| National Cancer Institute | Laboratory of Receptor Biology and Gene Expression | National Institutes of Health |
More than 50% of human genes are alternatively spliced. Alternative and aberrant contributes significantly to human disease. Diseases in which aberrant splicing is a major factor include b-thalassemia, cystic fibrosis, spinal muscular atrophy, FTDP-17 and various cancers. We are using molecular and imaging methods to study the molecular mechanisms of alternative splicing, the investigation of physiological effects of switching of alternative splicing patterns and as potential therapeutic agents.