Targeting Allele-Specific Faulty MRNA In SCNA2 Mutation Patients

July 23, 2026 by Maya Posch 1 Comment

When an individual is born with genetic defects, there are a few ways to deal with the impact of the faulty genes. The most extreme solution is direct DNA editing to repair the mutation, while the treatment of symptoms with medication is the least invasive, though this comes with its own set of disadvantages. Antisense therapy keeps a middle ground here, by targeting the messenger RNA (mRNA) that forms the bridge between DNA and the translation into a functional protein by the ribosome.

In a recent study by [Olivia Kim-McManus] et al. antisense therapy with an allele-specific feature was demonstrated in two individuals with SCN2A mutations. These mutations had resulted in severe epilepsy and developmental disorders, due to how instrumental this gene is for normal functioning of the human central nervous system (CNS) where it regulates the initiation of action potentials.

Although SCN2A mutations are rarely inherited, for the approximately 1 in 80,000 affected the consequences can be quite dramatic. The two major types of mutations are classified as gain-of-function (GoF) and loss-of-function (LoF) with respectively hyper- and hyposensitivity of the resulting NA_v1.2 sodium channels.

This translates especially in the case of GoF mutations into various symptoms, ranging from mild to severe (daily) epileptic attacks starting as an infant, stalled neurodevelopment and various types of autism (ASD). Often sodium channel blockers are prescribed for the GoF cases to limit epileptic attacks.

Usually with the responsible mutations only a single copy of the gene is affected, so while regular antisense therapy could be used, this would risk also modifying the healthy SCN2A mRNA copy. To get around this, an individualized treatment was developed, targeting the allele with the mutated gene for the two patients in the study: 9- and 14-year old boys with severe developmental and epileptic encephalopathies (DEE) that had left them with daily seizures and despite sodium-channel blockers and other typical medications.

Study outcome of the 14-year old boy with DEE after ASO therapy. (Credit: Kim-McManus et al., Nature Medicine, 2026)

During the trial, the 9-year old boy received 12 doses over 24 months of antisense oligonucleotides (ASOs) adapted to his affected allele, allowing for the cessation of the anti-seizure medication phenytoin, with an overall reduction in seizures. In the case of the 14-year old boy 8 doses were administered over 16 months, resulting in an average of two seizures a day being reduced to zero.

Although the focus of the study was on treating these seizures, by addressing the underlying cause of faulty mRNA transcriptions, changes in the neurodevelopmental state could also be observed. In particular language and motor skills improved, with erratic and irritable behavior reducing. The by then 15-year year old boy was able to walk unassisted, showing clear progression from the previous infantile state.

The advantage of ASOs over typical anti-seizure medication is of course that it directly addresses the faulty mRNA and thus the resulting faulty sodium channels. Since ASOs tend to hang around in a cell for a considerable amount of time, they could be quite a viable alternative treatment even for less severe cases. Whether early application of individualized ASOs in affected infants could lead to a more or less normal neurodevelopment would also be an interesting study question.

Naturally, directly addressing the faulty gene or upregulating the healthy gene would be the ideal and permanent solution, with research here also underway in mice models with the use of CRISPR-based tools.

V Formation Flying Of Birds Is Explained By A Minimal Wake–Vortex Model

July 22, 2026 by Maya Posch 11 Comments

Although it’s commonly suspected that migratory birds fly in a ‘V’ formation due to this saving energy for the birds in the slipstream, understanding the exact aerodynamics behind this and how it affects the way that the birds use their wings to maintain this optimal pattern. After all, unlike airplanes and cars, our feathered avian dinosaur friends need to flap their wings if they want to have any chance of staving off plummeting back to Earth. Recent research by Brown University researchers now have provided a simulated model that answers many questions.

The major question was how this would work in the up- and down-wash zones created in this type of formation, with every bird following the lead bird dealing with the vortices created by the flapping of the wings of the bird before them. These wake vortices are quite complex, and thus required careful modelling to make sense of them.

