By Maria Fernanda Ziegler, in New York  |  Agência FAPESP – Research conducted by the ENIGMA international consortium has studied the brains of more than 3,800 volunteers from several countries for the purpose of discovering similarities and differences between brain anatomy and different types of epilepsy. The goal is to seek markers that help in disease prognosis and treatment.

Another group of researchers is using analysis of patient levels of two microRNAs, genetic markers that serve as indicators of Amyotrophic Lateral Sclerosis (ALS) – the disease that affected British physicist Stephen Hawking.

A third study, also on epilepsy, suggests that deregulation of the NEUROG2 gene is related to the appearance of focal cortical dysplasia – a brain defect that is one of the most common causes of medically refractory epilepsy. With identification of this biomarker, it will be possible to indicate various treatments such as surgery for patients who suffer from drug-resistant epilepsy.

The three studies include participation by researchers from the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), a Research, Innovation and Dissemination Center (RIDC) funded by FAPESP, headquartered at the University of Campinas (Unicamp).

“Our objective is to develop new methods and techniques to improve our understanding of how to treat and prevent debilitating diseases and conditions that affect the brain, such as epilepsy and cerebral vascular accident (CVA). We are also interested in studying diseases that cause dementia or motor problems, as in the case of ALS,” said Iscia Cendes, principal investigator of BRAINN, in a talk given at FAPESP Week New York – held at the City University of New York (CUNY) November 26-28, 2018, the meeting involved Brazilian and U.S. researchers with the aim of strengthening research partnerships.

“Human beings, just like the diseases we are studying, are very complex. That is why we think that participation in consortia and partnerships is the best way to leverage our discoveries,” Cendes said.

The researcher said that since the establishment of BRAINN, in 2013, the number of big data projects in neuroscience has increased. Examples of these types of projects include the BRAIN initiative in the United States, the Human Brain Mapping initiative in Europe, the Alzheimer’s Disease Neuroimaging Initiative (ADNI), the International League Against Epilepsy (ILAE) and the ENIGMA consortium.

“Big data efforts have become the modus operandi of neuroscience, replacing small-scale science based on hypotheses,” she said.

It is no coincidence that Cendes says that the next BRAINN projects will include advancing longitudinal studies. “That is one of our strong points as a group,” she added.

BIPMED

Another BRAINN proposal is reducing the gap between basic biological research and its clinical application. One of the lines of research for that purpose is the Brazilian Initiative on Precision Medicine (BIPMed), an initiative created in 2015 by five FAPESP-funded RIDCs.

“The first BIPMed product was creation of a database of genomes corresponding to healthy individuals and those with specific diseases. There are currently more than 900,000 genetic variants deposited in the database,” she said.

The database includes deposits of genomes related to epileptic encephalopathies, craniofacial anomalies, breast cancer, hereditary deafness and neurofibromatosis, and in 2019, sequences related to lupus will be added.