Elizabeth Ames, MD, PhD

In my clinical practice, I specialize in biochemical genetics, concentrating on patients diagnosed with treatable conditions and disorders identified through newborn screening. This includes managing lysosomal storage diseases, organic acidemias, and urea cycle disorders. Additionally, I actively participate in multidisciplinary clinics focused on neuromuscular genetics and RASopathies. I am also involved in exploring the use of innovative treatments such as vosoritide for achondroplasia and trofinetide for Rett syndrome. In a multidisciplinary clinic setting, I collaborate with colleagues to utilize medications like trametinib and everolimus for the comprehensive management of RASopathies.

My research interests cover a wide range of topics within medical science. I am particularly focused on the management and long-term follow-up of lysosomal storage disorders detected through newborn screening (NBS), renal replacement therapy for hyperammonemia, and the clinical presentation of TANGO2-related metabolic encephalopathy and arrhythmias. I am also keenly interested in the implementation of innovative therapeutic approaches. Specifically, I am dedicated to developing and applying novel therapies, including advanced gene therapy techniques, to address the complex challenges presented by these disorders. My goal is to advance the field of medical science towards more effective treatments and improved patient outcomes.