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A computational approach to predicting autism risk genes

Simons Center for Data Analysis scientist Olga Troyanskaya has developed a machine-learning tool that uses neural interaction networks to predict autism risk genes.

Update on Simons Simplex Collection whole-genome sequencing data availability

Plans are underway to perform whole-genome sequencing of the entire Simons Simplex Collection (SSC). Genomes from 553 families (2,174 genomes) have been sequenced and are available to approved researchers with no publication embargo restrictions. An additional 619 families (2,476 genomes) are currently being sequenced and are expected to be available in the fall of 2016. A four-month publication embargo will apply to that batch of samples. Sequencing of the entire collection is expected to be completed by late 2017.

Human-specific BOLA2 duplication at chromosomal region 16p11.2 and the susceptibility of this locus to recurrent rearrangements

Evan Eichler reconstructs the evolution of chromosome 16p11.2 and finds most disease-causing rearrangements map within a H. sapiens-specific duplication containing BOLA2.

Microglia excessively engulf synapses weakened by loss of MeCP2

Beth Stevens shows that, in MeCP2 null mice, microglia excessively eliminate presynaptic inputs, targeting synapses previously weakened by MeCP2 loss in other CNS cell types.

Autism BrainNet begins tissue distribution

Autism BrainNet has begun distributing postmortem brain tissue to qualified investigators working on autism and related neurodevelopmental disorders. Initially, distributed tissue will be restricted to donations previously collected by the Autism Tissue Program. Distribution of new donations (collected under the auspices of Autism BrainNet) is expected to begin in the fall of 2016.

A new resource to mine recessive disease genes

Joseph Gleeson and colleagues have generated a publically accessible whole-exome variome from 1,111 unrelated individuals within the Greater Middle East Variome Consortium.

Normal human chromosomes visualized by spectral karyotyping (SKY). Spectral karyotyping is a molecular cytogenetic technique used to simultaneously visualize all the pairs of chromosomes in an organism in different colors. Fluorescently labeled probes for each chromosome are made by labeling chromosome-specific DNA with different fluorophores. Because there are a limited number of spectrally distinct fluorophores, a combinatorial labeling method is used to generate many different colors. Spectral differences generated by combinatorial labeling are captured and analyzed by using an interferometer attached to a fluorescence microscope. Image processing software then assigns a pseudo color to each spectrally different combination, allowing the visualization of the individually colored chromosomes. This technique is used to identify structural chromosome aberrations in cancer cells and other disease conditions when Giemsa banding or other techniques are not accurate enough.

SFARI Gene update

New data were added to SFARI Gene in June. This data release included the addition of new human genes implicated in autism, new animal models, and new protein-protein and protein-nucleic-acid interactions of relevance for autism.

Taking stock

Alan Packer, senior scientist at SFARI, discusses a number of recent review articles that provide interesting and complementary overviews of what we currently know about the neurobiology of autism. Together, these reviews reveal how much basic research on autism has grown over the past decade.

A Conversation with Pamela Feliciano, Scientific Director of SPARK

Pamela Feliciano discusses the motivation behind SPARK and insights gained from the initial phases of the project.

Deficits in peripheral sensory neurons contribute to autism-like behaviors in mice

David Ginty shows that four different mice harboring mutations in ASD risk genes have altered peripheral sensory neuron processing that contributes to ASD-like phenotypes.