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Penn Scientists Use CRISPR for First Time to Correct Clotting in Newborn and Adult Mice

The Jackson LaboratoryCRISPR/Cas9, a powerful genome editing tool, is showing promise for efficient correction of disease-causing mutations. For the first time, researchers from the Perelman School of Medicine at the University of Pennsylvania have developed a dual gene therapy approach to deliver key components of a CRISPR/Cas9-mediated gene targeting system to mice to treat hemophilia B. This disorder is also called factor IX deficiency and is caused by a missing or defective clotting protein. Their research will be presented during the 58th Annual American Society of Hematology Meeting and Exposition in San Diego from December 3-6 (Abstract #1174).

“This study provides convincing evidence for efficacy in a hemophilia B mouse model following in vivo genome editing by CRISPR/Cas9,” Wang said.

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Our Brains Have A Basic Algorithm That Enables Our Intelligence, Scientists Say

brainOur brains have a basic algorithm that enables us to not just recognize a traditional Thanksgiving meal, but the intelligence to ponder the broader implications of a bountiful harvest as well as good family and friends. “A relatively simple mathematical logic underlies our complex brain computations,” said Dr. Joe Z. Tsien, neuroscientist at the Medical College of Georgia at Augusta University, co-director of the Augusta University Brain and Behavior Discovery Institute and Georgia Research Alliance Eminent Scholar in Cognitive and Systems Neurobiology. Tsien is talking about his Theory of Connectivity, a fundamental principle for how our billions of neurons assemble and align not just to acquire knowledge, but to generalize and draw conclusions from it. “Intelligence is really about dealing with uncertainty and infinite possibilities,” Tsien said. It appears to be enabled when a group of similar neurons form a variety of cliques to handle each basic like recognizing food, shelter, friends and foes. Groups of cliques then cluster into functional connectivity motifs, or FCMs, to handle every possibility in each of these basics like extrapolating that rice is part of an important food group that might be a good side dish at your meaningful Thanksgiving gathering. The more complex the thought, the more cliques join in. That means, for example, we cannot only recognize an office chair, but an office when we see one and know that the chair is where we sit in that office.

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Breakthrough As Gene-Editing Technique Restores Sight To Blind Animals

cell-nucleiBlind animals have had their vision partially restored using a revolutionary DNA editing technique that scientists say could in future be applied to a range of devastating genetic diseases. The study is the first to demonstrate that a gene editing tool, called Crispr, can be used to replace faulty genes with working versions in the cells of adults – in this case adult rats. The latest study, published in the journal Nature, demonstrates that adult rats that had been engineered to have a genetic form of blindness called retinitis pigmentosa could be treated using Crispr gene therapy. “We were able to improve the vision of these blind rats,” said co-lead author Reyna Hernandez-Benitez, also of the Salk Institute. “This early success suggests that this technology is very promising.”

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How Mammary Glands Appeared In The Course Of Evolution

koala-1716142_960_720A joint team of geneticists from the University of Geneva (UNIGE) and the Swiss Federal Institute of Technology in Lausanne (EPFL), Switzerland, demonstrated that the emergence of mammary glands in placental mammals and marsupials results from recycling certain ‘architect’ genes. The latter, known as Hox genes, are responsible for coordinating the formation of the organs and limbs during the embryonic stage. Such genes are controlled by complex regulatory networks. In the course of evolution, parts of these networks were reused to produce different functions. Architect genes were thus requisitioned to form the mammary bud and, later, for gestation.

This team’s work has been published in the journal PNAS.

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Unlocking Big Genetic Data Sets

blei_results_500The same algorithms that personalize movie recommendations and extract topics from oceans of text could bring doctors closer to diagnosing, treating and preventing disease on the basis of an individual’s unique genetic profile. In a study to be published Monday, Nov. 7 in Nature Genetics, researchers at Columbia and Princeton universities describe a new machine-learning algorithm for scanning massive genetic data sets to infer an individual’s ancestral makeup, which is key to identifying disease-carrying genetic mutations. “We’re excited to scale some of our recent machine learning tools to real-world problems in genetics,” said David Blei, a professor of computer science and statistics at Columbia University and member of the Data Science Institute.

Read the full article here.

 

Plant-Eating Mammals Have Bigger Bellies, Claims New Study

skeletons-herbivoresProf. Clauss and his colleagues from Germany and the UK studied the shape of the ribcage in 126 terrestrial tetrapods — from prehistoric times up to the present day. With the aid of photogrammetry and computer imaging techniques, they compiled a dataset of digital 3D models of tetrapod skeletons. “This resulted in 126 digital skeletons of tetrapods including 86 synapsids (10 fossil synapsids, or ‘mammal-like reptiles,’ and 76 fossil and extant mammals), 38 diapsids (six extant birds, 27 non-avian dinosaurs, five fossil and extant reptiles), and two amphibians,” the researchers said. Using the computer-based visual evaluation of this dataset, the team reconstructed the volume of the body cavity (torso), which is delineated by the spinal column, the ribcage and the pelvis. “In the overall dataset, diet had a significant effect on the torso volume, with herbivores having about 1.5 times larger torso volumes than carnivores. This was due to a clear effect of diet in mammals,” Prof. Clauss and co-authors said.

The team’s findings were published online Nov. 4, 2016 in the Journal of Anatomy.

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‘Mean Girl’ Meerkats Can Make Twice As Much Testosterone As Males

meerkatsTestosterone. It’s often lauded as the hormone that makes males bigger, bolder, stronger. Now a pair of Duke University studies has identified one group of animals, the meerkats of the southern tip of Africa, in which females can produce even more testosterone than males. Female meerkats with naturally high levels of testosterone-related hormones are more likely to be leaders, but they also pay a price for being macho, the studies show. In meerkats, it’s the ladies who do most of the growling, biting and chasing. The top-ranking meerkat queens are the biggest bullies, shoving, charging and swiping food from the females beneath them.

The findings are consistent with an idea biologists first proposed in 1992, which posits that testosterone makes males showier and more aggressive, but also more prone to infection.

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Monkeys Can Make Stone Tools, but They Don’t Use Them

capuchen-toolsThe capuchin monkeys of Serra da Capivara National Park in Brazil are well known for using rocks. They use them as hammers to crack open nuts. They use them for digging. They even use them to show off to potential mates. Now scientists report that they also spend time banging stones together, for no clear reason, producing sharp-edged stone flakes that are just like some of the first tools of early humans. They don’t use these flakes, so they are clearly not trying to produce them. But the flakes do show that neither the human hand nor brain is necessary for making such artifacts.

Tomos Proffitt, a researcher at Oxford who has studied early human tools produced in Africa, and his colleagues in England and Brazil, reported the observations and an analysis of the rock flakes in the scientific journal, Nature.

Read the full article here.