Rare Disease Day: Illumina shines a spotlight on people living with rare diseases

With a mission of empowering the rare disease community, Illumina has today partnered with medical researchers and families to highlight the importance of genomic sequencing and to shine the spotlight on the 300 million people worldwide living with a rare disease.

Rare Disease Day is an annual event working towards equitable access to diagnosis, treatment, health, social care and opportunity for people living with a rare disease. In Australia, there are around 2 million people living with a rare disease – 400,000 of which are children.

Of those affected, many remain in the dark about their condition and without a diagnosis, families are often left in an unknown limbo; with many spending on average up to 7-years searching for answers.

Maree Dalton, Australian mother of a child living with a rare disease said that “after years of searching for an explanation, the relief of having even a name to the condition is indescribable. Not only does a diagnosis provide answers, it can also lead to further support and access to the right help and healthcare.”

Having a diagnosis offered the ability for our family to connect with others sharing similar experiences. These communities offer an invaluable pillar of support during periods of struggle or uncertainty.”

Maree Dalton

There are over 7,000 different rare diseases that are chronic, progressive, degenerative, disabling and frequently life threatening.

Nicole Millis, CEO of Rare Voices Australia said: “Gene testing and whole-genome sequencing are instrumental to the detection of rare diseases.”

Ensuring widespread access to specialized diagnostic responses such as genomic testing is important to ensure timely and accurate diagnosis, a priority of the National Strategic Action Plan for Rare Diseases. In future, precision medicine using genomic data and insights into the development of tailored treatment will also play a central role in the management of rare disease.”

Nicole Millis, CEO, Rare Voices Australia

Illumina’s leading technology in genomic testing and sequencing is responsible for over 90% of the world’s sequencing data.

“One of genomic sequencing’s most powerful applications is in helping to identify the underlying genetic cause for a patient’s rare disease,” says Illumina Vice President and General Manager for Asia Pacific and Japan Gretchen Weightman. “These technologies can help families better understand these conditions, make a care plan that is best for their condition and in some cases, patients may even find treatments and most importantly, no one is left behind.”

“As a company, Illumina is dedicated to championing the needs of patients and the community. Our work in increasing access to whole-genome sequencing is underpinned by our commitment to further developing and delivering on the promise of precision medicine.”

This Rare Disease Day, Australians are encouraged to share a photo to their social pages with painted hands, using the hashtag #RareDisease Day and tag @rarediseaseday, to show the support for those living with rare diseases.

Rare Disease Day

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases. To learn more, visit www.rarediseaseday.org


Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture and other emerging segments. To learn more, visit www.illumina.com and follow @illumina. To learn more, visit www.illumina.com/areas-of-interest/genetic-disease/rare-disease-genomics.html

Rare Voices Australia

Rare Voices Australia (RVA) is the peak body for Australians living with a rare disease. RVA provides a strong, unified voice to advocate for policy as well as health, disability and other systems that work for people living with a rare disease. Our person-centered focus sees us working with all key stakeholders including governments, key peak bodies, researchers, clinicians, and industry. We advocate for the best outcomes for Australians living with a rare disease. To learn more, visit www.rarevoices.org.au



The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
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