Dr. Annette Leon

My practice includes caring for children and adults with inherited conditions, such as inherited disorders of metabolism, genetic syndromes, mitochondrial disorders, inherited causes of growth failure or developmental delay, and conditions detected by newborn screening. My clinic works with the Pediatric Biochemical Genetics Laboratory to diagnose these conditions. We provide treatment for inherited disorders of metabolism. I work closely with the geneticists, neurologists, pediatricians, internists, and other providers at Duke University Medical Center to provide comprehensive care for my patients. My research has been aimed at developing new treatments for inherited conditions, focusing on glycogen storage diseases, like Pompe disease and von Gierke disease. We have developed gene therapy for these conditions and are in the process of starting clinical trials to test safety and benefits. Dr. Koeberl is highly rated in 6 conditions, according to our data. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Kearns-Sayre Syndrome.

I am a clinical geneticist and a pediatrician with a deep interest in undiagnosed and rare genetic disorders. I provide medical care for children and adults with chromosome 22q11.2 deletion syndrome and diagnostic evaluation for patients with symptoms and signs of genetic disorders, when evaluations have not provided a specific diagnosis. Dr. Shashi is highly rated in 8 conditions, according to our data. Her top areas of expertise are DiGeorge Syndrome, Hypotonia, Immune Defect due to Absence of Thymus, and Micrognathia.

Dmitriy Niyazov is a Medical Genetics specialist and a Pediatrics provider in Durham, North Carolina. Dr. Niyazov is highly rated in 8 conditions, according to our data. His top areas of expertise are Early Infantile Epileptic Encephalopathy, Macroglossia, Ehlers-Danlos Syndrome (EDS), and Microcephaly.