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Awards, Honors, and Major Presentations

Bruce A. Barshop, MD, PhD
  • Communicating Editor, Journal of Inherited Metabolic Disease
  • Informatics Chair, Secretary, Society for Inherited Metabolic Disorders
  • Biochemical and Molecular Genetics Resource Cmte, College of American Pathologists
  • Guidelines Committee, California Newborn Screening Program
  • Web Site Oversight Committee, American College of Medical Genetics   
  • Best Doctors in America, 2003-2011
  • Benard L. Maas Chair in Inherited Metabolic Disease, UCSD, 2007-present
Lynne M. Bird, MD
  • R.R. Skoglund Physician Recognition Award for Excellence in Teaching, 2008
  • San Diego Magazine Top Doctors List, 2006-2012
  • Election to UCSD Academy of Clinician Scholars, 2011
  • Secretary-Treasurer of the Academy of Clinician Scholars, 2013
Stephanie Cherqui, PhD
  • Member, Scientific Review Board of the Cystinosis Research Foundation, 2010-present
  • Member, Cure Cystinosis International Registry (CCIR) Scientific Council, 2010-present
  • Chair, CRF Cystinosis Gene Therapy Consortium, 2010-present
  • Member, American Society of Gene and Cell Therapy (ASGCT)
  • Gene & Cell Therapy of Genetic and Metabolic Diseases Committee, 2011-present
  • Assembly Resolution from the California Legislature Assembly for Dr. Cherqui’s Research on Cystinosis Awarded October 5, 2012, Sacramento, CA    
  • Invited Speaker, 6th Congress of the International Pediatric Nephrology Association. Cell replacement strategies in nephropathic cystinosis. Shangai, China. Symposium, September 1, 2013.
  • Invited speaker, ACGM Annual Clinical Genetics Meeting. Stem cell transfer of cystinosin. March 20, 2013. Phoenix, AZ. Symposium. 
  • Invited Speaker, Annual Meeting of the American Society of Nephrology. Approaches to the genetic rescue of cystinosis. November 4, 2012. San Diego, CA. Symposium.
  • Invited Speaker, The Center for Cellular and Molecular Therapeutics (CCMT) at the Children’s Hospital of Philadelphia and University of Pennsylvania. Stem cell and gene therapy-based strategies for the lysosomal storage disorder cystinosis. May 2012, Philadelphia. Seminar.
  • Invited Speaker, 15th Annual Meeting of the American Society of Gene and Cell Therapy. HSC Gene therapy for cystinosis: New hope for a multi-compartment lysosomal storage disorder. May 2012. Philadelphia, PA. Scientific Symposium: Towards clinical trials for genetic and metabolic diseases.
  • Co-chair and Organizer of the Third International Cystinosis Research Foundation Symposium. Stem cell and gene therapy for cystinosis: Update and mechanism studies. March 2012, Newport Beach, CA
Annette Feigenbaum, MD
  • Project investigator Research Institute The Hospital for Sick Children Toronto, Canada
  • Rady Childrens Hospital Committee membership: Genetic testing panel (Medical justification/approval) active member 2012-
  • Ad Hoc Journal Reviewer: Disease Models and Mechanisms 2013; Epilepsy Research 2012; European Journal of Paediatrics 2011; Molecular Genetics and Metabolism 2013
  • National Urea Cycle Foundation 2007 – present Scientific and Medical Advisory Board member
  • Urea Cycle Diseases Consortium: Member at large 2008-date
  • United Mitochondrial Diseases Foundation Annual Symposium: Panel speaker 2013; ‘Ask the Mitodoc’

Invited Presentations:

