Investigators from Insmed Inc. have presented new preclinical data on the efficacy of their adenoviral vector (AAV9)-based gene therapy INS-1201 for the treatment of Duchenne muscular dystrophy (DMD).
At this week’s Muscular Dystrophy Association Clinical and Scientific Conference in Dallas, researchers from Suzhou Genassist Therapeutics Co. Ltd. presented preclinical data for GEN-6050X (ss.AAV9.oTAM and ss.AAV9.hE50-sgRNA).
To identify new genetic modifiers for epidermolysis bullosa simplex (EBS), a team led by scientists at Tel Aviv Medical Center performed exome sequencing of 195 patients with EBS from 90 different families, followed by screening for pathogenic variants in selected individuals, which resulted in identification of 3 variants in HMCN1 (codes for hemicentin-1) that co-segregated with the disease phenotype severity in 4 families.
Bardet-Biedl syndrome (BBS) is a ciliopathy that leads to progressive blindness due to degeneration of cone photoreceptors, but the mechanisms behind this are not well understood. The syndrome is associated with obesity, polydactyly, cardiovascular disease and skeletal abnormalities, among others, and it is caused by genetic variants in the BBS10 gene in about 40% of the cases.
Neurodevelopmental disorders related to protein phosphatase 2A (PP2A) have been recently renamed as Houge-Janssens syndrome and they are caused by heterozygous, de novo pathogenic genetic variants in the PPP2R5D, PPP2R1A or PPP2CA genes. The syndrome is characterized by features such as intellectual disability, autism, developmental delay, seizures or brain abnormalities, among others.
Lysine demethylase 6A (KDM6A) is a demethylase that plays a key role at regulating developmental gene expression signatures in several tissues, including neuronal cells. The KDM6A gene is located in chromosome X and pathogenic variants in this gene are tied to Kabuki syndrome type 2. Even though progress in understanding the functions of KDM6A has been made, its role in cochlear development and auditory function remains poorly understood.
The U.K. has released a huge repository of children’s genomic data after sequencing blood samples from three large cohorts recruited at birth and followed across three decades. The power of the data is amplified by the large volume of longitudinal health information, biological samples and responses to surveys and questionnaires that has been provided by participating families. Before this, large-scale publicly available genome sequences were limited to adult cohorts, and the only childhood genome sequence data was from children with rare diseases.
Neurenati Therapeutics Inc.’s NEU-001 has been awarded U.S. orphan drug and rare pediatric disease designations by the FDA for the treatment of Hirschsprung disease.
Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis.
Too much of a good thing, it turns out, is a concept that applies to oxygen. And researchers at the University of California at San Francisco are working on a small molecule, Hypoxystat, that can lower tissue oxygen levels and prevent damage when oxygen levels are too high. When administered to mice with the rare mitochondrial disorder Leigh syndrome, the molecule more than tripled their average lifespan.
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