BruceAllenBarshopMD

Medical Genetics • San Diego, CA

Clinical Biochemical Genetics, Clinical Biochemical/Molecular Genetics

Professor, Pediatrics, UCSD School of Medicine

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Office
3020 Childrens Way
San Diego, CA 92123
Phone+1 619-543-7800
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Education & Training

University of California (San Diego) Medical CenterResidency, Pediatrics, 1991 - 1992
University of California (San Diego) Medical CenterResidency, Pediatrics, 1984 - 1986
Washington University in St. Louis School of MedicineClass of 1984

Certifications & Licensure

CA State Medical License 1986 - 2024
American Board of Medical Genetics and Genomics Clinical Biochemical/Molecular Genetics

Clinical Trials

Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Start of enrollment: 2009 May 01
Completed
Phase 1, Phase 2
Treatment Protocol of Replagal for Patients With Fabry Disease
No longer available
Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Start of enrollment: 2010 Dec 01
Terminated
Phase 2
Extension Study for Patients Who Have Participated in a BMN 701 Study Start of enrollment: 2011 Aug 15
Terminated
Phase 2
Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia Start of enrollment: 1998 Sep 01
Completed
Phase 2
Study of Homocysteine Metabolism in Homocystinuria Start of enrollment: 1995 Feb 01
Completed
Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease Start of enrollment: 1996 Feb 01
Completed
Phase 2
Stem Cell Gene Therapy for Cystinosis Start of enrollment: 2019 Jul 08
Active, not recruiting
Phase 1, Phase 2
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Publications & Presentations

PubMed

3 citations
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised p...
Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn A Hughes, Robert J Hopkin, Camilla Tøndel, Mirjam ...> ;Journal of Medical Genetics. 2023 Nov 8
7 citations
Tumor Metabolism and Neurocognition in CNS Lymphoma
Huimin Geng, Mazie Tsang, Lakshmipriya Subbaraj, Joseph C. Cleveland, Lingjing Chen, Ming Lu, Jigyasa Sharma, Daniel B. Vigneron, John Kurhanewicz, Marisa Lafontaine, ...> ;Neuro-Oncology. 2021 Oct 1
10 citations
Dairy Fat Intake, Plasma Pentadecanoic Acid, and Plasma Iso-heptadecanoic Acid Are Inversely Associated With Liver Fat in Children.
Mary Catherine Sawh, Martina Wallace, Emma Shapiro, Nidhi Goyal, Kimberly P. Newton, Elizabeth L. Yu, Craig Bross, Janis Durelle, Cynthia Knott, Jon A. Gangoiti, Bruce...> ;Journal of Pediatric Gastroenterology and Nutrition. 2021 Apr 1
5 citations
Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride
Garen Gaston, Jon A. Gangoiti, Shelley R. Winn, Benjamin Chan, Bruce A. Barshop, Cary O. Harding, Melanie B. Gillingham> ;Journal of Inherited Metabolic Disease. 2020 Nov 1
24 citations
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Cristan Farmer, Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Amanda Bennett, Leandra N. Berry, Aleksandra Bruchey, Bruce A. Barshop, Elizabeth Berry-...> ;American Journal on Intellectual and Developmental Disabilities. 2020 Nov 1
17 citations
Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes.
Jennifer Concepcion, Katherine Chen, Rintaro Saito, Jon A. Gangoiti, Eric Mendez, Maria Eleni Nikita, Bruce A. Barshop, Loki Natarajan, Kumar Sharma, Jane J. Kim> ;Plos One. 2020 Jun 26
9 citations
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Bernd C. Schwahn, Thomas Scheffner, Hedwig Stepman, Patrick Verloo, A.M. Das, Janice M. Fletcher, Henk J. Blom, Jean-François Benoist, Bruce A. Barshop, Jaime Barea, A...> ;JIMD Reports. 2020 Jan 8
6 citations
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypic...
Miles D. Thompson, Alexej Knaus, Bruce A. Barshop, Almuth Caliebe, Hiltrud Muhle, Thi Tuyet Mai Nguyen, Nissan V. Baratang, Taroh Kinoshita, Maire E. Percy, Philippe M...> ;European Journal of Medical Genetics. 2020 Apr 1
8 citations
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.
William L. Nyhan, Karen A. McGowan, Bruce A. Barshop> ;Clinica Chimica Acta; International Journal of Clinical Chemistry. 2019 Dec 1
49 citations
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Ashleigh E. Schaffer, Martin W. Breuss, Ahmet Okay Caglayan, Nouriya Al-Sanaa, Hind Y. Al-Abdulwahed, Hande Kaymakçalan, Cahide Yilmaz, Maha S. Zaki, Rasim Ozgur Rosti...> ;Nature Genetics. 2018 Jul 16
2 citations
Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.
Charles Q. Li, Bruce A. Barshop, Annette Feigenbaum, Paritosh C. Khanna> ;Journal of Radiology Case Reports. 2018 Jan 31
111 citations
Promises and pitfalls of untargeted metabolomics
Ilya Gertsman, Bruce A. Barshop> ;Journal of Inherited Metabolic Disease. 2018 Mar 13
24 citations
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard J. Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforêt, Eugen Mengel, Mark Rober...> ;Orphanet Journal of Rare Diseases. 2017 Aug 24
1 citations
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
Shane C. Quinonez, Andrea H. Seeley, Cindy Lam, Thomas W. Glover, Bruce A. Barshop, Catherine E. Keegan> ;JIMD Reports. 2016 Aug 13
8 citations
The mPEG-PCL Copolymer for Selective Fermentation of Staphylococcus lugdunensis Against Candida parapsilosis in the Human Microbiome
Ming-Shan Kao, Yanhan Wang, Shinta Marito, Stephen Huang, Wan-Zhen Lin, Jon A. Gangoiti, Bruce A. Barshop, Choi Hyun, Woan-Ruah Lee, James A. Sanford, Richard L. Gallo...> ;Journal of Microbial & Biochemical Technology. 2016 Jun 19
41 citations
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference
Craig B. Langman, Bruce A. Barshop, Georges Deschênes, Francesco Emma, Paul Goodyer, Graham Lipkin, Julian P. Midgley, Chris Ottolenghi, Aude Servais, Neveen A. Solima...> ;Kidney International. 2016 Jun 1
18 citations
p300 is not required for metabolic adaptation to endurance exercise training
Samuel LaBarge, Christopher Migdal, Elisa H. Buckner, Hiroshi Okuno, Ilya Gertsman, Ben Stocks, Bruce A. Barshop, Sarah Nalbandian, Andrew Philp, Carrie E. McCurdy, Si...> ;FASEB Journal. 2016 Apr 1
9 citations
Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes.
Ilya Gertsman, Wynonna S. Johnson, Connor Nishikawa, Jon A. Gangoiti, Bonnie Holmes, Bruce A. Barshop> ;Clinical Chemistry. 2016 May 1
5 citations
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.
Thomas Opladen, Martin Lindner, Anibh M. Das, Thorsten Marquardt, Aneal Khan, Sukru Emre, Barbara K. Burton, Bruce A. Barshop, Thea Böhm, Jochen Meyburg, Kathrin Zange...> ;Molecular Genetics and Metabolism. 2016 Jan 1
7 citations
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Peter J. Shepard, Bruce A. Barshop, Matthias R. Baumgartner, John-Bjarne Hansen, Kristen Jepsen, Erin N. Smith, Kelly A. Frazer> ;Genetics in Medicine. 2015 Aug 1
21 citations
Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia.
Ajai Khanna, Robert G. Gish, Susan Winter, William L. Nyhan, Bruce A. Barshop> ;JIMD Reports. 2015 Jul 29
32 citations
Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.
Ilya Gertsman, Jon A. Gangoiti, William L. Nyhan, Bruce A. Barshop> ;Molecular Genetics and Metabolism. 2015 Mar 1
14 citations
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.
Ilya Gertsman, Bruce A. Barshop, Jan Panyard-Davis, Jon A. Gangoiti, William L. Nyhan> ;JIMD Reports. 2015 Jan 1
46 citations
Validation of a dual LC–HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics
Ilya Gertsman, Jon A. Gangoiti, Bruce A. Barshop> ;Metabolomics. 2014 Apr 4
11 citations
Pharmacokinetics of cysteamine bitartrate following intraduodenal delivery.
Ranjan Dohil, Betty L. Cabrera, Jon A. Gangoiti, Bruce A. Barshop, Patrice Rioux> ;Fundamental & Clinical Pharmacology. 2014 Apr 1
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Journal Articles

