“We’ve shown that, in many cases, two damaging variants can work together to restore protein function,“ said Aimée Dudley, ...

A long-established drug with a diverse medical history is drawing new attention for its potential role in treating an ...

A newly identified and rare genetic variant slows the growth of mutated blood stem cells and reduces the risk of leukemia.

Blood cancer is an umbrella term for a variety of diseases that affect the blood, bone marrow and lymphatic system. Like most ...

An HIV-derived nucleoside therapy now treats rare genetic diseases by restoring mitochondrial DNA and improving muscle ...

University of Otago – Ōtākou Whakaihu Waka has led international research uncovering a new genetic cause for a rare developmental disorder that profoundly impacts brain growth and function in children ...

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by ...