Translational Research

Our work in translational research seeks to utilize our understanding of rare disease processes to develop interventions to improve patient lives. These interventions can include gene therapy to attempt to correct the underlying genetic problem or lifestyle changes, such as diet control, that can minimize the impact of a particular disease on daily living.

Lysosomal Storage Disorders

A group of approximately 60 conditions that have unique causes, characteristics, treatment approaches, and research opportunities.

Amish and Plain Communities

Pitt's proximity to Amish, Mennonite, and Plain communities in western and northern Pennsylvania, New York, and eastern Ohio allows us to research certain genetic disorders which disproportionately affect these populations.

Fatty Acid Oxidation Disorders

Mitochondrial fatty acid oxidation (FAO) is a pathway of energy generation and is active during times of fasting or physiologic stress.

Congenital Disorders of Glycosylation

A disorder in which the body’s ability to modify proteins is disrupted, leading to clinical disease.

Inborn Errors of Metabolism

Rare genetic (inherited) disorders where the body cannot properly convert food into energy

Branched Chain Amino Acid Metabolism

Organic acidemias, such as methylmalonic acidemia (MMA) and propionic acidemia (PA), are inherited disorders that interfere with the body’s ability to properly use certain enzymes to process carbohydrates, amino acids, and fatty acid oxidation.

Mitochondrial Diseases and NAMDC

Mitochondrial diseases comprise a group of relatively rare but very serious genetic disorders.

Pyruvate Dehydrogenase Complex

A type of metabolic disease when individuals are not able to break down nutrients in food to use for energy.

Precision Medicine

Congenital abnormalities and genetic disorders are a leading cause of infant mortality in the United States.


PKU (phenylketonuria) is a genetic disorder that impairs the body’s ability to break down phenylalanine (Phe).

Hypophosphatasia (HPP)

Hypophosphatasia (HPP) is an ultra-rare bone disorder caused by genetic changes in the ALPL gene.