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Novel ATXN10 Repeat Motif Patterns in Peruvian Families Modify Disease Onset

This study used a novel multiplex 20-gene panel with Cas9-targeted, amplification-free long-read sequencing and optical genome mapping to elucidate ATXN10 repeat motif patterns and investigated genotype-phenotype correlations in index cases of 6 multigenerational spinocerebellar ataxia type 10 kindreds from Peru.

Spinocerebellar ataxia type 10 (SCA10, Online Mendelian Inheritance in Man (OMIM)# 603516) is a rare autosomal-dominant disorder caused by an expanded pentanucleotide repeat in the ATXN10 gene on chromosome 22q13.3.1 Although rare globally, SCA10 accounts for 45% of spinocerebellar ataxia cases in Peru, where the population is approximately 70% Amerindian.2,3

A typical ATXN10 allele has 10–32 ATTCT repeats. Intermediate alleles from 280 to 850 repeats may have reduced penetrance4 while alleles over 850 repeats result in full disease penetrance.5 In our recent study on ATXN10 expansions in healthy Peruvians, we found expanded alleles in 3.7% of Mestizos and 9.9% of Indigenous American nonataxic individuals.6

Conventional methods fail to accurately determine ATXN10 repeat size and structure: Southern blot often overestimates repeats while repeat-primed PCR cannot measure repeats over 1,250 bp or detect alternate repeats without specific repeat primers.7

Why the human brain matures slower than its primate relatives

The human brain is a fascinating and complex organ that supports numerous sophisticated behaviors and abilities that are observed in no other animal species. For centuries, scientists have been trying to understand what is so unique about the human brain and how it develops over the human lifespan.

Recent technological and experimental advances have opened new avenues for neuroscience research, which in turn has led to the creation of increasingly detailed descriptions of the brain and its underlying processes. Collectively, these efforts are helping to shed new light on the underpinnings of various neuropsychiatric and neurodevelopmental disorders.

Researchers at Beijing Normal University, the Changping Laboratory and other institutes have recently set out to study both the human and macaque brain, comparing their development over time using various genetic and molecular analysis tools. Their paper, published in Nature Neuroscience, highlights some key differences between the two species, with the human pre-frontal cortex (PFC) developing slower than the macaque PFC.

Detecting the hidden magnetism of altermagnets

Altermagnets are a newly recognized class of antiferromagnets whose magnetic structure behaves very differently from what is found in conventional systems. In conventional antiferromagnets, the sublattices are linked by simple inversion or translation, resulting in spin-degenerate electronic bands. In altermagnets, however, they are connected by unconventional symmetries such as rotations or screw axes. This shift in symmetry breaks the spin degeneracy, allowing for spin-polarized electron currents even in the absence of net magnetization.

This unique property makes altermagnets exciting candidates for spintronic technologies, a field of electronics that utilizes the intrinsic spin of the electrons, rather than just their charge, to store and process information. As spins can flip or switch direction extremely quickly, materials that allow spin-dependent currents could enable faster and more energy-efficient electronic devices.

Researchers Unveil a 4D Blueprint of the Human Genome

In a major step toward understanding how the physical form of DNA shapes human biology, researchers at Northwestern University working with the 4D Nucleome Project have created the most comprehensive maps yet of the genome’s three-dimensional organization over time and space. The work is described in a new study published in Nature.

The research, based on experiments in human embryonic stem cells and fibroblasts, provides an expansive picture of how genes interact with one another, fold into complex structures, and shift their positions as cells carry out normal functions and divide. The study was co-led by Feng Yue, the Duane and Susan Burnham Professor of Molecular Medicine in the Department of Biochemistry and Molecular Genetics.

“Understanding how the genome folds and reorganizes in three dimensions is essential to understanding how cells function,” said Yue, who is also director of the Center for Advanced Molecular Analysis and founding director of the Center for Cancer Genomics at the Robert H. Lurie Comprehensive Cancer Center of Northwestern University. “These maps give us an unprecedented view of how genome structure helps regulate gene activity in space and time.”

Deterministic Formation of Single Organic Color Centers in Single-Walled Carbon NanotubesClick to copy article linkArticle link copied!

Quantum light sources using single-walled carbon nanotubes show promise for quantum technologies but face challenges in achieving precise control over color center formation. Here, we present a novel technique for deterministic creation of single organic color centers in carbon nanotubes using in situ photochemical reaction. By monitoring discrete intensity changes in photoluminescence spectra, we achieve precise control over the formation of individual color centers. Furthermore, our method allows for position-controlled formation of color centers as validated through photoluminescence imaging. We also demonstrate photon antibunching from a color center, confirming the quantum nature of the defects formed. This technique represents a significant step forward in the precise engineering of atomically defined quantum emitters in carbon nanotubes, facilitating their integration into advanced quantum photonic devices and systems.

Dan Ives On Why 2026 Is The Start Of Tesla’s $3 Trillion AI Chapter

Tesla is poised to reach a $3 trillion valuation by 2026, driven by its advancements in AI, autonomous vehicles, and robotics, which are expected to outweigh its challenges in EV sales and regulatory pressures ## Questions to inspire discussion.

Autonomous Driving Deployment Timeline.

🚕 Q: What are Tesla’s specific robotaxi deployment targets for 2026?

A: Tesla aims to launch robotaxis without safety drivers in 30 cities by 2026 while significantly expanding geo-fenced areas in cities like Austin, leveraging its 10 million cars on the road to scale autonomy faster than competitors through superior data collection advantage.

🎯 Q: What evidence do investors need to see in 2026 to validate Tesla’s autonomous strategy?

A: Investors must see city-by-city proof of autonomous accuracy, achievement of true level 5 autonomy, measurable regulatory progress, and rapid scaling capability across multiple markets to confirm the long-term bullish thesis.

Continue reading “Dan Ives On Why 2026 Is The Start Of Tesla’s Trillion AI Chapter” | >

Scientists found a way to restore brain blood flow in dementia

A new study suggests that dementia may be driven in part by faulty blood flow in the brain. Researchers found that losing a key lipid causes blood vessels to become overactive, disrupting circulation and starving brain tissue. When the missing molecule was restored, normal blood flow returned. This discovery opens the door to new treatments aimed at fixing vascular problems in dementia.

Chasing the New DragonToxic Spongiform Leukoencephalopathy With Chronic Fentanyl Inhalation

Toxic spongiform: leukoencephalopathy with chronic fentanyl inhalation.

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