Posts Tagged ‘ASD’

…request | Mapping cis-regulatory elements in neurons

July 2, 2022

link to the article about cis-regulatory elements:

New resource maps gene expression, regulation in neuron subtypes BY CHLOE WILLIAMS / 1 JULY 2022

“That’s interesting,” says Mark Gerstein, professor of biomedical informatics at Yale University, who was not involved in the research. The findings might imply that autism affects subtypes of neurons equally, but classifying excitatory and inhibitory neurons into even smaller groups could lead to different results, he says.

Single-cell genomics of autism

May 18, 2019

Final Article — American Scholar Magazine

March 12, 2019

Decoding DNA
On the hunt for the genetic roots of mental illnesses

By Marcus Banks | March 4, 2019

The model, a form of artificial intelligence, aims to use abstract knowledge gained in the research lab to improve clinical treatments for real patients. The ultimate goal, says Gerstein, is to use the model to develop pharmaceutical treatments that reduce the impact of schizophrenia. Part of the challenge in developing drugs to treat the disease is the fact that it is not a one-size-fits-all condition. “]]

Analysis spotlights mutations in ‘dark’ regions of the genome | Spectrum | Autism Research News

December 23, 2018

Massive analysis refines map of autism’s genetic roots | Spectrum | Autism Research News

December 23, 2018

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder | Nature Neuroscience

July 27, 2018

Genome-wide prediction & functional characterization of the genetic basis of autism spectrum disorder, by @OlgaTroyanskaya lab Intersected candidate #ASD genes w/ #BrainSpan gene expression to find a pre-natal signal for the disease

George Church ascribes his visionary ideas to narcolepsy

July 18, 2017

.@GeoChurch ascribes his…ideas to narcolepsy Advocates more neurodiversity, ie those w. ASD, OCD, ADD + narcolepsy

“His condition has persuaded Church of the benefits of, even the need for, neurodiversity, meaning brains that work differently from most others. The world needs people with high-functioning autism and obsessive-compulsive disorder and attention deficit disorder and, yes, narcolepsy, he has come to believe.”

Genome-wide, integrative analysis implicates microRNA dysregulation in autism spectrum disorder : Nature Neuroscience : Nature Research

January 28, 2017

Genome-wide…analysis implicates miRNA dysregulation in #ASD 58 diff. expr. miRNAs incl 17 strongly down in cases

The miRNA expression profiles were very similar between the frontal and temporal cortex, but were distinct in the cerebellum
(Supplementary Fig. 2a–f), consistent with previous observations for mRNAs11, 12. We therefore combined 95 covariate-matched samples (47 samples from 28 ASD cases and 48 samples from 28 controls;
Supplementary Fig. 1c and Supplementary Table 1) from the FC and TC for differential gene expression (DGE) analysis, comparing ASD and CTL using a linear mixed-effects regression framework to control for potential confounders (Online Methods). We identified 58 miRNAs showing significant (false discovery rate (FDR) < 0.05) expression changes between ASD and CTL: 17 were downregulated and 41 were upregulated in ASD cortex (Fig. 1b and Supplementary Table 2). The fold changes for the differentially expressed miRNAs were highly concordant between the FC and TC (Pearson correlation coefficient R = 0.96, P < 2.2 × 10−16; Fig. 1c).

Genotype to phenotype relationships in autism spectrum disorders : Nature Neuroscience : Nature Publishing Group

February 26, 2015

Genotype to phenotype relationships in ASD Expression differences in #brain development for LOF-containing, M v F, &c

Also, netbag finds subnets assoc w autism