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
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.Emilie Théberge MSc, Khashayar Hanjani, Jennifer Monaghan, Bojana Rakic, Graham Sinclair, Miao He, Thomas Roston, Nathaniel Hawkins, Anna Lehman: Late-onset nonischemic cardiomyopathy from dolichol kinase deficiency garrod symposium 2025 May 2025.
Idris J. Wazeerud-Din, Derek A. Wong, Wenyue Zhang, Caroline Y. Kuo, Miao He: Congenital Disorder of Glycosylation in a 40-Year-old male with hypogammaglobulinemia. clin chem April 2025 Notes: accepted.
Robin Larson, Raquel Fernandez, Andrew C. Edmondson, Bobby G. Ng, Carlos R. Ferreira, Christina Lam, Daniel Beltran, Dulce Quelhas, Essence Kendall, Hongjie Chen, Hudson H. Freeze, Jennifer Goldstein, Jennifer McGlaughon, Jenny Thies, Lois Lander, Matthew P. Wilson, Meredith A. Weaver, Miao He, Monica Penon Portmann, Eva Morava, Heather Baudet: The ClinGen Congenital Disorders of Glycosylation Gene Curation Expert Panel. ACMG 2025 annual meeting Mar 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 2025.
Shirakura T, Krishnamoorthy L, Paliwal P, Hird G, McCluskie K, McWilliams P, He M, Ismaili MHA.: In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts. Mol Genet Metab Page: 108531, September 2024.
Daniel EJP, Edmondson AC, Argon Y, Alsharhan H, Lam C, Freeze HH, He M.: Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG. J Inherit Metab Dis 47(4): 766-777, July 2024.
Rodrigo Tzovenos Starosta, Angela J Lee, Elizabeth R Toolan, Miao He, Parith Wongkittichote, Earnest James Paul Daniel, Silvia Radenkovic, Rohit Budhraja , Akhilesh Pandey, Jaiprakash Sharma, Eva Morava, Hoanh Nguyen, Patricia I Dickson: D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG). Mol Genet Metab 142(2): 108488, Jun 2024.
Shah R, Eklund EA, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, Ng BG, Freeze HH, Edmondson AC, He M, Kozicz T, Altassan R, Morava E.: ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines. Mol Genet Metab Page: 108472, Jun 2024.
Rodrigo Tzovenos Starosta, Angela J. Lee1, Elizabeth R. Toolan, Miao He, Parith Wongkittichote, Earnest James Paul Daniel, Silvia Radenkovic, Rohit Budhraja, Akhilesh Pandey, Jaiprakash Sharma, Eva Morava, Hoanh Nguyen, Patricia I. Dickson: D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG). SIMD 2024 annual meeting April 2024.