George A Diaz, MD, PhD
About Me
Language
English
Position
ADJUNCT CLINICAL PROFESSOR | Genetics and Genomic Sciences
Research Topics
Chemokines, Chemotaxis, Genetics, Genomics, Human Genetics and Genetic Disorders, Immunology, Microtubules, Signal Transduction, Virulence Genes
Multi-Disciplinary Training Areas
Genetics and Genomic Sciences [GGS]
Clinical Focus
- Carnitine Disorders
- Fatty Acid Oxidation Defects
- Galactosemia
- Glutaric Acidemia
- Glycogen Storage Diseases
- Homocystinuria
- Hypoglycemia
- Intellectual Disability
- Krabbe Disease
- Leukodystrophy
- Maple Syrup Urine Disease
- Metabolic Encephalopathy
- Methylmalonic Acidemia
- Mitochondrial Myopathy
- Newborn Screening
- Organic Acidemias
- Phenylketonuria
- Pompe Disease
- Propionic Acidemia
- Tyrosinemia
- Urea Cycle Defects
Research
The Diaz laboratory studies the molecular basis of inherited human diseases, particularly single-gene disorders. Methodologies applied within the laboratory include linkage analysis, positional cloning, development of animal models and elucidation of disease pathophysiology through biochemical and cell biological studies. By understanding the underlying pathobiology of these disorders, fundamental insights can be gained into more broadly relevant biological or clinical questions.