SANTA LUCÍA MILPAS ALTAS, Guatemala, Jun 27 2012 (IPS) – Cases like that of a little boy with an undetected metabolic disorder whose parents sold everything they owned to cover the costs of medical treatment that was ineffective prompted a doctor to create a vanguard institute of human genetics in Guatemala.
“A couple from a rural village, who longed to have children but were never able to, one day found outside their shop a box with a baby in it and a message asking them to take care of him because his parents couldn’t support him,” the director of the new institute, Gabriel Silva, told IPS.
They were happy to adopt him. But at the age of five, he had his first seizure. “His adoptive parents went to a private health centre, to pay for the first treatment. His illness continued, and they rushed to the hospital with him every time, until they ended up selling their shop and their house” to cover the costs, Silva said.
By the time they reached Silva’s clinic, the boy was disabled. “When I saw him, from the way he smelled, I deduced that it was a metabolic disorder,” he said. A test he carried out with the assistance of a biochemist in Germany confirmed his diagnosis, and treatment involving medication and a special diet solved the problem.
“The last day I was at the clinic, the father came with his son, who had already learned how to ride a bike, to thank me,” he said.
Silva was deeply affected by this case and many others while working as a pediatrician for 15 years in the northwestern province of Chimaltenango, where most of the population is made up of Maya Indians.
His passion for genetics and his zeal for helping people led him to specialise in genetics at Baylor University in Texas, and to found the Institute of Research in Human Genetics (IVEGEM) in 2010.
The institute, located in Santa Lucía Milpas Altas, a town in the highlands near the city of Antigua and 30 km from the capital, focuses its research on the genetic disorders that are most commonly seen in Guatemala and the rest of Latin America, and also offers services to rural communities.
The project was made possible with support from the private Rozas Botrán Foundation, the U.S. non-governmental organisation Faith in Practice, and other sources.
IVEGEM, which operates in a modern building that combines science and art, also gives a course in molecular biology to train its team of Guatemalan professionals who specialise in biology, chemistry and pediatrics, as well as students from other universities.
Claudia Carranza, who has a doctorate in molecular and cellular biology from the University of Navarra in Spain, told IPS that she is currently working on two projects with leukaemia patients in public hospitals under an agreement with the National Council of Science and Technology, a government body.
In the case of acute lymphoblastic leukaemia, “we see genetic markers that help with the prognosis. In Guatemala in the past, when a child had leukaemia, they started to treat him with one kind of chemotherapy and then another and another, and when he was completely exhausted and weak, they told (his family) that he needed a bone marrow transplant,” she said.
“This study indicates from the very start whether a bone marrow transplant is needed, or whether aggressive or mild chemotherapy is needed. This is better for patients, because they are given the right treatment in line with the prognosis,” she explained.
She said they also work with people with chronic myeloid leukaemia, who are given medication and subject to gene expression monitoring every three months, to follow the progression of the disease.
Carranza said that in the past, these tests had to be done in the United States, at a steep cost. But now even other countries of Central America can use the institute’s “high quality and lower cost” services, she said.
“We are going to work with the Salvadoran Social Security Institute and we will possibly work with Honduras, southern Mexico, Belize and the Dominican Republic,” she said.
Lack of access to healthcare is a serious problem in rural areas in this Central American country of 14 million people where 54 percent of the population lives in poverty and 13 percent in extreme poverty, according to the 2011 national living conditions survey.
Against that backdrop, research in health is especially important.
Nonsyndromic deafness, muscular dystrophy in children, and the human papillomavirus, associated with cervical cancer are also the focus of research at the institute, which aims to come up with the most effective treatment for patients in Guatemala.
“The idea is to study each illness to design specific treatment adapted to the needs of the population without basing ourselves on studies from other countries which have different cultures, diets, social status, and, surely, genetic factors,” Carranza said.
PLoSs Genetics and The American Journal of Human Genetics are two of the publications that have published the institute’s studies, which have also been presented in Switzerland, Spain, Costa Rica and Argentina.
IVEGEM has also signed international conventions on technology transfer and scientific information sharing with Baylor University and the University of Navarra, the University Children s Hospital in Zurich, Switzerland, and the Munich University Children s Hospital in Germany.
Silva said one of the most ambitious projects is the study of congenital metabolic disorders, starting in newborns, “because the objective is prevention of disabilities caused by nutritional or metabolic disorders.”
“Sometimes the person lacks the equipment needed to break down amino acids. For example, if they drink milk or eat something that has that particular amino acid, the more they consume, the more they will be intoxicated, and that gradually causes brain damage,” he said.
Silva hopes that within five years, the 464,000 babies born every year in Guatemala will receive neonatal screening to detect congenital defects to prevent mental retardation or paralysis by means of diet or medication.
The research is only one part of the institute’s strategy for growth.
“We are developing a molecular biology course with university backing, which currently has 48 students who can put that knowledge to work in their jobs, and we hope to build a science university in two or three years,” he said.
The institute’s researchers are extremely dedicated to the work they are doing.
Allan Urbizo, a biologist, said it is a privilege to work in IVEGEM. I often talk to the parents of children who have heart defects, and they tell me ‘What wouldn’t I give so that no parent would have to feel what I am feeling now?’ My biggest dream would be to prevent all that suffering,” he told IPS.
“We have received a great deal of support; doctors are sending us more tests, which means they are useful in order for the doctors to give their patients a good diagnosis and good treatment,” said Dámaris Tintí, a chemical biologist.
