Genes Hold the Key to Preventing Brain Disease | World Brain Day 2025
2025-07-22
Genomics is transforming our approach to brain health, offering powerful tools for the early detection and prevention of neurological diseases. Scientists and clinicians can identify genetic risks long before symptoms appear, via DNA analysis. This helps pave the way for targeted interventions that protect cognitive function throughout life.
The World Brain Day 2025’s theme is “Brain Health for All Ages”. It emphasizes the urgent need for early detection and intervention across the entire lifespan. Recent World Health Organization data reveal how neurological disorders remain the leading cause of disability globally and the second leading cause of death, making prevention a critical priority. This year’s theme highlights how genetic testing and early intervention can protect brain health from pre-conception through aging
Infographic displaying the global burden of neurological disorders in 2024 (Based on WHO data).
Proteins Guide Promising Treatments
In a recent study, University of Sydney researchers have made a groundbreaking discovery that exemplifies this preventive approach. The team identified a faulty version of the SOD1 protein in Parkinson's disease brains and developed a treatment that dramatically improved motor function in mice when targeted with a specialized copper supplement. This breakthrough represents a new frontier in brain health protection, demonstrating how understanding genetic abnormalities can lead to early interventions that prevent disease progression.
The SOD1 protein normally protects the brain, but in Parkinson's patients, it becomes misfolded and damages brain cells. Professor Kay Double and her team spent over a decade investigating this phenomenon before publishing their initial findings in 2017. Their latest study, released on PubMed, proves that targeting this faulty protein with copper treatment prevented movement problems in mice bred with Parkinson-like symptoms.
The results exceeded expectations. Mice receiving the copper supplement showed dramatic improvements in motor skills, while untreated mice experienced declining motor function. This suggests that early intervention targeting specific genetic abnormalities could slow disease progression in humans.
Modern genetic testing has revealed that neurological diseases often begin years before symptoms appear. Research shows that genetic biomarkers can predict disease risk decades before clinical symptoms develop. Machine learning analysis of genetic data has achieved 88.3% accuracy in predicting neurological diseases including Alzheimer's, Parkinson's, and motor neuron disease.
Critical genetic markers like LRRK2 gene mutations (found in 3% of Parkinson's patients), GBA gene variants (discovered in 10% of Parkinson's patients with odds ratios of 9.92 to 21.29), and PRKN gene variations associated with early-onset Parkinson's provide early warning signals. Whole genome sequencing studies have identified novel structural variants, including a 2kb deletion in the LRRK2 gene that affects Parkinson's risk.
Genomics Enabling Early Prevention
Whole genome sequencing (WGS) has revolutionized our ability to detect genetic risks for brain diseases. This technique examines genetic variations ranging from single-nucleotide mutations to large structural variants, providing comprehensive assessment of neurological disease risk.
BGI Genomics advanced WGS services detect genome-wide genetic variations, pathogenic genes, and structural variations including SNPs, indels, copy number variants, and structural variants.
BGI Genomics Stereo-seq represents a quantum leap in understanding brain diseases at the cellular level. This spatial transcriptomics based technology creates comprehensive brain maps with subcellular resolution, allowing scientists to observe cellular organization and gene expression patterns in brain tissues.
Find out more on Stereo-seq potential applications here.
From Awareness to Action
More and more people are ready to engage with genetic insights into their brain health. Another PubMed research shows 75% of patients expressed interest in learning their genetic risk scores for neurological diseases, demonstrating a growing public appetite for proactive, personalized care. Real-world data from the PD GENEration study reinforce this potential. Of more than 4,000 participants, 13.8% were found to carry reportable genetic variants linked to Parkinson’s disease. Even among individuals without family history or known risk factors, 8% had detectable abnormalities—underscoring the value of broader screening to uncover hidden risk.
These findings highlight a shifting paradigm: early detection via genomics is not just about predicting diseases. It equips individuals and healthcare systems to act before irreversible damage occurs. With genetic testing becoming more accessible and comprehensive, we stand at the threshold of transforming brain health from reactive treatment to proactive prevention.
About Whole Genome Sequencing (WGS)
BGI Genomics Whole Genome Sequencing (WGS) service detects the complete genome sequence at one time and provides a high-resolution, base-by-base view of the genome. This enables researchers to see both large and small variants and identify potential causative variants for further follow-on gene expression or regulation mechanism studies.
About BGI Genomics
BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.