Patricia Dickson

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Division Chief, Genetics and Genomic Medicine
Centennial Professor of Pediatrics and Genetics, Division Chief
Researcher, Pediatric Research
Genetics and Genomic MedicinePediatric Research

phone: (314) 454-6093


  • BA, College of the University of Chicago1995
  • MD, Columbia University College of Physicians and Surgeons1999


  • Internship and Residency, Los Angeles County/Harbor-UCLA Medical Center1999 - 2002
  • Chief Residency, Los Angeles County/Harbor-UCLA Medical Center2002 - 2003
  • Fellowship, UCLA Intercampus Medical Genetics Training Program2003 - 2006

Licensure and Board Certification

  • 2000CA, Medical Board of California
  • 2000 - 2020CA, California medical license
  • 2002American Board of Pediatrics, General Pediatrics
  • 2002 - PresAmerican Board of Pediatrics
  • 2005American Board of Pediatrics, Clinical Genetics
  • 2005 - PresAmerican Board of Medical Genetics, Clinical Genetics
  • 2011American Board of Pediatrics, Medical Biochemical Genetics
  • 2011 - PresAmerican Board of Medical Genetics, Medical Biochemical Genetics
  • 2018 - PresMO, Missouri medical license

Honors and Awards

  • Alpha Omega Alpha Student Essay Competition, Honorable Mention, Columbia University College of Physicians and Surgeons, New York, NY1996
  • Primary Care Fellowship, Columbia University College of Physicians and Surgeons, New York, NY1996
  • David Imagawa Memorial Fellowship Travel Award, Harbor-UCLA, Torrance, CA2001
  • Federation of Pediatric Organizations Women in Pediatrics Task Force2003 - 2006
  • NIH National Research Service Award Fellowship, UCLA Intercampus Genetics Training Program, Los Angeles, CA2005 - 2006
  • Liu Young Investigator Award Finalist, Los Angeles Biomedical Research Institute at Harbor-UCLA, Torrance, CA2007
  • Organizing Committee, Challenges in Research in CNS Manifestations of Inborn Errors of Metabolism Workshop, jointly sponsored by NIH ORDR, NIH NINDS, and FDA CDER2009 - 2009
  • CTSI Maternal Child and Adolescent Health Award, UCLA, Los Angeles, CA2011
  • Richard B. Weitzman Memorial Award for Meritorious Research, Los Angeles Biomedical Research Institute at Harbor-UCLA, Torrance, CA2011
  • Young Investigator Award, Los Angeles Biomedical Research Institute at Harbor-UCLA, Torrance, CA2011
  • Centennial Professor Endowed Chair2019
  • American Society for Clinical Investigation2021

Recent Publications view all (85)

