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On February 29th, the entire Human Variome Project Consortium is commemorating Rare Disease Day—an international grassroots advocacy day to raise recognition of rare diseases as a global health challenge. We invite everyone around the world, to join with us and other groups within their own country in recognising both the challenge of rare diseases and the good work being done by millions of researchers, healthcare professionals, patients and their families and carers around the world.

What is a Rare Disease?

Although the definitions vary from country to country, a rare disease is a condition or illness that affects a very small number of people within a country.

The United States classify rare diseases as those diseases that affect fewer than 200,000 people at any given time. In Europe, they are diseases that affect fewer than 1 in 2,000 people.

That might not seem like a lot of people, but we must remember that there are somewhere between 6,000 and 8,000 rare diseases recognised world-wide. That is a lot of affected people—estimated to be around 30 million people in the EU, 2 million Australians and 1 in 10 Americans.

80% of rare diseases are genetic and 50% of them affect children. As a group, rare diseases affect more people than cancer.

The Problems

Unfortunately, as rare diseases are a collection of diseases, not a single disorder, they receive little attention, research funding and support. Not enough is known about what causes these diseases, how they affect people with them and how we can treat their symptoms. Until we know more about them, patients with these diseases will continue to face delayed and potentially incorrect diagnoses, and the health, social and financial burdens that accompany this.

What is the Human Variome Project doing to help?

The Human Variome Project Consortium is working to ensure that everyone around the world has ready access to information on the consequences of every genetic change that has previously been reported. We strongly believe in the free and open sharing of information on genetic variation and its consequences and are dedicated to developing and maintaining the standards, systems and infrastructure that will embed information sharing into routine clinical practice. We envision a world where the availability of, and access to, genetic variation information is not an impediment to diagnosis and treatment; where the burden of genetic disease on the human population is significantly decreased; where never again will a doctor have to look at a genetic sequence and ask, “What does this change mean for my patient?”

How can I help?

For more information on Rare Diseases and Rare Disease Day, visit www.rarediseaseday.org.

To find out how you can get involved in your own country, visit www.rarediseaseday.org/country/finder.

Or join the Human Variome Project Consortium and help ensure that access to information on genetic variations is not an impediment to diagnosis and treatment.

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Guest Wednesday, 21 August 2019