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Dr. Alfonso Sabater pulled up two photos of Antonio Vento Carvajal’s eyes. One showed cloudy scars covering both eyeballs. The other, taken after months of gene therapy given through eyedrops, revealed no scarring on either eye.

Antonio, who’s been legally blind for much of his 14 years, can see again.

The teen was born with dystrophic epidermolysis bullosa, a rare genetic condition that causes blisters all over his body and in his eyes. But his skin improved when he joined a clinical trial to test the world’s first topical gene therapy. That gave Sabater an idea: What if it could be adapted for Antonio’s eyes?

Integrated Biosciences, a biotechnology company combining synthetic biology and machine learning to target aging, in collaboration with researchers at the University of California Santa Barbara, today announced a drug discovery platform that enables precise control of the integrated stress response (ISR), a biological pathway that is activated by cells in response to a wide variety of pathological and aging-associated conditions.

A new publication, “Optogenetic control of the integrated stress response reveals proportional encoding and the stress memory landscape,” authored by company founders and featured on the cover of Cell Systems describes a technique that triggers the ISR virtually using light and demonstrates how the accumulation of stress over time shifts a cell’s reaction from adaptation to apoptosis (programmed cell death).

“In a very real way, our platform puts cells into a virtual reality, making them experience stress in the absence of physical stressors,” said Maxwell Wilson, Ph.D., a co-founder of Integrated Biosciences and Assistant Professor of Molecular, Cellular, and Developmental Biology at the University of California Santa Barbara.

Summary: This week’s neuroscience revelations encompass intriguing findings from the enigmatic genetics of mind-controlling hairworms to the groundbreaking link between alcohol use disorders and certain neuronal plasticity genes.

A novel theory proposes that the location of memory storage in the brain depends on its generalizability rather than age, adding a new dimension to our understanding of memory management. A new AI system demonstrates an impressive ability to identify violations of social norms, promising advancements in AI capabilities.

Continue reading “Brain Bites: Top 5 Neuroscience News Articles of the Week” »

We know a lot about cancer, and yet, there is plenty we do not yet know. We do know that some cancers are genetic in nature and a series of changes in key genes can lead to identifiable malignancies down the line. We would certainly want to know what causes cancer in the first place.

Scientists have been trying to replicate the path a cell takes from being normal to becoming pre-cancerous (one of the earliest stages of cancer in which cells become abnormally shaped and sized) for quite some time now. It is a feat that requires human-derived cells to model how cancer comes to be.

Recently, researchers at The Stanford School of Medicine have been able to emulate some of the earliest stages of gastric cancer by starting with gastric organoids (a rudimentary version of the real stomach made from stem-cell-derived gastric cells) that have a single mutation. The study which was published in Nature outlines how the earliest changes in cells could be seen even before the precancerous stage.

New research provides evidence that an individual’s health behaviors and outcomes are influenced by the genetic makeup of their romantic partner. The findings, published in Behavior Genetics, indicate that your partner’s genetic tendencies can lead to changes in your own weight, smoking habits, or alcohol consumption over time.

The researchers conducted this study to investigate how a person’s partner can affect their health. They aimed to explore the concept of social genetic effects, which refers to the impact of genetic factors in one person’s environment, such as their partner’s genotype, on their own phenotype (observable characteristics or traits).

“I was mainly interested in exploring the combination of social science and genetics,” explained study author Kasper Otten of Utrecht University. “It is evident that behavior is partly genetically influenced, but much of the social sciences does not deal with this biological fact.

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Using artificial intelligence (AI) to combine data from full-body x-ray images and associated genomic data from more than 30,000 UK Biobank participants, a study by researchers at The University of Texas at Austin and New York Genome Center has helped to illuminate the genetic basis of human skeletal proportions, from shoulder width to leg length.

The findings also provide new insights into the evolution of the human skeletal form and its role in musculoskeletal disease, providing a window into our evolutionary past, and potentially allowing doctors to one day better predict patients’ risks of developing conditions such as back pain or arthritis in later life. The study also demonstrates the utility of using population-scale imaging data from biobanks to understand both disease-related and normal physical variation among humans.

“Our research is a powerful demonstration of the impact of AI in medicine, particularly when it comes to analyzing and quantifying imaging data, as well as integrating this information with health records and genetics rapidly and at large scale,” said Vagheesh Narasimhan, PhD, an assistant professor of integrative biology as well as statistics and data science, who led the multidisciplinary team of researchers, to provide the genetic map of skeletal proportions.

Summary: Researchers reveal how a fertilized egg cell, or zygote, initiates its own genetic program, a process known as zygote genome activation.

The research identifies the OBOX gene family as master-regulators, crucial for this activation. These genes instruct the enzyme RNA polymerase II to transcribe the right genes at the right time, beginning the embryo’s development.

The team suggests that the genes’ functions are redundant to ensure this critical transition occurs successfully.

Using cannabis may cause changes in the human body’s epigenome, a study of over 1,000 adults suggests. The epigenome functions like a set of switches, activating or deactivating genes to change how our bodies function.

“We observed associations between cumulative marijuana use and multiple epigenetic markers across time,” says Lifang Hou, a preventative medical doctor and epidemiologist from Northwestern University Feinberg School of Medicine.

Cannabis is a commonly used substance in the United States, with 49 percent of people trying it at least once, Hou and a team of US researchers report in their published paper. Some US states and other countries have made it legal, but we still don’t fully understand its effects on our health.