ResearchBIORXIVApr 4
Researchers developed a new test called targeted long-read sequencing that can better identify which genetic changes affect how genes are read and used in cells. This test is more accurate than older methods at finding these changes in patients with neurological disorders, and it's faster and cheaper than previous approaches.
WHY IT MATTERSIf you have a neurological disorder where genetic testing hasn't found a clear diagnosis, this method could help doctors identify the actual genetic cause by better detecting splicing variants that standard tests miss.
ResearchPUBMEDApr 1
Researchers in Italy tested a new way to diagnose rare genetic diseases in children using whole genome sequencing—a test that reads all of a person's genetic code. Between 2018 and 2022, they studied 64 children with complex neurological problems that doctors couldn't figure out. This study shows whether this genetic test could help find answers faster for kids with mysterious rare diseases.
WHY IT MATTERSIf your child has unexplained neurological symptoms and multiple doctors haven't found a diagnosis, this research demonstrates that whole genome sequencing through healthcare systems may finally provide answers—potentially ending years of diagnostic uncertainty.
ResearchCLINICALTRIALSMar 26
Researchers at a hospital in France are collecting biological samples (like blood) from 1,000 patients with rare nervous system diseases that may be caused by the immune system attacking the body. These samples will help scientists find new ways to diagnose and treat these diseases by identifying special markers in the blood that show disease activity.
WHY IT MATTERSIf you have a rare autoimmune neurological disease, participating in this sample collection could help researchers discover new biomarkers and treatments specifically for conditions like yours.