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How far are we from being able to treat mitochondrial disorders?

This page has been funded by UCB, but editorial control lies with the contributors. UCB only performed a medical accuracy review but was not otherwise involved in the content. Mitochondrial disorders are a group of rare diseases that affect 1 in 5,000 live births. They can present at any age and have a drastic impact … Continued
Newborn in mother's hands.
Rare Diseases Q3 2023

Newborn screening: how can it improve our population’s health outcomes?

With around 72% of rare diseases being of genetic origin and 70% exclusively affecting children, newborn screening offers invaluable benefits. It can revolutionise healthcare outcomes for newborns and families continent-wide.  Newborn screening comprises physical exams, hearing tests and drawing a few drops of blood to detect conditions at birth. It allows for the early identification … Continued
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A reliable resource dedicated to easing rare disease research for all

Participant screening for complex research studies can be lengthy and costly, especially in rare diseases in which there are smaller patient groups geographically dispersed. Established in 2007 at the University of Cambridge, the National Institute for Health and Care Research (NIHR) BioResource brings people and health research together, recruiting over 250,000 recallable volunteers with and … Continued