News

Donna Landrigan - with her husband, Dan, and children, Kyle, left, Emma and Zach - says, "I'm so thankful to be back with my family" after surviving an illness that could have killed her. (George Bates For The Washington Post Kevin Rivoli)

As the all-too-familiar number flashed on his cellphone shortly before 9 p.m., Dan Landrigan reflexively braced himself for bad news. The caller was one of the doctors treating his wife, Donna, who had been in a coma for four months. She sounded pretty choked up, Landrigan recalled.

I think we've found out what's making your wife sick, the specialist at the University of Rochester's Strong Memorial Hospital told him, as a wave of relief flooded his body. I was completely shocked, said the telecommunications executive, now 37. My hope for so long was that this was the phone call I was going to get.

Doctors at three Upstate New York hospitals had been stymied by Donna Landrigan, whose case was unlike any they had seen. The previously healthy 35-year-old mother of three had initially become so psychotic she had to be tied to her hospital bed to keep her from hurting herself or attacking others. A few weeks later she had been placed in a medically induced coma to protect her from the continuous seizures wracking her brain, spasms that could have killed her.

The remarkable story of a Canandaigua, N.Y. woman who emerged from a more than six month long coma is now being used to educate physicians about how to recognize and treat her extremely rare condition. The elusive source of her uncontrolled seizures, which physicians at the University of Rochester Medical Center (URMC) ultimately traced to ovarian cancer, and her subsequent recovery are the subject of a paper appearing today in the journal Neurology.org.

During the last two decades, scientists and doctors have developed a potent mix of medications that nearly stops HIV in its tracks for most patients. This combination antiretroviral therapy, or cART, can knock down levels of the virus in the body to a thousandth or less of what it would otherwise be. That means more years of a healthy life for many HIV patients.

But that success does not extend fully to the brain, where an assault triggered by the virus continues despite treatment. About half of patients infected by HIV experience symptoms, such as difficulty thinking or concentrating, as a result of the effects of the virus on the brain. So far, nearly a dozen studies in people have failed to identify a drug useful for treating the condition, which is known as HIV-associated neurocognitive disorder.

At the University of Rochester Medical Center, neurologist Harris A. Handy Gelbard, M.D., Ph.D., leads a team of scientists intent on developing the world’s first treatment designed specifically to prevent or ease the neurological effects of HIV. This week, Gelbard – whose team has spent a decade exploring novel ways to treat the condition – received word that the project would continue for another five years, thanks to $6.7 million in new funding from the National Institute of Mental Health.

Patients, doctors and nurses in Rochester will be a key part of a major national research study initiated by the Michael J. Fox Foundation to identify biomarkers to track the progression of Parkinson's disease in a precise way that is impossible to do today.

The study, known as the Parkinson's Progression Markers Initiative, seeks to fill a crucial gap: While doctors can generally predict the course that the disease takes in patients, there is no reliable, objective way to actually measure how the disease is progressing. A measure known as a biomarker, based on a biological measure that would be consistent among all patients, would help researchers measure the effectiveness of current treatments on their patients.

A reliable biomarker is also a critical tool to have in hand for scientists trying to identify new drugs to treat the disease. Currently there is no known biomarker for Parkinson's disease.

The study of approximately 600 people around the world will include up to 30 people at the University of Rochester Medical Center, which is one of 18 participating sites worldwide. The Rochester site is led by neurologist Irene Richard, M.D.

A large international study aimed at improving the care of muscular dystrophy patients worldwide is being launched by physicians, physical therapists, and researchers at the University of Rochester Medical Center.

Neurologist Robert “Berch” Griggs, M.D., is heading the study of treatments for Duchenne muscular dystrophy, the most common form of the disease that affects children. The condition, which affects boys almost exclusively, progresses rapidly. Boys’ symptoms start when they are toddlers; untreated, they end up in a wheelchair before they become teenagers. With today’s best treatments, the disease, which affects about 28,000 boys and young men in the United States, is often fatal by the time a patient reaches his 20s or early 30s.

Top: The dark area shows a part of the mouse brain where dopamine neurons have died when toxic LRRK2 is active. Below: Dopamine neurons (in red) thrive when toxic gene activity is blocked.

A technology developed at the University of Rochester Medical Center that enables scientists to turn on genes exactly when and where they want in the nervous system is helping scientists in the hunt for an agent to stop Parkinson's disease.

The work employs the herpes virus – the bane of so many people, but in this instance an aid to researchers – to help mimic in mice the activity of a gene that plays a role in some cases of Parkinson's disease in people. Scientists used the virus to carry a copy of the faulty gene into mice, creating brain conditions identical to Parkinson's disease. The step allowed researchers to then screen compounds in the search for one that might stop the toxicity of the gene.

