genetic disease

People with a gene variant that puts them at high risk for Alzheimer’s disease are protected from its debilitating effects if they also carry a variant of a completely different gene, Stanford University School of Medicine investigators report in a large new study. Their findings[1] suggest that a substantial fraction of the estimated 15% of… Read more

A defect in the ATP13A2 gene causes cell death by disrupting the cellular transport of polyamines, scientists at KU Leuven have discovered. When this happens in the part of the brain that controls body movement, it can lead to Parkinson’s disease. “We found that ATP13A2 transports polyamines and is crucial for their uptake into the… Read more

A new technique to analyze biochemical changes unique to Huntington’s disease has been developed by researchers at the universities of Southampton and Cambridge. The breakthrough[1] has the potential to lead to the improved diagnosis of disease onset and possibly better ways to track the effects of new treatments. Huntington’s disease damages nerve cells in the… Read more

Researchers believe that autism is caused by mutations that occur sporadically in the egg or sperm or during pregnancy. Activity-dependent neuroprotective protein (ADNP) is a dominant gene whose de novo (during pregnancy) mutations are known to cause autism-related intellectual disabilities. A new Tel Aviv University study has found that ADNP mutations continue to occur in… Read more

Genome editing has been used to demonstrate the efficacy of CRISPR-Cas to treat the genetic problem that causes cystic fibrosis. The approach adopted by the research team opens new perspectives in the treatment of the genetic disease for which no cure is currently available. The disease is caused by a mutation of the gene that… Read more