Dr. Hsiao-Tuan Chao, MD PhD, medical resident of pediatric neurology and Dr. Laurie Robak, clinical instructor at the Baylor College of Medicine and researchers at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital were selected to receive prestigious scholarship grants from the American Academy of Neurology to support studies on neurodevelopmental and neurodegenerative diseases.
The American Academy of Neurology is the world's largest association of neurologists and neuroscience professionals, with 32,000 members. The AAN is dedicated to promoting the highest quality patient-centered neurologic care. A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as autism spectrum disorder, intellectual disability, Alzheimer's disease, stroke, migraine, multiple sclerosis, concussion, Parkinson's disease and epilepsy.
This year AAN's research program awarded nearly $3 million dollars toward neuroscience research and training. This was the first year AAN awarded a basic or translational neuroscience-focused research training scholarship. Twenty award winners, including Drs. Chao and Robak, were recognized at the 69th Annual Meeting of American Academy of Neurology (AAN), the world's largest association of neurologists held in Boston from April 22 to 28, 2017.
Dr. Chao, a postdoctoral associate in the laboratory of Dr. Hugo J. Bellen was awarded the 2017 Neurology Research Training Scholarship by the American Academy of Neurology for her research proposal titled, "Transcriptional Dysregulation of Neural Circuits in Neurodevelopmental Disorders."
"Recently, we discovered in unrelated children with a newly described syndrome the same mis-spelling in the gene EBF3, a master regulator that controls the expression of many other genes. These children have difficulties with learning, are slow to walk, and have poor balance. They also show some features seen in autism, including difficulties with speaking and repeated movements. Many different childhood neurologic diseases share similar features, suggesting that despite different causes there may be common ways in how brain function is disrupted. Studying one genetic disease in greater detail also allows us to learn about other similar diseases and the basic biology of brain function," said Dr. Chao.
The proposed research will use the laboratory fruit fly and mouse to explore how changing the function of master regulators of gene expression, like EBF3, cause childhood neurologic diseases. The discoveries from this research will provide some answers and improve the quality of life for many of these children and their families.
Dr. Robak is a postdoctoral fellow in the laboratory of Dr. Joshua Shulman. She was awarded the 2017 Clinical Research Training Fellowship in Parkinson's Disease for her proposal titled, "Elucidating Genetic Links Between Lysosomal Storage Disorders and Parkinson's Disease."
"Parkinson's disease (PD) is a progressive incurable neurodegenerative disorder present in one percent of the population over age 65. There are emerging links between lysosomal storage disorders (LSDs) and complex adult neurodegenerative diseases, including PD. To further understand the relationship between PD and LSDs, I propose to blend population and family-based strategies, combining cutting-edge data in a large PD case/control cohort with a systematic neurologic evaluation of mutation carriers in pedigrees affected by LSDs. Identifying LSD genes as PD risk factors will lead to improved diagnosis and risk assessment as well as development of novel therapeutic strategies," said Dr. Robak.