Center for Genetics & Rare Diseases

Studying the genetic origins of rare diseases and disorders

At Sanford Research, we investigate how the human genome shapes health, development and disease. By combining genomic sequencing, bioinformatics and advanced cell-based research, we work to uncover the root causes of both common and rare diseases – and translate those discoveries into more precise, personalized care.

Our goal

To transform genomic discoveries into real-world solutions, giving patients and families more answers, more options and more hope.

What we study

Our scientists explore how genes and cells behave across their lifespans to understand:

• How cellular identity forms and changes over time
• What triggers disease progression at the genetic, molecular and cellular levels
• How organ systems develop and what disrupts their normal development
• Why some rare conditions occur and how they can be diagnosed earlier

Why it matters

Rare diseases affect 30 million Americans, and two-thirds of those affected are children. Many conditions have a genetic cause or strong genetic component, making them uniquely suited for our expertise in:

• Genomic sequencing and interpretation
• Big data analytics and bioinformatics
• Single cell and organ analysis
• Targeted drug development and precision medicine

This integrated approach helps our team uncover patterns that guide better interventions, earlier diagnoses and more effective treatments.

Areas of impact

We are advancing understanding and treatment across a range of complex and rare conditions, including:

• Neurodegenerative diseases (e.g., Batten disease)
• Ciliary disorders
• Pediatric kidney diseases
• Other rare genetic and developmental disorders

Helping at all stages, from discovery to care

Our research pipeline moves discoveries into action by:

• Mapping genetic and cellular mechanisms of disease
• Identifying therapeutic targets and testing new treatments
• Advancing promising therapies into clinical trials
• Bringing clinical genetics into everyday primary care so providers can personalize medications, risk screening and patient management