Few geneticists in the Island

This article is reproduced by CienciaPR with permission from the original source.

By Carmen Arroyo / carroyo@elenuevodia.com endi.com Puerto Rico has only four geneticists and one advisor in this area, a very limited amount of professionals for a country with high statistics of genetic disorders. Metabolic disorders, according to Diana Valencia, the only genetic advisor in Puerto Rico, are the most common in the Country. Metabolic disorders are the intolerance to certain foods or their components. Valencia indicated that in opposition to which many people think about the Island, and in spite of the limited amount of professionals in this area, they offer quality services for these conditions. However, the parents of children with genetic disorders do not know where to find them. Valencia works with the Department of Health (DS) in the area of birth defects prevention and with the Association of Children and Adults with Genetic Disorders of Puerto Rico (ANADGMPR) that recently celebrated their sixth congress on these conditions in the Arecibo campus of the University of Puerto Rico. Ivette Ramos Pacheco, nutritionist of the “Genetic Diagnostic Group” of San Jorge Children’s Hospital explained that the mitocondrial diseases and enzymatic deficiencies are the most common in Puerto Rico. The amount of brain damage caused by metabolic disorders will exposure time of the children to the food that its body cannot tolerate. These conditions, according to Ramos Pacheco, have always existed, but the were diagnosed as cerebral palsy or mental retardation. Children with these metabolic disorders display language and learning problems. That is why they are confused with other conditions, said Ramos Pacheco. Another one of the most common disorders in Puerto Rico is it the Jarcho-Levin syndrome, which is a disorder in the formation of the spinal bones. According to the geneticist Alberto Santiago Cornier, the Island occupies the first place in cases reported with this condition. Santiago Cornier works in the San Juan Bautista School of Medicine in Caguas and for eight years he has been investigating this condition. He was another of the speakers invited to the congress on genetic disorders that the ANADGMPR organized to orient to doctors and health professionals on the different genetic conditions. “It is important that health professionals know genetics and know at first hand because they are the ones who are going to have the first contact with the patient”, said Santiago Cornier to El Nuevo Dia. He added that “genetics is going to turn around the future of preventive medicine in a not very distant future”. Also, Santiago Cornier said that “most of the genetic and metabolic disorders can be treated, and yield happy and productive individuals to the society”.