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Dr. Jonathan Mink receives Child Neurology Society’s highest honor

Monday, November 22, 2021

Jonathan W. Mink, M.D., Ph.D., the Frederick A. Horner M.D. Distinguished Professor in Pediatric Neurology and Chief of Child Neurology at University of Rochester Medical Center, has been awarded the Child Neurology Society’s (CNS) 2021 Hower Award.

The award is the organization’s highest honor and is given annually to a child neurologist recognized as an outstanding teacher, scholar, and for making high levels of contributions to the field and the CNS, Mink served as president of the CNS from 2017-2019.

Jonathan Mink, M.D. Ph.D.
Jonathan Mink, M.D. Ph.D.

In his early career, Mink studied the neurobiological basis of Movement Disorders and developed the prevailing model of how the basal ganglia of the brain contribute to motor control. Since moving to the University of Rochester in 2001, he has focused on clinical research in Movement Disorders, including Tourette syndrome, and Batten disease. Mink is a dedicated teacher and mentor and many of his students have gone on to become child neurologists and physician-scientists. He is currently the Director of the University of Rochester Batten Center, co-director of the University of Rochester Tourette Center of Excellence, and co-director of the University of Rochester Intellectual and Developmental Diseases Research Center.

He was recognized at the society’s annual meeting, where he delivered the Hower Award lecture entitled “On Mentors and Protégés: Standing on the Shoulders of Giants and Following Footsteps into the Future.”

“Receiving the Hower Award is a tremendous honor,” Mink said. “I have had the privilege to learn from so many giants and to learn even more from the students, residents, and fellows I have mentored. Each protégé has led me to explore new questions and new directions. The contributions recognized by this award would have not been possible without their inspiration and partnerships.”

The Child Neurology Society is the preeminent non-profit professional association of pediatric neurologists in the United States, Canada, and worldwide.

Read More: Dr. Jonathan Mink receives Child Neurology Society’s highest honor

Radiologic Society of North America Recognizes Thomas Johnson, MD, PhD, Department of Neurology

Monday, November 8, 2021

 Adolescents and young adults with post- concussive symptoms who suffered three to five concussions showed disruption in the default mode network, an interconnected network of brain regions involved in wakeful rest and internal thoughts. Results of study using a special MRI technique called resting-state functional MRI (fMRI) are being presented at the annual meeting of the Radiological Society of North America (RSNA).

 “In the last 20 years, the public awareness of concussion and its long-term effects on the brain has increased and so has research into the topic,” said Thomas Johnson, M.D., Ph.D., a resident physician in neurology at the University of Rochester Medical Center in Rochester, New York. “But there has been scant research using resting state fMRI at the intersection of the adolescent/young adult population and athletes with multiple concussions.”

Dr. Johnson said the study results give clues as to the threshold at which concussions cause effects, which in turn may help inform protocols for playing contact sports following a concussion.
“Suffering three to five concussions has the potential for long-term disruption of cognitive processes,” he said. “We need to determine our tolerance for concussions. When do we say no more contact sports? We need more evidence to set some limits for people.”

In the future, Dr. Johnson said he would like to conduct follow-up research on his study group by scanning the patients with resting-state fMRI in five years to determine whether disruptions in the default mode network remain.

AHA Recognizes UR Medicine for Excellence in Stroke Care

Wednesday, November 3, 2021

The American Heart Association/American Stroke Association has recognized UR Medicine’s Comprehensive Stroke Center for providing lifesaving stroke care, including the administration of interventions capable of improving outcomes, especially when provided as soon as possible after the onset of a stroke.
Strong Memorial Hospital received AHA/ASA’s new Advanced Therapy award, which indicates that surgical intervention was employed in at least 50% of applicable patients within 90 minutes for direct arriving and within 60 minutes for transfer patients.  This award was created in recognition of new acute stroke care guidelines that recommend endovascular therapy for eligible patients. Thrombectomy is credited with leading to faster and more complete reperfusion for certain patients and is considered a mainstay of effective stroke care. Strong Memorial is one of only two New York State hospitals outside of New York City to be recognized with Advanced Therapy designation.
Strong Memorial Hospital also received the AHA/ASA’s Stroke Gold Plus with Honor Roll Elite award, which recognizes a door-to-clot-busting medication time within 60 minutes for at least 85 percent of applicable stroke patients.
“We are extremely proud of the teams that provide stroke care across UR Medicine hospitals,” said neurologist Curtis Benesch, M.D. M.P.H., Chief of Stroke and Medical Director of the UR Medicine Comprehensive Stroke Center.  “This is truly a system-wide approach that brings together neurologists, neurosurgeons, emergency room physicians, anesthesiologists, technologists, and acute care nurses and providers, and harnesses technologies such as telemedicine to deliver fast, high-quality care regardless to which hospital a stroke patient is transported.”