The team of scientists, led by investigators at Johns Hopkins University, found two promising candidates and reported its results August 22 in Nature Medicine.

“While there are many drugs to treat symptoms of Parkinson's disease, there is currently no drug available to stop the death of nerve cells that is at the core of the disease,” said neuroscientist William Bowers, Ph.D., of the University of Rochester Medical Center. “This study identifies a few viable candidates that show promise against one form of the disease.”

Nearly two decades after they identified the specific genetic flaw that causes a common type of muscular dystrophy, scientists believe they have figured out how that flaw brings about the disease. The finding by an international team of researchers, including scientists at the University of Rochester Medical Center, settles a longstanding question about the roots of facioscapulohumeral muscular dystrophy or FSHD. The work was published online August 19 in the journal Science Mag.

Unraveling how the genetic defect causes FSHD has been especially challenging for scientists. Unlike with many genetic diseases, their identification of the mutation that is the basis of FSHD did not quickly lead to a deeper understanding of how the disease actually comes about. The lack of clarity has posed a significant barrier to researchers hoping to turn the knowledge of the genetic flaw into significant progress for patients.

Scientists have taken another important step toward understanding just how sticking needles into the body can ease pain.

In a paper published online May 30 in Nature Neuroscience, a team at the University of Rochester Medical Center identifies the molecule adenosine as a central player in parlaying some of the effects of acupuncture in the body. Building on that knowledge, scientists were able to triple the beneficial effects of acupuncture in mice by adding a medication approved to treat leukemia in people.

The new findings add to the scientific heft underlying acupuncture, said neuroscientist Maiken Nedergaard, M.D., D.M.Sc., who led the research. Her team is presenting the work this week at a scientific meeting, Purines 2010, in Barcelona, Spain.

Frederick A. Horner, M.D., the first chief of Child Neurology at the University of Rochester School of Medicine and Dentistry, died April 20, 2010, at the age of 90.

Dr. Horner graduated in 1947 from the University of Rochester School of Medicine and Dentistry and went on to complete a pediatric internship and an assistant residency here at Strong Memorial Hospital. After specialty training elsewhere, he joined the faculty in 1968 to become the first chief of Child Neurology at the University of Rochester.

Dr. Horner is survived by his wife, Marjorie; sister, Kathryn Altmas; brother, David Horner; nieces and nephews. Services will be private. Contributions in memory of Dr. Horner may be made to the Dr. Frederick A. Horner Social Work Emergency Fund, University of Rochester, P.O. Box 270032, Rochester, NY 14627.

The largest Batten Disease research and support organization in North America named the University of Rochester Medical Center as a Batten Disease Center of Excellence today. The Ohio-based organization, Batten Disease Support and Research Association, has chosen URMC because of its comprehensive services for patients and its long clinical and research history with the disease.

Batten Disease is a rare neurodegenerative syndrome that erupts with little warning. It first steals sight, then cripples cognitive and motor capacities, and while different variations of the disease brings a difference age of onset and progression, it is, ultimately, terminal. The most common form is juvenile, in which symptoms begin between 5 and 8 years of age. There are between 500 and 1,000 people with Batten Disease in the United States and only a few thousand in the world.

"Finding treatment with a comprehensive team that has experience with the disease is incredibly hard for families," said Jonathan Mink, M.D., Ph.D., chief of Child Neurology and professor of Neurology, Neurobiology & Anatomy and Pediatrics at URMC. "The Batten Disease Support and Research Association is hoping to streamline families' search for expertise by endorsing centers like ours."

Lance Johnston, Executive Director of the BDSRA, awarding Dr. Jonathan Mink with the Batten Disease Center of Excellence plaque.

The largest Batten Disease research and support organization in North America named the University of Rochester Medical Center (URMC) as a Batten Disease Center of Excellence today. The Ohio-based organization, Batten Disease Support and Research Association, has chosen URMC because of its comprehensive services for patients and its long clinical and research history with the disease.

Batten Disease is a rare neurodegenerative syndrome that erupts with little warning. It first steals sight, then cripples cognitive and motor capacities, and while different variations of the disease brings a difference age of onset and progression, it is, ultimately, terminal. The most common form is juvenile, in which symptoms begin between 5 and 8 years of age. There are between 500 and 1,000 people with Batten Disease in the United States and only a few thousand in the world.

