Lifeboat Foundation

Northwestern Medicine scientists have identified the cause of a genetic subtype of autism and schizophrenia that results in social deficits and seizures in mice and humans.

Scientists have discovered a key feature of this subtype is a duplicated gene that results in overactive or overexcited brain circuits. The subtype is called 16p11.2 duplication syndrome.

“We found that mice with the same genetic changes found in humans are more likely to have seizures and also have social deficits,” said lead author Marc Forrest, research assistant professor of neuroscience at Northwestern University Feinberg School of Medicine.

Rare diseases affect 6–8% of the world’s population and, although we know that small changes in the patient’s DNA are responsible for causing the majority of cases, most people wait several years before they are diagnosed and potentially treated. This hunt for an explanation is extremely distressing for the patients and their families, as well as costing healthcare systems large sums of money for medical investigations and treatments.

Background

Even for the simplest cases, where a single change in a patient’s DNA disrupts a gene and always causes the rare disease, identifying which change in the three billion base pairs in each of our genomes is a huge challenge. Prior to the completion of the human genome in 2003, we did not even know what the normal state of affairs was. Even then, the available sequencing technology limited us to only interrogating small parts of a patient’s genome, directed by intelligent guesswork, with mixed results.

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Move over artificial intelligence, say hello to “organoid intelligence” (OI).

Life began on Earth about 3.7 billion years ago. But what if it was present in the universe even before that? It sounds strange, but this is what the Pansper…

The ability to extinguish fear memories when threats are no longer present is critical for adaptive behavior. Fear extinction represents a new learning process that eventually leads to the formation of extinction memories. Understanding the neural basis of fear extinction has considerable clinical significance as deficits in extinction learning are the hallmark of human anxiety disorders. In recent years, the dopamine (DA) system has emerged as one of the key regulators of fear extinction. In this review article, we highlight recent advances that have demonstrated the crucial role DA plays in mediating different phases of fear extinction. Emerging concepts and outstanding questions for future research are also discussed.

Learning to associate stimuli and situations with danger or safety is critical for survival and adaptive behavior. In the laboratory, these forms of learning are typically studied using Pavlovian fear conditioning and extinction. Fear conditioning is an example of associative learning in which an initially neutral stimulus such as a tone (conditioned stimulus, CS) comes to elicit fear responses after being paired in time with an aversive outcome such as a foot shock (unconditioned stimulus, US). Once the CS-US association is learned, subsequently repeated presentations of the CS in the absence of the aversive US result in a gradual decrease in conditioned fear responses, a process known as fear extinction. In the last decades, fear extinction has attracted much interest in part because deficits in extinction learning are thought to underlie human anxiety disorders, such as post-traumatic stress disorder (PTSD) and phobias (Graham and Milad, 2011; Pitman et al., 2012; Craske et al.

In recent decades, extracellular vesicles have been recognized as “very important particles” (VIPs) associated with aging and age-related disease. During the 1980s, researchers discovered that these vesicle particles released by cells were not debris but signaling molecules carrying cargoes that play key roles in physiological processes and physiopathological modulation. Following the International Society for Extracellular Vesicles (ISEV) recommendation, different vesicle particles (e.g., exosomes, microvesicles, oncosomes) have been named globally extracellular vesicles. These vesicles are essential to maintain body homeostasis owing to their essential and evolutionarily conserved role in cellular communication and interaction with different tissues. Furthermore, recent studies have shown the role of extracellular vesicles in aging and age-associated diseases.

Long considered science fiction, leaving the solar system and speeding amid the stars may soon be within reach.

Saad Bhamla was in his backyard when he noticed something he had never seen before: an insect urinating. Although nearly impossible to see, the insect formed an almost perfectly round droplet on its tail and then launched it away so quickly that it seemed to disappear. The tiny insect relieved itself repeatedly for hours.

It’s generally taken for granted that what goes in must come out, so when it comes to fluid dynamics in animals, the research is largely focused on feeding rather than excretion. But Bhamla, an assistant professor in the School of Chemical and Biomolecular Engineering at the Georgia Institute of Technology, had a hunch that what he saw wasn’t trivial.

“Little is known about the fluid dynamics of excretion, despite its impact on the morphology, energetics, and behavior of animals,” Bhamla said. “We wanted to see if this tiny insect had come up with any clever engineering or physics innovations in order to pee this way.”