Genetic/congenital - Articles - Page 36

Concept art for "unlocking the secrets of the mind"

Neurology/Psychiatric

Genetic variants and autoimmune response linked to neurodevelopmental delay

June 1, 2023

A group of German and French scientists has identified 15 genetic variants in a proteasome protein complex that are related to neurodevelopmental delay and also alter interferon type 1-mediated immune signaling. The finding contributes to the diagnosis of this neurological disorder and gives an opportunity for the development of therapies in patients who have these mutations.

Ocular

NGGT-001 gene therapy shows efficacy in cell and animal models of Bietti’s crystalline dystrophy

May 30, 2023

Bietti’s crystalline corneoretinal dystrophy (BCD) is an autosomal recessive inherited disease caused by mutations in the cytochrome P450 (CYP) family 4 subfamily V member 2 (CYP4V2) gene, which encodes a polyunsaturated fatty acid (PUFA) hydroxylase dominantly expressed in retinal pigment epithelium (RPE) cells.

Ocular

OT-004 delivers RPGRIP1 gene and stabilizes visual loss in murine model

May 30, 2023

Mutations in the RPGRIP1 gene are associated with rare retinal dystrophies and most commonly with Leber congenital amaurosis (LCA) type 6, which is characterized by vision loss, among other symptoms.

Concept art for adeno-associated viral-based gene therapy.

Endocrine/Metabolic

Preliminary results for NEU1-expressing gene therapy in preclinical sialidosis

May 29, 2023

Sialidosis is a lysosomal storage disease caused by mutations in the NEU1 gene, which encodes sialidase neuraminidase 1. These mutations lead to enzyme deficiency and subsequently accumulation of oligosaccharides and sialylated glycopeptides in tissues and body fluids, which in turn lead to cell and organ dysfunction. There are no approved therapies.
Three different AAV9 vectors encoding NEU1 were developed and tested by UMass Chan Medical School researchers in the preclinical setting in mice.

Endocrine/Metabolic

NGGT-002 gene therapy shows potential for treating phenylketonuria

May 29, 2023

NGGT (Suzhou) Biotechnology Co. Ltd. has presented preclinical data on an AAV vector approach that expresses human PAH, rAAV8-PAH, also known as NGGT-002. NGGT-002 has liver tropism and it was codon-optimized for expressing PAH in the liver.

Neurology/Psychiatric

Researchers create new mouse model of DMD using knock-in of human exon 50

May 26, 2023

Researchers from Huidagene Therapeutics Co. Ltd. have evaluated the effects of adenine base editing (ABE)-induced exon skipping of exon 50 in a humanized mouse model of Duchenne muscular dystrophy (DMD).

Endocrine/Metabolic

AAV9-CLN5 improves symptoms in mice with Batten disease

May 26, 2023

Neuronal ceroid lipofuscinosis, commonly known as Batten disease, is an inherited pediatric neurodegenerative lysosomal storage disease caused by mutations in the CLN5 gene. The disease is incurable and there is an urgent medical need for novel therapies. A murine model of Batten disease was developed to study a novel AAV vector that expresses CLN5, AAV9-CLN5. In the study by University College London investigators, the gene therapy, driven by the synapsin promoter, was intracerebroventricularly administered into neonatal Cln5-knockout mice.

Neurology/Psychiatric

MyoDys45-55 restores dystrophin and improves functional measures in murine model of DMD

May 26, 2023

Myogene Bio LLC has developed an approach through CRISPR7Cas9 technology...

Endocrine/Metabolic

AAV9-GLA restores α-galactosidase levels in murine model of Fabry disease

May 25, 2023

Fabry disease is a metabolic disease characterized by a deficiency in the lysosomal α-galactosidase enzyme caused by mutations in the GLA gene. This leads to substrate accumulation in the lysosomes, cellular dysfunction and organ damage.

The DNA double helix overlays a field of ACGTs and binary numbers.

Gene editing advances progress, by moving three steps forward and two steps back

May 23, 2023

By Mar de Miguel

The discovery of DNA was a milestone in the history of science that led to a breakthrough in biomedical research. By associating disease and genetics, genome correction techniques were ultimately developed that are supposed to work in the same way that antibiotics and antivirals block pathogenic microorganisms: by directly attacking the causes of disease.