The UK NIHR BioResource study used whole genome sequencing to diagnose hundreds of patients with rare diseases, identifying new genetic causes and improving treatment options. The study showed that sequencing the entire genomes of patients with rare diseases can lead to quicker and more accurate diagnoses.
Researchers have identified a new genetic disorder that causes dystonia, a disabling movement disorder. Patients with this condition can benefit from Deep Brain Stimulation, which has restored independent walking and improved hand and arm movement in most cases.
Researchers have developed a new approach to creating human vaccines against HIV using Kymouse, a genetically modified mouse that mimics human antibody responses. The study found that Kymouse can produce antibodies of the type needed for protection, suggesting ways to improve immunization regimes.
Researchers developed a more effective, comprehensive and cheaper panel of genetic tests to detect bleeding or clotting disorders in patients. The new tests use genome sequencing technology to provide faster diagnoses and improve patient outcomes.