BruceAllenBarshopMD

Medical Genetics • San Diego, CA

Clinical Biochemical Genetics, Clinical Biochemical/Molecular Genetics

Professor, Pediatrics, UCSD School of Medicine

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Office
7920 Frost St
Ste 200
San Diego, CA 92123
Phone+1 858-576-1700

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 - 2026
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

88 citations
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Sylvia Stockler-Ipsiroglu, Clara D.M. van Karnebeek, Nicola Longo, G. Christoph Korenke, Saadet Mercimek-Mahmutoglu
Molecular Genetics and Metabolism. 2014-01-01
45 citations
Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate.
Liesbeth Spruijt, Robert K. Naviaux, Karen A. McGowan, William L. Nyhan, Geoffrey Sheean
Muscle & Nerve. 2001-07-01
51 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
Nature Genetics. 2018-07-16

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
$5.9 Million Grant to UC San Diego for Paradigm-Shifting Diabetes ResearchFebruary 12th, 2016
The Gift of a LifetimeSeptember 23rd, 2017

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