Researchers puzzled by eccentric cluster of genetic abnormality.
The tiny town of Ricuarte, nestled within the mists of the Colombian Andes, is largely known for two things. It has tremendous papaya fields that support many of its inhabitants, and it also the largest known cluster of Fragile X Syndrome in the world. In Colombia, the town has long been known as the home of los bobos — after a popular novel and TV series that depicted a family similar to many found in Ricuarte — yet nobody seems to know why.
There have been a number of theories floated over the years, ridiculous and otherwise. Protestant missionaries once warned that God had brought “the foolishness” upon the town due to the residents’ fondness for Catholic religious icons. A popular wives’ tale suggested that the illness was the result of a love potion made by the women of Ricuarte that occasionally goes awry.
To this day, men are still warned not to ever accept a drink from a woman in the region. Other theories focus on the effects of pesticides from the papaya and sugarcane fields that sprawl throughout the area, or nearby magnesium mines that may have polluted the groundwater.
One man has made it his life’s work to find answers, as told by a recent article in Science. Wilmar Saldarriaga-Gil, a medical geneticist from the University of Valle, first became interested in the town’s inhabitants as a child in the 1980s. As Saldarriaga-Gil grew to be a man and worked his way through medical school, he remained curious about the mystery surrounding Ricuarte. Over time, his interest became his profession, and Saldarriaga-Gil has now spent years studying the Fragile X population of Ricuarte. His work as a doctor and researcher has become inextricably tied to his humanitarian work as he searches for both answers and treatments for the impoverished residents.
Fragile X is a condition caused by mutations in a gene called FMR1 on the X-chromosome. It is the leading cause of inherited intellectual disability worldwide. Typically it affects 1-in-2,000 men and 1-in-4,000 women. Genetic variability, such as mosaicism, and differences in how FMRP reacts with a wide range of proteins create a range of expression for Fragile X, which makes both identification and treatment difficult.
Ricuarte is an ideal place to study the condition. The Fragile X population there is 1-in-20, so there is a relatively large pool of patients to study. Furthermore, the similar environment and genetic background of the patients provides certain controls that are beneficial to the study. Fragile X’s ties to autism and other genetic disorders means that Ricuarte’s population could provide the key to treatments for a broad range of afflictions.
Not that the residents of Ricuarte would benefit much. Even if a cure or treatment for Fragile X was developed due to Saldarriaga-Gil’s research, the residents of this tiny, impoverished Colombian town would be among the last to receive it. Many of the residents of Ricuarte live on less than $10 a day, and Colombia’s medical resources are stretched far too thin as it is.
Ricuarte’s loss could be the world’s loss as well, as many residents who are carriers for Fragile X have chosen to not have children. Over the past 10 years, only three children with Fragile X have been born in Ricuarte. Many of the town’s 58 carriers of the disorder are over 50 now. The population of the world’s epicenter for Fragile X and other key genetic research is aging and may soon be lost.
The problem is, with the exception of one erstwhile, driven researcher, nobody has noticed.
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