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8 August 2025

CHARGE connects the world

World map illustrating global participation in CHARGE-Awareness-Day

What is CHARGE Syndrome Awareness Day?

CHARGE Syndrome Awareness Day is held on August 8 every year.

CHARGE Syndrome Awareness Day, launched in 2024, brings together families and rare disease organisations globally with a shared goal of raising awareness of CHARGE syndrome. The day is recognised by more than 24 charitable organisations across 18 countries. Many of these are family-led organisations dedicated to supporting individuals with CHARGE syndrome, as well as their families, caregivers, and those who provide care to them.

5 young people from Germany at the 2025 conference

What is the aim of CHARGE Syndrome Awareness Day?

CHARGE Syndrome Awareness Day is a global day of recognition. The diverse network of not-for-profit charitable organisations, each operating independently within their own countries, may have unique missions and visions.

However, all share a common purpose: to provide support to individuals living with CHARGE syndrome and their families.

  • Raise awareness of CHARGE syndrome globally.
  • Bring together a rare disease community to show they are not alone.
  • Celebrate the variability of CHARGE syndrome 
  • Encourage fundraising for the CHARGE syndrome organisation in their country.
  • Establish own CHARGE (parent) groups

History of CHARGE Syndrome Awareness Day

CHARGE Syndrome Awareness Day was established in 2024 in response to a global call for a dedicated day to celebrate CHARGE syndrome and raise awareness of this rare disease. Although CHARGE syndrome was first recognised in 1981, it had been nearly 25 years without a global awareness day.

In 2023, two parents living 16,200 kilometers apart (Claudia Junghans in Germany and Madelene Rich in Australia), decided that the wait had gone on long enough and took the initiative to make the awareness day a reality. 

Why August 8?

This date commemorates the publication online of the groundbreaking paper on the discovery of the CHD7 gene in 2004. It was discovered by researchers from the Radboud University Medical Centre Nijmegen in the Netherlands. Lisenka Vissers, Conny van Ravenswaaij, Ronald Admiraal, Bert de Vries and Han Brunner. 

The first CHARGE Syndrome Awareness Day was held 8 August 2024, marking 20 years since the publication online of the paper ‘Mutations in a new member of the chromodomain gene family cause CHARGE syndrome’.

While this important genetic discovery is useful, a diagnosis of CHARGE syndrome remains clinical with genetic testing being used used in borderline cases.

Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36(9):955-957. doi:10.1038/ng1407