Tag: Genetics

Polygenic score based on single nucleotide polymorphisms in the ara-C pathway genes may predict treatment outcomes

Risk for severe progression higher for patients in top quintile for PRS; association stronger in patients who were younger at disease onset

The Maryland heart patient is still doing well three days after the procedure was performed

cfRNA signatures from maternal blood draw may identify women at risk for developing preeclampsia prior to clinical presentation

Sex differences in migraine prevalence may not be entirely accounted for by genetic factors

Establishing a genetic diagnosis for patients with unexplained infantile or childhood-onset epilepsy can help individualize treatment

Diagnostic yields were higher for disorders likely to have a monogenic cause versus those with a complex cause

In a phase 1-2 trial, 16 of 18 men had sustained expression of factor VIII after gene transfer with adeno-associated viral vector (SPK-8011)

Cumulative live-birth rate with use of conventional IVF noninferior to that for embryo selection with preimplantation genetic testing for aneuploidy

Among participants in a biobank found to be carrying pathogenic or likely pathogenic variants, 76.3 percent unaware of these research results