  1. Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep. J Clin Invest. 2022. PMID:36040802 
  2. Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation. J Biol Chem. 2022;298(8):102159. PMCID:PMC9364035  PMID:35750212 
  3. From karyotypes to precision genomics in 9p deletion and duplication syndromes. HGG Adv. 2022;3(1):100081. PMCID:PMC8756500  PMID:35047865 
  4. Neuropathology of murine Sanfilippo D syndrome. Mol Genet Metab. 2021;134(4):323-329. PMID:34844863 
  5. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021;23(10):2016. PMID:34522029 
  6. A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1. Mol Genet Metab Rep. 2021;28:100772. PMCID:PMC8170172  PMID:34113546 
  7. Mucopolysaccharidoses type I gene therapy. J Inherit Metab Dis. 2021. PMID:34189746 
  8. Evaluation of artificial signal peptides for secretion of two lysosomal enzymes in CHO cells. Biochem J. 2021;478(12):2309-2319. PMID:34032266 
  9. A GH89 human α-N-acetylglucosaminidase (hNAGLU) homologue from gut microbe Bacteroides thetaiotaomicron capable of hydrolyzing heparosan oligosaccharides. AMB Express. 2021;11(1):94. PMCID:PMC8225759  PMID:34165649 
  10. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021. PMID:34163037 
  11. Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome. Mol Genet Metab. 2021;133(2):185-192. PMCID:PMC8195848  PMID:33839004 
  12. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19(1):77-102. PMID:33406487 
  13. Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α-N-Acetylglucosamine-6-Sulfatase in Neonatal Mice. Mol Pharm. 2021;18(1):214-227. PMID:33320673 
  14. Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience. Int J Neonatal Screen. 2020;6(4). PMCID:PMC7712368  PMID:33227921 
  15. Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice. Lipids. 2020;55(6):627-637. PMID:32537944 
  16. Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. JIMD Rep. 2020;56(1):40-45. PMCID:PMC7653242  PMID:33204595 
  17. Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy. Clin Chim Acta. 2020;508:179-184. PMID:32442432 
  18. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. Am J Med Genet A. 2020;182(5):1053-1065. PMID:32083401 
  19. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. J Natl Compr Canc Netw. 2020;18(4):380-391. PMID:32259785 
  20. Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I. Mol Genet Metab. 2020;129(2):91-97. PMCID:PMC7219480  PMID:31630958 
  21. Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study. Mol Genet Metab. 2019. PMID:31839529 
  22. A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation. Mol Genet Metab Rep. 2019;20:100484. PMCID:PMC6603334  PMID:31304092 
  23. C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. N Engl J Med. 2019;381(1):25-35. PMID:31269546 
  24. In-vivo cortical thickness estimation from high-resolution T1w MRI scans in healthy and mucopolysaccharidosis affected dogs. Conf Proc IEEE Eng Med Biol Soc. 2019;2019:2848-2851. PMID:31946486 
  25. Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes. Genet Med. 2019. PMID:31019279 
  26. Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice. Mol Ther Methods Clin Dev. 2018;10:113-127. PMCID:PMC6076361  PMID:30101150 
  27. Community Partnership in Precision Medicine: Themes from a Community Engagement Conference. Ethn Dis. 2018;28(Suppl 2):503-510. PMCID:PMC6128349  PMID:30202204 
  28. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018;103(3):456. PMCID:PMC6128320  PMID:30193138 
  29. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018;103(2):245-260. PMCID:PMC6081494  PMID:30057031 
  30. A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I. Mol Ther Methods Clin Dev. 2018;8:42-51. PMCID:PMC5684429  PMID:29159202 
  31. Diffusion tensor imaging findings suggestive of white matter alterations in a canine model of mucopolysaccharidosis type I. Neuroradiol J. 2018;31(1):90-94. PMCID:PMC5789994  PMID:28695759 
  32. Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy. Brain. 2018;141(1):99-116. PMID:29186350 
  33. Treatment of brain disease in the mucopolysaccharidoses. Mol Genet Metab. 2017;122S:25-34. PMID:29153844 
  34. Quantitative diffusion tensor imaging analysis does not distinguish pediatric canines with mucopolysaccharidosis I from control canines. Neuroradiol J. 2017;30(5):454-460. PMCID:PMC5602339  PMID:28703635 
  35. Diffusion tensor imaging tensor shape analysis for assessment of regional white matter differences. Neuroradiol J. 2017;30(4):324-329. PMCID:PMC5524281  PMID:28631949 
  36. Novel region of interest interrogation technique for diffusion tensor imaging analysis in the canine brain. Neuroradiol J. 2017;30(4):339-346. PMCID:PMC5524282  PMID:28627967 
  37. Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. Mol Genet Metab Rep. 2017;10:75-80. PMCID:PMC5238608  PMID:28119823 
  38. Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I. Am J Med Genet A. 2017;173(3):780-783. PMCID:PMC5367919  PMID:28211988 
  39. Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. Sci Rep. 2016;6:38305. PMCID:PMC5133554  PMID:27910891 
  40. Behavioral deficits and cholinergic pathway abnormalities in male Sanfilippo B mice. Behav Brain Res. 2016;312:265-71. PMCID:PMC4970944  PMID:27340089 
  41. Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI. Mol Genet Metab. 2016;117(4):427-30. PMCID:PMC4851859  PMID:26873528 
  42. Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. PLoS One. 2016;11(3):e0150850. PMCID:PMC4795702  PMID:26986213 
  43. Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction. Mol Genet Metab. 2016;117(2):66-83. PMID:26597321 
  44. Predicting degree of myelination based on diffusion tensor imagining of canines with mucopolysaccharidosis type I. Neuroradiol J. 2015;28(6):562-73. PMCID:PMC4757141  PMID:26475483 
