimately be used as a way to identify children at risk for the disorder at an early age.

“This study identifies a simple, safe, and non-invasive method to screen young children for hearing deficits that are associated with Autism,” said Anne Luebke, Ph.D., an associate professor in the University of Rochester Medical Center Departments of Biomedical Engineering and Neuroscience and a co-author of the study. “This technique may provide clinicians a new window into the disorder and enable us to intervene earlier and help achieve optimal outcomes.”

“Auditory impairment has long been associated with developmental delay and other problems, such as language deficits,” said Loisa Bennetto, Ph.D., an associate professor in the University of Rochester Department of Clinical and Social Sciences in Psychology and a co-author of the study. “While there is no association between hearing problems and autism, difficulty in processing speech may contribute to some of the core symptoms of the disease. Early detection could help identify risk for ASD and enable clinicians to intervene earlier. Additionally, these findings can inform the development of approaches to correct auditory impairment with hearing aids or other devices that can improve the range of sounds the ear can process.”

Read More: Luebke and Bennetto Explore Hearing Test That May Identify Autism Risk

The Sleep Hack Neuroscience Says Gives Your Brain Optimal Rest

Thursday, June 30, 2016

Sleep is critical for rest and rejuvenation. A human being will actually die of sleep deprivation before starvation--it takes about two weeks to starve, but only 10 days to die if you go without sleep.

The CDC has also classified insufficient sleep as a public health concern. Those who don't get enough sleep are more likely to suffer from chronic diseases that include hypertension, diabetes, depression, obesity, and cancer.

It's thus vital to get enough shuteye, but it turns out your sleep position also has a significant impact on the quality of rest you get.

Now, a neuroscience study suggests that of all sleep positions, one is most helpful when it comes to efficiently cleaning out waste from the brain: sleeping on your side.

The study, published in the Journal of Neuroscience, used dynamic contrast-enhanced MRI to image the brain's "glymphatic pathway." This is the system by which cerebrospinal fluid filters through the brain and swaps with interstitial fluid (the fluid around all other cells in the body).

"It is interesting that the lateral [side] sleep position is already the most popular in humans and most animals--even in the wild," said University of Rochester's Maiken Nedergaard. "It appears that we have adapted the lateral sleep position to most efficiently clear our brain of the metabolic waste products that build up while we are awake."

Read More: The Sleep Hack Neuroscience Says Gives Your Brain Optimal Rest

Swapping Sick for Healthy Brain Cells Slows Huntington’s Disease

Tuesday, June 7, 2016

Photo of Steven Goldman

Researchers have successfully reduced the symptoms and slowed the progression of Huntington’s disease in mice using healthy human brain cells. The findings, which were published today in the journal Nature Communications, could ultimately point to a new method to treat the disease.

The research entailed implanting the animals with human glia cells derived from stem cells. One of the roles of glia, an important support cell found in the brain, is to tend to the health of neurons and the study’s findings show that replacing sick mouse glia with healthy human cells blunted the progress of the disease and rescued nerve cells at risk of death.

“The role that glia cells play in the progression of Huntington’s disease has never really been explored,” said Steve Goldman, M.D., Ph.D., co-director of the University of Rochester Center for Translational Neuromedicine. “This study shows that these cells are not only important actors in the disease, but may also hold the key to new treatment strategies.”

Read More: Swapping Sick for Healthy Brain Cells Slows Huntington’s Disease

Neurologist confronts seizure disorders in sub-Saharan Africa

Tuesday, May 31, 2016

photo of Dr. Birbeck

Birbeck has provided care for more than 3,000 patients with seizure disorders in Africa during two decades of work there. (photo courtesy of Gretchen Birkeck)

Gretchen Birbeck’s first trip to Zambia came in 1994, when she was a University of Chicago medical student completing an elective at the remote Chikankata Mission Hospital, about 75 miles south of the capital city, Lusaka.

More than two decades later, she spends half her year in sub-Saharan Africa, working to improve care for people with seizure disorders.