Read More: AHA Recognizes UR Medicine for Excellence in Stroke Care

URMC to Lead First Gene Therapy Study for Batten Disease

Wednesday, November 3, 2021

The University of Rochester Medical Center (URMC) will serve as the lead study site in the U.S. for an experimental treatment being developed by Neurogene for CLN5 Batten disease, a rare and fatal neurodegenerative disorder. 

“CLN5 is a devastating and rapidly progressive neurodegenerative disease in children that leads to vision loss, cognitive and motor impairment, seizures and, ultimately, premature death,” said Jonathan W. Mink, M.D., Ph.D., the Frederick A. Horner MD Distinguished Professor in Pediatric Neurology, Chief of Child Neurology at URMC. “This trial will move research forward in developing a potentially disease-modifying treatment for CLN5 disease, providing hope to individuals and families where currently none exists.”

Batten disease is a group of rare, inherited neurodegenerative diseases also called neuronal ceroid lipofuscinoses (NCLs).  The CLN5 subtype is caused by a variants in the CLN5 gene, which leads to disruption of normal protein function.  The disease will often first appear and be diagnosed in childhood.  There are currently no approved treatments that can reverse the symptoms of this disease.

The Medical Center is home to the University of Rochester Batten Center (URBC), which is led by Mink and is one of the nation’s premier centers dedicated to the study and treatment of this condition.  

This clinical trial is possible because of the work started back in 2001 by Mink, URMC neurologist Frederick Marshall, and others to understand the natural history of these complex diseases.  Working with patients from across the U.S., the team created the Unified Batten Disease Rating Scale, which tracks and quantifies how the different forms of disease progress over time.  This tool is employed by researchers across the world to evaluate patients and develop and test new potential therapies.

The planned open-label phase 1/2 clinical trial will evaluate a single intraventricular dose delivered directly into cerebrospinal fluid in the brain. The treatment, called NGN-101, uses an adeno-associated virus to deliver a healthy version of CLN5 gene directly to the central nervous system. Animal studies have shown that the treatment has the potential to halt the key features of disease progression, including vision, motor, cognitive, and behavioral declines.   

“At this point for CLN5 disease, what we can offer patients is limited to managing some of their symptoms, and even standard treatment for symptoms like seizures are not consistently effective,” said Mink.  “This new study also has the potential to inform development of gene therapies for other forms of the disease. It is a moment that the research community and patients and families have been waiting a long time to come.”

Neurogene’s NGN-101 was recently cleared by the Food and Drug Administration to begin clinical trials and has received Orphan Drug Designation by the U.S. and European regulatory agencies.  URMC anticipates enrolling its first study participants in early 2022.  Due to the rare nature of CNL5, Mink anticipates that patients from across the U.S. will travel to Rochester to participate in the study.  Other URMC researchers involved in the clinical trial include Amy Vierhile, D.N.P. Jennifer Vermilion, M.D., Heather Adams, Ph.D., and Erika Augustine, M.D. 

Resident Interviews

Sunday, August 1, 2021

The Department of Neurology would like to welcome residency applicants, interviewing on Monday, January 3rd.

Child Neurology Applicants

Nicholas Benjamin – Drexel University College of Medicine
Cristina Pinto – Rutgers School of Medicine
Arkadip Saha – California Northstate University
Rachel Wlock – Western Michigan University

Benesch and Glance Author New Recommendations on Surgical Stroke Risk

Thursday, June 3, 2021

URMC neurologist Curt Benesch, M.D., M.P.H., and anesthesiologist Laurent Glance, M.D., lead the effort to develop new American Heart Association/American Stroke Association (AHA/ASA) recommendations to lower the risk of perioperative acute stroke.

The statement, which was published in the journal Circulation, focuses on the cerebrovascular complications of non-cardiac surgery and summarizes the current literature concerning the preoperative neurological risk stratification and management of patients before undergoing non-cardiac, non-neurological surgery; intraoperative strategies to mitigate the risk of stroke; and the identification and treatment of patients who experience a perioperative stroke.

