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The mutation that causes Angelman syndrome makes neurons hyperexcitable, according to a study in brain organoids and mice1. The findings may help explain why about 90 percent of people with the syndrome experience seizures that do not respond to treatment.

Angelman syndrome is a rare genetic condition linked to autism. It is caused when the maternal copy of a gene called UBE3A is either missing or mutated. Apart from seizures, the condition is characterized by developmental delay, problems with balance and speech, and an unusually happy disposition.

The new study found that mutations in UBE3A suppress the production of proteins that keep the activity of ‘big potassium’ ion channels in check. These channels control the flow of large amounts of potassium ions passing through neurons. When the current increases in the absence of UBE3A, the neurons become exceptionally excitable.

A group of University of Chicago scientists has uncovered a previously unknown way that our genes are made into reality.

Rather than directions going one-way from DNA to RNA to proteins, the latest study shows that RNA itself modulates how DNA is transcribed—using a that is increasingly apparent to be vital to biology. The discovery has significant implications for our understanding of human disease and drug design.

“It appears to be a fundamental pathway we didn’t know about. Anytime that happens, it holds promise to open up completely new directions of research and inquiry,” said Prof. Chuan He, a world-renowned chemist.

Human skin is a fascinating multifunctional organ with unique properties originating from its flexible and compliant nature. It allows for interfacing with external physical environment through numerous receptors interconnected with the nervous system. Scientists have been trying to transfer these features to artificial skin for a long time, aiming at robotic applications.

Robotic systems heavily rely on electronic and magnetic field sensing functionalities required for positioning and orientation in space. Much research has been devoted to implementation of these functionalities in a flexible, compliant form. Recent advancements in flexible sensors and organic electronics have provided important prerequisites. These devices can operate on soft and elastic surfaces, whereas sensors perceive various physical properties and transmit them via readout circuits.

To closely replicate natural skin, it is necessary to interconnect a large number of individual sensors. This challenging task became a major obstacle in realizing electronic skin. First demonstrations were based on an array of individual sensors addressed separately, which unavoidably resulted in a tremendous number of electronic connections. In order to reduce the necessary wiring, important technology had to be developed—namely, complex electronic circuits, current sources and switches had to be combined with individual magnetic sensors to achieve fully integrated devices.