Finding treatment with a comprehensive team that has experience with the disease is incredibly hard for families, said Jonathan Mink, M.D., Ph.D., chief of Child Neurology and professor of Neurology, Neurobiology & Anatomy and Pediatrics at URMC. The Batten Disease Support and Research Association is hoping to streamline families’ search for expertise by endorsing centers like ours.

Treatment decisions involving patients with severe brain injury vary widely between medical institutions, and appear to be more driven by hospital and physician practices and priorities. In an article appearing today in the New England Journal of Medicine, physicians at the University of Rochester Medical Center argue that providers must take steps to develop a process of communication and decision-making that gives greater weight and voice to the informed preferences of patients and their families.

"The decision whether or not to continue aggressive medical treatment for patients with severe brain injury requires tough discussions about the benefits and burdens," said URMC neurologist Robert Holloway, M.D., co-author of the article. "Such decisions are often made without a clear understanding of the patient's medical prognosis and with suboptimal input from the patient and family. The possibility that decisions of this magnitude are being overly influenced by factors other than patient values and preferences informed by an understanding of the medical options and potential outcomes should make us cringe."

A medication most often used to treat heart arrhythmias also reduces a central symptom of myotonic dystrophy, the most common type of muscular dystrophy in adults. The findings about the medication mexiletine -- a chemical cousin of lidocaine -- were published May 4 in the journal Neurology, a publication of the American Academy of Neurology.

Currently there is no drug approved to treat myotonic dystrophy, an inherited disease that is marked by progressive muscle weakness. While the course of the disease can vary dramatically from patient to patient, symptoms besides weakness can include muscle stiffness, difficulty speaking and swallowing, problems walking, and in some patients, heart problems and cataracts. Physicians estimate that approximately 40,000 Americans have the condition.

The University of Rochester Medical Center (URMC) has received a total of $4.5 million in funding from the Empire State Stem Cell Board for research in neurological disease, cancer, cardiovascular disease, and bone repair.

“Stem cell and regenerative medicine represents one of the scientific foundations of the Medical Center’s strategic plan for growth in biomedical research,” said Bradford C. Berk, M.D., Ph.D., CEO of URMC. “These grants represent critical resources necessary to advance our understanding of stem cells and bring these discoveries into new therapies for a host of diseases.”

Berk is also a member of Funding Committee of the Empire State Stem Cell Board.

The awards to URMC were part of $34.7 million in grants recently announced by Governor David Paterson. To date, URMC scientists have received $8.1 million in research grants from the Empire State Stem Cell Board.

The Hickok Center for Brain Injury hosts a free Brown Bag Educational Panel entitled “The Brain – Living With Epilepsy” on Monday, March 29, 2010 at their Rochester Center located at 114 South Union Street, Rochester, NY 14607 from 11:30 a.m. - 1 p.m.

The panel will feature: J. Craig Henry, MD, Assistant Professor of Neurology, Strong Epilepsy Center; A. James Fessler, III, MD, Assistant Professor of Neurology at University of Rochester and Director of Clinical Research and Assistant Director, Strong Epilepsy Center; and Michael Radell, Community Educator & Camp EAGR Director, Epilepsy Foundation of Rochester-Syracuse-Binghamton.

This is the first of four brown bag educational events the Hickok Center will host throughout 2010. Bring your lunch and learn about the medical and social issues of living with epilepsy. If you or someone you love has epilepsy, here is an opportunity to learn and ask questions of area professionals. Lot and street parking available.

Reservations strongly suggested as seating is limited. To make a reservation, please call (585) 271-8640 x207 or email ghewson@hickokcenter.org to reserve a seat.

A new initiative at the University of Rochester Medical Center will provide academic and industry researchers the expertise and scientific collaboration necessary to conduct early stage clinical studies. The Center for Human Experimental Therapeutics (CHET) represents the first university-based program focused on accelerating the development of novel medical therapies.

This Center consists of both infrastructure and a group of people with decades of combined experience in conducting experimental human therapeutics and running some of the more complex clinical studies in the world, said URMC neurologist Karl Kieburtz, M.D., director of CHET. It is a unique approach that represents a marriage of scientific expertise and logistical competence, with a focus on the early stage of drug development.

An early stage clinical trial of the experimental drug dimebon (latrepirdine) in people with Huntington's disease appears to be safe and may improve cognition. That is the conclusion of a study published today in the Archives of Neurology.

This is the first clinical trial that has focused on what is perhaps the most disabling aspect of the disease, said University of Rochester Medical Center neurologist Karl Kieburtz, M.D., the lead author of the study. While more investigation needs to be done, these results are encouraging and show, for the first time, a statistically significant benefit in terms of improved cognitive function in patients with Huntington's disease.

