
Richard Andrew Spritz MD
Clinical Genetics
Professor Emeritus, Pediatrics and Human Medical Genetics and Genomics, University of Colorado School of Medicine
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E. 19th Ave.University of Colorado School of MedicineAurora, CO 80045
Phone+1 303-564-7054
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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 PhiladelphiaResidency, Pediatrics, 1976 - 1978
Pennsylvania State University College of MedicineClass of 1976
Certifications & Licensure
American Board of Medical Genetics and Genomics Clinical Genetics
Clinical Trials
Publications & Presentations
PubMed
- 20 citationsGenome scans of facial features in East Africans and cross-population comparisons reveal novel associations.Chenxing Liu, Myoung Keun Lee, Sahin Naqvi, Hanne Hoskens, Dongjing Liu
Plos Genetics. 2021-08-19 - 31 citationsLarge-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.Harold Matthews, Richard Palmer, Gareth Baynam, Oliver W. Quarrell, Ophir D. Klein
Scientific Reports. 2021-06-09 - 9 citationsGenome-wide copy number variations in a large cohort of bantu African childrenFeyza Yilmaz, Megan Null, David P. Astling, Hung-Chun Yu, Joanne B. Cole
BMC Medical Genomics. 2021-05-17
Press Mentions
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 DiseasesJune 9th, 2020
UCSF, U of Colorado Develop 3D Imaging Tool That Uses Facial Scans to Diagnose Genetic DiseasesJune 8th, 2020
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
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