Dravet syndrome (DS) is a rare and severe form of epilepsy that causes intellectual disability and motor deficits and can lead to premature death. A loss-of-function mutation in one copy of SCN1A, encoding the voltage-gated sodium channel (NaV)1.1 α subunit, is the most frequent alteration found in DS patients and has been linked with inhibitory neuron dysfunction. Despite the potential of gene therapies, AAV-mediated SCN1A gene replacement for DS has not been possible yet due to AAV genome size constraints.
Despite being known for more than 150 years, Duchenne muscular dystrophy (DMD) remains an untreatable disease affecting approximately 1 of every 3,500-5,000 males. Muscles in patients express no or inactive dystrophin, rendering them weak and less mobile.
Genflow Biosciences plc has announced a development program in ophthalmology focused on advancing a novel gene therapy leveraging its proprietary centenarian SIRT6 (cSIRT6).
Researchers from Voyager Therapeutics Inc. presented preclinical activity data of VY-1706, a blood-brain barrier (BBB)-penetrant gene therapy comprising an adeno-associated virus serotype 9 capsid (AAV9-C9P39) vector encoding primary artificial microRNA (pri-amiRNA) consisting of short-interfering RNA (siRNA) targeting human microtubule-associated protein tau (MAPT) protein.
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease originating from biallelic pathogenic variants in the ARSA gene, mainly affecting young children.
Spark Therapeutics Inc. has presented a proprietary adeno-associated viral (AAV) vector expressing an artificial miRNA targeting human α-synuclein (α-Syn) mRNA. Accumulation of misfolded and insoluble α-Syn causes neuronal toxicity in preclinical models and has been identified as the underlying cause of synucleinopathies.
Variant SAS and the Rare Ocular Diseases Center at the University of Campania Luigi Vanvitelli (UCLV) have received positive feedback from the EMA for VAR-002, a recombinant AAV vector gene therapy targeting inherited retinal dystrophies linked to CRX mutations.
Epicrispr Biotechnologies Inc. has secured $68 million in the first close of its series B financing to support the clinical development of EPI-321, a first-in-class epigenetic therapy for facioscapulohumeral muscular dystrophy (FSHD).
Hubble Therapeutics LLC has successfully closed a $7.3 million series A funding round to support progression of its lead candidate, HUB-101, into clinical trials.
Bladder cancers (BCs) that invade the muscle layer are classified as muscle-invasive bladder cancers (MIBCs). The MIBC subtype accounts for around 25% of all BC cases, with a significant proportion of patients presenting distant metastases.
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