UH Center for Human Genetics Research

Research Areas

Metabolic Diseases Research

Metabolic diseases arise when the body cannot properly convert food into energy, often due to enzyme deficiencies or defects in cellular pathways. These disorders can impact growth, neurological development, organ function and long-term health.

Research at the University Hospitals Center for Human Genetics focuses on:

• Natural history understanding: Studying how metabolic disorders progress over time to inform earlier diagnosis and targeted interventions.
• Novel therapeutic strategies: Evaluating emerging treatments to improve clinical outcomes, including enzyme replacement, gene-based approaches and metabolic pathway modulation.
• Biomarker development: Identifying biological indicators that can support more precise monitoring of disease activity and treatment response.

Our research includes multiple clinical studies investigating metabolic conditions across pediatric and adult populations.

Prader–Willi Syndrome Research

Prader–Willi Syndrome (PWS) is a rare genetic condition characterized by abnormalities in appetite regulation, metabolism, cognition and behavior. Because PWS affects multiple body systems, research plays a critical role in discovering more refined and effective management strategies.

Our research efforts include:

• Understanding metabolic and endocrine challenges associated with PWS, including hyperphagia and growth abnormalities.
• Evaluating new therapeutic interventions aimed at improving appetite control, behavioral symptoms and quality of life.
• Supporting long-term care strategies that address the evolving needs of individuals living with PWS from childhood into adulthood.

Insights from ongoing clinical studies help shape innovative approaches to care for this complex genetic condition.