Genetic and Metabolic Disease Program

The Genetic and Metabolic Disease Program (GMDP) integrates patient care and research to help diagnose and treat children with genetically determined metabolic diseases. We seek to improve the lives of children and families suffering from these diseases by advancing our understanding of the effect of genetic diversity on human metabolism, health and development.

What are genetic and metabolic diseases?

Collectively, diseases with a prominent genetic basis account for a disproportionate amount of illness and mortality in children and result in a quarter of the admissions to pediatric hospitals. Of these conditions, those that affect metabolism, known as “inborn errors of metabolism” (IEM), account for the largest subset of genetic diseases that affect children. Genetic defects in metabolic enzymes and transporters cause IEMs and lead to chemical imbalances in children that can cause death or permanent disability unless identified and treated at a young age. Because proper regulation of metabolism underlies essentially every process in the body, genetically defined metabolic abnormalities can severely affect organ development and function. Consequently, IEMs include diseases that cause myriad symptoms, including severe hypoglycemia, acidosis, neurological disability, liver failure and growth retardation.

We are inspired by the fact that many IEMs are treatable once the genetic basis of the disease has been identified. We can effectively treat many of the several hundred known IEMs through dietary modifications and medical therapy. We believe that identifying new IEMs and other genetic diseases will ultimately help us provide medical care for children whom otherwise no one could treat.