New Genetic Model for Human Disease Proposed

Based on a wide variety of genetic studies and analysis - four Houston leaders in the field of genetics have proposed a unified genetic model for human disease.
"What emerges is a unified picture whereby previously distinct entities or categories of human diseases, chromosomal syndromes, genomic disorders, Mendelian disease, and multifactorial or complex traits, can now be considered as part of one continuum whereby common and rare variants including de novo (new) mutations in the context of environmental influences result in perturbation of the biological balance of a restricted set of networks activating final common pathways that ultimately cause disease," the authors wrote in an article that appears in the current issue of the journal Cell.
The authors include Dr. James Lupski, vice chair of molecular and human genetics at Baylor College of Medicine; Dr. Richard Gibbs, director of the Dr. John Belmont, professor of molecular and human genetics at BCM, and Dr. Eric Boerwinkle, professor and director of the division of epidemiology at The University of Texas School of Public Health at Houston.
In other words, all kinds of genetic variation – changes in single genes (single nucleotide polymorphisms or SNPs), deletions or duplications of a large part of chromosomes (copy number variation), rare genetic variants, common variants – all play a role in a person's biologic continuum, health and risk of disease, said Lupski, also a professor of pediatrics.