Investigating the relationship between COPD and liver disease in alpha-1 antitrypsin deficiency
Background and aims Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterized by the misfolding and accumulation of the mutant ...
Tag: Genetic Disorder
Small molecule discovery offers hope for treatment of Angelman syndrome
Angelman syndrome is a rare genetic disorder caused by mutations in the maternally-inherited UBE3A gene and characterized by poor muscle ...
Neanderthal child with Down syndrome reveals ancient caregiving practices
In a recent study published in the journal Science Advances, a group of researchers in Spain investigated the caregiving practices ...
Engineered virus-like particles power up gene editing, correcting blindness in mice
Prime editing, a versatile form of gene editing that can correct most known disease-causing genetic mutations, now has a new ...
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 ...
Roundworms shed light on vision loss in a rare human genetic disorder
In this interview, News-Medical speaks to Xinxing Zhang, a postdoctoral research fellow at the University of Michigan, about his research investigating ...
Postnatal gene therapy may be able to prevent or reverse deadly effects of Pitt-Hopkins syndrome
UNC Faculty of Medication Scientists have proven for the primary time that postnatal gene therapy may be able to prevent ...