The Edward A. and Alma Vollertsen Rykenboer Professor in Neurology at Rochester, Birbeck is the director for Chikankata’s Epilepsy Care Team. She’s also an adjunct faculty member at the University of Zambia.

Seizure disorders can be caused by many medical conditions, and they’re more common in the developing world. Neurological and psychological disorders account “for about a quarter of the global burden of disease, and much of that is in developing countries,” says Birbeck.

“There’s a disconnect between where disease is and where experts are,” she says.

She works to redress that disconnection, providing clinical care and conducting research. As a result, more than 3,000 patients have received treatment they otherwise wouldn’t have. And she has helped make changes to Zambia’s national policy that could help many more.

She’s also working to build up the resources and networks necessary to conduct clinical trials in Africa, and to create education and training programs for health care providers and researchers. She’s involved in cerebral malaria research in Malawi and Uganda, and mentors postgraduates and junior faculty carrying out research in Zambia, Malawi, Kenya, and South Africa.

Read More: Neurologist confronts seizure disorders in sub-Saharan Africa

Living in the shadow of Huntington's disease

Thursday, May 26, 2016

On May 15, 2012, Manzone called his mother, Debbie Franczek, with exciting news. His wife, Danielle, was pregnant again. The joy was short-lived. Later that day, Franczek was diagnosed with Huntington's disease. It is slowly killing her.

A year before, the family started noticing changes in Franczek's mood, behaviors, speech and gait. She'd slur words as she was speaking and jerk uncontrollably. Her moods were unpredictable at best.

"We knew exactly what it was," says Manzone, who lives in upstate New York. The symptoms of Huntington's disease can be similar to those of amyotrophic lateral sclerosis, Alzheimer's and Parkinson's simultaneously. The Huntington's Disease Society of America reports that there are about 30,000 symptomatic Americans and more than 200,000 at risk of inheriting the disease today.

Kevin Biglan, professor of neurology at the University of Rochester and director of the Huntington's society's Center of Excellence, has treated patients with Huntington's disease for much of his career.

"It varies dramatically across individuals," Biglan says of the neurodegenerative disease. "Brain cells dysfunction and progressively die over a period of decades."

According to Biglan, patients with the fatal disease experience a slow progression of symptoms over a 10- to 25-year period. "You can imagine if you are 25 years old, you may not have symptoms for 25 to 30 years," Biglan says. "It can create quite a bit of anxiety among individuals. It doesn't give you much predicted value."

Read More: Living in the shadow of Huntington's disease

Conventional Radiation Therapy May Not Protect Healthy Brain Cells

Wednesday, May 18, 2016

Photo demo of conventional radiation therapy

A new study shows that repeated radiation therapy used to target tumors in the brain may not be as safe to healthy brain cells as previously assumed. The findings, which appear in the International Journal of Radiation Oncology, Biology, Physics, show that the treatment also kills important support cells in the brain and may cause as much, if not more damage, than single dose radiation therapy.

“This study suggests that conventional repeated radiation treatments offer no significant benefit to brain tumor patients,” said Kerry O’Banion, M.D., Ph.D., a professor in the University of Rochester Medical Center (URMC) Department of Neuroscience and lead author of the study. “It also shows that certain cell populations in the brain are vulnerable to radiation and this may help explain why so many brain cancer patients experience cognitive problems after treatment.”

Read More: Conventional Radiation Therapy May Not Protect Healthy Brain Cells

When the Physical World is Unreliable: Study Finds Visual and Tactile Processing Deficits in Schizophrenia

Tuesday, May 10, 2016


A new study out today in the journal Translational Psychiatry sheds further light on the idea that schizophrenia is a sensory disorder and that individuals with the condition are impaired in their ability to process stimuli from the outside world. The findings may also point to a new way to identify the disease at an early stage and before symptoms become acute.

Because one of the hallmarks of the disease is auditory hallucinations, such as hearing voices, researchers have long suspected a link between auditory processing and schizophrenia. The new study provides evidence that the filtering of incoming visual information, and also of simple touch inputs, is also severely compromised in individuals with the condition.

