Mice with a defective human gene responsible for a rare genetic disease called congenital adrenal hyperplasia, have been developed for the first time. The achievement, presented at the 25th European Congress of Endocrinology, ...
May 15, 2023
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Using new genetic tools to study statins in human cells and mice, Stanford Medicine researchers and collaborators have uncovered how the cholesterol-lowering drugs protect the cells that line blood vessels.
May 11, 2023
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Researchers at Baylor College of Medicine have linked specific variants or mutations of the gene myocardin-related transcription factor B (MRTFB) with a novel neurodevelopmental disorder.
May 9, 2023
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Scientists at the University of Liverpool have figured out how mutations in a gene called FBXL4 can lead to an excess of mitophagy—the disposal of mitochondria, the 'power stations' within nearly all human cells.
May 4, 2023
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The p53 gene is one of the most important in the human genome: the only role of the p53 protein that this gene encodes is to sense when a tumor is forming and to kill it. While the gene was discovered more than four decades ...
May 4, 2023
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A major challenge in human genetics is understanding which parts of the genome drive specific traits or contribute to disease risk. This challenge is even greater for genetic variants found in the 98% of the genome that does ...
May 4, 2023
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A new study reports the findings of the functional evaluation of six AAV vectors in 12 preclinical models of the human liver. The study, which aimed to uncover which combination of models is the most relevant for the identification ...
May 2, 2023
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Researchers led by Sanford Burnham Prebys assistant professor Lukas Chavez, Ph.D., are leveraging the latest technology to take a never-before-seen look at ependymoma, one of the deadliest pediatric brain tumors. By visualizing ...
Apr 27, 2023
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In a paper titled "BBB opening with focused ultrasound in nonhuman primates and Parkinson's disease patients: Targeted AAV vector delivery and PET imaging," published in Science Advances, researchers led by the University ...
A successful gene therapy trialed at Michigan State University in dogs with an inherited eye disease is ready to be developed for clinical use in human patients with a rare condition called retinitis pigmentosa.
Apr 26, 2023
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