Benesch and Glance served as chair and vice chair of a panel of surgeons, anesthesiologists, neurologists, and nurses convened by the AHA/ASA to draft the statement. Robert Holloway, M.D., M.P.H., chair of the Department of Neurology, also served on the panel. The group conducted a literature review that emphasized publications based on randomized, controlled trials, followed by those describing meta-analyses, very large administrative databases and quality registries, and relevant, smaller observational studies. The final scientific AHA/ASA statement was endorsed by the American Academy of Neurology and the American Association of Neurological Surgeons. Benesch and Glance also co-authored an earlier companion paper on the perioperative risks of stroke in patients undergoing cardiac surgery.

Perioperative stroke can be defined as any embolic, thrombotic, or hemorrhagic cerebrovascular event with motor, sensory, or cognitive dysfunction lasting at least 24 hours, occurring intraoperatively or within 30 days after surgery. The incidence of perioperative stroke in patients undergoing non-cardiac, non-neurological surgery is between 0.1% and 1.0%, a number that has risen since 2004 in both men and women and across races and ethnic groups. More than 60% of in-hospital strokes are likely perioperative, occurring on either a surgical service or in the angiography suite.

The new statement stratifies preoperative risk factors, provides guidance on stroke recognition in the perioperative setting, and details stroke prevention strategies, including management of medications, blood pressure, blood transfusion, ventilation, and anesthetic technique. The statement also recommends that large vessel occlusions (LVO) -- ischemic strokes that result from a blockage in one of the major arteries of the brain and represent 10% of perioperative strokes -- be treated via mechanical thrombectomy. In instances where clinical situations lack high-quality clinical trial evidence, recommendations reflect the best evidence available and the consensus of experts to provide pragmatic guidance to practitioners who must make real-world decisions every day in clinical practice.

AHA/ASA Scientific Statements:

Perioperative Neurological Evaluation and Management to Lower the Risk of Acute Stroke in Patients Undergoing Noncardiac, Nonneurological Surgery

Considerations for Reduction of Risk of Perioperative Stroke in Adult Patients Undergoing Cardiac and Thoracic Aortic Operations: A Scientific Statement From the American Heart Association

What’s the story with brain fog and menopause?

Sunday, May 16, 2021

"Growing evidence says this is real," says Miriam Weber, an associate professor of neurology and of obstetrics and gynecology. "Multiple studies have shown declines in memory and attention," she says. "What we don't know is whether it persists. So far it seems like it may be temporary, just through the transition" from perimenopause through menopause.

Read More: What’s the story with brain fog and menopause?

Gretchen Birbeck Receives Grant to Explore Intersection of Infectious Diseases and Neurological Disorders

Wednesday, May 12, 2021

University of Rochester Medical Center (URMC) neurologist Gretchen Birbeck, M.D., M.P.H., has received a $4.3 million award from the National Institutes of Neurological Disorders and Stroke (NINDS) to continue her research in sub-Saharan Africa on the neurological problems that arise in people recovering from malaria, HIV, and other infectious diseases, including COVID.

The NINDS Research Program Award, which uses the R35 funding mechanism, is given to investigators whose record of research achievement demonstrates an ability to make major contributions to the field of neuroscience. The eight-year award is intended to provide recipients the freedom to embark on ambitious, creative, and longer-term research projects, without the constraints of specific aims.

Birbeck has spent the last 25 years working in Zambia and Malawi in collaboration with local government ministries, medical schools, hospitals, and other U.S.-affiliated neuroscientists to identify the mechanisms of common neurological disorders and improve care through evidence-based interventions and clinical trials. Her research has focused on evaluating outcomes of cerebral malaria and other brain infections in children, and the neurological symptoms that arise from chronic HIV infection and treatments. These diseases -- which are prevalent in sub-Saharan Africa -- have broad effects on cognitive, behavioral, quality-of-life, and economic outcomes.

Birbeck will initially focus on two research projects:

  • Nearly one-third of cerebral malaria survivors develop epilepsy or other neurological conditions soon after recovery. Previous research by Birbeck has demonstrated that improved seizure control and management of aggressive fever caused by malaria could provide the key to decreasing the risk of brain injury and developing epilepsy. Birbeck and her team will examine the role of neuroinflammation in structural injury and neurologic morbidity with laboratory assessments of acute inflammation, serial neuroimaging, and long-term neurological outcomes. Researchers will also investigate the effects of co-infection with COVID on children who have recovered from malaria.
  • Given the widespread availability of HIV therapies, the next challenge in neuro-HIV care in Africa includes disorders associated with chronic low grade inflammation brought about by the virus and the toxicity of long-term use treatments such antiretroviral drugs. Specifically, studies have shown high rates of cerebrovascular disease in children with HIV, despite long-standing effective treatment of the virus. Utilizing a network of rural and urban HIV clinics, the team will study HIV-associated accelerated aging of the nervous system. Given its highly inflammatory state, the researchers will examine whether COVID could potentially contribute to this burden in children. The team will also see if COVID infection in adults with HIV contributes to cognitive impairment, psychiatric symptoms, strokes, neuropathies, and/or seizures.

