While the rare diseases may be different, the shared, lived experience is universal. For anyone who missed the world premiere of the...

The 2020 Sanford CoRDS Great Plains Rare Disease Day Summit went virtual this year with a focus on technologies and clinical tools for thera

Vagus Nerve Stimulation: What is it? A treatment for epilepsy that involves a small implant that electrically stimulates the vagus nerve,...

Source: Phenotypic and Imaging Spectrum Associated With WDR45 https://www.pedneur.com/article/S0887-8994(20)30084-9/fulltext#secsectitle0...

WDR45 | BPAN ROS/LIPID PEROXIDATION SOURCE: Glutamatergic Neuron-Liperfluo-CRISPRi CRISPRi FACS screen for oxidized lipids in human...

Lena Burbulla Recipient of Prestigious European Research Council (ERC) Grant Professor Lena Burbulla, Research Assistant Professor of...

Characterization of Selective Autophagy "Molecular function of WDR45/WIPI4 in ferritinophagy and neurodegeneration"

Like the many doctors, therapists, child psychologist and specialists including two pediatric geneticists and two pediatric neurologists,...