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Tag: rare disease

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AI

The Economic Case for AI-Driven Diagnoses of Rare Diseases

Imagine facing a health issue so elusive that it takes years—even decades—to diagnose. Meanwhile, your work performance suffers, your income dwindles, and your quality of life declines. For millions of people with rare diseases, this isn’t just a nightmare scenario; it’s their daily reality. Rare diseases, affecting fewer than 5 in 10,000 people in Europe […]

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Research

Patients Take the Lead in Rare-Disease Research

Imagine being one of only a few hundred people worldwide diagnosed with a condition so rare that even the medical community struggles to understand it. This is the reality for those living with TANGO2 Deficiency Disorder, a rare genetic disease that can cause life-threatening metabolic crises, developmental delays, and muscle weakness. This is just one […]

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Global

Rare Diseases: Global Progress, Challenges, and Hope

Imagine you’re part of a small town where each family has a unique story, each one different from the others. Now, picture that in the medical world. This is the reality for people with rare diseases. Rare diseases are conditions that affect a small percentage of the population. In the United States, a disease is […]

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Health equity

The Costs of Rare Diseases

Imagine a world where you or a loved one has a condition so rare that doctors struggle to diagnose it, and treatments if they exist, come with sky-high costs. Actually, it’s not that hard to imagine. We all know someone who has been impacted by a “rare disease” This is the reality for millions of […]

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Society

Unseen Heroes: Caregivers of Rare Disease Patients

Imagine waking up every day, knowing that your loved one depends entirely on you for their daily needs. For many informal caregivers of people with rare diseases, this is their reality. These caregivers often face enormous physical, emotional, and financial burdens while trying to provide the best care possible. A recent study published in BMJ […]

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