Miao He, Ph.D
Adjunct Associate Professor of Pathology and Laboratory Medicine
Co-Laboratory Director, Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine
Contact information
The Children's Hospital of Philadelphia
Department of Pathology and Laboratory Medicine
34th & Civic Center Boulevard
Philadelphia, PA 19103
Department of Pathology and Laboratory Medicine
34th & Civic Center Boulevard
Philadelphia, PA 19103
Email:
hem@email.chop.edu
hem@email.chop.edu
Education:
B.Sc. (Biochemistry)
Shanghai University of Science and Technology, 1993.
Ph.D. (Genetics)
University of Leeds, 1999.
Permanent linkB.Sc. (Biochemistry)
Shanghai University of Science and Technology, 1993.
Ph.D. (Genetics)
University of Leeds, 1999.
Description of Clinical Expertise
1. Diagnoses of congenital disorders of glycosylation by complexed carbohydrate analysis2. Genetic disorders in mitochondrial beta oxidation of fatty acids
3. Genetic disorders in cholesterol biogenesis
4. New biomarkers for lysosomal storage conditions
Description of Research Expertise
1. New genetic disorders in cholesterol biogenesis and the roles of sterols in overproliferative inflammatory skin disorders2. Glycomic biomarkers for inherited metabolic diseases
Selected Publications
Liu Y, Lam C, Poskanzer S, Thies J, Stevens H, Zhang W, Morava E, He M.: Expanded characterization of glycosylation abnormalities and galactose therapy in a patient with CCDC115-CDG using semi-quantitative N-glycan analysis of total and fractionated plasma glycoproteins, in response to Geerts et al. [1] Mol Genet Metab 147(3): 109708, Mar 2026.Berry GT, Vos EN, Demirbas D, Brucker W, Gilmartin A, Lehtinen MK, Yang E, Prabhu SP, Chen J, Huang X, Qi W, Bennett MJ, Haynes RL, Rodan L, Poduri A, Pearl PL, Rotenberg A, He M, Rubio-Gozalbo ME.: A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy. Mol Genet Metab 148: 109871, Mar 2026.
Starosta RT, He M, Gracie S, Kierstein J, Thiel C, Himmelreich N, Liu Y, Zhang W, Edmondson AC, Meeks N, Larson A, Van Hove JLK, Kochhar A.: L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers. Mol Genet Metab 147(3): 109727, Mar 2026.
Singh S, Menello C, Hong X, He M, Ganetzky RD.: Investigating Elevated Glutaric Acid in Early Infancy. J Appl Lab Med Feb 2026.
Kazem L, Al-Qabandi W, Albash B, Elshafie R, He M, Alsharhan H.: SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait. Mol Genet Metab Rep 45: 101269, Oct 2025.
Zhang H, Zhang J, Ma W, Ma X, He R, Ding Y, Liu Y, Zhang W, Dong H, Zhang Y, He M, Yang Y.: Multiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG. Mol Genet Metab 145(4): 109178, Aug 2025.
Miao He, Wenyue Zhang, Idris Wazeerud-din, Robin H Kemperman, Andy Edmondson, Eva Morava, Hudson Freeze: Discover intermediate metabolism in congenital disorders of glycosylation ICIEM annual meeting Aug 2025.
Naomi Vos E, Demirbas D, Rodan L, Yang E, Prabhu SP, Chen J, Huang X, Haynes RL, Lehtinen MK, Bennett MJ, He M, Pearl PL, Rubio-Gozalbo ME, Poduri A, Berry GT.: The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy. Ann Child Neurol Soc Aug 2025.
Wazeerud-Din IJ, Wong DA, Zhang W, Kuo CY, He M.: Congenital Disorder of Glycosylation in a 40-Year-Old Male with Hypogammaglobulinemia. Clin Chem 71: 821-823, Jul 2025.
Edmondson AC, Budhraja R, Xia Z, Melendez-Perez A, Cai C, Radenkovic S, Collins AM, Shiplett EJ, Hill SF, Somarowthu A, Dam J, Pai LL, Santi M, Kim S, He M, Goldberg EM, Kozicz T, Morava E, Pandey A, Zhou Z.: Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology. bioRxiv Jun 2025.