SNPs

Illustration of hybrid objects: part light bulb, part lab vial, some in blue and some in red to signify null and replicated results.

Null and Noteworthy: Modified MRI; father findings

This month’s newsletter tackles null findings from an attempted replication of a “revolutionary” MRI approach and an analysis of family genetics.

By Emily Harris
22 June 2023 | 4 min read
Conceptual illustration of two DNA helixes with several overlapping portions showing common and differing genes.
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Genome scan spots common variant differences between autism and ADHD

Common variants in five regions of the genome may determine whether someone has one condition versus the other.

By Charles Q. Choi
12 October 2022 | 5 min read

New resource maps gene expression, regulation in neuron subtypes

The catalog could help researchers understand the effects of autism-linked DNA variants that fall outside genes.

By Chloe Williams
1 July 2022 | 4 min read
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Information loss may weaken autism genetic scores

Even the best data practices and technology drop key variants in attempts to predict autism likelihood.

By Laura Dattaro
13 May 2022 | 3 min read
Nighttime crowded Shanghai street scene with illumination from electric and neon signs.

New resource tracks genetic variations in Han Chinese populations

An online database called NyuWa catalogs genetic variations among nearly 3,000 individuals and provides a comprehensive reference genome for the Han people.

By Shafaq Zia
9 December 2021 | 3 min read
Four brains showing areas affected by the X chomosome in yellow

X chromosome exerts extra influence on brain development

The X chromosome holds stronger-than-expected genetic sway over the structure of several brain regions. The genes that may underlie this oversized influence have ties to autism.

By Rachel Zamzow
15 September 2021 | 5 min read
Brain composed of legos with various legos scattered around
Spectrum Microphone

Patchwork mutations present a new frontier for autism research

Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.

By Grace Huckins
12 July 2021 | 10 min read
Micrograph of two developing axons, one with one copy of TSC2 gene and the other with two copies.

Disrupted cell skeletons may explain brain wiring changes in autism-linked condition

Neuronal axons ignore guidance cues after a mutation in the gene TSC2 disrupts signaling through RhoA, a protein regulated by many autism-linked genes.

By Niko McCarty
28 June 2021 | 5 min read

Genetic variants in protein target sites may contribute to autism

Mutations that disrupt binding sites in RNA molecules may play a role in autism and a variety of psychiatric conditions, according to a new study.

By Grace Huckins
12 February 2021 | 4 min read
Colorful chart showing variants in chromosomes.

Scan of genomes for inherited variants lays bare new autism candidate

Lowered expression of a gene called DDHD2 may increase a person's likelihood of having autism, according to a new analysis.

By Peter Hess
10 September 2020 | 5 min read

Explore more from The Transmitter

Illustration of a scientist attempting to wrangle many forms of data at once: a pile of charts and graphs threatens to knock them off of their feet as they attempt to prop it up.

Neuroscience graduate students deserve comprehensive data-literacy education

Despite growing requirements around how to handle and share data, formal training is lacking.

By Letisha R. Wyatt
15 July 2024 | 6 min read

10 standards for brain electrode-array recordings enhance reproducibility

Electrophysiology findings can vary widely from lab to lab, even among those using identical protocols. New guidelines set forth in a preprint should help.

By Elissa Welle
12 July 2024 | 5 min read
A hand holds a stack of speech bubbles.

Leveraging the power of community to strengthen clinical trials for rare genetic syndromes

Families can become not only participants but champions of these research efforts.

By Shafali Spurling Jeste
11 July 2024 | 7 min read