A male patient who harbored a deletion in the intron 7-exon 8 region of the dystrophin gene, DMD, was showing symptoms that matched with Becker muscular dystrophy.
Fibrocor Therapeutics Inc. has entered into a research and development collaboration with the Mcquade Center for Strategic Research and Development LLC (MSRD).
Organoids are 3D models created from human stem cells and resemble fetal tissues. In an article published in Nature Medicine on March 4, 2024, researchers from University College London provided details on the possibility of generating organoids from epithelial cells collected from amniotic fluid without terminating the pregnancy.
Neurenati Therapeutics has closed its seed funding round, securing CA$1.2 million (US$884,000) to advance development of therapies for various rare diseases, including pediatric conditions.
An Italian group of researchers has used zinc finger editing to silence the PCSK9 gene and improve blood cholesterol levels in mice by applying a single dose of their modifier. The epigenetic-based method could be an alternative to genome editing.
At the recent Macula Society Meeting, researchers from the Molecular Insight Research Foundation reported on the creation of a novel murine model of North Carolina macular dystrophy.
At this week’s WORLDSymposium meeting, researchers from M6P Therapeutics Inc. reported on the preclinical efficacy of M-021, a novel enzyme replacement therapy (ERT) that co-expresses recombinant GAA with a bicistronic vector encoding N-acetylglucosamine-1-phosphotransferase (PTase; S1-S3).
Researchers from JCR Pharmaceuticals Co. Ltd. have presented new data for JR-171, a novel enzyme replacement therapy currently in early clinical development for the treatment of mucopolysaccharidosis type I (MPS I), also known as Hurler syndrome.
Investigators from Proqr Therapeutics NV have tested their product QR-1011, an antisense oligonucleotide designed to correct splicing abnormalities within the ABCA4 gene that affect protein expression levels, in Stargardt disease.
Current risk genes for some diseases such as multiple sclerosis (MS) may have emerged in the past as protection against infection by different pathogens. A group of researchers led by scientists from the University of Copenhagen has analyzed the ancient DNA of European populations and has revealed how MS, Alzheimer’s disease (AD) and diabetes arose as populations migrated. This evolution would explain the modern genetic diversity and the incidences of these pathologies observed today in the old continent.
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