Huntington's disease is a progressive neurodegenerative disorder that impacts movement, behavior, cognition, and generally results in death within 20 years of the disease's onset. The disease steadily erodes a person's memory and their ability to think and learn. Over time, this cognitive impairment contributes to the loss of the ability to work and perform the activities of daily life. There are no treatments currently available that effectively alter the course of the disease or improve cognition.

The Food and Drug Administration has approved the drug fampridine-SR for the treatment of multiple sclerosis. Researchers at the University of Rochester Medical Center (URMC) have been evaluating the effects of the drug in MS for more than 10 years– it is the first medication shown to enhance some neurological functions in people with the disease – and their efforts helped pave the way for today’s action by the FDA.

“This is a good day for people who suffer from multiple sclerosis,” said Andrew Goodman, M.D., chief of the URMC Multiple Sclerosis Center. “Physicians will now have a new tool at their disposal that complements existing disease modifying therapies. For some patients, this drug will be a way to improve walking and help regain some independence in their daily lives.”

After a decade of remarkable growth, total annual funding for biomedical research in the U.S. has decelerated and may have even fallen when adjusted for inflation. That is the conclusion of a study today published in the Journal of the American Medical Association.

"The era of rapid expansion in biomedical research funding that began in the 1990's has ended," said Ray Dorsey, M.D., a neurologist at the University of Rochester Medical Center and lead author of the study. "Looking back at this period, one of the striking observations is that while research funding increased, the number of novel treatments entering the market remained steady. If research funding levels are to return to a phase of growth, we should examine funding priorities, particularly in health services research, and barriers to the development of new therapies."

A study published today in the Archives of Internal Medicine examines the impact of a safety warning issued by the Food and Drug Administration for commonly prescribed antipsychotic medications. The results show the warnings resulted in a decline in usage among the elderly with dementia, yet raise the question as to whether the FDA's system of communicating these warnings is sufficiently targeted and effective.

"Because this medication class has limited evidence of benefit among the elderly with dementia and significantly increases their risk of death, the 'right' magnitude of decline in usage is not clear," said University of Rochester Medical Center neurologist Ray Dorsey, M.D., the study's lead author. "More generally, the study raises larger issues about appropriate prescribing, particularly among the elderly, and the need to improve risk communication to patients and providers."

A Meissner corpuscle, a tiny structure in the skin that allows us to feel light touch. David Herrmann monitors these structures to gauge the extent of a patient's neuropathy.

Neurologist David Herrmann, MBBCh, associate professor of Neurology and of Pathology and Laboratory Medicine at the University of Rochester Medical Center, is taking part in a newly funded nationwide study focusing on a condition known as Charcot-Marie-Tooth disease, a painful nerve condition that affects more than 100,000 Americans.

Herrmann, director of the Peripheral Neuropathy Clinic at Strong Memorial Hospital, is part of a team that has been awarded $6.25 million from the National Institutes of Health. The project is based at Wayne State University in Detroit and includes Herrmann and other collaborators from around the world.

The new funding, part of NIH's Rare Diseases Clinical Research Network, will support the Inherited Neuropathies Consortium for the next five years.

A Rochester neurologist who is widely credited with enhancing the education of neurologists nationwide has been honored by the discipline's largest professional organization.

Ralph Józefowicz, M.D., professor of Neurology and Medicine at the University of Rochester Medical Center, has been awarded the 2010 A.B. Baker Award for Lifetime Achievement in Neurologic Education by the American Academy of Neurology. He will receive the award at AAN's annual meeting in Toronto in April.

Under Józefowicz's leadership, Rochester has become widely recognized as a wellspring of quality education for neurologists. Doctors around the nation who are training in neurology routinely rank Rochester's School of Medicine and Dentistry among their top choices. Within the school, the residents whom Józefowicz teaches typically garner a disproportionate share of teaching awards.

Researchers have developed a novel animal model showing that four commonly used chemotherapy drugs disrupt the birth of new brain cells, and that the condition could be partially reversed with the growth factor IGF-1.

Published early online in the journal Cancer Investigation, the University of Rochester Medical Center study is relevant to the legions of cancer survivors who experience a frustrating decline in cognitive function after chemotherapy treatment, known as chemo brain.

"It is not yet clear how our results can be generally applied to humans but we have taken a very significant step toward reproducing a debilitating condition and finding ways to treat it," said Robert Gross, M.D., Ph.D., professor of Neurology and of Pharmacology and Physiology at URMC and principal investigator of the study.

A neurologist and epilepsy expert at the University of Rochester Medical Center has been named editor in chief of one of the world's leading journals devoted to issues involving the brain and central nervous system.

