A giemsa stained blood smear from a person with beta thalassemia (Credit: Dr Graham Beards, Wikimedia Commons)

First CRISPR-Based Therapies For Sickle Cell Disease And Beta Thalassemia Approved In The UK

November 19, 2023 by Maya Posch 20 Comments

The gene-therapy-based treatment called Casgevy was recently approved in the UK, making it the first time that a treatment based on the CRISPR-Cas9 gene editing tool has been authorized for medical treatments. During the clinical trials, a number of patients were enrolled with either sickle cell disease (SCD) or β thalassemia, both of which are blood disorders that affect the production of healthy red blood cells. Of the 45 who enrolled for the SCD trial, 29 were evaluated in the initial 12-month efficacy assessment, with 28 of those found to be still free of the severe pain crises that characterizes SCD. For the β thalassemia trial, 42 patients were evaluated and 39 were still free of the need for red blood cell transfusions and iron chelation after the 12-month period, with the remaining three showing a marked reduction in the need for these.

Both of these blood disorders are inherited via recessive genes, meaning that in the case of SCD two abnormal copies of the β-globin (HBB) gene are required to trigger the disorder. For β thalassemia a person can be a carrier or have a variety of symptoms based on the nature of the two sets of mutated genes that involve the production of HbA (adult hemoglobin), with the severest form (β thalassemia major) requiring the patient to undergo regular transfusions. Both types of conditions have severe repercussions on overall health and longevity, with few individuals living to the age of 60.

The way that the Casgevy treatment works involves taking stem cells out of the bone marrow of the patient, after which the CRISPR-Cas9 tool is used to target the BCL11A gene and cut it out completely. This particular gene is instrumental in the switch from fetal γ globin (HBG1, HBG2) to adult β globin form. Effectively this modification causes the resulting cells to produce fetal-type hemoglobin (HbF) instead of adult HbA which would have the mutations involved in the blood disorder.

For the final step in the treatment, the modified stem cells have to be inserted back into the patient’s bone marrow, which requires another treatment to make the bone marrow susceptible to hosting the new cells. After this the patient will ideally be cured, as the stem cells produce new, HbF-producing cells that go on to create healthy hemoglobin. Although safety and costs (~US$2M per patient) considerations of such a CRISPR-Cas9 gene therapy may give pause, this has to be put against the prospect of 40-60 years of intensive symptom management.

Currently, the US FDA as well as the EU’s EMA are also looking at possibly approving the treatment, which might open the gates for similar gene-therapies.

Top image: A giemsa stained blood smear from a person with beta thalassemia. Note the lack of coloring. (Credit: Dr Graham Beards, Wikimedia Commons)

Fixing Astronomy In The Blink Of An Eye

November 19, 2023 by Al Williams 37 Comments

If you’ve ever set a telescope up in your backyard, you probably learned how quick any kind of lighting ruins your observation. In fact, a recent study found that every year, about 10% of the stars that were visible the previous year disappear in the mishmash of light scattering through the atmosphere. A company called StealthTransit has a solution: blink the lights in a controlled way. They have an animated video explaining the concept.

The technology, named DarkSkyProtector, assumes there is LED lighting and that the light’s owner (or manufacturer) will put a simple device in line that causes the LED to blink imperceptibly. As you might guess, the telescope — presumably some giant observatory uses a GPS receiver to synchronize and then images only when the LED lights all turn off. That presumes, of course, that you have a significant number of lights under control.

It is hard to imagine every city and home having astronomy-safe lighting. However, we can imagine a university installing a lighting system on its campus to protect night viewing. The system underwent a test in the Caucasus mountains using a 24-inch telescope and was apparently quite successful with a shutter rate of about 150 Hz. We weren’t clear if each LED control module has to have a GPS-disciplined time source, but it seems like you’d have to. However, the post talks about how the bulbs wouldn’t cost more to make than conventional ones, so maybe they don’t have anything fancy in them.

You can see satellites in the day with some tech tricks. Want to check out observatories? Hit the road. Or, get time on a telescope with Skynet University.

Cooking With Magnets And 3D Printing

November 18, 2023 by Al Williams 9 Comments

Have you ever wondered how induction cooking works? A rotating magnetic field — electrically or mechanically — induces eddy currents in aluminum and that generates heat. When [3D Sage] learned this, he decided to try to 3D print some mechanical rigs to spin magnets so he could try cooking with them.

We doubt at all that this is practical, but we have to admit it is fun and there are some pretty impressive 3D prints in the video, too. The cook surface, by the way, is tiny, so you won’t be prepping a holiday meal on it. But there’s something super charming about the tiny breakfast on a plate produced by a printed magnetic “stove.” We would be interested to know how much power this setup consumed and how much heat was produced compared to, say, just using a big resistor to heat things up.

