Genomics in Neurological Disorders

Han, Guangchun; Sun, Jiya; Wang, Jiajia; Bai, Zhouxian; Song, Fuhai; Lei, Hongxing

doi:10.1016/j.gpb.2014.07.002

Cited by 26 publications

(16 citation statements)

References 76 publications

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“…Although less understood, genomic approaches also apply to neurobiology, especially in the study of Alzheimer’s and autism spectrum disorders. 91 With large-scale efforts in mapping the human brain using cutting edge brain imaging techniques, high-volume data approaches are becoming increasingly useful in understanding neurodegenerative diseases. Understanding mutations and predispositions to these diseases would allow for early intervention, which is often the only hope for therapy.…”

Section: Opportunitiesmentioning

confidence: 99%

Clinical Genomics: Challenges and Opportunities

Vijay

McIntyre

Mason

et al. 2016

Crit Rev Eukaryot Gene Expr

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Next-generation sequencing (NGS) approaches are highly applicable to clinical studies. We review recent advances in sequencing technologies, as well as their benefits and tradeoffs, to provide an overview of clinical genomics from study design to computational analysis. Sequencing technologies enable genomic, transcriptomic, and epigenomic evaluations. Studies that use a combination of whole genome, exome, mRNA, and bisulfite sequencing are now feasible due to decreasing sequencing costs. Single-molecule sequencing increases read length, with the MinION™ nanopore sequencer, which offers a uniquely portable option at a lower cost. Many of the published comparisons we review here address the challenges associated with different sequencing methods. Overall, NGS techniques, coupled with continually improving analysis algorithms, are useful for clinical studies in many realms, including cancer, chronic illness, and neurobiology. We, and others in the field, anticipate the clinical use of NGS approaches will continue to grow, especially as we shift into an era of precision medicine.

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Section: Opportunitiesmentioning

confidence: 99%

Clinical Genomics: Challenges and Opportunities

Vijay

McIntyre

Mason

et al. 2016

Crit Rev Eukaryot Gene Expr

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“…Two genes are reported to have exhibited the strongest correlation with disease occurence when overexpressed, TYROBP and APOE. 9 TYROBP is expressed in microglial cells and has a role in amyloid-beta turnover and neuronal damage. 10 APOE is expressed in astrocytes and the APOE4 phenotype holders exhibit GABA interneuron dysfunction which is thought to have implications on disease pathogenesis.…”

Section: Alzheimer's Diseasementioning

confidence: 99%

“…9 The age of onset is from 3 years of age to early childhood. 9 Although, with increasing recognition of autism, it may also be diagnosed in adults who have received other diagnoses in the past (e.g. Intellectual Disability).…”

Section: Autism Spectrum Disordermentioning

confidence: 99%

Human transcriptome - molecular neurobiology

Đerke¹,

Njirić²

2015

Gyrus

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“…While recent advances and issues related to personalised medicine for brain disorders have been more extensively reviewed elsewhere [7,8,9,10,11,12], in this article we have chosen only few examples as paradigms of neurological, neurosurgical, and psychiatric conditions which emphasise the major scientific challenges facing the discipline. In addition, we also discussed ‘brain-specific' practical and ethical challenges related to genetic/epigenetic disease assessment, brain banking, and patient involvement.…”

Section: Introductionmentioning

confidence: 99%

Gene-Tailored Treatments for Brain Disorders: Challenges and Opportunities

Esposito

Burgunder

Dunlop

et al. 2016

Public Health Genomics

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Brain disorders pose major challenges to medicine and treatment innovation. This is because their spectrum spans inflammatory, degenerative, traumatic/ischaemic, and neoplastic disease processes with a complex and often ill- understood aetiology. An improved genetic and genomic understanding of specific disease pathways offers new approaches to these challenges, but at present it is in its infancy. Here, we review different aspects of the challenges facing neuromedicine, give examples of where there are advances, and highlight challenges to be overcome. We see that some disorders such as Huntington's disease are the product of single gene mutations, whose discovery has been leading to the development of new targeted interventions. In the field of neurosurgery, the identification of a number of mutations allows an elaborated genetic analysis of brain tumours and opens the door to individualised therapies. Psychiatric disorders remain the area where progress is slow. Genetic analyses show that for major common disorders such as schizophrenia and depression there are no single gene alterations which offer options for targeted therapy development. However, new approaches are being developed to leverage genetic information to predict patients' responses to treatment. These recent developments hold promise for early diagnosis, follow-up with personalised treatments with adjusted therapeutic doses, predictable responses, reduced adverse drug reactions, and personal health planning. The scenario is promising but calls for increased support for curiosity-driven research into the mechanisms of normal brain functioning as well as challenging adaptations of health care and research infrastructures, encompassing legal frameworks for analysing large amounts of personal data, a flexible regulatory framework for correlating big data analyses in cooperative networks between academia and the drug development industry, and finally new strategies for brain banking in order to increase access to brain tissue samples. To make personalised medicine for brain disorders a reality, a joint effort between all relevant stakeholders - among which patients and patient organisations should play an important role - is required.

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Genomics in Neurological Disorders

Cited by 26 publications

References 76 publications

Clinical Genomics: Challenges and Opportunities

Clinical Genomics: Challenges and Opportunities

Human transcriptome - molecular neurobiology

Gene-Tailored Treatments for Brain Disorders: Challenges and Opportunities

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