“When we think about schizophrenia, the first things that come to mind are the paranoia, the delusions, the disorganized thinking,” said John Foxe, Ph.D., the chair of the University of Rochester Medical Center Department of Neuroscience and senior author of the study. “But there is increasing evidence that there is something fundamentally wrong with the way these patients hear, the way they feel things through their sense of touch, and in the way in which they see the environment.”

Read More: When the Physical World is Unreliable: Study Finds Visual and Tactile Processing Deficits in Schizophrenia

Subtle Chemical Changes in Brain Can Alter Sleep-Wake Cycle

Friday, April 29, 2016

Sleepy Brain

A study out today in the journal Science sheds new light on the biological mechanisms that control the sleep-wake cycle. Specifically, it shows that a simple shift in the balance of chemicals found in the fluid that bathes and surrounds brain cells can alter the state of consciousness of animals.

The study, which focuses on a collection of ions that reside in the cerebral spinal fluid (CSF), found that not only do these changes play a key role in stimulating or dampening the activity of nerve cells, but they also appear to alter cell volume causing brain cells to shrink while we sleep, a process that facilitates the removal of waste.

“Understanding what drives arousal is essential to deciphering consciousness and the lack thereof during sleep,” said Maiken Nedergaard, M.D., D.M.Sc., co-director of the University of Rochester Center for Translational Neuromedicine and lead author of the study. “We found that the transition from wakefulness to sleep is accompanied by a marked and sustained change in the concentration of key extracellular ions and the volume of the extracellular space.”

The current scientific consensus is that the brain is “woken up” by a set of neurotransmitters – which include compounds such as acetylcholine, hypocretin, histamine, serotonin, noradrenaline, and dopamine – that originate from structures deep within the brain and the brain stem. This cocktail of chemical messengers serve to activate – or arouse – a set of neurons in the cerebral cortex and other parts of the brain responsible for memory, thinking, and learning, placing the brain in a state of wakefulness.

Read More: Subtle Chemical Changes in Brain Can Alter Sleep-Wake Cycle

“Honeycomb” of Nanotubes Could Boost Genetic Engineering

Wednesday, April 6, 2016

Electron microscopic image of animal cells on array of nanotubes

Electron microscope image of animal cells (colored blue) cultured on an array of carbon nanotubes

Researchers have developed a new and highly efficient method for gene transfer. The technique, which involves culturing and transfecting cells with genetic material on an array of carbon nanotubes, appears to overcome the limitations of other gene editing technologies.

The device, which is described in a study published today in the journal Small, is the product of a collaboration between researchers at the University of Rochester Medical Center (URMC) and the Rochester Institute of Technology (RIT).

“This platform holds the potential to make the gene transfer process more robust and decrease toxic effects, while increasing amount and diversity of genetic cargo we can deliver into cells,” said Ian Dickerson, Ph.D., an associate professor in the Department of Neuroscience at the URMC and co-author of the paper.

Read More: “Honeycomb” of Nanotubes Could Boost Genetic Engineering

Early Wiring of Brain's “Fear” Centers Could Produce Long-term Consequences

Monday, March 21, 2016

Fear from Early Brain Wiring

New research shows that our brains may be hardwired to become sensitive to stressful environments at an early age and, if overstimulated, this may contribute to anxiety disorders and even psychotic syndromes later in life.

The study, which appears in the journal Brain Structure and Function, focuses on two structures deep in the brain. The central nucleus of the amygdala (Ce) is thought to be involved in responses to immediate threats and stimulus, such as becoming startled or freezing in reaction to a loud noise. The bed nucleus of the stria terminalis (BST) is thought to be involved in regulating a person’s state of vigilance, such as determining whether or not an environment or a situation poses a potential threat. Animal and human studies show that when the BST is activated by a threatening situation, we tend to slow down, become quieter, and stress hormones spike.

