Professor Athena Andreadis
Athena Andreadis, Ph.D. is Associate Professor of Cell Biology,
University of Massachusetts Medical School,
Shriver Center at UMMS, and author of
To Seek Out New Life: The Biology of Star Trek.
Our genes define us as a species, but our neuronal synapses define us as individuals. Normal brain development is a complex process that requires the coordinated expression of many genes. Understanding this regulation is a prerequisite to elucidating the genetic causes of abnormal brain development. Athena examines alternative splicing, a gene regulatory mechanism vital for the proper functioning of the entire organism, and the nervous system in particular. Alternative splicing, which occurs in 30% of vertebrate genes, results in the production of multiple variants from a single gene and is a major contributor to proteomic complexity.
Her chosen model is the human tau gene, whose product is instrumental in the function of the axon (the information transmitter for each neuron). Via the process of alternative splicing, tau gives rise to multiple products that control axonal morphology and stability. Disturbances in tau splicing result in disruption of the axon and formation of pathological tau structures called neurofibrillary tangles. Dementia sufferers display these tangles which correlate with the severity of common developmental and degenerative neurological disorders (Alzheimer’s disease, progressive supranuclear palsy, Pick’s disease, corticobasal degeneration). The second most common dementia after Alzheimer’s, frontotemporal dementia with Parkinsonism, is directly caused by misregulations in tau alternative splicing. The disease is caused by wild-type proteins present in incorrect ratios a paradigm of a dosage error effect. Finally, tau also plays an important role in development: tau null mice display learning disabilities and muscle defects.
Athena’s popular science publications include Why Science Needs Science Fiction, We Must Love One Another or Die: A Critique of Star Wars, The String Cuts Deeper than the Blade, It’s All in Your Head, To Each His Own Gliese 581c, Genetic Engineering and Space Exploration, Iskander, Khan Tengri, Le Plus Ça Change, Making Aliens Part 1: Why Go at All?, Making Aliens Part 2: The Journey, Making Aliens Part 3: The Landing, Making Aliens Part 4: Playing God Part I, Making Aliens Part 5: Playing God Part II, and Making Aliens Part 6: The Descendants.
Her scientific publications include Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17, Structure and novel exons of the human tau. gene, Alternative Splicing: A Ubiquitous Mechanism for the Generation of Multiple Protein Isoforms from Single Genes, A retinoic acid synthesizing enzyme in ventral retina and telencephalon of the embryonic mouse, and Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12–21. Read the full list of her scientific publications.
Athena earned her BA (magna cum laude) from Harvard University in 1977 and her Ph.D. in Molecular Biology from the Massachusetts Institute of Technology in 1984. Read her LinkedIn profile. Read her blog Starship Reckless.