Profile

Angela Sun, MD

Angela Sun, MD

Biochemical Genetics, Genetics

On staff since August 2012

Academic Title: Assistant Professor

Research Center: Center for Clinical and Translational Research

    • Lexie Wenatchee WA 06.13.13

      Dr. Sun is very knowledgeable and thorough. She doesnt let things slip through the cracks. She seems to really care about her patients. We are so blessed to have been able to work with her.

  • Award Name Award Description Awarded By Award Date
    Medical Genetics Institute Sports Spectacular Endowed Fellow Cedars-Sinai Medical Center 2011
    Leo G. Rigler Award for outstanding academic achievement Cedars-Sinai Medical Center 2011
    Alice and Y.T. Chen Scholarship ACMG Annual Clinical Genetics Meeting 2011
    Genzyme Biochemical Genetics training grant Genzyme 2011 - 2012
    • Sun A.
      Glucose-6-phosphatase deficiency (glycogen storage disease I, von Gierke disease).
      : UpToDate, revised 3/25/15, 9/23/16
    • Phowthongkum P, Sun A
      Novel truncating variant in DNA2-related congenital myopathy and ptosis suggests genotype-phenotype correlation
      Submitted to Neuromuscular Disorders , 2016 Sept. 15
    • Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A
      Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
      27170158 American journal of medical genetics. Part A , 2016 Aug. : 170(8)2181-5
    • Sun A, Merritt JL.
      Orphan drugs in development for long-chain fatty acid oxidation disorders: challenges and progress.
      Orphan Drugs: Research and Reviews , 2015 Apr, 28 : Volume 2015:5 33–41
    • Sun A, Adam MP
      Genetics and Inborn Errors of Metabolism
      McGraw-Hill Specialty Board Review: Neonatal-Perinatal Medicine , 2015 : In: Moore J, Carlton D, Adams-Chapman I (eds.),(McGraw-Hill)
    • Xue Y, Sun A, Mekikian PB, Martin J, Rimoin DL, Lachman RS, Wilcox WR
      FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry
      PMID 25614871 Mol Genet Genomic Med , 2014 Nov. : 2(6)497-503 PMCID: PMC4303219
    • Sun A, Wang R, Puliyanda D
      CYSTIC DISEASES OF THE KIDNEY
      Rimoin DL, Connor JM, Pyeritz RE, Korf BR (eds.), Principles and Practice of Medical Genetics, London, Harcourt Publishers , 2013
    • Barajas BD, Sun A, Rimoin DL, Reinstein E
      Recurrent Compartment Syndrome in a Patient with Clinical Features of a Connective Tissue Disorder
      PMID 23633393; PMC3664124 Am J Med Genet A , 2013 : 161(6)1442-6
    • Sun A, Lam C, Wong DA
      Expanded Newborn Screening for Inborn Errors of Metabolism: Overview and Outcomes.
      22789580 Adv Pediatr , 2012 : 59(1)209-45
    • Sun A, Hopwood J, Thompson J, Cederbaum S
      Combined Hurler and Sanfilippo Syndrome in a Sibling Pair.
      22789580 Mol Genet Metab , 2011 : 103(2)135-7

  • Presentations Title Event Location Date
    Novel Therapies in Inborn Errors of Metabolism University of Washington Medical Genetics Seminar Series University of Washington, Seattle, WA May 5, 2017
    Biallelic Acute Intermittent Porphyria Seattle Childrens Hospital Inborn Errors of Metabolism Conference Seattle, WA Sept. 2, 2015
    Dietary Treatment of Pyridoxine-Dependent Epilepsy Dietary Treatment of Pyridoxine-Dependent Epilepsy Seattle, WA April 1, 2015
    Glycine encephalopathy Seattle Children's Hospital NICU Mortality Conference Seattle, WA March 6, 2015
    Expansion of the Phenotype Associated with NAA10 Mutations Pacific Northwest Genetics Exchange University of Washington, Seattle, WA May 9, 2014
    2 Case Presentations: Congenital Cataracts and Rhabdomyolysis Seattle Childrens Hospital Inborn Errors of Metabolism Conference Seattle, WA May 7, 2014
    Gaucher Disease Overview Seattle Childrens Hospital Hematopathology Conference Seattle, WA Feb. 6, 2014
    The Hematologic Presentation of Gaucher Disease Seattle Childrens Hospital Inborn Errors of Metabolism Conference Seattle, WA Dec. 4, 2013
    An Open-Label Study Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase in Pediatric Patients with Hunter Syndrome and Cognitive Impairment Division of Genetic Medicine Research Day University of Washington, Seattle, WA Feb. 26, 2013
    Zellweger syndrome case presentation and review of Peroxisome Biogenesis Disorders Seattle Childrens Hospital Inborn Errors of Metabolism Conference Seattle, WA Feb. 6, 2013
    Pompe Disease in Washington State: Clinical Experience and Mutation Update ACMG Clinical Genetics Meeting 2013 Phoenix, AZ 2013
    An Unusual Presentation of Glutaric Acidemia Type II Seattle Childrens Hospital Inborn Errors of Metabolism Conference Seattle, WA Sept. 5, 2012
    Pulmonary Function and Exercise Intolerance in Boys with Fabry Disease 8th Annual WORLD Symposium 2012 San Diego, CA 2012
    Retinitis Pigmentosa, a Previously Unreported Finding in Glutaric Acidemia Type II 35th Annual Society of Inherited Metabolic Disease Meeting, 2012 Charlotte, North Carolina 2012
    Genetic and Metabolic Causes of Neonatal Seizures Cedars-Sinai Medical Center, Department of Pediatrics case conference Los Angeles, CA Nov. 3, 2011
    Compartment Syndrome: a Rare Complication of Ehlers-Danlos Syndrome Type IV Western Society of Pediatric Research, 2011 2011
    Branchio-Oto-Renal Syndrome in an Extended Pedigree David W. Smith Workshop on Malformations and Morphogenesis, 2011 Lake Arrowhead, CA 2011
    Genomic Imprinting Cedars-Sinai Medical Center, Department of Pediatrics case conference Los Angeles, CA June 8, 2010
  • Grant Title Grantor Amount Award Date
    Lysosomal Storage Disorders (LSD) Registries Program Genzyme Corporation 2016 - 2017
    Hunter Outcome Study: A Global, Multi-Center, Long-Term, Observational Survey of Patients with Hunter Syndrome (Mucopolysaccharidosis II) Shire Company 2016 - 2017
    Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program BioMarin Pharmaceutical, Inc. 2016 - 2017
    Morquio A Registry Study (MARS) 110-504 Shire Company 2014 - 2017
    An Open Label Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase IT Administered in Conjunction with Intravenous Elaprase in Pediatric Patients with Hunter Syndrome and Cognitive Impairment Shire Company 2012 - 2017

Overview

Board Certification(s)

Medical Biochemical Genetics
Clinical Genetics (MD)

Medical/Professional School

Saint Louis University School of Medicine, St Louis

Residency

Pediatrics, University of California - Irvine, Irvine

Fellowship

Medical Genetics, University of California - Los Angeles, Los Angeles
Medical Biochemical Genetics, University of California - Los Angeles, Los Angeles

Clinical Interests

Inborn errors of metabolism, neurometabolic disorders