As described in the paper by [Olivia Pomerenk] et al., the model is based on northern bald ibises, taking into account live-bird measurements for validation of the model. The main effect that can be observed is a reduced flapping amplitude, leading to an 11% energy savings for the birds in the leader’s wake.

The main advantage of having such a model is of course that it provides insight into the kinematic and aerodynamic mechanisms, meaning the ability to model virtual flocks of birds, predict the efficiency of specific in-flight configurations, and apply the lessons to swarms of drones, or whatever else we want to put in the air.

Counterfeit Retro Mainboards With Fake AGP Slots Are A Thing

July 21, 2026 by Maya Posch 29 Comments

Sometimes that retro gaming itch strikes, and you just have to source components for a Pentium 4 build, like [Computer Retro Bus] did recently. Unfortunately, along the way he learned that you can actually get counterfeit mainboards. Case in point the purported ‘Asrock P4i45GV’ that was purchased as the core of this Pentium 4 build, which turned out to have many issues that included a fake AGP slot.

The mainboard was bought off Facebook Marketplace, with the first sign of trouble being spotty GPU support for the AGP slot, and an inability to install a driver for a card that seemed to work. Following this, issues with the installed Soundblaster soundcard popped up, with the use of Windows ME as OS being of course a factor, but even ME is generally not this sketchy.

Warning on fake AGP slot on genuine Asrock mainboard. (Credit: The Retro Web)

At some point he decided to actually dig into this Socket 478 mainboard that he had purchased, only to find out that there was a reason why there were no real markings on it. After an image search it turned out to be a clone of the aforementioned Asrock mainboard, including the original’s ‘feature’ of connecting the ‘AGP’ slot to the PCI bus. This explained why only the AGP GPUs that are compatible with PCI worked with this mainboard, as it’s actually Asrock’s ‘AGI’ slot.

Effectively just a way to scam buyers into believing that they bought a mainboard with an AGP slot when it was just a regular PCI slot cosplaying as an AGP slot. This doesn’t just mean lower speeds and spotty support with AGP cards, but also also potentially dead GPUs, as this mainboard inherited the same 3.3V-only card support.

Unlike PCI slots that are keyed for 3.3/5V voltage support, AGP slots are keyed for either 3.3V or 1.5V, or no key for universal support. These ‘AGI’ slots are sadly keyed for 1.5V AGP cards and thus will expose 1.5V-only AGP cards to potentially fatal voltages.

On the bright side, these are at least genuinely old mainboards, using the same AGP-less Intel chipsets, made back in the day to sell to unsuspecting buyers. Clearly the pain that these fake boards as well as genuine Asrock boards that these ripped off caused back in the day continues in 2026. Caveat Emptor, as they say.

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Giving Resin 3D Printers Another Shot After Six Years

July 21, 2026 by Maya Posch 26 Comments

My initial experience with a 3D printer came in 2020, when I got access to a buddy’s Creality LD-002R SLA printer. This was one of those awkward transition phases for SLA printers, where inefficient RGB LCDs finally got replaced by monochrome LCD panels, thus massively reducing the required exposure time and increasing the LCD panel’s lifespan.

The closely related Creality LD-002H is a monochrome SLA printer, but as this wasn’t the one that this friend opted for we had to learn the ropes on this more old-school printer. In terms of specifications this meant a build volume of 119 mm x 65 mm x 160 mm to play with and a claimed 26.1 µm resolution. Despite some struggles along the way, this machine churned out impressively high levels of detail with whatever cheap resin we threw at it, and even the post-printing processing became easy once we added a flex plate to the build plate and tweaked the cleaning and curing steps.

Despite all these positives, we both drifted away from resin printing, mostly due to the still messy and smelly printing process. FDM printers seemed like a better deal, especially after said buddy got his mittens on a used IDEX FDM printer. I would eventually go through a rather loathsome Creality Ender V2 experience before ending up with my current-day Elegoo Neptune 4, and resin printing seemed to be a thing of the past for me. Until recently, that is.