While Ce and BST reside in different parts of the brain, the two areas are hardwired to each other by axonal tracts – basically, bundles of long distance axon fibers that enable the separate regions to communicate with each other. However, until now it has not been clear when these connections form or the way in which they interact with each other.

In the study published today, a team of researchers led by Julie Fudge, M.D., with the Department of Neuroscience observed that these connections are made at a very early stage of development in non-human primates. They also found that the direction of the connection is essentially a one way street. The Ce – or immediate fear signaling center – conveys information to the BST, the structure that mediates general threat sensing or anxiety states. This arrangement suggests that repeated activation of the Ce by immediately fearful or traumatic events may shape long-term anxiety states in the BST.

Read More: Early Wiring of Brain's “Fear” Centers Could Produce Long-term Consequences

Parkinson’s App Celebrates Milestone, Featured by Apple

Monday, March 21, 2016

A Parkinson’s iPhone app developed by Sage Bionetworks and University of Rochester Medical Center (URMC) neurologists marks the first anniversary of its release. The app was also highlighted by Apple today during its semi-annual product launch event.

Sage Bionetworks, a Seattle-based nonprofit biomedical research organization, today released an updated version of its mPower (Mobile Parkinson’s Observatory for Worldwide, Evidence-based Research) app that includes an improved user interface and functionality developed in response to feedback by users. Sage also announced that mPower would be the first app incorporated into a new Apple platform called CareKit, which will turn the app into a valuable tool to help better inform patients about their symptoms and care.

The mPower app – which was created by Sage in collaboration with URMC neurologists Ray Dorsey, M.D., M.B.A., and Karl Kieburtz, M.D., M.P.H., and with the support of the Robert Wood Johnson Foundation – was first unveiled in March 2015 during Apple’s “Spring Forward” product launch event.

Read More: Parkinson’s App Celebrates Milestone, Featured by Apple

The Brain’s Gardeners: Immune Cells ‘Prune’ Connections Between Neurons

Monday, March 7, 2016

MicrogliaMicroglia (green) with purple representing the P2Y12 receptor which the study shows is a critical regulator in the process of pruning connections between nerve cells.

A new study out today in the journal Nature Communications shows that cells normally associated with protecting the brain from infection and injury also play an important role in rewiring the connections between nerve cells. While this discovery sheds new light on the mechanics of neuroplasticity, it could also help explain diseases like autism spectrum disorders, schizophrenia, and dementia, which may arise when this process breaks down and connections between brain cells are not formed or removed correctly.

“We have long considered the reorganization of the brain’s network of connections as solely the domain of neurons,” said Ania Majewska, Ph.D., an associate professor in the Department of Neuroscience at the University of Rochester Medical Center (URMC) and senior author of the study. “These findings show that a precisely choreographed interaction between multiple cells types is necessary to carry out the formation and destruction of connections that allow proper signaling in the brain.”

The study is another example of a dramatic shift in scientists’ understanding of the role that the immune system, specifically cells called microglia, plays in maintaining brain function. Microglia have been long understood to be the sentinels of the central nervous system, patrolling the brain and spinal cord and springing into action to stamp out infections or gobble up dead cell tissue. However, scientists are now beginning to appreciate that, in addition to serving as the brain’s first line of defense, these cells also have a nurturing side, particularly as it relates to the connections between neurons.

Read More: The Brain’s Gardeners: Immune Cells ‘Prune’ Connections Between Neurons

Hope, Hype, and Wishful Thinking

Monday, February 22, 2016

Dr. Goldman

In a perspective piece appearing in the journal Cell Stem Cell, URMC neurologist Steve Goldman, M.D., Ph.D., lays out the current state of affairs with respect to stem cell medicine and how close we are to new therapies for neurological disorders.

The dawn of stem cell medicine some 25 years ago was greeted with great enthusiasm, particularly by scientists who study diseases in the central nervous system (CNS).  Many of the diseases found in the brain and spinal cord are degenerative in nature; meaning that over time populations of cells are lost due to genetic factors, infection, or injury.  Because stem cell medicine holds the potential to repair or replace damaged or destroyed cells, scientists have considered these diseases as promising candidates for new therapies.