We’ve heard that induction heating is efficient, but this setup is a bit unconventional. If cooking things isn’t your bag, you can use induction for soldering, too.

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Additive Manufacturing Of Nickel Nanopillars Using Two-Photon Lithography

November 17, 2023 by Maya Posch No comments

The multistep, two-photon-lithography-based additive manufacturing method forms intermediate products of blank polymer, Ni-infused polymer, and NiO while fabricating Ni
nanopillars. (Credit: Zhang et al., 2023)

Manufacturing nano-sized features is rapidly becoming an essential part of new technologies and process, ranging from catalysts to photonics and nano-scale robotics. Creating these features at scale and in a reproducible manner is a challenge, with previous attempts using methods ranging from dealloying and focused ion beams to templated electrodeposition all coming with their own drawbacks. Here recent research by Whenxin Zhang and colleagues as published in Nano Letters demonstrates a method using additive manufacturing.

Specifically, nanopillars were printed in a hydrogel polymer with a laser-based lithography method called two-photon absorption which allows for a femtosecond laser to very precisely affect a small region within the targeted material with little impact on the surrounding area. This now solid and structured polymer hydrogel was then submerged into a Ni(NO₃)₂ solution to infuse it with nickel. After drying, the resulting structure had the polymer burned away in a furnace, leaving just the porous Ni nanopillars.

Subsequent testing showed that these nanopillars were more robust than similar structures created using other methods, presumably due to the less ordered internal physical structure of each pillar. Based on these results, it’s likely that the same approach could be used for other types of nano-sized structures.

Detecting Neutrinos, The Slippery Ghost Particles That Don’t Want To Interact

November 14, 2023 by Lewin Day 62 Comments

Neutrinos are some of the most elusive particles that are well-known to science. These tiny subatomic particles have no electric charge and an extremely small mass, making them incredibly difficult to detect. They are produced in abundance by the sun, as well as by nuclear reactions on Earth and in supernovae. Despite their elusive nature, scientists are keen to detect neutrinos as they can provide valuable information about the processes that produce them.

Neutrinos interact with matter so rarely that it takes a very special kind of detector to catch them in the act. These detectors come in a few different flavors, each employing its unique method to spot these elusive particles. In this article, we’ll take a closer look at how these detectors work and some of the most notable examples of neutrino detectors in the world today.

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Data Science The Stanford Way

November 12, 2023 by Al Williams 27 Comments

Data science is a relatively new term for a relatively old discipline. Essentially, it is data analysis, particularly for large data sets. It involves techniques as wide-ranging as statistics, computer science, and information theory. What to know more? Stanford has a “Data Science Handbook” that you can read online.

Topics range from how to design a study and create an analytic plan to how to do data visualization, summarization, and analysis. The document covers quite a bit but is very concise.

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Molybdenene whiskers. (Credit: Sahu et al., 2023)

Introducing Molybdenene As Graphene’s New Dirac Matter Companion

November 12, 2023 by Maya Posch 9 Comments

Amidst all the (well-deserved) hype around graphene, it’s important to remember that its properties are not unique to carbon. More atoms can be coaxed into stable 2-dimensional configuration, with molybdenene previously theoretically possible. This is now demonstrated by Tumesh Kumar Sahu and colleagues in a recent Nature Nanotechnology article, through the manufacturing of a 2D molybdenum-based material which they showed to be indeed molybdenene. Essentially, this is a 2D lattice of molybdenum atoms, a configuration in which it qualifies as Dirac matter, just like graphene. For those of us unfamiliar with Dirac materials, this gentle introduction by Jérôme Cayssol in Comptes Rendus Physique might be of use.

Manufacturing process of molybdenene. (Credit: Sahu et al., 2023)

In order to create molybdenene, the researchers started with molybdenum disulfide (MoS₂), which using a microwave-assisted field underwent electrochemical transformation into whiskers that when examined turned out to consist out of monolayers of Mo. The sulfur atoms were separated using a graphene sheet. As is typical, molybdenene sheets were exfoliated using Scotch tape, in a process reminiscent of the early days of graphene research.

Much like graphene and other Dirac materials, molybdenene has many potential uses as a catalyst, as cantilever in scanning electron microscope (SEM) tips, and more. If the past decades of research into graphene has demonstrated anything, it is that what once seemed more of a novelty, suddenly turned out to have endless potential in fields nobody had considered previously. One of these being as coatings for hard disk platters, for example, which has become feasible due to increasingly more efficient ways to produce graphene in large quantities.