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  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...

  3 min read
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  How patients and communities can help in rare disease treatment development

  The patient voice cannot be overlooked, and patients can’t be engaged on a transactional basis. To make real headway in rare disease treatment, we must work together — patients and caregivers, advocacy groups, government, researchers and industry.  For rare disease treatment to progress, patients should be brought into the drug development process as early as...

  2 min read
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  Newborn genomes research study should answer important questions

  The Newborn Genomes Programme will detect rare conditions earlier and find helpful ways to move forward. The first UK baby to be screened using genome sequencing at birth will be born in 2024. Genomics England’s Newborn Genomes Programme is a research study, which proposes to sequence and analyse the genes of 100,000 babies. It explores...

  3 min read