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A new approach for detecting retinal disease variants at the transcript level from blood and skin cells

Using a CRISPRa-based approach, Elvir Becirovic & team activated retinal disease-related genes in isolated human cells, establishing a minimally invasive diagnostic method for inherited retinal diseases:

The fundus autofluorescence image is from a patient with confirmed ABCA4-associated retinal disease (STGD1).


1Laboratory for Retinal Gene Ther apy, Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.

2Department of Ophthalmology, LMU University Hospital, LMU Munich, Munich, Germany.

3Department of Pharmacy – Center for Drug Research, LMU Munich, Munich, Germany.

Early detection of lung cancer

Most patients with lung cancer are diagnosed when they present with symptoms, they have advanced stage disease, and curative treatment is no longer an option. An effective screening test has long been desired for early detection with the goal of reducing mortality from lung cancer. Sputum cytology, chest radiography, and computed tomography (CT) scan have been studied as potential screening tests. The National Lung Screening Trial (NLST) demonstrated a 20% reduction in mortality with low-dose CT (LDCT) screening, and guidelines now endorse annual LDCT for those at high risk. Implementation of screening is underway with the desire that the benefits be seen in clinical practice outside of a research study format. Concerns include management of false positives, cost, incidental findings, radiation exposure, and overdiagnosis.

Lung Cancer Risk Factors

Cigarette smoking is the number one risk factor for lung cancer. In the United States, cigarette smoking is linked to about 80% to 90% of lung cancer deaths. Using other tobacco products such as cigars or pipes also increases the risk for lung cancer. Tobacco smoke is a toxic mix of more than 7,000 chemicals. Many are poisons. At least 70 are known to cause cancer in people or animals.

People who smoke cigarettes are 15 to 30 times more likely to get lung cancer or die from lung cancer than people who do not smoke. Even smoking a few cigarettes a day or smoking occasionally increases the risk of lung cancer. The more years a person smokes and the more cigarettes smoked each day, the more risk goes up.

People who quit smoking have a lower risk of lung cancer than if they had continued to smoke, but their risk is higher than the risk for people who never smoked. Quitting smoking at any age can lower the risk of lung cancer.

The “impossible” LED breakthrough that changes everything

Scientists have unveiled a technique that uses ‘molecular antennas’ to direct electrical energy into insulating nanoparticles. This approach creates a new family of ultra-pure near-infrared LEDs that could be used in medical diagnostics, optical communication systems, and sensitive detectors.

Researchers at the Cavendish Laboratory, University of Cambridge have discovered how to drive electrical current into materials that normally do not conduct, a feat previously thought impossible under normal conditions. By attaching carefully chosen organic molecules that act like tiny antennas, they have built the first light-emitting diodes (LEDs) from insulating nanoparticles. Their work, reported in Nature, points toward a new generation of devices for deep-tissue biomedical imaging and high-speed data transmission.

The Next Giant Leap For AI Is Called World Models

Only world models respond to the user’s input as they navigate around the world by moving the camera, or interacting with people and objects it contains, rather than just interpreting prompts to decide what video should be generated.

Using this method, the entire world is continuously generated, frame-by-frame, based on the model’s internal understanding of how the environment and objects should behave.

This method allows the creation of highly flexible, realistic and unique environments. Imagine a video game world, for example, where literally anything can happen. The possibilities aren’t limited to situations and choices that have been written into the code by a game programmer, because the model generates visuals and sounds to match any choice the player makes.

Gene therapy improves movement in kids with spinal muscular atrophy

A single-dose gene replacement therapy is found to improve movement ability in children over 2 years of age and teenagers with spinal muscular atrophy, according to research published in Nature Medicine. The results of this phase 3 clinical trial, involving 126 children and adolescents, could support an alternative to lifelong, repeat-dose treatments for people living with spinal atrophy beyond the age of 2 years.

Spinal muscular atrophy is a rare genetic condition that causes muscle weakness and loss of movement over time. It develops because the body cannot make enough of a protein, called survival motor neuron, needed for healthy nerve cells.

Onasemnogene abeparvovec is a gene therapy that restores production of this missing protein in a single treatment. However, it is currently approved in the U.S. and Europe only as a single intravenous treatment for children under 2 years of age. Therefore, those older than 2 years of age can receive treatments only to slow the disease, and these must be taken regularly, either by injection or orally.

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