In a new study in cells, University of Illinois researchers have adapted CRISPR gene-editing technology to cause the cell's internal machinery to skip over a small portion of a gene when transcribing it into a template for protein building. Such targeted editing could one day be useful for treating genetic diseases caused by mutations in the genome, such as Duchenne's muscular dystrophy, Huntington's disease or some cancers.
The protein CPEB4, which coordinates the expression of hundreds of genes required for neuronal activity, is altered in the brains of individuals with autism.
A study of a large animal model of achromatopsia caused by a mutation in the CNGA3 gene that was treated with a single injection of CNGA3 gene therapy delivered using an AAV5 vector revealed findings reported long-term follow-up findings that show promise for the efficacy and safety of this therapeutic approach.
Researchers funded by the National Eye Institute have reversed congenital blindness in mice by changing supportive cells in the retina called Müller glia into rod photoreceptors. The findings advance efforts toward regenerative therapies for blinding diseases such as age-related macular degeneration and retinitis pigmentosa.
Researchers at Mount Sinai have successfully restored vision in mice through activating retinal stem cells, something that has never been done before.
An aquarium fish that senses the Earth's magnetic field as it swims could help unlock how the human brain works and how diseases such as Parkinson's and other neurological disorders function. Michigan State University scientists are the first to discover a navigational gene in glass catfish called the electromagnetic-perceptive gene, or EPG, that responds to certain magnetic waves. They've already developed a way to use it to control movement in mice.
Medically underserved women in the Southeast diagnosed with breast cancer or ovarian cancer missed out on genetic testing that could have helped them and their relatives make important decisions about their health, according to new research from Vanderbilt-Ingram Cancer Center.
A new comprehensive natural history study about Amish nemaline myopathy (ANM) in the Old Order Amish population focuses on the promise of gene therapy for this lethal disorder. Amish nemaline myopathy (ANM) is an infantile-onset muscle disease linked to a mutation of the TNNT1 gene. The study summarizes genealogical records, clinical data, and molecular reports of one hundred and six ANM patients born between 1923 and 2017 and was led by researchers from the Clinic for Special Children in Strasburg, Pa.
A new study has shown that a single injection of a novel adeno-associated vector (AAV)-based therapy can result in improved enzyme activity and glycogen clearance as well as prolonged survival in a mouse model of Pompe disease.
Researchers at University of Utah Health have developed high-tech tools to uncover the genetic cause of the most difficult to diagnose cases.