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Shining a Light on Rare Diseases: Advocacy, Awareness, and Action on Rare Disease Day

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Today, as we commemorate Rare Disease Day, we unite in solidarity with the 300 million individuals worldwide who face the challenges of living with a rare disease. On this uniquely significant occasion, which coincides with the rarest calendar day of the year, we extend our unwavering support to the families, patients, and caregivers who tirelessly advocate for and care for those affected by rare diseases.

What does it mean to have a rare disease? It might mean there’s no treatment. In the US alone, 30 million people have a rare disease, and the National Organization of Rare Disorders states that approximately 400 FDA-approved therapies exist for the 7,000 rare diseases. Amidst these statistics, we recognize the patients, the families, and the challenges faced on Rare Disease Day, and we proudly support #showyourstripes.

What does the phrase #showyourstripes mean? It parallels the phrase, “when you hear hooves, think of a horse,” encouraging physicians to consider the most obvious diagnosis. However, for the 300 million worldwide with a rare disease, the hoof belongs to a zebra, not a horse. Hence the phrase, #showyourstripes. 

Nearly 80% of those affected by a rare disease may receive a genetic diagnosis, yet finding a cure remains a challenge with current medical therapies and approaches. Living with a rare disease means there is often limited data on other patients and treatments. However, hope is on the horizon for rare diseases as biomedical research advances and data accessibility increases. Scientific discovery is accelerating with Artificial Intelligence and Machine Learning (AI/ML). Revolutionizing how data is studied, shared, and analyzed leads to new algorithms and models for all aspects of rare disease research. 

Through the advancement of science with AI/ML technologies, these datasets expand as information is shared, allowing for accessibility worldwide. Machine models can make more accurate predictions, relying on patterns detectable only with sizable, high-quality datasets, thereby enhancing research. At BioTeam, we build and support genomics and AI infrastructure, essential in rare disease intervention, and we are honored to support these advancements. 

As AI/ML technologies evolve, the potential for treatments and breakthroughs also grows. The possibilities are endless as AI/ML tools can repurpose existing drugs, find new opportunities, make connections, and offer therapies for rare diseases. 

In 2019, Global Genes, an international advocacy group, began the Show Your Stripes social media campaign to speak up for those affected by rare diseases. Today is a day to Show Your Stripes and advocate for those with a rare disease. BioTeam shows its stripes for all the patients, researchers, clinicians, caregivers, and technical teams striving to treat and cure the 7,000 rare diseases. #showyourstripes

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