Dr. Raymond Y. Wang, Pediatric Metabolic Disorders
Raymond Wang, M.D. is the Director of the Multidisciplinary Lysosomal Storage Disorder Program at CHOC Children’s and a board certified clinical geneticist and biochemical genetics specialist. Dr. Wang is aware of the challenges faced by patients and families with rare diseases such as lysosomal storage disorders. He has committed the program to provide:
- Treatment for the lysosomal disorders that have existing therapies
- Access to investigational treatment for patients with disorders that currently have no approved / effective therapy, and
- Translational research vital to development of “next generation” treatments and cures for lysosomal storage disorder patients.
For more information about the Multidisciplinary Lysosomal Storage Disorder Program and its work, please refer to the following weblinks:
- MPS Center
- CHOC at forefront of treating Batten disease
- CHOC Metabolic Specialist Profiled in Science Magazine
- Physician Tenacity, Experimental Treatment Help Baby With Rare Disease
As an undergraduate, Dr. Wang attended Stanford University where he was a member of the Phi Beta Kappa honors society and graduated with a bachelor’s degree with Honors and Distinction in Biological Sciences. He earned his medical degree from the University of California, Los Angeles (UCLA) where he was a member of the Alpha Omega Alpha honors society. He completed his internship and residency in medical genetics and pediatrics at Cedars-Sinai Medical Center where he served as chief resident in his final year of training. Dr. Wang completed his fellowship in biochemical genetics at the UCLA Intercampus Medical Genetics Program.
In 2006, Dr. Wang received the American College of Medical Genetics and Genzyme Fellowship in Biochemical Genetics Award. In the same year, he also received the Cedars-Sinai Medical Center’s Paul Rubenstein Prize for Excellence in Resident Research.
Dr. Wang has been named an Orange County Clinical Biochemical Genetics Physician of Excellence in 2015, 2016, 2017, and 2018. He was nominated for a 2018 Global Genes RARE Champion of Hope Award for his work with children with rare metabolic conditions.
Lysosomal Storage Disorders, Mucopolysaccharidoses (MPS), Pompe Disease, Neuronal Ceroid Lipofuscinosis
Treating orthopedic manifestations of MPS, Cardiovascular disease in lysosomal storage disorders, Genomic therapies (gene therapy, CRISPR-gene editing)
CHOC Children’s Clinic
1201 W. La Veta Ave. Building: CHOC Clinic
Orange, CA 92868
- Medical School
UCLA School of Medicine, Los Angeles, CA
- Medical Genetics/Pediatrics Residency
Cedars-Sinai Medical Center, Los Angeles, CA
- Biochemical Genetics Fellowship
Cedars-Sinai Medical Center, Los Angeles, CA
- Associate Clinical Professor, Pediatrics
University of California, Irvine School of Medicine
- Clinical teaching faculty, Pediatrics
UCLA Intercampus Genetics Program
- Director, Multidisciplinary Lysosomal Storage Disorder Program, CHOC Children’s
- Metabolic Disorders, CHOC Children’s Specialists
Selected Lectures and Presentations
Sustained efficacy and safety of vestronidase alfa (rhGUS) enzyme replacement therapy in patients with MPS VII. 2018 Lysosomal Disease Network Meeting, San Diego, CA
Cardiovascular manifestations of feline Sandhoff disease after intravenous AAV gene therapy. 2017 Gordon Research Conference in Lysosomal Diseases, Barga, Italy
Aortic Root Dilatation in Mucopolysaccharidosis. 2016 American College of Cardiology Scientific Session, Chicago, IL
Carotid intima-media thickness and arterial stiffness of pediatric mucopolysaccharidosis patients are increased compared to both pediatric and adult populations. 2015 Lysosomal Disease Network Meeting, Orlando, FL
Aortic gene expression from the canine model of MPS I identifies upregulation of genes related to antigen presentation and inflammatory cytokines, and downregulation of cellular adhesion and cytoskeletal genes. 2014 Lysosomal Disease Network Meeting, San Diego
Aortic gene expression from the canine model of MPS I identifies upregulation of genes related to antigen presentation and inflammatory cytokines, and downregulation of cellular adhesion and cytoskeletal genes. 2013 International Congress of Inborn Errors of Metabolism, Barcelona, Spain
Intra-articular rhIDU administration in the canine model of MPS I is safe, well-tolerated, and reduces both joint tissue GAG storage and macrophage infiltration. 2012 Lysosomal Disease Network Meeting, San Diego, CA
- Society, Inherited Metabolic Disease
- Society, Study of Inborn Errors of Metabolism
Lew V, Pena L, Edwards R, Wang RY. “Cardiovascular Histopathology in an 11-Year Old With Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis,” J Inh Metab Dis Rep: 2018;39:31-37.
