Related Experiment Video
Updated: Feb 11, 2026
05:51
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
26.5K
Genomic and Imaging Biomarkers in Schizophrenia
J T Reddaway1, J L Doherty1,2, T Lancaster1,2,3
1Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK.
Current Topics in Behavioral Neurosciences
|April 27, 2018
Summary
Schizophrenia is a complex polygenic disorder influenced by common and rare genetic variants. Genomic studies are identifying biological pathways and brain markers, aiding risk stratification and biomarker development.
Area of Science:
- Neurogenetics
- Psychiatric Genetics
Background:
- Schizophrenia is a polygenic syndrome with contributions from common and rare genetic variants.
- No simple Mendelian inheritance patterns have been identified for schizophrenia.
Purpose of the Study:
- To explore the role of common and rare genetic variants in schizophrenia etiology.
- To investigate biological pathways and brain imaging markers associated with schizophrenia risk.
Main Methods:
- Large-scale genomic studies to identify risk-associated variants.
- Pathway analysis of genetic variants.
- Genomic imaging to investigate brain markers.
Main Results:
- Identified polygenic burden and rare variants like Copy Number Variants (CNVs) in schizophrenia risk.
- Pathway analysis implicated glutamatergic, synaptic, voltage-gated calcium channel, FMRP target, and immune pathways.
- Genomic imaging studies explored polygenic risk and CNV effects on brain markers.
Conclusions:
- Genomic and genomic imaging approaches show promise for patient stratification and biomarker discovery.
- Further research is needed to integrate these findings for improved schizophrenia management.
Related Concept Videos
01:17Schizophrenia
1.0K
Schizophrenia, a term introduced by Swiss psychiatrist Eugen Bleuler in 1911, describes a severe psychological disorder marked by profound disruptions in attention, thought processes, language, emotion, and interpersonal relationships. The core feature of schizophrenia is psychosis — a state characterized by a fundamental detachment from reality. This disconnection manifests through distorted logic, impaired perception, and atypical behavior, severely affecting the lives of those...
1.0K
01:29Biological Causes of Schizophrenia
656
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
656
02:02Genomics
40.9K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
40.9K
01:29Psychological and Sociocultural Causes of Schizophrenia
645
Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
645
01:30Negative and Cognitive Symptoms of Schizophrenia
635
Negative symptoms of schizophrenia indicate a reduction or absence of typical behaviors and emotional responses found in healthy individuals, while positive symptoms reflect an excess or distortion of normal functioning.
Negative Symptoms
Negative symptoms of schizophrenia manifest as deficits in normal emotional and behavioral functioning, profoundly impacting daily life. Individuals with schizophrenia often display a flat affect, characterized by a near-total absence of emotional expression,...
Negative Symptoms
Negative symptoms of schizophrenia manifest as deficits in normal emotional and behavioral functioning, profoundly impacting daily life. Individuals with schizophrenia often display a flat affect, characterized by a near-total absence of emotional expression,...
635
02:30Genomic Imprinting and Inheritance
37.3K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.3K