Research Articles
The Unseen Battle Within: Unraveling Fanconi Anemia
Explore the science, diagnosis, and emerging treatments for Fanconi anemia, a rare genetic disorder affecting DNA repair mechanisms.
Cracking the Cellular Code: The Journey to Understand NGLY1 Deficiency
Explore the groundbreaking research on NGLY1 deficiency, a rare genetic disorder, and the natural history study that's paving the way for potential treatments.
The Silver Key: How Beige Mice Are Unlocking the Secrets of a Rare Genetic Disorder
Discover how beige mice models are revolutionizing research on Chediak-Higashi syndrome, a rare genetic disorder affecting cellular machinery.