However, as with other emerging fields of medicine, the race to cures has turned out to be more of marathon than a sprint.  While scientists have become very adept at manipulating stem and progenitor cells and understanding the complex choreography of genetic and chemical signals that instruct these cells to divide, differentiate, and proliferate, researchers are still grappling with the challenges of how to integrate new cells into the complex network of connections that comprise the human brain.

Goldman, co-director of the URMC Center for Translational Neuromedicine, takes a sweeping view of where we stand and which CNS diseases may or may not ultimately benefit from future stem cell-based therapies.

Read More: Hope, Hype, and Wishful Thinking

Richard Aslin's Rochester Baby Lab Shows

Wednesday, February 17, 2016

Amelia Smith sits on the floor of a newly remodeled wing of the University of Rochester's department of Brain and Cognitive Sciences. The 8-month old wears a headband of cottony roses, and tiny bubbles form in the corner of her mouth. She's completely entranced by the commotion around her.

Though few adults in the room can resist oohing and aww-ing, little Amelia is not there to be fawned over. She's there to work. Researchers at the UR's Baby Lab want to know what she's thinking, what she's learned so far in her young life, and how she learned it.

But there's a problem: Amelia can't talk yet.

The work being investigated in Richard Aslin's Baby Lab was written up in the City Newspaper article "Signs of Intelligent Life".

Read More: Richard Aslin's Rochester Baby Lab Shows

Doing something larger than you could ever do on your own

Friday, February 12, 2016

"There is a tendency for many investigators, especially early in their careers, to hold onto their work and not share it," says David Williams, the William G. Allyn Professor of Medical Optics; Dean for Research in Arts, Sciences and Engineering; Director of the Center for Visual Science - and a leading eye expert who pioneered the use of adaptive optics for vision correction.

"They don't realize - and it's one of the things that took me longer to learn than I wish it had - that one of the best ways to build your reputation is to share your ideas or your technology with the hope that they will be adopted.

"I was lucky enough to realize that if I let my students take my adaptive optics technology and use it to build their own labs, for example, it not only helped them get their independent research programs off the mark but also enhanced my reputation because so many more people were able to access and deploy the technology."

Is it any wonder then, that of the five NEI Audacious Goals grants recently awarded to Williams and four other investigators:

  • four of the projects use adaptive optics as their core technology?
  • three of the other PI's are either current collaborators with Williams or former postdocs in his lab?
  • which means that four of the PI's will be cooperating with each other, even as they individually collaborate with other experts in the field on their individual projects - in effect widening the opportunities for synergy?

    "That's the excitement of this," Williams says. "Why should we compete when one group can do one piece of it, and a second group can do another, and as along as you can manage authorships and credit appropriately and fairly, we can be much more efficient and effective in getting things done?"

    "One of the things I'm proudest about in this community of people around the world doing adaptive optics and retinal imaging is that almost all of us get along really well, and we're moving science forward as rapidly as we can by helping each other. That doesn't always happen in science."

    As Dean of Research for Arts, Science and Engineering, Williams is always looking for young faculty throughout AS&E who have the right personality and vision to take on larger, multi-investigator, multi-institutional projects.

    "You have to be gregarious and interested in working with other people and tolerating the quirks that they have, just as they have to tolerate the quirks you have," Williams said.

    "The largest source of optimism for me about the AS&E research portfolio is the quality of our junior faculty members - their enthusiasm and energy. Many of them have cut their teeth on individual investigator awards and will reach a certain point in mid career when they realize they need to reach out for complementary expertise in order to do more."

    Williams' advice: The best collaborator may not be the first one that comes to mind.

