Featured Research Areas
The research team, comprising Amarilis Sanchez-Valle, MD, Christopher Griffith, MD, and Judith Ranells, MD, focuses on various genetic disorders and metabolic conditions. Dr. Sanchez-Valle specializes in inborn errors of metabolism, with particular emphasis on Phenylketonuria, Fatty Acid Oxidation Disorders, and Urea Cycle Disorders. Dr. Griffith investigates lysosomal storage disorders, including Fabry, Pompe, and Gaucher diseases. Dr. Ranells concentrates on Rett Syndrome, exploring novel gene identification and associated phenotypes. Together, their work aims to advance understanding and treatment of these complex conditions.
Research Team
The research team is composed of three dedicated clinical research coordinators who play a vital role in facilitating studies, managing patient recruitment, and ensuring adherence to protocols. This collaborative team is committed to advancing research and improving treatment outcomes for patients with rare metabolic and genetic disorders, including Phenylketonuria, Fabry, Pompe, Gaucher diseases, and Rett Syndrome.
Our Team's Publications
