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Richard Spritz, MD, Medical Genetics, Aurora, CO

RichardAndrewSpritzMD

Medical Genetics • Aurora, CO

Clinical Genetics

Professor Emeritus, Pediatrics and Human Medical Genetics and Genomics, University of Colorado School of Medicine

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Summary

  • Richard Spritz is Emeritus Professor of Pediatrics at the University of Colorado School of Medicine; previously, he was Director of the Human Medical Genetics and Genomics Program. In the 1970s he was part of the team that characterized the first human genes and discovered the first human gene mutation, in beta-thalassemia. For over four decades his lab studied the molecular basis of human genetic diseases, including mapping, discovery, and mutational and functional analysis of many different human disease genes. He has received numerous awards for his research and has over 300 publications, on many different topics relating to genetic disorders and birth defects. Dr. Spritz received a B.S. in Zoology from the University of Wisconsin-Madison, and an M.D. from Pennsylvania State University. He was Intern and Resident in Pediatrics at the Children’s Hospital of Philadelphia and Fellow in Human Genetics at the Yale University School of Medicine.

Education & Training

  • Children's Hospital of Philadelphia
    Children's Hospital of PhiladelphiaResidency, Pediatrics, 1976 - 1978
  • Pennsylvania State University College of Medicine
    Pennsylvania State University College of MedicineClass of 1976

Certifications & Licensure

  • American Board of Medical Genetics and Genomics Clinical Genetics

Clinical Trials

Publications & Presentations

PubMed

Press Mentions

  • GWAS for Autoimmune Addison’s Disease Identifies Multiple Risk Loci and Highlights AIRE in Disease Susceptibility
    GWAS for Autoimmune Addison’s Disease Identifies Multiple Risk Loci and Highlights AIRE in Disease SusceptibilityFebruary 11th, 2021
  • 3D Facial Scans Have Potential to Speed Diagnoses for Children with Genetic Diseases
    3D Facial Scans Have Potential to Speed Diagnoses for Children with Genetic DiseasesJune 9th, 2020
  • UCSF, U of Colorado Develop 3D Imaging Tool That Uses Facial Scans to Diagnose Genetic Diseases
    UCSF, U of Colorado Develop 3D Imaging Tool That Uses Facial Scans to Diagnose Genetic DiseasesJune 8th, 2020
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Grant Support

  • Genetic Determinants Of Orofacial Shape And Relationship To Cleft Lip/PalateNational Institute Of Dental &Craniofacial Research2009–2012
  • Mapping And Functional Analysis Of Vitiligo Susceptibility GenesNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2009–2011
  • Vitgene International Consortium To Identify Susceptibility Genes For GeneralizedNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2008–2011
  • Mapping Of Vitiligo Susceptibility GenesNational Institute Of Arthritis And Musculoskeletal And Skin Diseases1999–2008
  • Gene Discovery For Craniofacial DisordersNational Institute Of Dental &Craniofacial Research2003–2007
  • Missing Mutations In Oculocutaneous And Ocular AlbinismNational Eye Institute2004–2006
  • Studies Of Human Pigmentation DisordersNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2001–2005
  • Genetic Studies Of Margarita Island Ectodermal DysplasiaNational Institute Of Dental &Craniofacial Research2000–2002
  • Genetics Of Autoimmune Polyendocrine Syndrome IINational Institute Of Allergy And Infectious Diseases1999–2002
  • A Genechip Instrument System: Gene Mapping Core FacilityNational Center For Research Resources2000
  • Genetic Studies Of Human Pigmentation DisordersNational Institute Of Arthritis And Musculoskeletal And Skin Diseases1998–2000
  • Chediak Higashi Syndrome &Hermansky Pudlak Syndrome Intracellular ProteinsNational Center For Research Resources1998
  • Genetic Studies Of Human Pigmentation DisordersNational Institute Of Arthritis And Musculoskeletal And Skin Diseases1992–1998
  • Localization Of Chediak Higashi Syndrome &Hermansky Pudlak Syndrome ProteinNational Center For Research Resources1997
  • Genetic Studies Of Oculocutaneous AlbinismNational Institute Of Arthritis And Musculoskeletal And Skin Diseases1989–1991

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