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AI Tool Sets New Standard in Diagnosing Rare Diseases

A new system, which consists of a large LLM and a network of agentic tools, outperformed several other models and human physicians [1].

Too rare to easily diagnose

Rare diseases can be notoriously hard to diagnose. Patients average over 5 years to receive a correct diagnosis, enduring repeated referrals, misdiagnoses, and unnecessary interventions in what is known in rare disease medicine as ‘the diagnostic odyssey’ [2]. These rare diseases, defined as conditions affecting fewer than 1 in 2000 people, collectively impact over 300 million people worldwide. About 7,000 distinct disorders of this type have been identified, with 80% of them being genetic in origin [3].

Modeling lipid homeostasis using stable isotope tracing and flux analysis

Online now: Wessendorf-Rodriguez et al. develop a pipeline for applying metabolic flux analysis to quantify lipid homeostasis. Lipid-MFA elucidates differences in synthesis and salvage fluxes in precision-cut lung slices harboring tumors with common driver mutations of lung adenocarcinoma. Application of Lipid-MFA reveals distinct trafficking of ceramide species into the sphingolipidome.

Convergence of aging- and rejuvenation-related epigenetic alterations on PRC2 targets

Rejuvenation of tissues in physiologically aging mice can be accomplished by long-term partial reprogramming via expression of reprogramming factors (Oct4, Sox2, Klf4, and c-Myc). To investigate the epigenetic determinants of partial reprogramming-mediated rejuvenation, we used whole-genome bisulfite sequencing to carry out unbiased comprehensive profiling of DNA methylation changes in skin from mice subjected to partial reprogramming, as well as young and untreated old controls. We found a striking convergence of age- and rejuvenation-related epigenetic alterations on targets of the Polycomb repressive complex 2 (PRC2), with increased DNA methylation level and entropy over these regions. Native ChIP demonstrated extensive loss of H3K27me3 in aged epidermis compared to young, partially overlapping regions with age- and rejuvenation-related DNA methylation changes. In addition, large H3K9me2-marked “LOCK” heterochromatin domains defined the boundaries for hypomethylated highly entropic regions during aging. These results are also supported by a likewise prominent enrichment of PRC2 targets in gene expression data, suggesting that PRC2 activity can modulate aging and mediate tissue rejuvenation.

Electricity creates consciousness

Are we thinking about consciousness in the wrong way?

Nick Lane is an multi-award-winning biochemist and an outstanding science communicator in the origins of life field. He is a Professor of Evolutionary Biochemistry at University College London.

Tap the link to watch his talk now.

How could calcium ions rushing through a membrane generate the taste of coffee, the smell of a rose or the feeling of love? Join celebrated biochemist, Nick Lane, as he argues that the deep logic of life is at root an electrical phenomenon.’His theories are ingenious, breathtaking in scope, and challenging in every sense’ — The Guardian.

Radiation dose constraints for organs at risk in neuro-oncology; the European particle therapy network consensus

Case report: radiation-induced optic neuropathy following radiation therapy for a recurrent tuberculum sellae meningioma: a case report

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Prior to the first surgery, the patient experienced progressive visual loss, resulting in a visual acuity of 20/200 in her right eye, and visual field loss in the temporally and lower 2 quadrants. Her vision was described as normal in the left eye prior to surgery. Visual function improved after surgery, and after 3 months visual acuity in the patient’s right eye was assessed to be 20/40. Despite the successful initial surgery, a tumor recurrence was detected 4 years later. At this time point, the patient had reduced vision and a progressive visual field loss in her right eye. After the second surgery, her visual acuity was 20/60 in her right eye and 20/22.5 in the left eye. The right visual field was substantially reduced, especially in the lower 2 quadrants.

Based on recurrent disease, high probability of microscopic residual tumor remnants, and progressive loss of visual function, the patient was offered postoperative radiation therapy delivered with photons. Radiation therapy was administered 4 months following the last surgical procedure, and a conservative fractionation of 1.8 Gy in 29 fractions, with a total dose of 52.2 Gy, was chosen to keep anterior visual pathway doses below what is considered safe (Table 1) according to the European Particle Therapy Network Consensus. These standards recommend doses below 55 Gy to 0.03 cm3 (D 0.03cc) to the chiasm and the optic nerves.1 For the chiasm, the maximum dose (D max) was 53.7 Gy and the mean dose (D mean) was 51.7 Gy. The right optic nerve had a D max of 53.3 Gy and a D mean of 48.8 Gy, whereas the left optic nerve had a D max of 52.3 Gy and a D mean of 30.5 Gy. Radiation therapy dose distribution is shown in Figure 3. After radiation therapy, the patient reported minor improvement in visual function. Unfortunately, 7 to 8 months later her visual function again deteriorated over only a few weeks. Both eyes were affected, and deterioration was most pronounced in her left eye, with only finger counting possible and nearly total visual field loss. In the right eye, visual acuity was 20/60, with a substantially reduced visual field, especially in the lower 2 quadrants.

