DUX in a row: Exploring genetic repression across the D4Z4 repeat

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By J Waters In the late 19th century, two French neurologists described a new form of muscular dystrophy which they named for the specific muscles it affects—the facial (facio-), shoulder (-scapulo-), and upper arm muscles (-humeral). Facioscapulohumeral dystrophy, or FSHD, causes progressive muscle weakness and wasting in these areas, affecting about 1 in every 10,000 individuals. …

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Epicrispr Biotechnologies Doses First Patient in First-in-Human Clinical Trial of EPI-321 for FSHD

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  SOUTH SAN FRANCISCO, Calif.–(BUSINESS WIRE)–Epicrispr Biotechnologies, a clinical-stage company pioneering gene-modulating therapies, today announced that the first patient has been dosed in its global first-in-human clinical trial of EPI-321, an investigational, one-time epigenetic editing therapy for facioscapulohumeral muscular dystrophy (FSHD). FSHD is a progressive genetic disease that affects approximately 1 in 8,000 individuals worldwide, …

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FDA Accelerated Approval Open for FSHD Agent Del-Brax, With Newly Initiated Phase 3 Study to Confirm Efficacy

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  In a number of company updates, Avidity Biosciences announced the FDA’s openness for an accelerated approval for its investigational agent delpacibart braxlosiran (del-brax) as a potential treatment for facioscapulohumeral muscular dystrophy (FSHD). The company has also initiated its phase 3 FORWARD study, a confirmatory, large-scale trial further testing the agent’s efficacy and safety, that …

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FSHD treatment del-brax (formerly AOC 1020) aids muscle function

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  by Margarida Maia, PhD | June 20, 2024 AOC 1020, an investigational treatment by Avidity Biosciences that’s now called delpacibart braxlosiran, or del-brax, helped adults with facioscapulohumeral muscular dystrophy (FSHD) grow stronger muscles and extend their arms farther than they could four months earlier. These are early data from FORTITUDE (NCT05747924), a three-part Phase 1/2 clinical trial that’s testing how safe del-brax …

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Chris Carrino heads to Capitol Hill to advocate for FSHD

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On May 8, 2024, Chris and Laura Carrino joined with members of the FSHD Society for a trip to Capitol Hill to meet with Senators, Congressman, and staffers in an effort to advocate for FSHD. With promising clinical trials underway, there is an urgency to introduce these lawmakers to FSHD patients and build relationships that …

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WDR5 is required for DUX4 expression and its pathological effects in FSHD muscular dystrophy

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Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent neuromuscular disorders. The disease is linked to copy number reduction and/or epigenetic alterations of the D4Z4 macrosatellite on chromosome 4q35 and associated with aberrant gain of expression of the transcription factor DUX4, which triggers a pro-apoptotic transcriptional program leading to muscle wasting. As today, no cure or therapeutic option is available to FSHD patients. Given its centrality in FSHD, blocking DUX4 expression with small molecule drugs is an attractive option.

Brooklyn Nets’ radio announcer Chris Carrino honored by NBA

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Read original article and view video content here. Brooklyn Nets’ radio announcer Chris Carrino is being honored by the NBA for both his decades of work and the obstacles he has overcome. After more than 20 years as the radio play-by-play voice of the Nets, Carrino has been recognized by the NBA with “The Values …

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NBA honors Chris Carrino with ‘Values of the Game’ award

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This article originally appeared on netsdaily.com. The NBA is honoring Chris Carrino, the play-by-play announcer, with the prestigious NBA Values of the Game Award this year, the Nets and the league reported Tuesday. The award recognizes an individual at an NBA team who exemplifies the values of the league in their community. The NBA is also honoring …

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Epic Bio, Founded by CRISPR Pioneer, Launches to Revolutionize Genetic Medicine with Epigenetic Engineering

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EPIC BIO, a biotechnology company developing ultracompact therapies to modulate gene expression in vivo, today announced its launch and Series A financing of $55 million. Epic was founded by Stanley Qi, Ph.D., a renowned bioengineer and named co-inventor on the CRISPR patent held by the University of California. The company’s mission is to develop a new class of genetic medicines that act on the epigenome, a naturally occurring mechanism that determines which genes are expressed and at what levels.