Wang RY, Rudser KD, Dengel DR, Braunlin EA, Steinberger J, Jacobs DR, Sinaiko AR, Kelly AS. The Carotid Intima-Media Thickness and Arterial Stiffness of Pediatric Mucopolysaccharidosis Patients Are Increased Compared to Both Pediatric and Adult Controls. Int J Mol Sci. 2017; 18. pii: E637
Bolourchi M, Renella P, Wang RY. Aortic root dilatation in mucopolysaccharidosis I-VII. Int J Mol Sci 2016;17. pii: E2004.
Mitchell J, Berger KI, Borgo A, Braunlin EA, Burton BK, Ghotme KA, Kircher SG, Molter D, Orchard PJ, Palmer J, Pastores GM, Rapoport DM, Wang RY, White K. Unique medical issues in adult patients with mucopolysaccharidoses.Eur J Intern Med. 2016; 34: 2-10.
Simonaro CM, Tomatsu S, Sikora T, Frohbergh M, Guevara Morales JM, Wang RY, Vera MU, Smith L, Kang J, Schuchman EH, Haskins ME. Pentosan Polysulfate: oral versus subcutaneous injection in mucopolysaccharidosis type I dogs. PLoS ONE 2016;11: e0153136.
Braunlin E, Wang R. Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs. Heart 2016; 102: 1257-1262.
Khalid O, Vera MU, Gordts PL, Ellinwood NM, Schwartz PH, Dickson PI, Esko JE, Wang RY. Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. PLoS ONE 2016;11: e0150850.
Wang RY, Aminian A, McEntee M, Kan H, Simonaro CM, Lamanna WC, Lawrence R, Ellinwood NM, Guerra C, Le SQ, Dickson PI, Esko, JD. Intra-articular rhIDUA administration in the canine model of MPS I is safe, well-tolerated, and reduces articular GAG storage in the canine model of MPS I.Mol Genet Metab 2014; 112: 286-293.
Wang RY, Braunlin EA, Rudser KD, Dengel DR, Metzig AM, Covault KK, Polgreen LE, Shapiro E, Steinberger J, Kelly AS. Carotid intima-media thickness is increased in patients with treated mucopolysaccharidosis types I and II, and correlates with arterial stiffness. Mol Genet Metab. 2014; 111: 128-132.
Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT. PLoS ONE. 2013; 8: e67052.
Prater SN, Banugaria SG, Dearmey SM, Botha EG, Stege EM, Case LE, Jones HM, Phornphutkul C, Wang RY, Young SP, Kishnani PS. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med. 2012 Apr 26 doi:10.1038/gim.2012.44
Wang RY, Covault KK, Halcrow EM, Gardner AJ, Cao X, Newcomb RL, Dauben RD, Chang AC. Carotid intima-media thickness is increased in patients with mucopolysaccharidoses. Mol Genet Metab 2011:104;592-596.
Wang RY, Bodamer OA, Watson MS, Wilcox WR; on behalf of the ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011; 13: 457-484.
Dr. Wang’s research concentrates upon a category of inherited conditions called lysosomal storage disorders, which result in severe, progressive multisystemic symptoms from ongoing accumulation of undegraded substrates within the lysosomal compartment of the cell. Previously untreatable and leading to early death, treatments to reduce the substrate storage such as hematopoietic stem cell transplantation and / or intravenous enzyme replacement therapy have beneficially changed the natural history of some lysosomal storage disorders.
As long-term survivors with storage disorders are becoming adolescents and young adults, progressive symptoms in other tissues resistant to these treatments have been recognized. Dr. Wang’s research focuses upon the development of treatment for these refractory organ systems, and upon the refinement of novel, non-invasive biomarkers to follow treatment progress and predict future outcomes.
Dr. Wang’s current research projects include:
- The Natural History of Cardiovascular Disease in the Mucopolysaccharidoses (Supported by CHOC Children’s Specialists)
- Intraarticular Gene Therapy for Canine Mucopolysaccharidosis Type I Joint Disease (Supported by the University of Pennsylvania Orphan Disease Center)
- Arterial Microanatomy and Gene Expression Profiles in Feline GM2 Gangliosidosis (Supported by CHOC Children’s Specialists and Children’s Hospital of Orange County)
- Generation and characterization of transgenic murine models of infantile-onset Pompe disease (Supported by the Campbell Foundation of Caring)
- Office: 714-509-8852
- Specialty: Metabolic Disorders
- Board Certified: Clinical Genetics, Clinical and Biochemical Genetics
- On Staff at: CHOC Children's Hospital
Dr. Raymond Wang discusses the symptoms and treatment options for Batten disease, also known as neuronal ceroid lipofuscinoses (NCL).