Tag: Alzheimer’s Disease
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Prunella Scales: Remembering the Fawlty Towers Icon at 93
Obituary: Prunella Scales, iconic Sybil Fawlty, dies aged 93 Prunella Scales, the beloved British actress best known for portraying Sybil Fawlty in the classic sitcom Fawlty Towers, has died at the age of 93. She passed away peacefully at home in London, surrounded by family, her sons Samuel and Joseph confirmed. Her husband of 61…
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ASHG 2025: Torino Reveals Hidden mRNA Isoforms Driving Disease-Related Gene Expression
Introduction: A New Lens on Gene Expression at ASHG 2025 The ASHG 2025 meeting in Turin spotlighted a transformative approach to understanding how genes express themselves in health and disease. Researchers from the University of Chicago and Columbia University presented Torino, a novel computational workflow that decodes transcript structures and expression levels directly from RNA…
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Torino: Revealing Hidden mRNA Isoforms Driving Disease at ASHG 2025
Torino Unveils Hidden Isoforms in Disease-Linked Gene Expression At the ASHG 2025 meeting, researchers from the University of Chicago and Columbia University presented Torino, an innovative computational workflow designed to decode transcript structures and quantify isoform expression directly from read coverage in biobank-scale RNA-seq data. This approach challenges the reliance on pre-existing transcript annotations and…
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Torino: Decoding Disease-Linked mRNA Isoforms Directly from Read Coverage
New Tool for Uncovering Hidden RNA Isoforms in Disease Research Researchers at the American Society for Human Genetics (ASHG) Annual Meeting have unveiled Torino, a groundbreaking computational workflow that reads RNA sequencing data in a new way. By leveraging biobank-scale RNA-seq datasets, Torino directly decodes transcript structures and expression levels from read coverage alone, bypassing…
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Improving Brain Resilience: Rab Proteins and Future Treatments
How Rab Proteins Orchestrate Synaptic Potentiation Memory formation hinges on synaptic potentiation—the strengthening of connections between neurons. This growth is driven by a tightly coordinated delivery system within neurons that supplies the building blocks essential for remodeling synapses. A large family of cellular switches, known as Rab proteins, governs the flow of these supplies, directing…
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Nemours Neurologist Wins NIH Award to Study Hippocampal Dysfunction Across Autism, Epilepsy, and Alzheimer’s
Nemours Neurologist Secures Prestigious NIH Transformative Research Award A leading physician-scientist at Nemours Children’s Health has been awarded a National Institutes of Health (NIH) Director’s Transformative Research Award. Rodney Scott, MBChB, MRCP, DipStat, PhD, serves as Division Chief of Neurology for the Nemours Delaware Valley region and will channel a $2.6 million, five-year grant into…
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Fetal Immune Activation Shapes Memory Aging: Sex Differences
Intro: How early brain development influences aging and memory Population aging in the United States is accelerating, with projections showing a growing share of adults aged 65 and older. While lifestyle, genetics, and health conditions influence memory in later life, mounting evidence points to prenatal periods as a foundational phase that can shape memory circuits…
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Fetal Origins of Memory Impairment: Sex Differences in Aging
Overview: How early-life factors shape memory in later life New evidence suggests that critical processes during fetal brain development can influence memory and cognitive resilience decades later. Researchers led by Jill Goldstein, PhD, MPH, from the Innovation Center on Sex Differences in Medicine at Mass General are examining how sex and reproductive history modulate the…
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Digital Test Plus Blood Biomarker Improves Primary Care Alzheimer’s Diagnosis
New Frontline Approach to Alzheimer’s Diagnosis in Primary Care A two-step strategy combining a brief, self-administered digital cognitive test with a targeted blood biomarker panel dramatically improves the accuracy of Alzheimer’s disease (AD) diagnosis in everyday clinics. The approach, validated in a recent Nature Medicine study, shows that confirming cognitive impairment before ordering amyloid blood…
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Digital test plus blood biomarker boosts accuracy of Alzheimer’s diagnosis in primary care
Two-step workflow taps cognitive screening before biomarker testing A new two-step approach to diagnosing Alzheimer’s disease (AD) in primary care shows promise for cutting false positives and streamlining referrals. Researchers tested a brief, self-administered digital cognitive battery, BioCog, first, and reserved amyloid-related blood tests for individuals who showed objective impairment. This “test-then-blood” workflow aims to…