Gene editing silences mutant microRNA, restores hearing in adult mice
Researchers have used gene editing to restore hearing in adult mice with a type of inherited hearing loss. They showed ...
Tag: Autosomal
One copy of the Christchurch variant may confer protection against familial Alzheimer's disease
A scientific story that began with a discovery in just one extraordinary patient is now panning out. In 2019, an ...
Investigational drug restores calcium levels in rare genetic disorder
An investigational drug, encaleret, restored calcium levels in people with autosomal dominant hypocalcemia type 1 (ADH1), a rare genetic disorder ...
Scientists study OAS–RNase L errors and COVID-19-associated multisystem inflammatory syndrome in children
In a recent study published in Science, researchers assessed the inborn abnormalities of 2′-5′-oligoadenylate synthetase (OAS)-ribonuclease L (RNASEL) noted in ...
Study identifies a promising target for polycystic kidney disease treatment
Blocking the inhibition of PKD1 and PKD2 gene expression by deleting a binding site for microRNAs hindered the formation and ...
New insights into the understanding of how ApoE variants contribute to Tau pathology in Alzheimer’s disease
In a recent study published in Acta Neuropathologica, researchers examined the impact of tau neuropathology of APOE3 Christchurch (APOE3ch) homozygote ...
Gene defect underlying Krabbe disease causes degeneration of neurons directly, study finds
The gene defect underlying Krabbe disease causes degeneration of neurons directly, independent of its effects on other cell types, according ...
