Studies carried out at Unicamp are able to identify better treatments for diseases such as epilepsy, stroke and amyotrophic lateral sclerosis
Research developed by ENIGMA international consortium analyzed the brains of more than 3,8 volunteers from different countries with the aim of discovering differences and similarities between brain anatomy and different types of epilepsy. The objective is to look for markers that help with prognosis and treatment.
Another group of researchers seeks, based on the analysis of the levels of two micro-RNAs in patients, genetic markers that serve as indicators of amyotrophic lateral sclerosis (ALS) – disease that killed British physicist Stephen Hawking.
A third study, also on epilepsy, suggests that deregulation in the NEUROG2 gene it would be related to the emergence of focal cortical dysplasia – a brain malformation that is one of the most common causes of drug-refractory epilepsy. By identifying this biomarker, it will be possible to indicate different treatments for drug-resistant epileptic patients, such as surgery, for example.
The three studies include the participation of researchers from the Institute for Research on Neurosciences and Neurotechnology (BRAINN), a Research, Innovation and Dissemination Center (CEPID) from FAPESP based at the State University of Campinas (Unicamp).
“Our goal is to develop new methods and techniques to improve knowledge about treatment and prevention of debilitating diseases and conditions that affect the brain, such as epilepsy and stroke. We are also interested in studying diseases that cause dementia or motor problems, such as amyotrophic lateral sclerosis (ALS),” he said. Iscia Cendes, main researcher at BRAINN, in a talk at FAPESP Week New York.
The meeting, which will take place at the City University of New York (CUNY) from November 26 to 28, 2018, brings together Brazilian and North American researchers with the aim of strengthening research partnerships.
“Human beings, like these diseases we are studying, are very complex. Therefore, we believe that being part of consortia and partnerships is the best way to leverage new discoveries”, said Cendes.
The researcher states that since the creation of BRAINN, in 2013, the number of big data projects in neuroscience has increased. Examples of these projects include the BRAIN initiative in the United States, Human Brain Mapping in Europe, the Alzheimer's Disease Neuroimaging Initiative (ADNI), the International League Against Epilepsy (ILAE) and the ENIGMA consortium.
“The efforts of big data became the modus operandi of neuroscience, replacing hypothesis-based and smaller-scale science,” he said.
Not by chance, Cendes states that BRAINN's next projects include advancing longitudinal studies. “That’s one of our strengths as a group,” he said.
BIPMED
Another purpose of BRAINN is to bridge the gap between fundamental biological research and its clinical application. One of the vectors of this purpose is the Brazilian Initiative on Precision Medicine (BIPMed), an initiative created in 2015 by five Research, Innovation and Dissemination Centers (CEPIDs) financed by FAPESP.
“BIPMed’s first product was the creation of a database of genomes of healthy people and those with specific diseases. Currently, there are more than 900 genetic variants deposited in the database,” he said.
The database contains genomes linked to epileptic encephalopathies, craniofacial anomalies, breast cancer, hereditary deafness, neurofibromatosis and in 2019 it will gain sequences linked to lupus.
