Rare Diseases Q3 2023

Newborn genomes research study should answer important questions

Rare Diseases February 2019

Optimism, but challenges ahead for curing rare diseases

Our campaign partners

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Partnering with patients on their rare disease journey

From lab to clinic: what charities are doing to power rare disease progress

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Network of support services for families faced with mitochondrial disease

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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

Popular articles

A reliable resource dedicated to easing rare disease research for all

Rare disease education reaches over 1 million learners

Faster treatment access: why putting patients first leads to better outcomes

Challenges in rare disease treatment approval — and how to solve them

Tackling rare diseases: Wilson disease patient and millions more like her need help

Rare Diseases Q3 2023

How patients and communities can help in rare disease treatment development

Ways to apply digital and technological solutions to benefit people with rare diseases

Individualised medicines offer hope for children with a rare disease

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

Enjoying each others company

Very rare but treatable: how to reach people with paroxysmal nocturnal haemoglobinuria

Partnering with the rare community to co-create training opportunities

African American therapist leading a group therapy and pointing at one of the participants.

Rare Diseases Q3 2023

Rare disease patient organisations: how to help them drive change

Science professor giving lecture to class

Rare Diseases Q3 2023

Future of medical education: how to ensure rare disease is part of learning

Rare disease education reaches over 1 million learners

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

Faster treatment access: why putting patients first leads to better outcomes

lab researcher

Rare Diseases Q3 2023

Ensuring universal health coverage works for every Person Living with a Rare Disease

Cardiologist doctor examine heart functions and check up report electronic medical record of patient on tablet.

Uncovering rarity in heart failure

Smiling professional female doctor taking notes, looking at laptop screen

Clinical trial search: how to match patients and help them with unmet needs

Finding hope in a global movement to cure rare diseases