February 12, 2001By compiling and categorizing 923 genes that malfunction in inherited diseases, Howard Hughes Medical Institute (HHMI) researchers have discerned patterns that indicate that this approach might be a powerful new tool for understanding genetic contributions to human diseases.

Future analyses of newly discovered human disease genes revealed through the human genome sequencing projects, say the scientists, will give rise to new approaches to understanding and treating disease based on fundamental principles.

The results of the survey were published in the journal Nature on February 12, 2001, by HHMI investigator David L. Valle and colleagues Gerardo Jimenez-Sanchez and Barton Childs at The Johns Hopkins University School of Medicine. The article is part of a collection of articles published by Nature that discusses the implications of sequencing the human genome.

"Most of us who have studied genetic disease have focused on one particular disease, or perhaps a small set of related diseases," said Valle. "However, this is a classic example of stepping back to take a look at the forest instead of specific trees. We decided to collect a list of disease genes, to correlate those genes with various aspects of the disease and see if we could begin to discern general patterns."

The scientists began by assembling a list of 923 genes that caused inherited disease, drawing the list from the seventh edition of Metabolic and Molecular Bases of Inherited Diseases and from the Online Mendelian Inheritance in Man database. Next, they categorized each disease gene based on the function of its protein product. This strategy yielded four major categories: genes that encode enzymes; genes that encode proteins that influence the function of a second proteinfor example, stabilizing, activating or folding another protein; genes that en
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Contact: Jim Keeley
keeleyj@hhmi.org
301-215-8858
Howard Hughes Medical Institute
11-Feb-2001