Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism, is caused by silencing of the Fmr1 gene, leading to a lack of the FMRP protein, which regulates protein synthesis in neurons. One key pathway affected by FMRP loss is the metabotropic glutamate receptor 5 (mGluR5) signaling pathway, where activation of mGluR5 leads to excessive translation of several proteins involved in synaptic plasticity.
The Cystic Fibrosis Foundation has agreed to provide Prime Medicine Inc. an additional investment of up to $24 million to continue the development of a gene editing therapy for people with cystic fibrosis. Prime Medicine uses a gene editing technology called prime editing, which enables a wide range of modifications to the DNA with a high degree of precision.
The U.S. FDA has cleared Aavantgarde Bio Srl’s IND application for AAVB-039, the company’s gene therapy program for Stargardt disease, the most common inherited form of macular degeneration.
FAST kinase domain-containing protein 5 (FASTKD5) is a mitochondrial protein that is needed for processing mRNA in the primary mitochondrial transcript. Several mutations have been found in other proteins involved in mitochondrial metabolism, but mutations in the FASTKD5 gene have not yet been reported.
Hutchinson-Gilford progeria syndrome (HGPS), an extremely rare genetic disorder, arises when a silent point mutation in the gene encoding the nuclear envelope protein lamin A, LMNA, leads to abnormal splicing of LMNA mRNA.
Cellular atlases and omics studies, such as genomics, transcriptomics and proteomics, have become key tools for identifying the diversity of all the elements that make up the cardiovascular system. These approaches help scientists understand how cells, genes and molecules function and interact in both healthy and diseased conditions, revealing critical points where targeted interventions could not only relieve symptoms but potentially reverse the underlying pathology at its origin.
Lizards, zebrafish, salamanders and tritons can regrow a tail, a fin, or even an entire limb after amputation. Cut a planarian into pieces, and you will end up with a bunch of them.
Bardet-Biedl syndrome (BBS) is a group of rare autosomal recessive ciliopathies characterized by dysfunction of primary cilia, which affects multiple organ systems and leads to early-onset obesity, progressive retinal degeneration resulting in vision loss or blindness, and renal abnormalities that may progress to renal failure. Mutations in the BBS10 gene are the second most prevalent cause of BBS, accounting for over 20% of cases.
Frontera Therapeutics Inc. has developed FT-017, an adenovirus-associated vector(AAV)-based gene therapy that carries a human MYBPC3 optimized codon, for the treatment of hypertrophic cardiomyopathy (HCM).
Latus Bio Inc. is developing a new gene therapy, LTS-101, for the treatment of neuronal ceroid lipofuscinosis type 2 (CLN2), a form of Batten disease characterized by deficiency in the tripeptidyl peptidase 1 (TPP1) protein that leads to lysosomal dysfunction and neurodegeneration.
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