Lifeboat Foundation

The results of research led by scientists at the University of Exeter, and at King’s College London, suggests that young people could be spared from going blind by a new genetic risk tool that could also help predict patients who will progress to multiple sclerosis (MS) earlier, and get treatment started earlier. The study has shown for the first time that combining genetic risk for MS with demographic factors significantly improves MS risk prediction in people presenting with the eye disorder, which is called optic neuritis (ON).

Tasanee Braithwaite, MD, consultant ophthalmologist to the Medical Eye Unit at Guy’s and St Thomas NHS Foundation Trust, and adjunct senior lecturer at King’s College London said, “As a doctor caring for many patients with optic neuritis, I’m excited by the possibility of translating this pilot research into front line clinical care in the near future. Whilst more research is needed, our study provides a strong signal that we could better identify patients at high risk of MS, perhaps enabling these people to have earlier MS treatment in the future. Whereas, if we could better identify people whose optic neuritis is very unlikely to result from MS, we could treat these people urgently to reduce irreversible vision loss and blindness.”

Braithwaite is senior author of the team’s published paper in Nature Communications, titled “Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis,” in which they concluded, “This study indicates that a combined model might enhance individual MS risk stratification, paving the way for precision-based ON treatment and earlier MS disease-modifying therapy.”

Professor Emeritus Johan Frederik Storm has led research forming the basis of a article that aims to uncover an alternative approach to the understanding of how human consciousness functions. It is currently available on the PsyArXiv preprint server and in prepress in the journal Neuron.

“We suggest how different theories that appear to be conflicting can perhaps be combined after all and complement each other within the framework of a more comprehensive theory of consciousness,” explains Storm.

There are many differing schools of thought about consciousness in the field of brain research and Storm puts forward the factors that have probably led to a lot of apparent disagreement.

Scientists at UC San Francisco may have discovered a new way to test for autism by measuring how children’s eyes move when they turn their heads. They found that kids who carry a variant of a gene that is associated with severe autism are hypersensitive to this motion.

The gene, SCN2A, makes an ion channel that is found throughout the brain, including the region that coordinates movement, called the cerebellum. Ion channels allow electrical charges in and out of cells and are fundamental to how they function. Several variants of this gene are also associated with severe epilepsy and intellectual disability.

The researchers found that children with these variants have an unusual form of the reflex that stabilizes the gaze while the head is moving, called the vestibulo-ocular reflex (VOR). In children with autism, it seems to go overboard, and this can be measured with a simple eye-tracking device.

https://www.news-medical.net/news/20240228/ChatGPT-aids-in-d…osing.aspx Nature

ChatGPT-4 to identify drug repurposing candidates against Alzheimer’s disease (AD).

Philosopher David Chalmers and neuroscientist Christof Koch made a bet in 1998 on a breakthrough in consciousness research within 25 years. Now the bet is settled – thanks to the journalist Per Snaprud, neuroscience editor at the Swedish popular science magazine Forskning \& Framsteg. Here’s a conversation that was held between the three at New York university on June 24:th 2023.

The brain is typically depicted as a complex web of neurons sending and receiving messages. But neurons only make up half of the human brain. The other half—roughly 85 billion cells—are non-neuronal cells called glia.

The most common type of glial cells are astrocytes, which are important for supporting neuronal health and activity. Despite this, most existing laboratory models of the human brain fail to include astrocytes at sufficient levels or at all, which limits the models’ utility for studying brain health and disease.

Now, Salk scientists have created a novel organoid model of the human brain—a three-dimensional collection of cells that mimics features of human tissues—that contains mature, functional astrocytes. With this astrocyte-rich model, researchers will be able to study inflammation and stress in aging and diseases like Alzheimer’s with greater clarity and depth than ever before.

It has long been known that there is a complex interplay between genetic factors and environmental influences in shaping behavior. Recently it has been found that genes governing behavior in the brain operate within flexible and contextually responsive regulatory networks. However, conventional genome-wide association studies (GWAS) often overlook this complexity, particularly in humans where controlling environmental variables poses challenges.

In a new perspective article published on February 27 in the open-access journal PLOS Biology by researchers from the University of Illinois Urbana-Champaign and Rutgers University, U.S., the importance of integrating environmental effects into genetic research is underscored. The authors discuss how failure to do so can perpetuate deterministic thinking in genetics, as historically observed in the justification of eugenics movements and, more recently, in cases of racially motivated violence.

The authors propose expanding GWAS by incorporating environmental data, as demonstrated in studies on aggression in fruit flies, in order to get a broader understanding of the intricate nature of gene-environment interactions. Additionally, they advocate for better integration of insights from animal studies into human research. Animal experiments reveal how both genotype and environment shape brain gene regulatory networks and subsequent behavior, and these findings could better inform similar experiments with people.

New research shows that nasal drops of neuropeptide Y triggers extinction of fear memories in an animal model of PTSD.

We conducted a multicenter, nested case–control study of Alzheimer’s disease biomarkers in cognitively normal participants who were enrolled in the China Cognition and Aging Study from January 2000 through December 2020. A subgroup of these participants underwent testing of cerebrospinal fluid (CSF), cognitive assessments, and brain imaging at 2-year–to–3-year intervals. A total of 648 participants in whom Alzheimer’s disease developed were matched with 648 participants who had normal cognition, and the temporal trajectories of CSF biochemical marker concentrations, cognitive testing, and imaging were analyzed in the two groups.

The median follow-up was 19.9 years (interquartile range, 19.5 to 20.2). CSF and imaging biomarkers in the Alzheimer’s disease group diverged from those in the cognitively normal group at the following estimated number of years before diagnosis: amyloid-beta (Aβ)₄₂, 18 years; the ratio of Aβ₄₂ to Aβ₄₀, 14 years; phosphorylated tau 181, 11 years; total tau, 10 years; neurofilament light chain, 9 years; hippocampal volume, 8 years; and cognitive decline, 6 years. As cognitive impairment progressed, the changes in CSF biomarker levels in the Alzheimer’s disease group initially accelerated and then slowed.

In this study involving Chinese participants during the 20 years preceding clinical diagnosis of sporadic Alzheimer’s disease, we observed the time courses of CSF biomarkers, the times before diagnosis at which they diverged from the biomarkers from a matched group of participants who remained cognitively normal, and the temporal order in which the biomarkers became abnormal. (Funded by the Key Project of the National Natural Science Foundation of China and others; ClinicalTrials.gov number, NCT03653156. opens in new tab.)