This was reported by the Costa Rican Social Security Fund (CCSS) as part of Rare Disease Day, which is commemorated every February 28.
According to the institution, this work has made it possible to provide more accurate diagnoses to people who for years lived without knowing the origin of their symptoms.
“We have managed to provide many patients who previously did not have a confirmed diagnosis with an accurate diagnosis today, what we call a diagnosis with a name and surname,” explained Fernando Morales, internist and coordinator of the clinic.
Since its opening in 2014, the specialized unit has treated approximately 700 patients from all over the country.
Of the total number of cases, approximately 55% are women and 45% are men, ranging in age from 12 to 92 years old.
In addition, diagnoses are supported by genetic studies conducted with the backing of the Molecular Genetics laboratories and the National Neonatal Screening Program of the National Children’s Hospital.
Genetic diagnosis
According to specialists from the medical team, monitoring patients has allowed them to identify around 21 genetic syndromes, some of which are possibly unique in Costa Rica.
“In this cohort of patients, we observed practically all types of changes described in human genetics. From variants involving the change of a single ‘letter’ to the loss of entire ‘sentences’ in the book of life,” explained Tanya Lobo, a genetic biologist at the clinic.
Among the most frequently detected diseases are:
• Storage diseases
• Collagenopathies
All of these conditions require specialized medical follow-up and timely diagnosis.
For specialists, clearly identifying these pathologies makes it possible to prevent complications, better target treatments, and strengthen medical research.