RION is primarily a diagnosis of exclusion, with tumor recurrence being the most important differential diagnosis. Tumor progression often results in a slower course of visual loss than RION.2 The patient’s vision loss was painless and rapid in onset, and radiological findings were bilateral and not consistent with neoplastic progression. Although MRI findings are nonspecific in RION-affected patients, neuro-ophthalmological examinations and clinical course/timing pointed to RION as the most likely cause of the patient’s visual loss. Systemic steroids in high doses were administered for 2 weeks before gradual tapering off, without any improvement in visual function. As a last effort to improve visual function, it was decided to try bevacizumab 7.5 mg/kg every 3 weeks. Treatment was well tolerated, with no reported side effects.

Radiation-Induced Optic Neuropathy Following Radiation Therapy for a Recurrent Tuberculum Sellae Meningioma: A Case Report

A new light-based imaging approach has produced an unprecedented chemical map of the Alzheimer’s brain.

Rice University researchers have produced what they describe as the first full, label-free molecular atlas of an Alzheimer’s brain in an animal model. In simple terms, they created a brain-wide “chemical map” that can help scientists study where the disease appears to take hold and how it spreads over time. Alzheimer’s is also a major public health threat, killing more people than breast cancer and prostate cancer combined.

Instead of focusing only on classic pathology markers, the team examined the brain’s underlying chemistry using a light-based imaging approach paired with machine learning. Their study, published in ACS Applied Materials and Interfaces, shows that Alzheimer’s-linked chemical shifts are patchy across the brain rather than uniform. It also suggests those shifts extend beyond amyloid plaques, the best-known feature of the disease.

A neurobiological perspective on prolonged grief disorder

The neurobiology of why some brains cannot move on from loss.

Prolonged grief disorder (PGD) is a psychiatric condition that describes individuals who experience persistent grief reactions characterized by preoccupation with the loss. This review provides an overview of the evidence on neurobiological processes associated with PGD. We propose that, although the neurobiological circuitry of PGD overlaps with that of anxiety and depression, it also involves neural responses that reflect the distinct symptom profiles of people with PGD. Specifically, while recruitment of cognitive control and salience networks is observed across common mental disorders, there is evidence that aberrant neural processes implicated in reward processes and appetitive functions are somewhat distinctive to PGD.

Chemists synthesize first stable copper metallocene complex, closing a 70-year gap

Almost half a century ago, a remarkable molecule called metallocene took center stage in chemistry, earning Geoffrey Wilkinson and Ernst Otto Fischer the Nobel Prize. These organic compounds, made of a transition metal “sandwiched” between two flat, ring-shaped organic layers, have since become an integral part of new-age polymers, materials, and pharmaceuticals.

In their recent work published in the Journal of the American Chemical Society, a team from University of California brought metallocene back into the limelight with the synthesis of cuprocenes—the first stable version of neutral copper metallocene with the chemical formula Cpttt 2 Cu where Cpttt stands for C5H2tBu3 or bis(tri-tert-butylcyclopentadienyl) ligand. This new complex of copper has blue-green crystals and is stable at room temperature, away from light.

They also produced two new forms of cuprocene: a colorless, negatively charged version via reduction, and a purple, positively charged version via oxidation.

Living tissues are shaped by self-propelled topological defects, biophysicists find

With a new mathematical model, a team of biophysicists has revealed fresh insights into how biological tissues are shaped by the active motion of structural imperfections known as “topological defects.” Published in Physical Review Letters, the results build on our latest understanding of tissue formation and could even help resolve long-standing experimental mysteries surrounding our own organs.

Topological defects are structural imperfections that emerge in systems hosting multiple, incompatible configurations of particles. They can be found in many different kinds of systems—both natural and manmade—but are especially important for describing “active fluids,” which are composed of particles that constantly harvest energy from their surroundings and convert it into motion, generating their own propulsion.

This behavior also underpins the physics of liquid crystal displays, where topological defects emerge in 2D systems of rod-shaped molecules and help determine how light is modulated to produce the images and colors we see every day on our phones, laptops, and TV screens.

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