Related Experiment Video
Updated: Jun 7, 2026
05:51
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
The Simons Simplex Collection: a resource for identification of autism genetic risk factors
Gerald D Fischbach1, Catherine Lord
1Simons Foundation Autism Research Initiative, New York, NY 10010, USA. gf@simonsfoundation.org
Neuron
|October 20, 2010
Summary
Researchers are identifying genetic variants linked to autism risk using the Simons Simplex Collection (SSC). This large dataset aids in understanding autism's genetic underpinnings and clinical features.
Area of Science:
- Genetics
- Neuroscience
- Developmental Disorders
Background:
- Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition.
- Identifying genetic factors is crucial for understanding ASD etiology.
- De novo genetic variants are implicated in ASD risk.
Purpose of the Study:
- To identify de novo genetic variants contributing to autism risk.
- To leverage the Simons Simplex Collection (SSC) for genetic research.
- To correlate clinical, genetic, and neurobiological data in autism.
Main Methods:
- Utilized the Simons Simplex Collection (SSC), a sample of over 2000 families.
- Collected and analyzed clinical, genetic, and neurobiological data.
- Developed an interactive database for data correlation.
Main Results:
- The SSC sample includes probands with moderate to severe autistic symptoms.
- Probands exhibit relatively low levels of intellectual disability.
- Data integration facilitates research into autism's genetic architecture.
Conclusions:
- The SSC is a valuable resource for autism genetic research.
- Understanding de novo variants is key to autism etiology.
- Integrated data analysis can reveal complex genotype-phenotype relationships in autism.
Related Concept Videos
01:19Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
01:43Sex Linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
02:46Genetic Screens
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...