  • Invited speaker, ACMG 2012 Annual meeting North Carolina March 31 2012: Prenatal and maternal issues in mitochondrial disease
  • Safety and efficacy of sapropterin in children aged 0 to 6 years with phenylketonuria: study design and preliminary findings from a long term open label study PKU 015, to Biomarin and Investigators Charlotte, NC, March 31, 2012
  • Maternal, fetal and neonatal presentations of mitochondrial disease. Childrens Hospital of Orange County. Pediatrics Grand Rounds. September 12, 2012
  • Speaker, A pot pourri of metabolic and mitochondrial diseases: Lessons learned from real cases. Neurology, Genetics, Neuroradiology Rounds Invited Johannesburg General Hospital Gauteng, South Africa October 16, 2012
  • Safety and efficacy of sapropterin in children aged 0 to 6 years with phenylketonuria: Study design and preliminary findings from a long term open label study PKU 015. 2013 North America Commercial Team Meeting, Biomarin Pharmaceuticals Inc., Marina del Rey, CA, January 2013
  • Nutritional management of mitochondrial diseases. Abbott Nutrition RD Training, June 2013, Nashville, TN
Theodore Friedmann, MD, PhD
  • Member, Burnham Institute (La Jolla) Scientific Advisory Board
  • Chair, Lesch Nyhan Research Foundation Scientific Advisory Board
  • Member, World Anti-Doping Agency Health, Medicine and Research Committee
  • Chair, World Anti-Doping Agency Genetics Committee
  • Member, Clinigene Intl Board; Member, Hastings Center (N.Y.) Gene Therapy Project
  • Associate Editor, Molecular Therapy
  • Editorial Board, Human Gene Therapy
  • Editor, Advances in Genetics, Elsevier Publishing Company
  • Editor, DNA Transfer, Cold Spring Harbor Press
  • Elected Fellow, The Hastings Center 2005-present
  • Advisory Council, American Society of Gene and Cell Therapy 2007-2013
  • Chairman, Ethics Committee, American Society of Gene and Cell Therapy 2013-2015
  • Board of Directors, Agouron Institute, Pasadena, CA, 2013-2016
  • Chairman, Gene Doping Expert Committee,World Anti-Doping Agency, Montreal, Canada, 2013-2015
Pamela Itkin-Ansari, PhD
  • Invited Speaker, Mechanisms and models of cancer, 2013
  • Invited Speaker, Islet Society (International), Stockholm, Sweden, 2012
  • Invited Speaker, Pancreatic cancer. Hirshberg Symposium, 2012
  • Invited Speaker, UCLA, 2011
  • Invited Speaker, American Society of Gene and Cell Therapy, Seattle, WA, 2011
Marilyn C. Jones, MD
  • Member, Committee on Data Standards, American Cleft Palate-Craniofacial Assn, 2000-present
  • Co-chair, Preconference Symposium, American Cleft Palate-Craniofacial Association, 2014
  • Of Council, Western Society for Pediatric Research, 2006-present
  • Chair, Commission on Approval of Teams, 2007–present
  • Member, Committee on Genetics, American Academy of Pediatrics, 2009-present
  • Member, Basil O’Connor Review Committee, March of Dimes, 2012-present
    Fred Levine, MD, PhD
    • Director, Sanford Children’s Health Research Center, Burnham Institute
    • Editorial board, American Journal of Physiology: Endocrinology and Metabolism
    • Research council, UC Industry-University Cooperative Research Program
    • Chair, Institutional Submission Selection Committee, UCSD School of Medicine
    Alysson Muotri, PhD
    • NIH Director’s New Innovator Award 2009
    • Emerald Foundation Young Investigator Award 2009
    • The 100 most influential people in Brazil, Época, SP, Brazil, 2010
    • PopTech Science and Public Leadership Fellow, 2011
    • "Stigma Buster" from the National Alliance on Mental Illness (NAMI), 2011
    • Kavli Frontiers of Science Fellow, 2012
    • Winner of Pride Autism Brazil, 2013 Robert K. Naviaux, MD, PhD
    • Associate Editor, Mitochondrion
    • Autism Speaks Trailblazer Award, 2011
    • Appointed to the Scientific Advisory Council; The US National Autism Speaks Autism Treatment Network (ATN), 2012-Present
    • Invited Speaker on Autism, Mitochondria, and Environmental Health, Autism Research Institute annual meeting, Anaheim, CA, 2012
    • Appointed as international advisor to the Association Française contre les Myopathies, Plateforme Maladies Rares (AFM—The French Muscular Dystrophy and Rare Disease Council), Paris, France, 2013
    • Invited Speaker for the NIH-sponsored Child Neurology Society Meeting on Mitochondrial Disease, Austin, TX, 2013
    William L. Nyhan, MD, PhD
    • Member Scientific Advisory Board, United Mitochondrial Disease Foundation
    • Presenter, Lesch-Nyhan Disease, Menarini Ricerche, Florence, Italy, September 2013