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.

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 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.

Susan Sparks is a Medical Genetics specialist and a Pediatrics provider in Charlotte, North Carolina. Dr. Sparks is highly rated in 2 conditions, according to our data. Her top areas of expertise are Pompe Disease, Smith-Lemli-Opitz Syndrome, ALG1-CDG, and Danon Disease.

Vinayak Kottoor is a Medical Genetics specialist and a Pediatrics provider in Arden, North Carolina. Dr. Kottoor is highly rated in 1 condition, according to our data. His top areas of expertise are Obesity in Children, Seasonal Affective Disorder (SAD), Hypertension, and Multisystem Inflammatory Syndrome in Children (MIS-C). Dr. Kottoor is currently accepting new patients.

Sara Elrefai is a Medical Genetics provider in Charlotte, North Carolina. Dr. Elrefai is highly rated in 3 conditions, according to our data. Her top areas of expertise are Li-Fraumeni Syndrome, HER2 Negative Breast Cancer, BRCA Positive Breast Cancer, and Phacomatosis Pigmentovascularis. Dr. Elrefai is currently accepting new patients.

Tamison Jewett is a Medical Genetics specialist and a Pediatrics provider in Winston Salem, North Carolina. Dr. Jewett is highly rated in 25 conditions, according to our data. Her top areas of expertise are Brittle Cornea Syndrome, Vascular Ehlers-Danlos Syndrome (VEDS), Fetal Alcohol Syndrome (FAS), and Aarskog Syndrome.

Chad Haldeman is a Medical Genetics specialist and a Pediatrics provider in Greensboro, North Carolina. Dr. Haldeman is highly rated in 12 conditions, according to our data. His top areas of expertise are Fabry Disease, Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, and Danon Disease.

Laurie Demmer is a Medical Genetics specialist and a Pediatrics provider in Charlotte, North Carolina. Dr. Demmer is highly rated in 4 conditions, according to our data. Her top areas of expertise are Hypotonia, Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), and Micrognathia. Dr. Demmer is currently accepting new patients.

Kathleen Kaiser-Rogers is a Medical Genetics provider in Chapel Hill, North Carolina. Dr. Kaiser-Rogers is highly rated in 3 conditions, according to our data. Her top areas of expertise are Trisomy 13, Chromosome 13q Duplication, Mosaicism, and Hypotonia.

Margie Jaworski is a Medical Genetics specialist and a Pediatrics provider in Greenville, North Carolina. Dr. Jaworski is highly rated in 1 condition, according to our data. Her top areas of expertise are Pyruvate Dehydrogenase Deficiency, Short Rib-Polydactyly Syndrome Type 1, Pyruvate Decarboxylase Deficiency, and Polydactyly.

Jiyong Wang is a Medical Genetics provider in Charlotte, North Carolina. Dr. Wang is highly rated in 1 condition, according to our data. His top area of expertise is Temple Syndrome.

Ian King is a Medical Genetics provider in Chapel Hill, North Carolina. Dr. King is highly rated in 1 condition, according to our data. His top area of expertise is Angelman Syndrome.

Sarah Rapisardo is a Medical Genetics provider in Durham, North Carolina. Her top area of expertise is Chromosome 7p Deletion.

Hiba Risheg is a Medical Genetics provider in Chapel Hill, North Carolina. Her top areas of expertise are Angelman Syndrome, Autism Spectrum Disorder, Hypotonia, and Intrauterine Growth Restriction.

Colby Ford is a Medical Genetics provider in Charlotte, North Carolina. His top area of expertise is Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B).

Bradford Powell is a Medical Genetics specialist and a Pediatrics provider in Chapel Hill, North Carolina. His top areas of expertise are Lowe Syndrome, Microcephaly Deafness Syndrome, Deafness Craniofacial Syndrome, and Cortical Dysplasia. Dr. Powell is currently accepting new patients.

Gloria Haskell is a Medical Genetics provider in Burlington, North Carolina. Her top areas of expertise are Mosaicism and Pompe Disease.

Karen Schmidt is a Medical Genetics provider in Greenville, North Carolina. Her top area of expertise is Familial Multiple Lipomatosis.

Kelly Rafferty is a Medical Genetics provider in Chapel Hill, North Carolina. Her top area of expertise is Mosaicism.

Rose Guo is a Medical Genetics specialist and a Pediatrics provider in Greensboro, North Carolina. Her top areas of expertise are CLN2 Disease, Batten Disease, CLN4 Disease, and CLN5 Disease. Dr. Guo is currently accepting new patients.

Michael Adams is a Medical Genetics provider in Chapel Hill, North Carolina. Dr. Adams has been practicing medicine for over 9 years. His top areas of expertise are Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Fabry Disease, and Beckwith-Wiedemann Syndrome. Dr. Adams is currently accepting new patients.

Ricardo Ong is a Medical Genetics specialist and a Pediatrics provider in Chapel Hill, North Carolina. His top area of expertise is Hypophosphatasia (HPP).

Dona Kanavy is a Medical Genetics provider in Chapel Hill, North Carolina. Her top area of expertise is Pompe Disease.

Michaela Reinhart is a Medical Genetics specialist and a Pediatrics provider in Chapel Hill, North Carolina.