  45. Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I. Data Brief. 2015;5:71-6. PMCID:PMC4573094  PMID:26484358 
  46. Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I. Exp Neurol. 2015;273:1-10. PMCID:PMC4644459  PMID:26222335 
  47. Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I. Mol Genet Metab. 2015;116(1-2):69-74. PMCID:PMC4572891  PMID:26260077 
  48. The individual (single patient) IND for inborn errors of metabolism. Mol Genet Metab. 2015;116(1-2):1-3. PMID:25456747 
  49. Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1. Mol Genet Metab. 2015;116(1-2):75-9. PMCID:PMC4633280  PMID:26189084 
  50. A novel, long-lived, and highly engraftable immunodeficient mouse model of mucopolysaccharidosis type I. Mol Ther Methods Clin Dev. 2015;2:14068. PMCID:PMC4449030  PMID:26052536 
  51. Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing. Nephrol Dial Transplant. 2014;29(12):2235-43. PMCID:PMC4240183  PMID:25378588 
  52. Intrathecal delivery of protein therapeutics to the brain: a critical reassessment. Pharmacol Ther. 2014;144(2):114-22. PMID:24854599 
  53. Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB. Proc Natl Acad Sci U S A. 2014;111(41):14870-5. PMCID:PMC4205671  PMID:25267636 
  54. Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I. Mol Genet Metab. 2014;112(4):286-93. PMCID:PMC4122635  PMID:24951454 
  55. Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts. Biochem J. 2014;458(2):281-9. PMCID:PMC3993987  PMID:24266751 
  56. Glycan-based biomarkers for mucopolysaccharidoses. Mol Genet Metab. 2014;111(2):73-83. PMCID:PMC3769472  PMID:23958290 
  57. Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients. Pediatr Res. 2013;74(6):712-20. PMCID:PMC3855632  PMID:24002329 
  58. Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type I. Comp Med. 2013;63(2):163-73. PMCID:PMC3625057  PMID:23582423 
  59. Mannose 6-phosphate conjugation is not sufficient to allow induction of immune tolerance to phenylalanine ammonia-lyase in dogs. JIMD Rep. 2013;8:63-72. PMCID:PMC3565636  PMID:23430522 
  60. Delivering drugs to the central nervous system: an overview. Drug Deliv Transl Res. 2012;2(3):145-51. PMID:25786863 
  61. Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I. Mol Genet Metab. 2012;106(1):68-72. PMCID:PMC3336016  PMID:22402327 
  62. Biochemical characterization of fluorescent-labeled recombinant human alpha-L-iduronidase in vitro. Biotechnol Appl Biochem. 2011;58(6):391-6. PMCID:PMC3293367  PMID:22172101 
  63. Glycosaminoglycan storage in neuroanatomical regions of mucopolysaccharidosis I dogs following intrathecal recombinant human iduronidase. APMIS. 2011;119(8):513-21. PMCID:PMC3137268  PMID:21749451 
  64. Ocular lesions in canine mucopolysaccharidosis I and response to enzyme replacement therapy. Invest Ophthalmol Vis Sci. 2011;52(8):5130-5. PMID:21436264 
  65. Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients. Curr Pharm Biotechnol. 2011;12(6):946-55. PMID:21506913 
  66. Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. Lab Invest. 2011;91(5):665-74. PMCID:PMC3084338  PMID:21383673 
  67. Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab. 2011;102(3):326-38. PMCID:PMC3040279  PMID:21176882 
  68. Index of suspicion, case 3: Hyperimmunoglobulin D syndrome Pediatr Rev. 2011;32:299-305. 
  69. Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med. 2010;2(60):60ra89. PMCID:PMC3075726  PMID:21123810 
  70. Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I. Mol Genet Metab. 2010;101(2-3):115-22. PMCID:PMC2950221  PMID:20655780 
  71. Hereditary multiple exostoses with spine involvement in a 4-year-old boy. Am J Med Genet A. 2010;152A(5):1264-7. PMID:20425833 
  72. Intrathecal enzyme replacement therapy to treat spinal cord compression in mucopolysaccharidosis: Overview and rationale. J Pediatr Rehabil Med. 2010;3(1):7-11. PMID:21791827 
  73. Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs. J Inherit Metab Dis. 2009;32 Suppl 1:S253-8. PMCID:PMC2889197  PMID:19562502 
  74. Inadvertent propagation of factor VII deficiency in a canine mucopolysaccharidosis type I research breeding colony. Comp Med. 2009;59(4):378-82. PMCID:PMC2779214  PMID:19712579 
  75. Novel treatments and future perspectives: outcomes of intrathecal drug delivery. Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S124-7. PMID:20040323 
  76. Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression Am J Med Genet A. 2008;epub. 
  77. Immune tolerance improves the efficacy of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. J Clin Invest. 2008;118:2868-76 with introduction by K. Ponder at pp. 2686-89. 
  78. Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid. Mol Genet Metab. 2007;91:61-68. 
  79. ETHE1 mutations are specific to Ethylmalonic Encephalopathy. J Med Genet. 2006;43:340-6. 
  80. Penetration, diffusion and uptake of recombinant human α-L-iduronidase after intraventricular injection into the rat brain. 86:141-149, 2005 Mol Genet Metab. 2005;86:141-149. 
  81. Costello syndrome with pancreatic islet cell hyperplasia. Am J Med Genet A. 2004;130A(4):402-5. PMID:15384101 
  82. Normal right and left ventricular mass development during early infancy. Am J Cardiol. 2004;93(6):797-801. PMID:15019899 
  83. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. ol Genet Metab. 2004;83:163-174. 
  84. Normal right and left ventricular mass development during early infancy. Am J Cardiology. 2004;93:797-801. 
  85. Test characteristics of the respiratory syncytial virus enzyme-linked immunoabsorbent assay in febrile infants < or = 60 days of age. Clinics in Pediatrics. 2002;41:415-8. 
Last updated: 09/07/2022
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