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Alyftrek: Vertex Expands Cystic Fibrosis Treatment with Triple-Action Combo

XTalks

CF is a progressive genetic disease caused by defective CFTR proteins, which are crucial for regulating salt and water movement in cells. These mutations can vary in severity and impact on CFTR function, from complete protein dysfunction to defects in protein folding, trafficking or regulation.

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BridgeBio’s Attruby (Acoramidis): A New, More Potent TTR Stabilizer for ATTR-CM

XTalks

This progressive disease occurs when misfolded transthyretin (TTR) proteins form amyloid deposits in the heart, leading to cardiac dysfunction. BridgeBio has been highly active in the genetic diseases space.

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Rare genetic disease caused by mutations in protein that controls RNA metabolism

Scienmag

Credit: UPMC PITTSBURGH, May 7, 2021 – In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children’s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.

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General Design Methods for mRNA Drugs

Pharma Mirror

With the rapid development of biotechnology and molecular medicine, the introduction of mRNA as a vaccine or therapeutic agent enables the production of almost any desired functional protein/peptide within the human body.

In-Vitro 130
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MiNA and BioMarin partner to speed development of RNAa therapies

Pharmaceutical Technology

MiNA Therapeutics has entered into a research collaboration and option licensing agreement with BioMarin Pharmaceutical to speed up the development of therapeutic ribonucleic acid activation (RNAa) candidates to treat rare genetic diseases. The new deal excludes oncology and other therapeutic areas outside the scope of genetic disease.

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CNIO researchers shed light on the maturation of spliceosome, a cellular process involved in certain types of cancer

Scienmag

Alternative Splicing is an extraordinarily complex process that requires the coordinated action of multiple proteins, each specialised in very specific functions. These proteins are assembled and matured, forming a kind of consortium of proteins that perform these gene reading functions.

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Research team investigates causes of tuberous sclerosis

Scienmag

Mutations can disrupt protein binding through a “burr effect” thus interfering with the regulation of cell growth Credit: Kümmel team/Oeckinghaus team Tuberous Sclerosis Complex (TSC) affects between one and two of every 10,000 new-born babies.