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.


Making Sense of Antisense Drugs

David Fischer describes the revival of RNA therapies and how to make sense of antisense oligonucleotide therapies for use in Rare Diseases such as Batten’s disease, Duchenne Muscular Dystrophy and Amyotrophic Lateral Sclerosis (ALS) and the progress in Gene Therapies and Cell Therapies.

Executive Director David Fischer, PhD, discusses how antisense oligonucleotides are moving from obscurity to a viable drug strategy.

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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.


Fighting Duchenne with Precision Medicine

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

Learn how CRISPR technology is applied to rare disease studies in our Sounds of Science Brother Helping Brother 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.


Jaci's Genes

Graphic of Antisense Oligonucleotide Therapies Mechanism of Action, which are being applied to Rare Diseases. This form of gene therapy target RNA sequencing, enzymatic pathways and splicing mechanism to impact gene mutations.

Learn how ASOs provide hope for ALS patients in Jaci's Genes.

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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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Frequently Asked Questions (FAQs) about Rare Disease Research