Biallelic Loss of Human CTNNA2, Encoding αN-Catenin, Leads to ARP2/3 Complex Overactivity and Disordered Cortical Neuronal Migration
Joseph G Gleeson, Ian Miller, Bruce A Barshop, William B Dobyns, Murat Gunel, Nature

Press Mentions

Cystinosis Research Foundation Grants Support Scientific Studies on Cell Function, New Treatments and the Quest for a CureFebruary 7th, 2017
The Gift of a LifetimeSeptember 23rd, 2017
$5.9 Million Grant to UC San Diego for Paradigm-Shifting Diabetes ResearchFebruary 12th, 2016

Grant Support

Cysteamine Bitartrate Delayed-Relesease Capsules (RP103) Compared To CysteamineNational Center For Research Resources2010
Clinical Trial: Alglucosidase Alfa Temporary Access Program (ATAP) Protocol AgluNational Center For Research Resources2010
Clinical Trial: A Phase II Study Of PN401 Pyrimidine Responsive Syndrome Of NeurNational Center For Research Resources2008–2010
Clinical Trial: Myozyme? Temporary Access Program (MTAP)National Center For Research Resources2009
Clinical Trial: Extension Study - LATE Onset Pompe DiseaseNational Center For Research Resources2008–2009
Clinical Trial: Myozyme Treatment In Patients With LATE Onset Pompe DiseaseNational Center For Research Resources2008
Myozyme Treatment In Patients With LATE Onset Pompe DiseaseNational Center For Research Resources2007
A Phase II Study Of PN401 Pyrimidine Responsive Syndrome Of Neurological DysfNational Center For Research Resources2006–2007
Phase II OPEN Trial Of Dichloroacetate In Congenital Lactic AcidemiaNational Center For Research Resources2005–2006
Leucine Metabolism And Liver TransplantationNational Center For Research Resources2005–2006
Dichloroacetate In The Treatment Of Congenital Lactic AcidemiaNational Center For Research Resources2005
PN401 In Patients With Pyrimidine Responsive SyndromeNational Center For Research Resources2004–2005
Dichloroacetate In Congenital Lacic AcidemiaNational Center For Research Resources2004
Tolerance Evaluation Of Fructo-Oligosaccharides In Fructose IntoleranceNational Center For Research Resources2000–2002
Isotope Study Of Pyruvate Metabolism In Lactic AcidemiaNational Center For Research Resources2000–2002
Blood Sampling From Control SubjectsNational Center For Research Resources2000–2002
Homocysteine Metabolism In Vascular DiseaseNational Center For Research Resources1996–1997

Hospital Affiliations

Rady Children's Hospital - San DiegoSan Diego, California
UC San Diego Medical Center - HillcrestSan Diego, California