PEOPLE

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

Email: hem@email.chop.edu

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

Education

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

Assessment of VPS18 as candidate gene in an individual with undiagnosed disease and abnormal glycosylation

Mary Hackbarth,Megan S Kane, Mariska Davids,Miao He, Lynne Wolfe,David R. Adams, William A Gahl, May Christine V. Malicdan,, 2016 American Society of Cell Biology Annual meeting, 2017

ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG

Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, Tomas Honzik, MD , Hana Hansikova, , Katja S. Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut Cegielska, , Dieter Koch, Jozef Hertecant, Graeme Preston1, Jaak Jaeken, Nicole Peeters1, MS, Stefanie Perez1, David Do Nguyen1, Kea Crivelly, Tim Emmerzaa, K. Michael Gibson, , Kimiyo Raymond, Nurulamin BinAbuBakar, Francois Foulquier, Gernot Poschet, Amanda Ackermann, Miao He, , Dirk Lefeber, , Christian Thiel, Tamas Kozicz,and Eva Morava,, Genetics in Medicine, 2017

Hepatic SLC39A8/ZIP8 regulates whole-body manganese homeostasis and the activity of Mn-dependent enzymes

Wen Lin, David R. Vann,Paschalis-Thomas Doulias, Tao Wang,1 Gavin Landesberg, Xueli Li, Emanuela Ricciotti, Rosario Scalia, Miao He, Nicholas J. Hand, and Daniel J. Rader, Journal of Clinical Investigation, 2017

Type I Congenital Disorders of Glycosylation alter endoplasmic reticulum protein folding quality control process via aberrant glycan moieties

Andrew C. Edmondson, David Fan, Xueli Li, Yair Argon, Miao He,, 2017 ACMG Annual Clinical Genetics meeting, 2017

The role of proteotoxicity in the pathogenesis of NGLY1 deficiency

Miao He, Xueli Li, Jianping Kong, Min Peng , David Fan, Yair Argon, Marni J. Falk, 2017 ACMG Annual Clinical Genetics Meeting, 2017

Abnormal glycosylation in Joubert syndrome type 10

Megan S Kane, Ph.D.; Mariska Davids; Michelle R Bond; Christopher J Adams; Megan E Grout; Ian G Phelps; Diana R O'Day; Jennifer C Dempsey; Xeuli Li; Gretchen Golas; Gilbert Vezina; Meral Gunay-Aygun; John A Hanover; Dan Doherty; Miao He; May Christine V Malicdan; William A Gahl; Cornelius F Boerkoel, Cilia, 2017

Selective Detection of the D-enantiomer of 2-Hydroxyglutarate in the CSF of Glioma Patients with Mutated Isocitrate Dehydrogenase

Juliya Kalinina, Jun Ahn, Narra S. Devi, Liya Wang,Yuancheng Li, Jeffrey J. Olson, Michael Glantz,Thomas Smith, Ella L. Kim, Alf Giese, Randy L. Jensen, Clark C. Chen, Bob S. Carter, Hui Mao, Miao He, and Erwin G. Van Meir, Clinical cancer research 22(24): 6256-6265, 2016, PMID:27340277

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"Biomarkers for congenital disorders of glycosylation"

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

Investigation for Metabolic Diseases-Biochemical Studies

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