    "One of the biggest mistakes faculty members make is to choose a collaborator who is just like them, who has the same interests in a problem and the same background and who they can easily begin a conversation with because they are so closely aligned. But that doesn't really help your research. You want to have somebody who . . . has a completely different skills set. As obvious as that is, it doesn't always get factored into planning how to accumulate the necessary wisdom to do something larger than you could ever do on your own."

Study Sheds Light on Source of Drug Addicts' Risk-Taking Behavior

Wednesday, February 10, 2016

Representation of Drug Addiction

A study out today provides new insight into how the brains of drug addicts may be wired differently. The findings, which appear in the journal Psychopharmacology, show that while drug users have very strong motivation to seek out "rewards," they exhibit an impaired ability to adjust their behavior and are less fulfilled once they have achieved what they desire. Addressing this disconnect between the craving for a drug and the ability to regulate behavior may be one of the keys to breaking the cycle of addiction.

"The vast majority of people, when faced with something they want, will assess how achievable the goal is and adjust their actions and expectations in order to maximize their potential to achieve it," said John Foxe, PhD, the chair of the Department of Neuroscience at the University of Rochester Medical Center and senior author of the study. "However, it appears that the integrity of this system of assessment and self-regulation is impaired in substance abusers and this may contribute to the risk-taking behaviors and poor decision-making commonly associated with this population."

Read More: Study Sheds Light on Source of Drug Addicts' Risk-Taking Behavior

Study Details Source of Mental Problems Associated with MS

Tuesday, January 26, 2016

A study out today sheds new light on multiple sclerosis (MS), specifically damage in the brain caused by the disease that may explain the slow and continuous cognitive decline that many patients experience.  The findings, which appear in the Journal of Neuroscience, show that the brain’s immune system is responsible for disrupting communication between nerve cells, even in parts of the brain that are not normally considered to be primary targets of the disease.

“This study identifies for the first time a new disease mechanism in MS which causes damage to neurons independent of the loss of white matter and demyelination that is the hallmark of the disease,” said the lead author, neurologist Matthew Bellizzi, M.D., Ph.D., with the Center for Neural Development and Disease at the University of Rochester Medical Center (URMC). “This damage represents another component of the disease and one that is not prevented by the current immunosuppressive drugs employed to treat MS.”

Read More: Study Details Source of Mental Problems Associated with MS

Dirk Bohmann to Lead Basic Science Research at URMC

Tuesday, January 12, 2016

Dirk Bohmann, Ph.D., an accomplished molecular biologist and scientific leader at the University of Rochester School of Medicine and Dentistry, has been appointed Senior Associate Dean for Basic Research pending approval of the University’s Board of Trustees.

Bohmann’s term is effective Jan. 1, 2016, and he’s begun making plans to improve the links between the Medical Center’s vast research community and its leadership, and to strategically integrate the science and education missions.

“I really consider this to be a service function for the scientific community,” said Bohmann, who holds the Donald M. Foster MD Professorship in Biomedical Genetics. “I hope to receive input from my colleagues and I look forward to interacting with them to come up with ways to improve our existing strengths and foster new ideas.”

Read More: Dirk Bohmann to Lead Basic Science Research at URMC

Immune System Cells Key to Maintaining Blood-Brain Barrier

Monday, January 11, 2016

New research shows that the cells responsible for protecting the brain from infection and inflammation are also responsible for repairing the system of defenses that separates the brain from the rest of the body. These findings have significant clinical implications because certain cardiovascular drugs could possibly impede the brain’s ability to repair itself after a stroke or other injury.

“This study shows that the resident immune cells of the central nervous system play a critical and previously unappreciated role in maintaining the integrity of the blood-brain barrier,” said Maiken Nedergaard, M.D., D.M.Sc., co-director of the Center for Translational Neuromedicine at the University of Rochester Medical Center (URMC) and lead author of the study. “When this barrier is breached it must be rapidly repaired in order to maintain the health of the brain and aid in recovery after an injury – a process that could be impaired by drugs that are intended to prevent this damage in the first place.”

Read More: Immune System Cells Key to Maintaining Blood-Brain Barrier