Approaches to Rare Disease Studies

Where to start your rare disease drug development? In the race for a cure, researchers and patient-centric foundations are attacking rare disease research from multiple angles and in parallel. With the goal of reducing drug development time, scientists are applying innovative technologies, assessing multiple modalities and leveraging lessons learned from various forums.

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World Congress 2021

The Promises and Realities of Cellular Therapy: Are We Ready for the Revolution? Gain insight on key strategies from Dr. Peter Marks and other thought leaders.
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Alex and Jaci Hermstad. A Rare Disease Trailblazer Story. The development of Jacifusin, an antisense therapy for ALS.

A Rare Disease Trailblazer Story

Hear from Leading Researchers, Clinicians, and Patient Advocates how their collaboration lead to the development of Jacifusen, an ALS antisense therapy.

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Technologies for Rare Disease Studies

Platforms such as high-throughput screening (HTS), cell-based assays, and research models can be designed to mimic specific diseases using CRISPR and stem cells technology, providing more disease-relevant data for safety studies and translation to the clinic.

We are proud to collaborate with Open Treatments Foundation to decentralize gene therapy for rare genetic diseases by empowering patient foundations.

Link to a Sounds of Science podcast describing how CRIPSR technology is being applied to DMD, a brother helping a brother

A Father's Fight

Terry Pirovolakis’s son Michael was born with the ultra-rare SPG50 disease. Learn more in our Sounds of Science podcast.

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Modalities in Rare Disease Studies

The rare disease research pipeline is growing, fueled by technological advances in multiple modalities such as antisense oligonucleotide therapies.

Drug Development by Disease

The World Health Organization has identified over 7,000 rare diseases and expects 250 more added to the list each year. That’s 1 in 10 of the population affected.

World Health Organization statistics for Rare Diseases that describes the need for disease discovery services, listing 7000  diseases, 250 new  disease described annually,  80% rare disease are of genetic origin  50% affect children and 30% of rare patients die before the age of 5.


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The Disruptors: Conversations in Science

To pay homage to the most disruptive and visionary scientists leading the effort on the frontlines, Charles River is sharing stories about the state and direction of scientific research, discovery, and therapeutic development.
Meet the Disruptors

Frequently Asked Questions (FAQs) about Rare Disease Research