Gene Discovery: The Giant First Step Toward Therapy

After a grueling search, the gene causing a disorder is identified. Now what? While hope for rapid development of a cure fixes itself in the public's mind, in the scientific sector, discovery of a health-related gene catalyzes a frenzy of research activity, geneticists say. The first steps following gene discovery have become somewhat routine: completing sequencing of the gene, matching the sequence to a known protein pattern (if possible), deciphering gene expression through tissue and ti

Ricki Lewis
Jun 27, 1993
After a grueling search, the gene causing a disorder is identified. Now what? While hope for rapid development of a cure fixes itself in the public's mind, in the scientific sector, discovery of a health-related gene catalyzes a frenzy of research activity, geneticists say.

The first steps following gene discovery have become somewhat routine: completing sequencing of the gene, matching the sequence to a known protein pattern (if possible), deciphering gene expression through tissue and time, and finding new mutations. Then, the direction of research branches. Many geneticists working with newly discovered genes are looking to developments in cystic fibrosis (CF) research for guidance. Consider a sampling of current CF research efforts:

To Screen Or Not To Screen
At Imperial College in London, geneticist Robert Williamson is evaluating the advisability of screening the general population for CF carriers (R. Williamson, Nature Genetics, 3:195, 1993). In the United States, the American...

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