Brazilian researchers have concluded the largest genetic database of elderly people in Latin America, with which they hope to identify the mutations responsible for various diseases and increase the accuracy of medicine, it was announced on Wednesday.
The study will also estimate the incidence of genetic variations in the Brazilian population and find variants that may be decisive for healthy aging, among other applications, as explained in a note published this Wednesday by São Paulo Research Foundation (Fapesp).
The research, the results of which have been published on the BioRxiv portal and not yet reviewed by other researchers, was conducted by scientists from the University of São Paulo (USP), who sequenced the complete genome of 1,171 elderly residents. in the state of São Paulo.
It is the largest DNA bank for the elderly in Latin America and a highly mixed population like Brazil, the result of work started over 10 years ago, ”said Mayana Zatz, one of the authors of the research cited by Fapesp.
“The elderly were chosen as the target population for genome sequencing because they are already past the age of onset of a range of diseases that occur in old age, such as Alzheimer’s and Parkinson’s, among others,” added the searcher.
Throughout the investigation, more than 76 million genetic variations have been found, of which two million are unpublished, that is, they have not yet been cataloged in genomic banks in other countries. , where data from European populations predominate.
For researchers, the high number of new variants found indicates the high rate of interbreeding in Brazil, which has a population of around 211 million and where a higher incidence of European, African, indigenous and Asian ancestors. from the east has been identified.
Likewise, the result revealed the “lack of diversity” in international gene banks, which can make it difficult to diagnose and treat genetic diseases in people of non-European descent.
The excessive number of undescribed variants “reaffirms the importance of sequencing the genome of Brazilians, in particular to reduce asymmetries of representativeness in international genomic banks”, declared Michel Naslavsky, principal investigator of the study.
For the scientist, the data compiled can contribute to the diagnosis of rare diseases through genetic tests and, in the future, help personalized treatments according to the genetic profile of each patient.
In addition to their importance in precision medicine, these findings may demonstrate that whole genome sequencing can aid in the development of public health policies, ”Naslavsky concluded.