Celebrating Decades of Advances in Myotonic Dystrophy Research

Tuesday, September 17, 2024

On September 15, Strong Memorial Hospital lit up blue to commemorate Myotonic Dystrophy Awareness Day and the significant scientific progress achieved in Rochester and beyond over the past 30 years. These advancements have brought researchers closer than ever to developing treatments for this debilitating disease.

The recent renewal of a joint University of Rochester Medical Center (URMC) and University of Florida Paul D. Wellstone Muscular Dystrophy Cooperative Research Center will further strengthen these efforts. URMC, one of the original Wellstone Centers established in 2003, has been continuously funded by the National Institutes of Health to study myotonic dystrophy and facioscapulohumeral muscular dystrophy.

"The Wellstone Center program has been instrumental in our understanding of the molecular and physiological processes underlying the most common form of adult-onset muscular dystrophy, myotonic dystrophy," said Charles Thornton, MD, co-director of the Wellstone Center. "This knowledge has enabled us to develop promising treatments for this disease. The center's organization, which includes the National Registry for myotonic dystrophy, is built upon strong and longstanding collaborations between basic researchers at the University of Florida and clinical experts at the University of Rochester."

The new funding will support research in Rochester and Florida aimed at accelerating clinical research for novel gene therapies in myotonic dystrophy, type one (DM1), and prepare to translate these therapies into clinical practice, if approved. It is anticipated that modified versions of these therapies could also be effective for myotonic dystrophy, type two (DM2). To expedite clinical trials for DM2, researchers will expand their basic and clinical research efforts in this area.

Researchers at the University of Rochester Medical Center have been at the forefront of these advancements. Over three decades ago, Robert (Berch) Griggs, MD, Richard Moxley, MD, and Thornton were the first to describe myotonic dystrophy type 2. In collaboration with patients and families, the national registry has been an invaluable resource for understanding the natural history of the disease and conducting clinical research.

Cleaning up the aging brain

Thursday, August 15, 2024

Rochester scientists are restoring the brain’s trash disposal system with a drug currently used to induce labor

Alzheimer’s, Parkinson’s, and other neurological disorders can be seen as “dirty brain” diseases, where the brain struggles to clear out harmful waste. Aging is a key risk factor because, as we grow older, our brain’s ability to remove toxic buildup slows down. However, new research in mice demonstrates that it’s possible to reverse age-related effects and restore the brain’s waste-clearing process.

“This research shows that restoring cervical lymph vessel function can substantially rescue the slower removal of waste from the brain associated with age,” says Douglas Kelley, a professor of mechanical engineering at the University of Rochester. “Moreover, this was accomplished with a drug already being used clinically, offering a potential treatment strategy.”

Kelley is one of the lead authors of the study, which appears in the journal Nature Aging, along with Maiken Nedergaard, codirector the University’s Center for Translational Neuromedicine. The study is one of many collaborations carried out by researchers at Rochester’s Hajim School of Engineering & Applied Sciences and the Medical Center.

First described by Nedergaard and her colleagues in 2012, the glymphatic system is the brain’s unique waste removal process that uses cerebrospinal fluid (CSF) to wash away excess proteins generated by energy-hungry neurons and other cells in the brain during normal activity. The discovery pointed the way to potential new approaches to treat diseases commonly associated with the accumulation of protein waste in the brain, such as Alzheimer’s (beta amyloid and tau) and Parkinson’s (alpha-synuclein). In healthy and young brains, the glymphatic system does a good job of flushing away these toxic proteins; however, as we age, this system slows, setting the stage for these diseases.

Study Reveals Brain Fluid Dynamics as Key to Migraine Mysteries, New Therapies

Friday, July 5, 2024

New research describes for the first time how a spreading wave of disruption and the flow of fluid in the brain triggers headaches, detailing the connection between the neurological symptoms associated with aura and the migraine that follows. The study also identifies new proteins that could be responsible for headaches and may serve as foundation for new migraine drugs.

“In this study, we describe the interaction between the central and peripheral nervous system brought about by increased concentrations of proteins released in the brain during an episode of spreading depolarization, a phenomenon responsible for the aura associated with migraines,” said Maiken Nedergaard, MD, DMSc, co-director of the University of Rochester Center for Translational Neuromedicine and lead author of the new study, which appears in the journal Science. “These findings provide us with a host of new targets to suppress sensory nerve activation to prevent and treat migraines and strengthen existing therapies.”

Maiken Nedergaard receives Nakasone Award

Wednesday, May 1, 2024

Maiken Nedergaard, a professor of neurology, has been recognized by the International Human Frontier Science Program Organization with its 2024 Nakasone Award for her “groundbreaking discovery and exploration” of the glymphatic system, the brain’s unique waste removal system, and the role that sleep plays in its function.

Nedergaard is codirector of the Center for Translational Neuromedicine, which maintains research facilities at the University of Rochester Medical Center and the University of Copenhagen. In 2012, her lab first described the glymphatic system, a previously unknown network of channels that piggybacks on blood vessels. The system is used to transport cerebrospinal fluid deep into brain tissue and flush away toxic waste, including beta amyloid and tau, two proteins associated with Alzheimer’s disease.

• Learn more about the award and Nedergaard’s pioneering research.

New Imaging Method Illuminates Oxygen's Journey in the Brain

Thursday, March 28, 2024

The human brain consumes vast amounts of energy, which is almost exclusively generated from a form of metabolism that requires oxygen.  While the efficient and timely delivery of oxygen is known to be critical to healthy brain function, the precise mechanics of this process have largely remained hidden from scientists. 

A new bioluminescence imaging technique, described today in the journal Science, has created highly detailed, and visually striking, images of the movement of oxygen in the brains of mice.  The method, which can be easily replicated by other labs, will enable researchers to more precisely study forms of hypoxia in the brain, such as the denial of oxygen to the brain that occurs during a stroke or heart attack. The new research tool is already providing insight into why a sedentary lifestyle may increase risk for diseases like Alzheimer’s. 

“This research demonstrates that we can monitor changes in oxygen concentration continuously and in a wide area of the brain,” said Maiken Nedergaard, co-director of the Center for Translational Neuromedicine (CTN), which is based at both the University of Rochester and the University of Copenhagen. “This provides us a with a more detailed picture of what is occurring in the brain in real time, allowing us to identify previously undetected areas of temporary hypoxia, which reflect changes in blood flow that can trigger neurological deficits.” 

Nedergaard Recognized with Nakasone Award for Pioneering Research

Tuesday, March 26, 2024

Maiken Nedergaard, MD, DMSc, has been recognized by the International Human Frontier Science Program Organization (HFSPO) with its 2024 Nakasone Award for her “groundbreaking discovery and exploration” of the glymphatic system, the brain’s unique waste removal system, and the role that sleep plays in its function.  

“Dr. Nedergaard forever changed the way we understand sleep as an essential biological function that promotes brain health and plays a crucial role in preventing diseases, such as Alzheimer’s, Parkinson’s, and Huntington’s diseases,” said HFSPO secretary-general Pavel Kabat. “It is a fundamental discovery worthy of being honored with the 2024 HFSPO Nakasone Award.”

Nedergaard is co-director for the Center for Translational Neuromedicine, which maintains research facilities at the University of Rochester Medical Center and the University of Copenhagen.  In 2012, her lab first described the glymphatic system, a previously unknown network of channels that piggybacks on blood vessels.  The system is used to transport cerebrospinal fluid deep into brain tissue and flush away toxic waste, including beta amyloid and tau, two proteins associated with Alzheimer’s disease.