Rare disease

Collectively, rare diseases are not rare, but affect millions of people. ӳ��ý scientists are discovering the genetic and biological roots of rare diseases, diagnosing patients, building new diagnostic technologies, and developing gene-editing and other new treatments.

Credit: CDC/ Dr. Edwin P. Ewing, Jr.

Microscopic image of cross-sectional calf muscle from a person with Duchenne muscular dystrophy, showing extensive replacement of muscle fibers by fat cells

Roughly 400 million people worldwide are affected by any of the 8,000 known rare diseases; many more people remain undiagnosed. The impact of these conditions ranges from mild to debilitating, and they often affect patients in multiple, complex ways. And because any single disease may affect a dozen people or fewer worldwide, the road to diagnosis and care is often long and uncertain.

Researchers at ӳ��ý are accelerating progress in the study and treatment of rare diseases in three main areas.

Improving diagnosis

Efforts such as the , , the , and the are:

Providing research and diagnostic sequencing for rare disease patients, families, and communities
Promoting the exchange of genetic and health data to support rare disease research and to improve diagnostic success rates
Establishing a baseline understanding of genetic variants' frequency within and across human populations
Developing new computational tools and analysis methods for variant discovery

Understanding biology

Through initiatives like the Ladders to Cures Scientific Accelerator and , ӳ��ý scientists are:

Pioneering the concept of nodal biology, which suggests that the individual variants underlying many rare diseases mechanistically converge on a more limited and tractable number of potentially treatable pathways, and provides a roadmap for discovering the biological roots of rare diseases
Leveraging machine learning, high-throughput technologies like optical pooled screening, and other approaches to discover disease mechanisms at scale
Exploring how elements of the noncoding genome relate to rare diseases

Advancing treatment

The Merkin Institute for Transformative Technologies in Healthcare, the Center for the Development of Therapeutics, the Friedrich's Ataxia Accelerator, and other programs are expanding therapeutic options for rare diseases by:

Advancing the precision and capability of base editing and prime editing for therapeutic genome editing, and expanding their ability to correct a growing number of disease-causing genetic variants
Engineering siRNA- and antisense oligonucleotide-based therapies aimed at silencing genetic variants linked to disease
Developing new small molecules, or repurpose existing ones, as therapies and as tools for probing disease mechanisms

Through these and other efforts, ӳ��ý scientists and their collaborators around the nation and the globe — including physicians, patients, families, and advocates — are accelerating progress on the science and treatment of rare diseases everywhere. The discoveries and technologies that arise from this work are shared openly with scientists, clinicians, and patient communities.