It is also for these reasons that Rare Disease Day, which takes place every February and is coordinated by EURORDIS, is so important. The #LightUpForRare 8 theme highlights the issues faced by ...

Established in 2008, Rare Disease Day is observed annually on what is considered the rarest day of the year - February 28th or 29th, depending on leap years. Rare Disease Day aims to raise ...

News on rare diseases, including the development of new treatments, the challenges of diagnosis and treatment and the stories of patients and their families. The page features in-depth reporting ...

Call and score variants from WGS/WES of rare disease patients.

Copyright: © 2025 Published by Elsevier Ltd. In this issue of The Lancet Digital Health, Johan Thygesen, Honghan Wu, and colleagues show, for the first time, how ...

Patient advocacy groups warned that delays in implementing India's rare disease policy have left many, including children, in a life-or-death crisis, urging immediate government intervention to ...

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World NTD Day, observed on 30 January, aims to raise awareness and mobilize action against Neglected Tropical Diseases NTDs disproportionately affect marginalized communities, perpetuating cycles ...

Rare diseases are life ... IEMs like Maple Syrup Urine Disease (MSUD), Urea Cycle defects (UCD) and organic acidemia like methylmalonic acidemia (MMA). This testing is done on Liquid Chromatography ...

This year the theme of World Leprosy Day is, "Unite, Work, Eliminate Leprosy." Today we are going to tell you about some common myths related to leprosy. Leprosy is a bacterial disease that ...

The WHO released a short video of director-general Dr Tedros Adhanom Ghebreyesus on World Neglected Tropical Diseases Day (30 January), outlaying the challenges facing programmes that address these ...