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Research Author: Staff Editor Last Updated: Feb 25, 2014 - 9:05:30 PM



MIND Institute launches 'Colombia Project of Hope'

By Staff Editor
Feb 25, 2014 - 9:02:36 PM



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(HealthNewsDigest.com) - SACRAMENTO, Calif. - Researchers at the internationally respected UC Davis MIND Institute are collaborating with scientists at two Colombian universities to investigate the very high rate of fragile X-related disorders in one region in the South American country.

Named the "Colombia Project of Hope," the initiative aims to advance fragile X research and benefit individuals with fragile X-related disorders in the United States and around the world by focusing on a recently identified fragile X "hotspot" in Colombia.

In November 2013, fragile X researchers led by internationally known fragile X investigator and MIND Institute Medical Director Randi Hagerman, visited the Valle del Cauca District and the small town of Ricaurte, which for years has been known to have a very high prevalence of individuals with intellectual disability, formerly termed mental retardation.

"Our goal is to advance fragile X research worldwide by turning Ricaurte from a village of despair to a village of hope with new treatments for fragile X syndrome and related disorders," Hagerman said.

Hagerman and her team screened many of Ricaurte's residents, using a diagnostic test developed by Flora Tassone, UC Davis professor of biochemistry and molecular medicine. Conducted in partnership with the Colombian scientists, the testing found a very high incidence of fragile-X related mutations among the population - the reason for the region's high levels of intellectual disability and the solution to a decades-old medical mystery.

The term "fragile X" is used to describe the altered appearance of the X chromosome among sufferers from the constellation of conditions associated with defects in a gene called FMR1.  The defect causes disorders such as  fragile X syndrome, the leading cause of intellectual disability and the leading known single-gene cause of autism, and a Parkinson's disease-like condition in adults called fragile X-associated tremor/ataxia syndrome, or FXTAS. The U.S. Centers for Disease Control and Prevention (CDC) estimates that about 1 in 4,000 males and 1 in 6,000 to 8,000 females in the United States have fragile X syndrome.

After determining the high incidence of fragile X disorders in and around Ricaurte, the MIND Institute investigators determined that researching this fragile X hotspot could offer additional clues to the development of fragile X and its incidence in other populations around the world. They determined to approach the initiative through collaborating with their colleagues at research institutions in Bogota and Medellín. The Colombia Project of Hope was born. The project's aims are to:

Screen for fragile X mutations in larger populations in Colombia to determine the prevalence of fragile X syndrome in Ricaurte and throughout the country
Initiate outreach programs addressing treatments from the medical, educational and family viewpoints for those who test positive
Educate physicians, therapists and health-care providers throughout Colombia about fragile X syndrome, premutation involvement, autism and related neurodevelopmental disorders to increase the pool of potential fragile X research subjects

The partnership includes the MIND Institute clinicians and researchers who visited Colombia and their in-country collaborators, as well as Sergio Villada, president of the Special Kids Foundation in Miami, who organized the first Colombia visit in November 2013, spearheading establishment of the Asociación X Frágil Colombia.

UC Davis team members joining Villada in his efforts include:

Randi J. Hagerman, MIND Institute medical director
Sergio Aguilar-Gaxiola, director, Center for Reducing Health Disparities
Louise Gane, genetics associate
Reymundo Lozano, professor of pediatric genetics
Flora Tassone, professor, biochemistry and molecular medicine
Luis Carvajal, professor, biochemistry and molecular medicine
Robert Miller, fragile X advocate
María Díez-Juan, MIND Institute APPs study coordinator

The UC Davis MIND Institute in Sacramento, Calif., was founded in 1998 as a unique interdisciplinary research center where families, community leaders, researchers, clinicians and volunteers work together toward a common goal: researching causes, treatments and eventual preventions and cures for neurodevelopmental disorders. The institute has major research efforts in autism, fragile X syndrome, chromosome 22q11.2 deletion syndrome, attention-deficit/hyperactivity disorder (ADHD) and Down syndrome. More information about the institute and its Distinguished Lecturer Series, including previous presentations in this series, is available on the Web athttp://mindinstitute.ucdavis.edu.
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