Dr. Gonzalez-Alegre's long-range research goal is to advance the application of precision medicine in the neurology clinic. His research focus revolves around genetic disorders that affect the brain, spanning from the diagnosis of novel genetic disease in the clinic to the identification of novel molecular targets using disease models and the design of early-phase human clinical trials.
Dr. McCormack investigates the intersection of neuroendocrinology and metabolism. Her translational research program involves two areas. The first involves studying those with genetic disorders, including primary mitochondrial diseases and Friedreich's ataxia, with characterized risk for diabetes mellitus. Second, Dr. McCormack focuses on brain disorders associated with excess weight gain, including brain tumor-related hypothalamic obesity syndrome and idiopathic intracranial hypertension.
Dr. Akizu's research focuses on cerebellar ataxias and motoneuron disorders, with the specific goals of uncovering the particularities of these neuronal types, understanding disease mechanisms, and exploring treatment options.
Dr. Davidson works to understand the molecular basis of childhood onset neurodegenerative diseases and the development of gene and small molecule therapies for treatment. She also focuses on how noncoding RNAs participate in neural development and neurodegenerative disease processes, and how they can be harnessed for therapies.
Research in the Akizu Lab aims to better understand human brain complexity in health and disease, with the ultimate goal of uncovering therapeutic targets for pediatric neurodegenerative disorders. Current research in the lab is focused on cerebellar ataxias and motoneuron disorders, with the specific goals of uncovering the particularities of these neuronal types, better understanding disease mechanisms, and exploring treatment options.
The Gonzalez-Alegre Lab studies inherited genetic diseases of the nervous system, such as dystonia, Huntington’s disease, and inherited ataxias. The lab uses cellular and animal models as well as clinical observation to better understand the genetic causes and molecular mechanisms of these diseases, develop potential therapies, and assess the efficacy of these treatments.
Our research on childhood onset neurodegenerative diseases is focused on experiments to better understand the biochemistry and cell biology of proteins deficient in these disorders, and to develop small molecule or gene therapy based strategies for therapy. In recent work, we demonstrated that the application of recombinant viral vectors to various models of storage disease reversed CNS deficits and improved life span. We continue to develop novel vector systems to improve therapeutic outcomes.
A blizzard of research happenings and news — from initiatives that are pushing precision medicine forward to a new way of thinking about how cancer progresses — appear in the January issue of Bench to Bedside.