Foundation of Genetic Research and Alopecia Areata

In the 1990’s, the scientific community as a whole made great strides in being able to answer questions about genetics. The Human Genome Project at the National Institutes of Health brought us access to a wealth of information. And there were tremendous advances in looking at single-gene disorders like cystic fibrosis. In single-gene disorders whoever gets the gene also gets the disease.

But alopecia areata is a polygenic disease, that is, it involves multiple genes and is therefore very complex. It is a bit like the many shades of gray; different genes in different combinations all play a role in this disease and researchers are working to untangle the web of these genetic relationships. This is much harder than looking at single genes. Prior to the completion of the Human Genome Project we were not even able to look at five or more genes in combination. The Human Genome Project and new gene technology has given geneticists the tools to step back and look globally at all the genes and identify hot spots.

As a result, the research studies that are now being designed for alopecia areata are focusing on large families, or what are called multiplex pedigrees, in which three or more people all have symptoms of alopecia areata. In preliminary studies we have found that alopecia areata has genes in common with other autoimmune diseases including psoriasis and arthritis.

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