Browsing Tag
Rare Disease
7 posts
Machine learning system offers new hope for diagnosis of rare genetic disorders
Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine…
Baylor study reveals role of newly inherited DNA variants in recessive diseases
You have your mother’s eyes and your father’s smile, but genetics is much more than just what’s on…
Advancing computational pathology with UNI and CONCH foundation models
Foundation models, advanced artificial intelligence systems trained on large-scale datasets, hold the potential to provide unprecedented advancements for…
Hope for PDCD and Cure Mito Foundation unveil joint patient registry
Cure Mito Foundation and Hope for PDCD Foundation, both patient-led foundations focused on advancing research and supporting families…
SickKids study offers new path for pediatric rare disease clinical trials
Using a novel methodology, researchers at The Hospital for Sick Children (SickKids) are the first in pediatric research…
Researchers identify new therapeutic for patients with a rare autoimmune disease EGPA
An international team, including researchers from McMaster University and St. Joseph’s Healthcare Hamilton, has identified a new therapeutic…
CRISPR-Cas9 gene-editing tool repairs defective T cells to treat rare hereditary disease
Some hereditary genetic defects cause an exaggerated immune response that can be fatal. Using the CRISPR-Cas9 gene-editing tool,…