Miao He, PhD

Assistant Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
University of Pennsylvania Perelman School of Medicine

Contact InformationThe Children's Hospital of Philadelphia
Department of Pathology and Laboratory Medicine
34th & Civic Center Boulevard
Philadelphia, PA 19103


Research Expertise

1. new genetic disorders in cholesterol biogenesis and their role in overproliferative inflammatory skin disorders

2. Glycomics Biomarkers for inherited metabolic diseases

Clinical Expertise

1. Diagnosis of congenital disorder of glycosylation by complexed carbohydrate analysis

2. Genetic disorders in mitochondrial beta oxidation of fatty acids

3. Genetic disorders in cholesterol biogenesis

4. New biomarkers for lysosomal storage conditions


B.Sc. (Biochemistry), Shanghai University of Science and Technology, 1993
Ph.D. (Genetics), University of Leeds, 1999

Specialty Certification

Fellow, American Board of Medical Genetics (clinical biochemical genetics), 2009

Postgraduate Training

Medical Genetics, Mayo Medical School, 1999-2004
Clininical Biochemical Genetics, Univeristy of Pittsburgh, 2006-2008

Awards and Honors

Young Scientist Award, Baogong Corporation Prize, 1992
Chinese National Student Representative, Pan-Pacific International Leadershp Conference, NJ, 1993
Natonal Model Student Award, P.R. China, 1993
Young Investigator Awards, Society of Inherited Metabolic Disorders, 2003-2007
Travel Award, Brain Uptake and Utilization of Fatty Acids-International Workshop, 2004
The SIMD/Ucycled fellowship award, Society of Inherited Metabolic Disorder, 2006-2008
The Neil Buist Award For The Best Presentation at SIMD Annual Meeting, 2007
CCRRD Meeting Travel Award, NIH Office of Rare Disease, 2010
NIH Sterol and Isoprenoid Related Disease Consortium Career Development Award, 2010-2012
CCRRD Meeting Travel Award, NIH Office of Rare Disease, 2013

Memberships and Professional Organizations

American Society of Human Genetics, 2000 - Present
Society for Inherited Metabolic Disorders, 2000 - Present
American College of Human Genetics, 2009 - Present

Web Links

Selected Publications

Investigation for Metabolic Diseases-Biochemical Studies

Miao He, K. M. Gibson, Inherited Metabolic Diseases, 2016

"Biomarkers for congenital disorders of glycosylation"

Rebecca Ganetzky, Francis J Reynoso, Miao He, Biomarkers in inborn errors of metabolism, 2016

ALG1-CDG: Clinical and molecular characterization of 39 unreported patients.

Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Fusun Alehan, Midro Alina, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O'Connor, Gregory M. Cooper, Rudy Van Coster, Laurie A. Demmer, Luisa Diogo, Alexander J. Fay, Can Ficicioglu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goe, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip M. James, Daniel Katz, Liesbet Keldermans, Maria Kibaek, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A. Nickerson, Heidi L. Peters, Valerie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, University of Washington Center for Mendelian Genomics, Erika Souche, Susan E. Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Y. Wang, Lynne A. Wolfe , Derek A. Wong, Tim Wood, Amy C. Yang, Gert Matthijs, Hudson H. Freeze, Human Mutation, 2016

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

Mariska Davids, Megan S Kane, Miao He, Lynne A Wolfe, Xueli Li, Mohd A Raihan, Katherine R Chao, William P Bone, Cornelius F Boerkoel, William A Gahl, Camilo Toro, Journal of Medical Genetics, 2015, PMID:26668131

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A Novel N-tetrasccharide in patients with congenital disorders of glycosylation including asparagine-linked glycosylation protein 1, phosphomannomutase 2 and phosphomannose isomerase deficiencies

Wenyue Zhang, Philip M James, Bobby G. Ng, Xueli Li, Baoyun Xia, Jiang Rong, Ghazia Asif, Kimiyo Raymond, Melanie A Jones, Madhuri Hegde, Tongzhong Ju, Richard D. Cummings, Katie Clarkson, Tim Wood, Cornelius. F. Boerkoel, Hudson H.Freeze, Miao He, Clinical Chemistry In Press(): , 2015

Comprehensive Glycomics Analysis by MALDI TOF/MS in Human CSF.

Xueli Li, Mariska Davids, Megan Kane, Lynne Wolfe, Mohd Raihan, Cornelius Boerkoe, William Gah,. Miao He., The 65th Annual Meeting of The American Society of Human Genetics, October 7, 2015 in Baltimore, MD., 2015

An agnostic screen of protein glycosylation in the attempt to diagnose rare genetic disorders and unravel mechanism of disease

Mariska Davids, Megan S Kane, Miao He, Cornelius F. Boerkoel, William A Gahl, The 65th Annual Meeting of The American Society of Human Genetics, October 7, 2015 in Baltimore, MD, 2015

NGLY1 deficiency causes mitochondrial dysfunction and induces oxidative stress

Jianping Kong, Min Peng, Eiko Nakamaru-Ogiso, Miao He, Julian Ostrovsky, Young-Joon Kwon, Elizabeth McCormick, Tadashi Suzuki, Yair Argon, Marni J. Falk, The 65th Annual Meeting of The American Society of Human Genetics, October 7, 2015 in Baltimore, MD, 2015

Glycosylation Analysis for Congenital Disorder of Glycosylation

Xueli Li, Mohd A Raihan, Francis Jeshira Reynoso, Miao He, Curr Protoc Hum Genet 86(17): 1-17, 2015, PMID:26132001

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Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decreased glycosylation precursors

Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH, Human Molecular Genetics 24(11): 3050-7, 2015, PMID:25678555

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