Precision medicine and neurological disorders
Answers
Neurological diseases are ideal choices for enhancing the impact of precision medicine. Precision medicine has recently become popular especially among those scientists and clinicians who are applying genomics and data mining to classify individuals into subgroups with different susceptibility to neurological diseases. Many neurodegenerative diseases, such as Alzheimer’s disease (AD), Parkinson’s disease (PD), Amyotrophic lateral sclerosis (ALS), are clinically heterogeneous neurodegenerative disease with a strong genetic component (3-7). Besides, gene polymorphism also plays an irreplaceable role in stroke and epilepsy (8). These are the end results of the complex effects of several genes interacting with the environment (9). In view of their high population prevalence, to identify its genetic background is as important as finding the environmental factors. Living in the era of genomics and big data, varied genetic research of neurological diseases will propel our understanding—their origins and mechanisms, and opportunities for prevention and treatment—laying a firm, broad foundation for precision medicine. Although the investigation of clinically relevant genetic variation remains a challenge, established examples are being used to stratify subgroups of patients to identify optimal treatments (10).
Emerging new tools, such as microarray and NGS, make it possible to collect large amounts of digital genetic data. These new sources of data, together with increasingly available molecular information from the genome, transcriptome, epigenome and proteome, have created much value and interest in treatments of neurological diseases. Before the development of NGS, both linkage analyses and targeted candidate gene studies identified a number of neurological diseases candidate genes. One of the earliest ways into understanding the genetic basis of neurological diseases was through investigating the association between neurological diseases and a specific allele of a single nucleotide polymorphism within the functional candidate genes between patients and controls. For example, much of the initial work on candidate genes of AD has come from studies of rare families where early-onset AD is transmitted autosomal-dominantly, resulting from three genes: APP, PSEN1 and PSEN2. These mutations alter production of the amyloid-β (Aβ) peptide which is the principal component of senile plaques (11). However, genetic variation in the APP, PSEN1 and PSEN2 genes has little or no effect on late-onset AD (12). In the search for new genes in AD, classic linkage-based and candidate-gene-based association studies have been supplanted by exome sequencing studies and GWAS. The hypothesis-free approach by GWAS contains nearly all common variants in the entire genome which can be tested for association with AD (13). GWAS allows interrogation of millions of polymorphisms simultaneously across the genome, leading to renewed hope, especially the era of large-scale GWAS. Recent large-scale GWAS have identified millions of genetic variations simultaneously across the genome and have been the driving force in the identification of more than ten main risk genes (CLU, TREM2, CR1, PICALM, BIN1, MS4A, CD2AP, CD33, EPHA1 and ABCA7) for late-onset AD (9,12-17). Tremendous progress has been made in understanding genomics of PD since the identification of the mutation in the gene encoding α-synuclein as well. Like AD, large consortia have pursued genetic variants associated with PD using genomic approaches and have identified a similar number of risk loci (18,19).
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"Therapies for neurological disorders may often consist of: Lifestyle changes to either prevent or minimize the impact of such conditions. Physiotherapy to manage the symptoms and restore some function. Pain management, as many impairments can be associated with considerable discomfort.
"Four crucial elements of precision medicine for neurological diseases. We propose three crucial elements of precision medicine for neurological diseases: comprehensive genetic assessment, classification, biomarkers for diagnosis, and modified treatments specified to a person's molecular drivers.
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