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Java Ring Restored After Nearly 30 Years

July 21, 2026 by Maya Posch 21 Comments

Back in the late 90s when absolutely everybody knew that Java was going to become the one programming language to rule them all, the Java Ring was handed out to folks at Java developer conferences as an example of how it was going to revolutionize smart wearable devices. Recently [Daisuke Yamazaki] got his mittens on one of these collector’s items to see about reviving it.

We talked about these rings and associated iButton devices before, with their intended use being primarily to act as authentication keys. For the Java Ring, this use was mostly just used as a kind of gag, whereby visitors to these conferences could specify their coffee preferences at a terminal, having this programmed into the ring so that they could get their desired cup of literal java at various bean juice dispensers around the conference site.

Talking to one of these iButton devices requires a so-called Blue Dot adapter, which [Yamazaki-san] purchased along with the ring. Although the device happily responded on the 1-wire bus, figuring out how to interact with the original Java-based firmware and answering the question of how much of the original information of someone’s coffee preferences in ’98 were retained would require more sleuthing.

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Detection Of A Four-Carbon Sugar In Interstellar Space

July 20, 2026 by Maya Posch 5 Comments

Although life tends to find a way, something first has to kickstart said lifeforms. Exactly how the first biological cells formed on Earth – and potentially on other worlds – remains an enduring mystery. Some theories point to the early Earth’s surface conditions as a viable laboratory for the self-assembly of the first viable membranes, RNA, DNA and associated molecular machinery, while seeding of the Earth’s primitive atmosphere by sugars and other precursors from asteroids and kin is required in other theories.

Recently [Izaskun Jiménez-Serra] et al. added to this debate with the reported detection of four-carbon sugars in the form of erythrulose in the interstellar medium. Using the 40 meter radio telescope at Yebes and the 30 meter radio telescope at Granada the signatures of this sugar was detected in a molecular cloud near the center of the Milky Way.

These sugars likely form on these interstellar dust grains from more basic two-carbon aldehydes and alcohols, with them providing conceivably a source of energy for early metabolic processes of developing lifeforms. This specific type of sugar is highly prevalent in Earth’s fruits, and thus its prevalence in interstellar space is at the very least an interesting coincidence, if not another puzzle piece in the overarching question of abiogenesis.

Earth-like LHS 1140b May Feature The First Atmosphere Found On Exoplanet

July 20, 2026 by Maya Posch 14 Comments

Finding another planet outside of our solar system that can comfortably be called ‘Earth-like’ is one of those discoveries that — if confirmed — would be a major event. The complication here is that with every exoplanet that we discover through observations, determining the type of planet is hard enough, never mind figuring out whether it has an atmosphere, much less what’s in that atmosphere. This makes a recent report on LHS 1140 b rather exciting, as it strongly suggests that this super-Earth may have something close to an Earth-like atmosphere.

In the paper by [Collin Cherubim] and others in Science, the findings of helium occasionally escaping from its atmosphere have led to considerable excitement, as this time-variable atmospheric escape of helium suggests a helium-rich upper atmosphere that’s further depleted in hydrogen.

It should be noted, of course, that these assumptions are based on observations from roughly 49 light-years away, so there’s always some room for later adjustments. Even if confirmed, the star that LHS 1140b orbits is a red dwarf, with a nearly 25-day orbital period and light levels less than half of what Earth receives from the Sun. This would make the surface of LHS 1140b with its proposed oceans rather dim, even if it’s conceivably at temperatures well within the comfort range of us Earth-based mammals.

At 49 light-years distance, it’s also not close enough that — barring an FTL drive — we could do direct observations or visitations, but if these results hold, it’d be on the short list along with a number of other plausibly habitable exoplanets to check out once we build that first warp drive-powered starship.