Neurogenetic Risk Variants in Brazilians

In their 2025 study, Nunes et al. sequenced the genomes of 2,723 Brazilians, uncovering nearly 9 million previously unreported genetic variants—an important step in closing the genomic data gap for underrepresented and admixed populations. Building on this, researchers analyzed novel missense variants predicted to be pathogenic by multiple tools (SIFT, PolyPhen-2, and AlphaMissense) and found 13 such variants in eight genes linked to neurogenetic diseases. These included associations with familial Alzheimer’s (PSEN1, PSEN2), Parkinson’s (LRRK2, VPS35), frontotemporal dementia and ALS (TARDBP, C9orf72), as well as rarer disorders like dystonia (TOR1A) and spinocerebellar ataxia type 5 (SPTBN2). The study underscores the value of high-resolution genomic research in diverse populations to inform precision medicine and public health.