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Category: genetics – Page 129

Vertex’s First Crispr Gene Editing Therapy Gets EU Backing
Europe’s health regulator followed the US and UK in backing the first gene-editing therapy to use Crispr technology, a Vertex Pharmaceuticals Inc. and Crispr Therapeutics AG treatment for sickle cell disease.
The European Medicines Agency’s expert panel recommended on Friday authorizing the Vertex and Crispr drug, Casgevy, for people with severe sickle cell disease and another serious hereditary blood disorder, beta-thalassemia, which is traditionally treated with repeated transfusions. Vertex said before the ruling that it had yet to establish a European list price for the one-time therapy, which costs $2.2 million in the US.
The treatment makes precisely targeted changes in patients’ DNA, a months-long process that requires removing bone marrow and a stem cell transplant. In Europe, Vertex said its initial focus will be on countries with the highest numbers of patients, including France, Italy, the UK and Germany.
8th FNIP webinar|1st speaker|Dr. G. Perea: Time-Controlling Activation of Astrocyte–Neuron Networks
ABSTRACT: Optogenetics has been widely expanded to enhance or suppress neuronal activity and it has been recently applied to glial cells. Here, we will discuss about a novel approach based on selective expression of melanopsin, a G-protein-coupled photopigment, in astrocytes. We will show the selective expression of melanopsin in astrocytes allows triggering astrocytic Ca2+ signalling, but also studying astrocyte–neuron networks and the behavioral astrocytic contribution.\
Chair and introduction: Dr. Letizia Mariotti (CNR — Institute of Neuroscience)
Aging Rewind: What The Studies Show — Can Young Plasma Turn Back the Epigenetic Clock?
A quickie about E5.
Dr. Steve Horvath shares some studies on evaluating whether young plasma fraction affects the epigenetic clock and lifespan in this short video.\
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Researchers define new class of regulatory element in DNA
Researchers at the MRC Weatherall Institute of Molecular Medicine’s Laboratory of Gene Regulation, led by Professor Doug Higgs and Dr. Mira Kassouf, have published a study in the journal Cell, in which they reveal another piece of the puzzle of how the code in our DNA is read.
In this study, the authors introduce the concept of “facilitators,” a newly identified type of non-coding DNA that can help to drive gene expression.
All of the cells in your body contain the same DNA. However, these cells are able to develop into over 200 different types and make up a variety of different specialized tissues such as the skin, the blood, and the brain.

Unlocking the human genome: Innovative machine learning tool predicts functional consequences of genetic variants
In a novel study, researchers from the Icahn School of Medicine at Mount Sinai have introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain and loss-of-function variants across the genome.
Unlike current methods that predominantly focus on loss of function, LoGoFunc distinguishes among different types of harmful mutations, offering potentially valuable insights into diverse disease outcomes. The findings are described in Genome Medicine.
Genetic variations can alter protein function, with some mutations boosting activity or introducing new functions (gain of function), while others diminish or eliminate function (loss of function). These changes can have significant implications for human health and the treatment of disease.

Kinematic self-replication in reconfigurable organisms
All living systems perpetuate themselves via growth in or on the body, followed by splitting, budding, or birth. We find that synthetic multicellular assemblies can also replicate kinematically by moving and compressing dissociated cells in their environment into functional self-copies. This form of perpetuation, previously unseen in any organism, arises spontaneously over days rather than evolving over millennia. We also show how artificial intelligence methods can design assemblies that postpone loss of replicative ability and perform useful work as a side effect of replication. This suggests other unique and useful phenotypes can be rapidly reached from wild-type organisms without selection or genetic engineering, thereby broadening our understanding of the conditions under which replication arises, phenotypic plasticity, and how useful replicative machines may be realized.

Complete Cell Atlas of a Mammalian Brain Unveiled
Summary: Researchers achieved a groundbreaking feat by creating the first complete cell atlas of a mammalian brain, specifically a mouse. This comprehensive map details over 32 million cells, their types, locations, molecular information, and connectivity.
The atlas offers an in-depth look into the mouse brain, a crucial model in neuroscience, and lays the groundwork for advanced treatments for mental and neurological disorders. It encompasses structural, transcriptomic, and epigenetic data, providing a blueprint for brain circuit operations and functioning.

Have we cloned human beings, if so, how does it work?
Cloning, a topic that has captured the imagination of many, continues to be a subject of scientific interest, ethical debates, and speculative musings. While its various forms and implications have been widely discussed, this article aims to provide an overview of cloning, present examples of successful cloning in different organisms, explore the mechanisms involved, and address the reports and speculations surrounding possible human cloning.
Understanding Cloning: Cloning is the process of creating an organism that is genetically identical to another individual. It can occur naturally, such as with identical twins, or it can be achieved artificially through scientific techniques. Artificial cloning techniques include somatic cell nuclear transfer (SCNT), where the nucleus of a donor cell is transferred into an enucleated egg cell, and reproductive cloning, which aims to create a living copy of an existing organism.
