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Genetic/congenital, BioWorld Science
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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.
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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.
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Bone marrow transplant operation
Genetic/Congenital

Ex vivo autologous gene therapy risk leaves room for improvement

May 22, 2023
By Mar de Miguel
Gene therapy technology makes it possible to select diseased or mutated cells from a patient, modify them in the laboratory and reintroduce them to the body to treat different disorders. This is known as ex vivo autologous gene therapy. The difference with allogeneic cell techniques is whether the donor is oneself (autologous) or a compatible person (allogeneic), which would provide healthy cells that do not need genetic modification.
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Concept art for prenatal genetic testing and whole genome sequencing.
Neurology/Psychiatric

Placental gene expression sets risk trajectory for schizophrenia

May 17, 2023
By Anette Breindl
By analyzing gene expression patterns in the placenta of nearly 150 pregnancies and comparing them to fetal gene expression in the brain, researchers from the Lieber Institute for Brain Development have gained new insights into the importance of placental tissue in setting the risk trajectory for the development of schizophrenia. The work was published in Nature Communications on May 15, 2023.
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