Dr. Vandana Shashi

I see patients with mitochondrial and lysosomal storage diseases, developmental delay, intellectual disability, chromosomal disorders, congenital defects, short stature, failure to thrive, and adult genetic disorders. I love the application of rapidly growing genetic knowledge to treat patients with a variety of medical problems that involve a complex interaction of genetic and environmental factors, particularly since the Human Genome Project. I find it fascinating to use the massive power of sequencing technology and artificial intelligence/machine learning to predict phenotypes from genotypes with increasing clinical relevance to human health. In my spare time, I like to hike and play sports with my wife and teenage sons, play piano, and learn famous Russian poetry of the 19th century. I see patients in person and through telehealth. Dr. Niyazov is rated as an Advanced provider by MediFind in the treatment of Hypotonia. His top areas of expertise are Early Infantile Epileptic Encephalopathy, Macroglossia, Ehlers-Danlos Syndrome (EDS), and Microcephaly.

Clara Hildebrandt is a Pediatrics specialist and a Medical Genetics provider in Chapel Hill, North Carolina. Dr. Hildebrandt is rated as an Advanced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Ring Chromosome 18, Hypotonia, Chromosome 18p Deletion, Blepharophimosis, and Gastrostomy. Dr. Hildebrandt is currently accepting new patients.

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 rated as a Distinguished provider by MediFind in the treatment of Hypotonia. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Kearns-Sayre Syndrome.