The projects involve researchers, clinicians, and students and trainees from URMC, the University of Zambia's University Teaching Hospitals, Queen Elizabeth Central Hospital in Malawi, the University of Malawi College of Medicine, the Centre for Infectious Disease Research in Zambia, and a consortium of rural hospitals in Zambia led by Chikankata Hospital. The research program award will also help provide the infrastructure, mentorship and an environment for scholarship and training for both U.S. and African academics.

Read More: Gretchen Birbeck Receives Grant to Explore Intersection of Infectious Diseases and Neurological Disorders

Don't sleep much? UK study suggests it could lead to dementia

Wednesday, April 21, 2021

A new study observing the sleep patterns of nearly 8,000 adults in the United Kingdom goes against earlier beliefs about the connection between sleep duration and the possible development of dementia later in life.

"Previous studies have indicated people who sleep excessively, or long sleepers, tend to have an increased risk for dementia," said Dr. Alice Hoagland, a sleep specialist with Rochester Regional Health. "But this is the first study that indicated that people who biologically were short sleepers also had a higher increased risk for dementia."

The study followed people for 25 years, beginning when they were age 50. It found that people who slept six hours or less had a higher risk of being diagnosed with dementia in their 70s.

Doctors with both Rochester Regional Health and the University Rochester Medical Center had many questions about the study - and not all of them could be answered based on the findings.

"I would be very hard pressed to say that being a very short sleeper, sort of staying up late at night and getting up early in the morning and all that, is predictive of developing dementia because we simply don't know which way this goes," said Dr. Alice Hoagland, director of Rochester Regional Health's Insomnia Clinic.

"Whether these are people who just naturally get six hours of sleep or less - because there are people who are like that - or whether these are people who would like to sleep longer and they just can't because they don't have the opportunity, that's yet to be seen," said said Dr. Michael Yurcheshen, a professor of neurology and sleep medicine with URMC.

"We certainly do see patients in our practice here who do get six or fewer hours of sleep who do seem to function just fine," said Dr. Yurcheshen.

Read More: Don't sleep much? UK study suggests it could lead to dementia

Rates of Parkinson’s disease are exploding. A common chemical may be to blame

Thursday, April 8, 2021

Asked about the future of Parkinson's disease in the US, Dr Ray Dorsey says, "We're on the tip of a very, very large iceberg."

Dorsey, a neurologist at the University of Rochester Medical Center and author of Ending Parkinson's Disease, believes a Parkinson's epidemic is on the horizon. Parkinson's is already the fastest-growing neurological disorder in the world; in the US, the number of people with Parkinson's has increased 35% the last 10 years, says Dorsey, and "We think over the next 25 years it will double again."

Most cases of Parkinson's disease are considered idiopathic -- they lack a clear cause. Yet researchers increasingly believe that one factor is environmental exposure to trichloroethylene (TCE), a chemical compound used in industrial degreasing, dry-cleaning and household products such as some shoe polishes and carpet cleaners.

Read More: Rates of Parkinson’s disease are exploding. A common chemical may be to blame

Clinical trials are moving out of the lab and into people’s homes

Thursday, February 18, 2021

After the pandemic forced thousands of trials to shut down, researchers found clever ways to conduct human studies remotely — while reaching more people, quickly and cheaply.

Remote trials are likely to persist in a post-pandemic era, researchers say. Cutting back on in-person visits could make recruiting patients easier and reduce dropout rates, leading to quicker, cheaper clinical trials, said Dr. Ray Dorsey, a neurologist at the University of Rochester who conducted remote research for years.

In fact, he noted, enrollment in one of his current virtual studies, which is tracking people with a genetic predisposition to Parkinson's, actually surged last spring. "While most clinical studies were paused or delayed, ours accelerated in the midst of the pandemic," he said.

