Neurodevelopmental Research Unit
The Neurodevelopmental Research Lab focuses on a variety of brain disorders, which specifically affect children because the diseases present early in life. These disorders include mitochondrialopathies, Down's syndrome, neural tube defects, mental retardation syndromes, pediatric neurodegenerative disorders, and others. The goal is to use TGen's repertoire of techniques to rapidly offer diagnoses to families afflicted with these disorders to the have an expert early intervention made possible. The second is to understand and more effectively treat these diseases. TGen has partnered with St. Joseph's Hospital and the Barrow Neurological Institute to form the Pediatric Neurogenetics Clinic. The Clinic is staffed with expert physicians, scientists, genetic counselors, dieticians, and educators, and coupled with TGen research laboratories is among the best facilities nationally for diagnosing and treating this class of devastating disorders.
Current Projects:
The Pediatric Neurogenetics Clinic
Recent advances in molecular genetics have caused an explosion of gene mutations being discovered for single gene disorders. Since the nervous system is one of the most complex systems in the body, it is no surprise that there are hundreds, if not thousands of genes being associated with neurological disease. While some of these conditions are caused by changes in single genes, others are being associated with changes in multiple genes.
St. Joseph’s Hospital and Medical Center and TGen have joined together to start a Neurogenetics clinic that sees individuals and families with both single gene and polygenic disorders. Conditions that are evaluated include Rett syndrome, mitochondrial disorders, leukodystrophies, gray matter degenerations, lysosomal storage diseases, peroxisomal diseases, and undiagnosed familial neurological disorders. TGen will look for possible gene changes in samples from participating individuals and families using a variety of molecular techniques including family linkage, sequencing, genotyping and gene expression profiling.
Staff:
Matthew Huentelman, Ph.D., Investigator
April Allen, B.S., Research Associate II
Jason Corneveaux, B.S., Research Associate
Jeremy Pruzin, Research Associate
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