Rare Diseases Still Require Attention

Scripps Research is shining a light on rare diseases to improve diagnostics and create much-needed treatments.

Rare diseases can present multiple mysteries.

Get Curious

But “no treatment” is not an option at Scripps Research.

Chronic diseases have a way of grabbing headlines and funding dollars, but rare diseases have a devastating impact on people’s lives worldwide. Individually, a rare disease is defined as affecting fewer than 200,000 people in the U.S. But with more than 7,000 rare diseases identified, an estimated 30 million Americans are living with one.

At Scripps Research, our scientists are seizing rapid advances in genomics, cell biology, neuroscience and high-speed drug screening to bring relief to people with diseases which have few if any treatment options. We’re exploring novel approaches for diagnosing, treating and potentially curing diseases such as ALS, cystic fibrosis, Prader-Willi syndrome, spinal muscular atrophy and many others.

These kinds of medical innovations are desperately needed, as rare diseases are often misdiagnosed or remain undiagnosed for years, causing further anguish to both patients and their families. Because as many as 80% of these conditions are genetically driven, advances in genome sequencing are revolutionizing how we can identify and treat rare diseases. Our scientists are committed to accelerating groundbreaking discoveries and solving the mysteries of rare diseases to bring about faster and more effective treatments.

Rare Diseases Feature

Our Strategies to Address Rare Diseases

  • Drug Discovery and Development

    Our chemists designed a compound that blocks the most common genetic cause of familial ALS and frontotemporal dementia.

  • Treatments with Potential

    Using a small molecule to restore normal protein function, scientists here identified a potential treatment for Charcot-Marie-Tooth.

  • Success Through Teamwork

    Collaborative teams at Scripps Research learned how a potential new drug targets spinal muscular atrophy, a genetic disease.

  • Genomic Sleuthing

    The Scripps Research Translational Institute uses genome sequencing to decipher unexplained illnesses in patients with mysterious genetic disorders.

Rare doesn’t mean forgotten. Scripps Research is diligently applying its collective expertise to create new understanding and novel therapies for patients around the world.

Join a community of people who believe in the power of science.