Russell
J. Buono, Ph.D.
Chief, Research and Development
Veteran's Affairs Medical Center - Coatesville
1400 Black Horse Hill Road, Bldg 11- Rm 112
Coatesville, PA 19320
voice 610 384 7711 x4271
FAX 610 380 4328
email Russell.Buono@va.gov
Click here for selected publications since Dr. Buono's arrival at Penn
RESEARCH INTERESTS
Genetics of complex neurologic and psychiatric disease; (2) oxygen controlled gene regulation.
RESEARCH TECHNIQUES
Human and mouse genetic studies, linkage and association analyses, statistical genetics, generation of transgenic and congenic animals, SNP and microsatellite marker genotyping, DNA sequence and bioinformatics analyses, expression analyses of mRNA and proteins, tissue culture, histology and microscopy.
RESEARCH SUMMARY
Our laboratories are attempting to identify susceptibility genes in humans that predispose individuals to common neurologic and psychiatric illness. Several projects focus on elucidating the molecular genetics of CNS disorders that exhibit complex inheritance patterns including epilepsy, biploar disorder, and substance abuse. These projects involve both animal and human studies in which genetic linkage is used to identify chromosomal regions that harbor susceptibility genes. Candidate genes are then isolated and characterized to identify variations that act as susceptibility factors. We then attempt to understand the biological significance of identified variants using both in vitro and in vivo model systems.
A second area of interest is centered on studies of oxidative metabolism in the central nervous system. These studies focus on oxygen controlled gene expression in the vertebrate retina as a model for investigations into the causes of diabetic retinopathy and ischemic damage in the CNS.
KEY WORDS:
Key Words: Genetics, epilepsy, bipolar disorder, substance abuse, retina, oxidative metabolism, transcriptional regulation.
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