New multidisciplinary clinical center for care, diagnosis and state-of-the-art research
The shared academic, philanthropic and medical mission of the clinic is to revolutionize the treatment and diagnosis of mitochondrial diseases by establishing and integrating state-of-the-art techniques in bioenergetics and therapeutics using a precision medicine approach. The clinic plans to realize this vision by developing two parallel components: 1) a monthly multidisciplinary clinic to evaluate and care for adults and pediatric patients with mitochondrial disease and 2) a reference laboratory for metabolic bioenergetics focused on establishing mitochondrial-targeted clinical, noninvasive laboratory measurements and instruments.
“By establishing the clinic and sharing this vision, we plan to address the unmet clinical, diagnostic and therapeutic needs of the mitochondrial patient community,” said Laura Stanley, Executive Director of FMM. “Clinical needs of the patient community will be coordinated under one roof, and multiple specialists will join together to serve complex patient populations whose symptoms require the collective knowledge of neurologists, geneticists, gastroenterologists and others. UAB and Seahorse Bioscience have made revolutionary advancements in the field of bioenergetics, and UAB’s established research expertise and longstanding work in neuromuscular diseases make it the ideal location for the program.”
Mitochondrial disease can be caused by genetics and mutations to the mitochondrial or chromosomal DNA or can be acquired due to metabolic, aging or environmental stress. Despite significant advances in recognizing, diagnosing and treating patients over the last 40 years, there are still lacks of effective treatments that are targeted to the specific deficit in a patient. The precision instrumentation developed by Seahorse Bioscience and the bioenergetics testing from UAB will allow advances in metabolic and genetic analysis to be applied to the diagnosis and treatment of patients with mitochondrial disorders. Mitochondrial dysfunction is an underlying cause of many neurodegenerative diseases, cancer and cardiometabolic syndromes. From Parkinson’s to Alzheimer’s, diabetes and beyond, an understanding of mitochondrial stresses can lead to better treatments and quality of life for many.
Click to enlargeUAB has a tradition of excellence in research and participation in clinical trials. UAB is also uniquely placed to advance the field of diagnostics, biomanufacturing systems and consumable labware products for biological research. Scientific expertise in mitochondrial medicine is longstanding at UAB and is available through a network of departments and the centers, especially the Center for Free Radical Biology. The UAB Mitochondrial Medicine Laboratory was established in 2011 in the Department of Pathology in the School of Medicine, and has been pioneering translational tests to assess mitochondrial function through noninvasive tests in human subjects.
“The most serious diseases that affect developed nations, such as atherosclerosis, neurodegeneration and diabetes, are known to involve changes in bioenergetic health,” said Victor Darley-Usmar, Ph.D., endowed professor of mitochondrial medicine and pathology, vice-chair for research in the UAB Department of Pathology, and scientific director of the program. “The challenge is to translate the findings in basic research in mitochondrial function and the pathology of disease to the clinic, and this program will be a major step toward achieving that aim. For the first time, we will apply new means of measuring bioenergetic health to the management and care of patients with mitochondrial diseases.”
Seahorse Bioscience developed the enabling technology upon which bioenergetics measurements, for the first time, can provide the necessary precision and reliability required to establish Clinical Laboratory Improvement Amendments (CLIA) tests for mitochondrial pathologies. Seahorse is the industry leader in metabolic analyzers and assay kits for measuring cell metabolism in live cells, in real time. XF Technology and stress test kits render the understanding and diagnosis of mitochondrial disease into a simple, efficient and user-friendly process, enabling researchers to understand better how bioenergetics regulates cellular function. Utilizing XF Technology and a bioenergetics stress test, researchers will measure and analyze respiratory complex activities and mitochondrial DNA damage in white blood cells and platelets from blood samples. This information will then form the basis of a Bioenergetic Health Index (BHI). The test is much easier to administer than a diagnostic muscle biopsy, and can effectively monitor the progression and response of patients to treatment. An important objective for the first three years of the UAB Program and Clinic will be to validate and provide CLIA certification for these tests using the XF platform.
“One of the keys to the resurgence in mitochondrial research and treatment has been our ability to redefine metabolism in the context of the complete cellular architecture of a living cell,” stated David Ferrick, chief scientific officer of Seahorse Bioscience. “Making this complexity addressable allows researchers and physicians to ask and answer questions that were out of reach, and thus limited them to theory and speculation. The combination of compelling patient advocacy by the FMM, basic and clinical expertise of UAB, and enabling technology from Seahorse will be the perfect storm for mitochondrial diseases."
Written by Jim Bakken
Director UAB, Media Relations
Diagnosis and Evaluation Process for Epilepsy Patients
To see full video available through UAB Md Learning Channel, please click on the below link:
Dr. Ver Hoef also covers some of the advanced testing modalities available for patients, including the Wada test (also known as the "intracarotidsodiumamobarbital procedure" (ISAP)), Magnetoencephalography (MEG), and Ictal SPECT.
Visit the following links for more content from the UAB Epilepsy Center:
Utilizing SEEG, the ROSA robot, and NeuroPace in Epilepsy Treatment
Epilepsy Care at UAB Medicine
UAB Epilepsy Center - Level 4 Epilepsy Center
To see the video on UAB MD Learning Channel, click below link:
Jerzy Szaflarski, MD, PhD, discusses the treatment & research within the UAB Epilepsy Center, and highlights what makes this a Level 4 Epilepsy Center. Dr. Szaflarski reviews the prevalence of epilepsy in Alabama, as well as the treatment methodologies and care plans available. Some other key topics discussed include:
- The Definition of Medication Resistance in Epilepsy
- Functional Magnetic Resonance Imaging (fMRI)
- The Future of Epilepsy Care
Utilizing SEEG, the ROSA robot, and NeuroPace in Epilepsy Treatment
Diagnosing and Evaluating the Modern Epilepsy Patient
Roberson wins prestigious Denny-Brown award from American Neurological Association
Written by Bob Shepard
Erik Roberson, M.D., Ph.D., associate professor in the Department of Neurology at the University of Alabama at Birmingham, is the winner of the 2015 Derek Denny-Brown Young Neurological Scholar Award from the American Neurological Association.
The award, considered the ANA’s highest and most prestigious, recognizes early- to mid-career neurologists and neuroscientists who have made outstanding basic and clinical scientific advances toward the prevention, diagnosis, treatment and cure of neurological diseases.
Roberson’s primary research focus is Alzheimer’s disease, in particular the role of tau reduction in protection against memory loss. Roberson and his colleagues were also the first to show that tau plays a critical role in regulating neuronal excitability, which could have applications in the treatment of many neurological conditions with seizures. He has also contributed new insights into mechanisms and therapeutic approaches to frontotemporal dementia.
Roberson graduated summa cum laude from Princeton University and completed his M.D./Ph.D. training at Baylor College of Medicine. He was chief resident in neurology at the University of California at San Francisco. He joined the faculty at UAB in 2008 with appointments to the departments of Neurology and Neurobiology. He holds the Spencer Endowed Professorship in Neuroscience. He is a co-director of the UAB Center for Neurodegeneration and Experimental Therapeutics and has recently been appointed co-director of the McKnight Brain Institute at UAB.
“Dr. Roberson is recognized nationally and internationally for his expertise in Alzheimer’s disease and related disorders,” said David Standaert, M.D., Ph.D., professor and chair of the UAB Department of Neurology. “I think Dr. Roberson is one of the leading neuroscientists of his generation. He is exceptionally bright, very well trained and, most importantly, fully committed to his goals.”