DNA and the Bearded Lady

Julia Pastrana, the most famous “Bearded Lady”, was a Mexican-born woman who exhibited herself in 19th-century Europe as part of a traveling circus, dancing and singing in clothes that showed off her hairy visage and limbs. At the time, she was considered a freak and no one knew why she was cursed with this hairy condition. It all comes down to DNA. As it turns out, Julia had Hypertrichosis Terminalis, or CGHT.

CGHT is a condition where excessive hair grows over and above the normal amount for the age, sex and race of the individual. It can develop all over the body or can be isolated to small patches. CGHT is an extremely rare but highly inheritable disorder.

Geneticist, Xue Zhang, of the Peking Union Medical College in Beijing, has set out to discover a cure, or at least a cause for this disease and has scoured China for cases he can research. His team found three affected families, including 16 afflicted members, who were willing to participate in a study.

Xue Zhang, and his research team, first conducted a genome-wide linkage scan in a large four-generation family which showed a genetic locus (location) for CGHT. Afterward, they conduced further studies on the genetic markers from the same chromosome region. (This confirmed genetic mapping previously performed.) They found that in every family a microdeletion (the loss of a tiny piece of a chromosome), within the critical region of the locus, was present in all affected individuals but was not present in unaffected family members. This research successfully and conclusively identifies CGHT as a genomic disorder. Now lets hope he can find a cure!