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A gene linked to autism spectrum disorders plays a critical role in early brain development and may shape the formation of both normal and atypical nerve connections in the brain, according to a new study by Weill Cornell Medicine investigators.

The study, published Nov. 28 in Neuron, employed a combination of sophisticated genetic experiments in mice and analysis of human brain imaging data to better understand why mutations in a gene called Gabrb3 are linked to a high risk of developing autism spectrum disorder (ASD) and a related condition called Angelman Syndrome. Both conditions involve abnormal behaviors and unusual responses to sensory stimuli, which appear to stem, at least in part, from the formation of atypical connections between neurons in the brain.

“Neuron al connections in the brain, and developmental synchronization of neuronal networks, are perturbed in individuals with autism spectrum disorders, and there are specific genes that are implicated in the pathogenesis of ASD,” said co-first author Dr. Rachel Babij, a former student in the Weill Cornell/Rockefeller/Sloan Kettering Tri-Institutional MD-Ph. D. program in the laboratory of Natalia De Marco García, an associate professor in the Feil Family Brain and Mind Research Institute at Weill Cornell Medicine.

For several years now, the CRISPR/Cas9 gene scissors have been causing a sensation in science and medicine. This new tool of molecular biology has its origins in an ancient bacterial immune system. It protects bacteria from attack by so-called phages, i. e. viruses that infect bacteria. Researchers from the Institute of Structural Biology at the University Hospital Bonn (UKB) and the Medical Faculty of the University of Bonn, in cooperation with the partner University of St Andrews in Scotland and the European Molecular Biology Laboratory in Hamburg, have now discovered a new function of the gene scissors. The study was published yesterday in the renowned scientific journal “Nature”.

Bacteria and phages have been engaged in a life-and-death struggle on Earth since time immemorial. When an attacking phage injects its genetic material into a bacterium, it is forced to produce new phages, which in turn infect more bacteria. Some bacteria have evolved the CRISPR system in response. With this bacterial immune system, the phage genetic material is recognized and destroyed.

At the same time, the resulting fragments are integrated into the genome of the bacterium. This creates a kind of library that the CRISPR immune system can access again and again and is thus armed for future attacks. In addition, it was discovered that so-called type III variants of the gene scissors produce small signal molecules. With the help of these small molecules, the bacteria switch on a complex emergency plan. This ensures that a virus can be combated optimally and on a broad front.

Cajal Neuroscience, a biotechnology company integrating human genetics, functional genomics and advanced microscopy to discover novel targets and therapeutics for neurodegeneration, has launched with the completion of a $96 million Series A financing.

The financing was led by The Column Group and Lux Capital, with additional participation from Two Sigma Ventures, Evotec, Bristol Myers Squibb, Alexandria Venture Investments, Dolby Family Ventures and other investors.

Longevity. Technology: Seattle-based Cajal is committed to discovering novel therapeutics for neurodegeneration; by focusing on the mechanistic, spatial and temporal complexity of neurodegeneration, the biotech’s powerful platform is designed to unlock the complexity of disease at unprecedented scale, and integrates expertise in neuroscience, neuroanatomy and computational biology with state-of-the-art technologies for high-throughput functional validation.

The researchers discovered a mutation in the thrombospondin-1 (THBS1) gene in three ethnically and geographically diverse families with a history of childhood glaucoma using advanced genome-sequencing technology. The researchers then confirmed their findings in a mouse model that had the genetic mutation and developed glaucoma symptoms due to a previously unknown disease mechanism.

ALSO READ: Check out these easy eye care tips to keep your eyes healthy as you age

This increase in pressure not only damages the optic nerve but can also affect other structures in a child’s eye like the cornea. Children with childhood glaucoma typically require surgeries as early as the first three to six months of life, followed by several more operations throughout their childhood.

Dreaming about Immortality has a long history, almost as long as the failed quests to achieve it. And during all these years and years, the solutions for achieving immortality can fall in several categories. The first is to take some kind of “magic pill” – be it the fountain of youth, the elixir of life, the holy grail, till modern medicine of genetic engineering. After the magic “pills” proved to be a failure, the second attempt was through more creative endeavours, such as building a monastery, a temple, making a sculpture or painting, till nowadays when we talk about digital immortality and I guess soon about virtual immortality. And, of course, there were always the “party-spoilers”, the ones asking: why to be Immortal?

Humanity has changed in many ways, but the hope of the dream of Immortality remained and generation after generation, trying to find it in different ways or forms. So, keep with us as we travel alongside the deepest human dream, to see all (the failed) trials.

Say hello to artificial bacterium syn-3, now with “swimming” powers thanks to genetic tinkering.

Cancer cells delete 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).

In our cells, the language of DNA is written, making each of us unique. A tandem repeat occurs in DNA when a pattern of one or more nucleotides—the basic structural unit of DNA coded in the base of chemicals cytosine ©, adenine (A), guanine (G) and thymine (T)—is repeated multiple times in tandem. An example might be: CAG CAG CAG, in which the pattern CAG is repeated three times.

Now, using state-of-the-art whole-genome sequencing and machine learning techniques, the UNC School of Medicine lab of Jin Szatkiewicz, Ph.D., associate professor of genetics, and colleagues conducted one of the first and the largest investigations of tandem repeats in schizophrenia, elucidating their contribution to the development of this devastating disease.

Published in the journal Molecular Psychiatry, the research shows that individuals with schizophrenia had a significantly higher rate of rare tandem repeats in their genomes—7% more than individuals without schizophrenia. And they observed that the tandem repeats were not randomly located throughout the genome; they were primarily found in genes crucial to brain function and known to be important in schizophrenia, according to previous studies.

Year 2017 This is essentially the mechanism for plant immortality.

RNA-directed DNA methylation (RdDM) activity in the Arabidopsis thaliana male sexual lineage that regulates gene expression in meiocytes. Loss of sexual-lineage-specific RdDM causes mis-splicing of the MPS1 gene (also known as PRD2), thereby disrupting meiosis. Our results establish a regulatory paradigm in which de novo methylation creates a cell-lineage-specific epigenetic signature that controls gene expression and contributes to cellular function in flowering plants.