For over a century, biologists have had to contend with a complicated picture of genetics, which they’ve only recently begun to understand.
UCLA Health researchers have published the largest-ever study of families with at least two children with autism, uncovering new risk genes and providing new insights into how genetics influence whether someone develops autism spectrum disorder.
The new study, published July 28 in the Proceedings of the National Academy of Sciences, also provides genetic evidence that language delay and dysfunction should be reconsidered as a core component of autism.
Most genetic studies of autism have focused on families with one child affected by the neurodevelopmental disorder, sometimes excluding families with multiple affected children. As a result, few studies have examined the role of rare inherited variation or its interaction with the combined effect of multiple common genetic variations that contribute to the risk of developing autism.
Every person starts as just one fertilized egg. By adulthood, that single cell has turned into roughly 37 trillion cells, many of which keep dividing to create the same amount of fresh human cells every few months.
But those cells have a formidable challenge. The average dividing cell must copy — perfectly — 3.2 billion base pairs of DNA, about once every 24 hours. The cell’s replication machinery does an amazing job of this, copying genetic material at a lickety-split pace of some 50 base pairs per second.
Materials possessing both strength and lightness have the potential to enhance everything from automobiles to body armor. But usually, the two qualities are mutually exclusive. However, researchers at the University of Connecticut, along with their collaborators, have now crafted an incredibly strong yet lightweight material. Surprisingly, they achieved this using two unexpected building blocks: DNA
DNA, or deoxyribonucleic acid, is a molecule composed of two long strands of nucleotides that coil around each other to form a double helix. It is the hereditary material in humans and almost all other organisms that carries genetic instructions for development, functioning, growth, and reproduction. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).
An expert on aging thinks humans could live to be 1,000 years old—with a few tweaks to our genetic “software”.
Recent developments in various domains have led to a growing interest in the potential of artificial intelligence to enhance our lives and environments. In particular, the application of artificial intelligence in the management of complex human diseases, such as cancer, has garnered significant attention. The evolution of artificial intelligence is thought to be influenced by multiple factors, including human intervention and environmental factors. Similarly, tumors, being heterogeneous and complex diseases, continue to evolve due to changes in the physical, chemical, and biological environment. Additionally, the concept of cellular intelligence within biological systems has been recognized as a potential attribute of biological entities. Therefore, it is plausible that the tumor intelligence present in cancer cells of affected individuals could undergo super-evolution due to changes in the pro-tumor environment. Thus, a comparative analysis of the evolution of artificial intelligence and super-complex tumor intelligence could yield valuable insights to develop better artificial intelligence-based tools for cancer management.
Tumor evolution refers to the changes that occur in a cancerous tumor over time as it grows and spreads (Hanahan and Weinberg, 2011; Lyssiotis and Kimmelman, 2017). These changes are the result of genetic mutations and changes in gene expression that can give rise to new subpopulations of cells within the tumor (Lyssiotis and Kimmelman, 2017; Balaparya and De, 2018). Over time, these subpopulations may accumulate subsequent mutations that confer enhanced survival and heightened proliferative capacity, thereby culminating in the emergence of a more formidable tumor exhibiting either heightened aggressiveness or treatment resistance (Balaparya and De, 2018; Gui and Bivona, 2022; Shin and Cho, 2023). Tumor evolution can have important implications for cancer diagnosis and treatment.
The U.S Food and Drug Administration (FDA) has approved a new drug combination for men with metastatic, castration-resistant prostate cancer (mCRPC) and certain DNA repair gene mutations, widening treatment options for this large patient population.
The androgen-receptor inhibitor enzalutamide plus the PARP inhibitor talazoparib can now be used as first-line treatment for mCRPC patients who have homologous recombination repair (HRR) gene alterations.
#MetastaticProstateCancer.
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Reactive oxygen species (ROS) are important in regulating normal cellular processes whereas deregulated ROS leads to the development of a diseased state in humans including cancers. Several studies have been found to be marked with increased ROS production which activates pro-tumorigenic signaling, enhances cell survival and proliferation and drives DNA damage and genetic instability. However, higher ROS levels have been found to promote anti-tumorigenic signaling by initiating oxidative stress-induced tumor cell death. Tumor cells develop a mechanism where they adjust to the high ROS by expressing elevated levels of antioxidant proteins to detoxify them while maintaining pro-tumorigenic signaling and resistance to apoptosis.
The biological roots of autism continue to perplex researchers, despite a growing body of studies looking at an increasing array of genetic, cellular and microbial data. Recently, scientists have homed in on a new and promising area of focus: the microbiome. This collection of microbes that inhabit the human gut has been shown to play a role in autism, but the mechanics of this link have remained awash in ambiguity.
Taking a fresh computational approach to the problem, a study published today, June 26, in Nature Neuroscience sheds new light on the relationship between the microbiome and autism. This research—which originated at the Simons Foundation’s Autism Research Initiative (SFARI) and involved an innovative reanalysis of dozens of previously published datasets—aligns with a recent, long-term study of autistic individuals that centered on a microbiome-focused treatment intervention. These findings also underscore the importance of longitudinal studies in elucidating the interplay between the microbiome and complex conditions such as autism.
“We were able to harmonize seemingly disparate data from different studies and find a common language with which to unite them. With this, we were able to identify a microbial signature that distinguishes autistic from neurotypical individuals across many studies,” says Jamie Morton, one of the study’s corresponding authors, who began this work while a postdoctoral researcher at the Simons Foundation and is now an independent consultant. “But the bigger point is that going forward, we need robust long-term studies that look at as many datasets as possible and understand how they change when there is a [therapeutic] intervention.”
This is older but this is just the tip of the iceberg. China is rumored to be working on genetic engineering to create “super soldiers” and they’re one country that isn’t stopped by ethics concerns. In the Prime TV series “The peripheral” it has something similar and I don’t want to spoil it beyond that. I think there’s a Vin Diesel movie called Blood Shot where he’s made into a super soldier. It’s a shame that this is used for warfare but the plus side is it’ll, some of the tech, will make its way down to civilian life such as the Internet did.