Read More: Clinical trials are moving out of the lab and into people’s homes

New Research Sheds Light on Vision Loss in Batten Disease

Friday, February 5, 2021

eyeProgressive vision loss, and eventually blindness, are the hallmarks of juvenile neuronal ceroid lipofuscinosis (JNCL) or CLN3-Batten disease. New research shows how the mutation associated with the disease could potentially lead to degeneration of light sensing photoreceptor cells in the retina, and subsequent vision loss.

"The prominence and early onset of retinal degeneration in JNCL makes it likely that cellular processes that are compromised in JNCL are critical for health and function of the retina," said Ruchira Singh, Ph.D., an associate professor in the Department of Ophthalmology and Center for Visual Science and lead author of the study which appears in the journal Communications Biology. "It is important to understand how vision loss is triggered in this disease, what is primary and what is secondary, and this will allow us to develop new therapeutic strategies."

Batten disease is caused by a mutation in the CLN3 gene, which is found on chromosome 16. Most children suffering from JNCL have a missing part in the gene which inhibits the production of certain proteins. Rapidly progressive vision loss can start in children as young as 4, who eventually go on to develop learning and behavior problems, slow cognitive decline, seizures, and loss of motor control. Most patients with the disease die between the ages of 15 and 30.

It has been well established that vision loss in JNCL is due to degeneration of the light-sensing tissue in the retina. The vision loss associated with JNCL can precede other neurological symptoms by many years in some instances, which often leads to patients being misdiagnosed with other more common retinal degenerations. However, one of the barriers to studying vision loss in Batten disease is that mouse models of CLN3 gene mutation do not produce the retinal degeneration or vision loss found in humans. Additionally, examination of eye tissue after death reveals extensive degeneration of retinal cells which does not allow researchers to understand the precise mechanisms that lead to vision loss.

URMC is a hub for Batten disease research. The Medical Center is home to the University of Rochester Batten Center (URBC), one of the nation's premier centers dedicated to the study and treatment of this condition. The URBC is led by pediatric neurologist Jonathan Mink, M.D., Ph.D., who is a co-author of the study. Batten disease is also one of the key research projects that will be undertaken by the National Institute of Child Health and Human Development-supported University of Rochester Intellectual and Development Diseases Research Center.

To study Batten disease in patient's own cells, the research team reengineered skin cells from patients and unaffected family members to create human-induced pluripotent stem cells. These cells, in turn, were used to create retinal cells which possessed the CLN3 mutation. Using this new human cell model of the disease, the new study shows for the first time that proper function of CLN3 is necessary for retinal pigment epithelium cell structure, the cell layer in the retina that nourishes light sensing photoreceptor cells in the retina and is critical for their survival and function and thereby vision.

Singh points out that understanding how RPE cell dysfunction contributes to photoreceptor cell loss in Batten disease is important first step, and it will enable researchers to target specific cell type in the eye using potential future gene therapies, cell transplantation, and drug-based interventions.

Additional co-authors of the study include Cynthia Tang, Jimin Han, Sonal Dalvi, Kannan Marian, Lauren Winschel, Celia Soto, Chad Galloway, Whitney Spencer, Michael Roll, Lisa Latchney, Erika Augustine, Vamsi Gullapalli, and Mina Chung with URMC, David Williams and Stephanie Volland with the University of California, Los Angeles, Vera Boniha with the Cleveland Clinic, and Tyler Johnson with Sanford Research. The research was supported with funding from the National Eye Institute BrightFocus Foundation, the David Bryant Trust, the Foundation of Fighting Blindness, the Knights Templar Eye Foundation, the Retina Research Foundation, and Research to Prevent Blindness.

Ann Leonhardt Caprio elected as a Fellow of the AHA

Saturday, January 2, 2021

We are pleased to announce that Ann Leonhardt Caprio, DNP, RN, ANP-BC, UR Comprehensive Stroke Center Program Coordinator, has recently been named as a Fellow of the American Heart Association (FAHA), Council of Cardiovascular and Stroke Nursing. Highly competitive, election as a FAHA recognizes the recipient's scientific accomplishments, volunteer leadership and service. Earning the FAHA credential demonstrates to colleagues and patients that the recipient has been welcomed into one of the world's most eminent organizations of cardiovascular and stroke professionals.

Fellowship recognizes leaders within the AHA who have made significant contributions to the field of cardiovascular and cerebrovascular science and medicine. FAHA demonstrate outstanding credentials and achievement, contribute to the AHA through involvement at the local, affiliate, and/or national level, and receive a strong recommendation from leaders in their field.