MRI Structural Magnetic Resonance Imaging (MRI) can be used to identify the structural composition of the brain. Particularly in the context of neurogenomics, MRI has played an extensive role in the study of Alzheimer's disease (AD) over the past four decades. It was initially used to rule out other causes of dementia, but recent studies indicated the presence of characteristic changes in patients with AD . As a result, MRI scans are currently being used as a neuroimaging tool to help identify the temporal and spatial pathophysiology of Alzheimer's disease, such as specific cerebral alterations and amyloid imaging. The ease and non-invasive nature of MRI scans has motivated research projects that trace the development and onset of psychiatric diseases in the brain. Alzheimer disease has become a key candidate in this topographical approach to psychiatric diseases. For example, MRI scans are currently being used to track the resting and task-dependent functional profiles of brains in children with autosomal dominant Alzheimer disease. These studies have found indications of early onset brain alterations in at-risk individuals for AD . The Autism Center of Excellence at University of California, San Diego, is also conducting MRI studies with children between 12 and 42 months, in the hopes of characterizing brain development abnormalities in children who present behavioural symptoms of autism. Whole genome sequencing (WGS) and whole exome sequencing (WES) has been used in Genome Wide Association Studies (GWAS) to characterize genetic variants associated with neurogenomic disorders. However, the impact of these variants cannot always be verified because of the non-Mendelian inheritance patterns observed in several of these disorders. Another prohibitive feature in network analysis is the lack of large-scale datasets for many psychiatric (neurogenomic) diseases. Since several diseases with neurogenomic underpinnings tend to have a polygenic basis, several nonspecific, rare, and partially penetrant de novo mutations in different patients can contribute to the same observed range of phenotypes, as is the case with Autism Spectrum Disorder and schizophrenia. Extensive research in alcohol dependence (ALC) has also highlighted the need for high-quality genomic profiling of large sample sets when studying polygenic, spectrum disorders. Neuropharmacology Historically, due to the behavioural stimulation manifested as a symptom in several the neurogenomic disorders, the therapies would rely mostly on anti-psychotics or antidepressents . These classes of medications would suppress common symptoms of the disorders, but with questionable efficacy. The biggest barrier to neruopharmacogenomic research was the cohort sizes. Given newly available large-cohort sequencing data, there has been a recent push to expand therapeutic options. The heterogenous nature of neurological diseases is the key motivation for personalized medicine approaches to their therapies. It is rare to find single high penetrance causative genes in neurological diseases. The genomic profiles understandably vary between cases, and logically, the therapies would need to vary between cases. Further complicating the issue is that many of these disorders are spectrum disorders. Their genetic etiology will vary within this spectrum. For example, severe ASD is associated with high penetrance de novo mutations. Milder forms of ASD is usually associated with a mixture of common variants.
MRI Structural Magnetic Resonance Imaging (MRI) can be used to identify the structural composition of the brain. Particularly in the context of neurogenomics, MRI has played an extensive role in the study of Alzheimer's disease over the past four decades. It was initially used to rule out other causes of dementia, but recent studies indicated the presence of characteristic changes in patients with Alzheimer's disease . As a result, MRI scans are currently being used as a neuroimaging tool to help identify the temporal and spatial pathophysiology of Alzheimer's disease, such as specific cerebral alterations and amyloid imaging. The ease and non-invasive nature of MRI scans has motivated research projects that trace the development and onset of psychiatric diseases in the brain. Alzheimer disease has become a key candidate in this topographical approach to psychiatric diseases. For example, MRI scans are currently being used to track the resting and task-dependent functional profiles of brains in children with autosomal dominant Alzheimer disease. These studies have found indications of early onset brain alterations in at-risk individuals for Alzheimer's disease . The Autism Center of Excellence at University of California, San Diego, is also conducting MRI studies with children between 12 and 42 months, in the hopes of characterizing brain development abnormalities in children who present behavioural symptoms of autism. Whole genome sequencing (WGS) and whole exome sequencing (WES) has been used in Genome Wide Association Studies (GWAS) to characterize genetic variants associated with neurogenomic disorders. However, the impact of these variants cannot always be verified because of the non-Mendelian inheritance patterns observed in several of these disorders. Another prohibitive feature in network analysis is the lack of large-scale datasets for many psychiatric (neurogenomic) diseases. Since several diseases with neurogenomic underpinnings tend to have a polygenic basis, several nonspecific, rare, and partially penetrant de novo mutations in different patients can contribute to the same observed range of phenotypes, as is the case with Autism Spectrum Disorder and schizophrenia. Extensive research in alcohol dependence has also highlighted the need for high-quality genomic profiling of large sample sets when studying polygenic, spectrum disorders. Neuropharmacology Historically, due to the behavioural stimulation manifested as a symptom in several the neurogenomic disorders, the therapies would rely mostly on anti-psychotics or antidepressants . These classes of medications would suppress common symptoms of the disorders, but with questionable efficacy. The biggest barrier to neruopharmacogenomic research was the cohort sizes. Given newly available large-cohort sequencing data, there has been a recent push to expand therapeutic options. The heterogenous nature of neurological diseases is the key motivation for personalized medicine approaches to their therapies. It is rare to find single high penetrance causative genes in neurological diseases. The genomic profiles understandably vary between cases, and logically, the therapies would need to vary between cases. Further complicating the issue is that many of these disorders are spectrum disorders. Their genetic etiology will vary within this spectrum. For example, severe ASD is associated with high penetrance de novo mutations. Milder forms of ASD is usually associated with a mixture of common variants.
D
(AD)
R
AD
Alzheimer's disease
R
AD
Alzheimer's disease
D
(ALC)
R
antidepressents
antidepressants