Robert A. Gross M.D., Ph.D., professor of Neurology and of Pharmacology and Physiology, was named today to lead the medical journal Neurology, the world's leading clinical neurology journal. As editor, Gross assumes a major leadership role in the world of neurology, helping set the direction and focus for the discipline worldwide. He will contribute to decisions about which issues are of most importance to physicians and patients, and which new findings and new research avenues are most worthy of attention.

Gross has been involved with the journal for 20 years, first as a reviewer, then associate editor for the past eight years. During the last two he has also been deputy editor and most recently served as interim editor in chief.

Gross succeeds another Rochester neurologist, Professor Robert Griggs, M.D., who is now president of the American Academy of Neurology, an association of more than 21,000 neurologists and neuroscience professionals that publishes Neurology. Griggs himself served as the editor of the journal from 1997 to 2007.

A study conducted by the University of Rochester Medical Center demonstrates that, for certain patient populations, an experimental device that lowers blood pressure may be a cost effective treatment. The implantable device, called Rheos, is in advanced stages of testing for individuals with drug resistant hypertension.

The study – which appears this month in the Journal of Clinical Hypertension – used data from two large population-based studies and compared the incidence of adverse health events such as stroke and heart attack for groups of individuals with and without the blood pressure lowering benefit of the device. Researchers then projected the health care costs associated with those events over a patient’s lifetime. The results show that if Rheos continues to perform at a level consistent the initial findings in ongoing clinical trials, then the device is a cost effective way to control hypertension.

Our goal was to determine whether or not the benefit of Rheos would offset the higher upfront costs, said Kate C. Young, Ph.D., MPH, an instructor in the departments of Surgery and Neurology at URMC and lead author of the study. What we found is that the device’s cost effectiveness is dependent upon the degree to which it can reduce blood pressure and the starting point of the patient.

Parkinson’s disease progresses more slowly in patients who have higher levels of urate, a chemical that at very high level is associated with gout, scientists have found. While it’s unknown whether the high levels actually somehow protect patients or simply serve as a marker of protection, the finding supports the idea that patients and doctors may one day be able to better predict the course of the illness.

The study, led by scientists at Massachusetts General Hospital and the Harvard School of Public Health and including physicians at the University of Rochester Medical Center, was published online in the Archives of Neurology.

ABC News was recognized with an Emmy Award from the National Academy of Television Arts and Sciences for a Primetime story featuring URMC pediatric neurologist Jonathan Mink, M.D., Ph.D. Dr. Mink, a professor of Neurology, Neurobiology & Anatomy, Pediatrics, and Brain & Cognitive Sciences, focuses his research on the function of the basal ganglia in normal control of movement and the pathophysiology of basal ganglia disorders characterized by abnormal involuntary movements.

Researchers at the University of Rochester Medical Center have found a way to block the genetic flaw at the heart of a common form of muscular dystrophy. The results of the study, which were published today in the journal Science, could pave the way for new therapies that essentially reverse the symptoms of the disease.

The researchers used a synthetic molecule to break up deposits of toxic genetic material and re-establish the cellular activity that is disrupted by the disease. Because scientists believe that potentially all of the symptoms of myotonic dystrophy – the most common form of muscular dystrophy in adults – flow from this single genetic flaw, neutralizing it could potentially restore muscle function in people with the disease.

This study establishes a proof of concept that could be followed to develop a successful treatment for myotonic dystrophy, said URMC neurologist Charles Thornton, M.D., the senior author of the study and co-director of the URMC Wellstone Muscular Dystrophy Cooperative Research Center. It also demonstrates the potential to reverse established symptoms of the disease after they have developed, as opposed to simply preventing them from getting worse.

The pictured microRNA molecule (green) may prevent the thickening of blood vessels walls that leads to clogged vessels and heart attacks.

A newly discovered mechanism controls whether muscle cells in blood vessels hasten the development of both atherosclerosis and Alzheimer's disease, according to an article published online today in the journal Nature.

The study was led by the Gladstone Institute of Cardiovascular Disease in San Francisco, with key contributions from the Aab Cardiovascular Research Institute at the University of Rochester School of Medicine and Dentistry.

Thanks to stem cells, humans develop from a single cell embryo into a complex being with about 250 unique cell types. As the fetus develops, cells divide and multiply (proliferate) in many generations and specialize (differentiate) with each generation until millions of functional cells result (bone, nerve, blood, skin, muscle, etc.). To serve specific roles in the body, some stem cells also switch back and forth between primitive, rapidly proliferating precursors and their mature, functioning, non-proliferating counterparts, a quality called plasticity.