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 the roles of sterols in overproliferative inflammatory skin disorders

2. Glycomic biomarkers for inherited metabolic diseases

Clinical Expertise

1. Diagnoses of congenital disorders 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
Clinical Biochemical Genetics, University of Pittsburgh, 2006-2008

Awards and Honors

Young Scientist Award, Baogong Corporation Prize, 1992
National Model Student Award, P.R. China, 1993
Chinese National Student Representative, Pan-Pacific International Leadershp Conference, NY, 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

Glycomics in rare diseases: from diagnosis to mechanism.

Davids M, Kane MS, Wolfe LA, Toro C, Tifft CJ, Adams D, Li X, Raihan MA, He M, Gahl WA, Boerkoel CF, Malicdan MCV., Transl Res., 2018, PMID:30423312

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Defining a new immune deficiency syndrome, MAN2B2-CDG

Verheijen J, Wong SY, Rowe JH, He M, Notarangelo LD, Morava E, SSIEM annual meeting, 2018, Athens, Greece;, 2018

Diagnostic challenges in a patient with global developmental delay, lipodystrophy, periventricular leukomalacia and spasticity

Melissa J. MacPhersona,. Micheil Innesa, Lorne Seargeant, Miao He, Walla Al-Hertania, Canadian College of Medical Genetics 2018 Annual Meeting, 2018

Plasma N-glycan profiling for diagnosis of Congenital disorders of glycosylation (CDG) by flow injection-ESI-QTOF

Chen J, Bennett M, He M, American Society for Mass Spectrometry 67th Annual Meeting, 2018

Expanding the Clinical Phenotype of NUS1-CDG, a rare Congenital Disorder of Glycosylation

MacPherson MJ, He M, Al-Hertani W, Garrod Symposium 2018, 2018

Deciphering plasma N-glycan profiles for diagnosing congenital disorders of glycosylation

Miao He, Jie Chen , Xueli Li, Andrew Edmondson, Michael J Bennett,, ACMG Annual Meeting 2018, 2018

Exploring the clinical and biochemical presentation of type I congenital disorders of glycosylation (CDG)

Andrew C. Edmondson, MD, Jie Chen, , Sanmati Cuddapah, Can Ficicioglu, Rebecca Ganetzky, Lynne A. Ierardi-Curto, Staci Kallish, Marc Yudkoff, Michael Bennett, and Miao He,, 2018 SBP Rare Disease Day Symposium and CDG Family Conference, 2018

Mitochondrial function requires NGLY1.

Kong Jianping, Peng Min, Ostrovsky Julian, Kwon Young Joon, Oretsky Olga, McCormick Elizabeth M, He Miao, Argon Yair, Falk Marni J, Mitochondrion 38(): 6-16, 2018, PMID:28750948

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Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy.

Ortiz-González Xilma R, Tintos-Hernández Jesus A, Keller Kierstin, Li Xueli, Foley A Reghan, Bharucha-Goebel Diana X, Kessler Sudha K, Yum Sabrina W, Crino Peter B, He Miao, Wallace Douglas C, Bönnemann Carsten G, Annals of Neurology 83(1): 153-165, 2018, PMID:29283439

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ALG9-CDG: New clinical case and review of the literature.

Davis Kellie, Webster Duncan, Smith Chris, Jackson Sheryl, Sinasac David, Seargeant Lorne, Wei Xing-Chang, Ferreira Patrick, Midgley Julian, Foster Yolanda, Li Xueli, He Miao, Al-Hertani Walla, Molecular Genetics and Metabolism Reports 13(): 55-63, 2017, PMID:28932688

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