Researchers from Landeskrankenhaus Salzburg (SALK) - Universitätsklinikum der PMU have identified a novel loss-of-function variant in the NDUFA7 gene in a patient with Leber’s hereditary optic neuropathy (LHON).
Scientists from the PsychENCODE Consortium have analyzed the brain transcriptome in a coordinated series of studies to map all the cell types, genes, epigenetic factors, and molecular pathways involved in different psychiatric disorders. After a first set of projects based on bulk analysis, the second phase of this project included 14 simultaneous publications that revealed the cellular atlas of post-traumatic stress disorder (PTSD) and major depressive disorder (MDD), among others.
CTNNB1 syndrome is a rare neurodevelopmental disorder that is caused by mutations in the gene encoding β-catenin, CTNNB1, which plays a critical role in neuronal development, synapse formation and brain maturation.
α1-Antitrypsin deficiency is a hereditary disorder that affects the liver in children and adults, as well as the lungs in adults. The disease is mostly caused by the Z allele mutation in the SERPINA1 gene, where a glutamic acid amino acid is substituted by lysine (E342K) leading to protein misfolding and aggregation.
Many patients with peripheral nerve diseases do not have a sufficient regenerative response because of genetic inheritance, infections or chronic disease, leading them to lifelong pain and disability.
The FDA has cleared an IND application for GC-1130A, a treatment for mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo syndrome type A) being jointly developed by GC Biopharma Corp. and Novel Pharma Inc.
Kate Therapeutics Inc. recently presented data on a novel muscle- and heart-targeted, liver de-targeted development candidate for the treatment of Duchenne muscular dystrophy (DMD) – KT-809.
The success of a vaccine, a gene editing design for an untreated disease, or achieving cell engraftment after several attempts, comes from years of accumulated basic science studies, thousands of experiments, and clinical trials. Innumerable steps precede hits in gene and cell therapies before a first-time revelation, and most of them are failures at the time. At the 27th Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT) in Baltimore last week, several groups of scientists presented achievements that years ago looked impossible.
Centogene NV and Evotec SE have announced the discovery of a new small molecule with potential to treat patients with type 2 and type 3 Gaucher disease, or neuronopathic Gaucher disease.
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