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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.”

Watch some of the biggest names in physics debate the mysteries of the quantum and its future, including Roger Penrose, Sabine Hossenfelder, Avshalom Elitzur, Michio Kaku, Suchitra Sebastian, Priya Natarajan, Joscha Bach, Erik Verlinde, Hilary Lawson and Bjørn Ekeberg.

From string theory to quantum gravity and quantum computers, the quantum discourse is all the buzz in physics and beyond. But what is possible and what mere fantasy? Can we bring together relativity and quantum mechanics? Will we ever find a unified theory to explain our universe?

Continue reading “The quantum world: Dreams and delusions | Roger Penrose, Sabine Hossenfelder, Michio Kaku, and more!” »

One of the immune system’s primary roles is to detect and kill cells that have acquired cancerous mutations. However, some early-stage cancer cells manage to evade this surveillance and develop into more advanced tumors.

A new study from MIT and Dana-Farber Cancer Institute has identified one strategy that helps these precancerous cells avoid immune detection. The researchers found that early in colon cancer development, cells that turn on a gene called SOX17 can become essentially invisible to the immune system.

If scientists could find a way to block SOX17 function or the pathway that it activates, this may offer a new way to treat early-stage cancers before they grow into larger tumors, the researchers say.

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.

Finding raises hopes that antibiotics could treat some genetic diseases that can cause blindness — but also prompts doubts.

https://www.youtube.com/watch?v=tFx_UNW9I1U&si=QxOgeE59dOkGDFck

This definitely is a Lifeboat post embodying what Lifeboat is about, and it’s only about AI. They did a really good job explaining the 10 stages.

This video explores the 10 stages of AI, including God-Like AI. Watch this next video about the Technological Singularity: • Technological Singularity: 15 Ways It…
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A new study from a team of McGill University and Vanderbilt University researchers is shedding light on our understanding of the molecular origins of some forms of autism and intellectual disability.

For the first time, researchers were able to successfully capture atomic resolution images of the fast-moving ionotropic glutamate receptor (iGluR) as it transports calcium. iGluRs and their ability to transport calcium are vitally important for many brain functions such as vision or other information coming from sensory organs. Calcium also brings about changes in the signaling capacity of iGluRs and nerve connections, which are key cellular events that lead to our ability to learn new skills and form memories.

IGluRs are also key players in brain development and their dysfunction through genetic mutations has been shown to give rise to some forms of autism and intellectual disability. However, basic questions about how iGluRs trigger biochemical changes in the brain’s physiology by transporting calcium have remained poorly understood.

Researchers report in the journal Cell that ancient viruses may be to thank for myelin—and, by extension, our large, complex brains.

The team found that a retrovirus-derived genetic element or “retrotransposon” is essential for myelin production in mammals, amphibians, and fish. The gene sequence, which they dubbed “RetroMyelin,” is likely a result of ancient viral infection, and comparisons of RetroMyelin in mammals, amphibians, and fish suggest that retroviral infection and genome-invasion events occurred separately in each of these groups.

“Retroviruses were required for vertebrate evolution to take off,” says senior author and neuroscientist Robin Franklin of Altos Labs-Cambridge Institute of Science. “If we didn’t have retroviruses sticking their sequences into the vertebrate genome, then myelination wouldn’t have happened, and without myelination, the whole diversity of vertebrates as we know it would never have happened.”

Investigators identified 15 factors that affect risk for young-onset dementia.

Limited data are available on risk factors for young-onset dementia. In this study, researchers assessed 39 potential risk factors for young-onset dementia from data in the UK Biobank. Participants 65 years of age or older without a dementia diagnosis were included in the analysis. Potential risk factors were grouped into sociodemographic factors, genetic factors, lifestyle factors, environmental factors, blood marker factors, cardiometabolic factors, psychiatric factors, and other risk factors.

Among 359,052 participants, the mean age at baseline was 55 years and 55% were women. There were 485 incident all-cause young-onset dementia cases after a mean follow-up of 8 years. Incident young-onset dementia increased with age and was more common in men. Fewer years of formal education, lower socioeconomic status, the presence of two apolipoprotein E ℇ4 alleles, no alcohol use, alcohol use disorder, social isolation, vitamin D deficiency (1 mg/dL), lower handgrip strength, hearing impairment, orthostatic hypotension, stroke, diabetes, heart disease, and depression were associated with higher risk for young-onset dementia in fully adjusted models. Men with diabetes were more likely to have young-onset dementia than men without diabetes, and women with high C-reactive protein were more likely to have young-onset dementia than women with low C-reactive protein levels.

Continue reading “Risk Factors for Young-Onset Dementia” »