research for rare brain disorders

Dr. Juan Pascual receives two major grants for rare brain disease research

DALLAS - December 6, 2011 - Dr. Juan Pascual, assistant professor of neurology and neurotherapeutics, physiology and pediatrics, has received two major grants that will fund initiatives at UT Southwestern aimed at forwarding research into rare brain diseases in adults and children.
A grant from the National Institutes of Health provides three more years of support for UT Southwestern's collaboration with Columbia University and an array of other networked institutions on rare brain diseases research.
UT Southwestern is part of the North American Mitochondrial Disease Consortium (NAMDC). It was established via the U54 NIH funding mechanism to create a network of clinicians and clinical investigators in North America who follow sizeable numbers of patients with mitochondrial diseases and are involved or interested in mitochondrial research.
Dr. Juan Pascual
Dr. Juan Pascual (R) talks with researcher Min Li, M.D.
The NAMDC has already created a clinical registry for patients in the hopes of standardizing diagnostic criteria, collecting important standardized information on patients, and facilitating the participation of patients in research on mitochondrial diseases. UT Southwestern investigators include Juan M. Pascual, MD, PhD,  Ronald Haller, MDCraig Malloy, MD and Levi B. Good, PhD. Dr. Pascual is director and principal investigator for the Rare Brain Disorders Clinic and Laboratory at UT Southwestern. He will direct NAMDC Pilot Project 1: "NMR observation of muscle and brain oxidative metabolism."
The grant will enable researchers to use, for the first time, 1H and 13C nuclear magnetic resonance (NMR) at 7T to directly (in vivo and in situ) interrogate metabolism in muscle and brain of patients afflicted by mitochondrial diseases.  Until now, mitochondrial disease research has been constrained by the 'snap-frozen,' outdated view offered by biopsies, blood tests and radiological studies that are far removed from the tissues or from the very metabolism that mitochondrial diseases impact.

"NMR offers access to an unprecedented amount of metabolic information of very high quality right where the disease takes place, without subjecting patients to invasive procedures or radiation.We are also eager to apply these methods to the clinic population we serve, which is one of the largest mitochondrial patient groups anywhere."

Dr. Juan Pascual
Dr. Pascual has special clinical research expertise in glucose metabolism, mitochondrial and unusual degenerative and multi-organ disorders. As one of only a few pediatric neurologists in the nation who is also a laboratory scientist and an adult neurologist, Dr. Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance (NMR) both in human subjects and in models of human diseases.
CETT Grant
UT Southwestern, in partnership with Children’s Medical Center and The Child Brain Foundation, has also been designated the Collaboration, Education and Test Translation (CETT) site for Glucose Transporter Type I deficiency, a disorder of brain glucose metabolism that can manifest as epilepsy, movement disorders or anemia with onset in childhood. 
Dr. Juan Pascual
CETT is an initiative of the National Institutes of Health Office of Rare Diseases Research. This grant helps fund the program designed to create and implement new genetic tests for the disorder.  Dr. Pascual is the principal investigator of the CETT program.
Under this program, a genetic test traditionally used for the diagnosis of a disorder only by a research laboratory on a research basis, in this case, Dr. Pascual’s laboratory, will be translated into a broadly available test by an accredited clinical laboratory -- Children’s Medical Center advanced diagnostics laboratory, directed by Dr. Jason Park.  The program also includes a collaborative partnership with a clinic where patients can be cared for (The Rare Brain Disorders Clinic, directed by Dr. Pascual) and with a non-profit 503(c)1 advocacy organization (The Child Brain Foundation), tasked with the development and dissemination of educational materials and other disease-related resources.
This is one of the most relevant and competitive translational programs ever developed in the rare diseases community.
Dr. Juan Pascual
"At long last, we are able to work side-by-side with partners that add new dimensions to the care of these patients that no single lab or institution has ever been in a position to leverage. We are very excited to combine research laboratory, clinical laboratory, clinic and community resources in this unprecedented and high-impact initiative focused not solely on providing a better, more efficient diagnosis to these patients, but also on better medical care and patient and family education. I am also very grateful to Children’s Medical Center and to The Child Brain Foundation for embracing this project without hesitation."
The Rare Brain Disorders Clinic and Laboratory provides a unique mix of comprehensive clinical care, research, and education, focused exclusively on rare neurological disorders. The clinic treats about 400 pediatric and adult patients from around the world each year. For many, their visit marks the first time they receive an accurate diagnosis of their condition.  The clinic unites and supports neurologists, geneticists, pediatricians, and other professionals as they diagnose and treat patients. Almost all patients return to the clinic periodically throughout their lives, regardless of where they live or their socioeconomic status.


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