Pragna I. Patel

Professor of Biochemistry & Molecular Medicine

Director of Instructional Practices and Curriculum

DEI Champion for Health and Biomedical Science Education

Image of Pragna I. Patel
Is this your profile? Click to edit


Dr. Pragna Patel is Professor in the Department of Biochemistry and Molecular Medicine at the Keck School of Medicine of USC. Before joining USC, Dr. Patel was a member of the faculty at Baylor College of Medicine in Houston from 1987 through 2003. Her laboratory played a major role in the discovery of novel mechanisms underlying several inherited diseases including Charcot-Marie-Tooth disease type 1A, Friedreich ataxia and congenital generalized hypertrichosis. DNA-based tests for some of these diseases have enabled easier diagnosis. Her laboratory has also contributed to an understanding of how the genes are normally regulated using cell culture and animal models, and worked on developing therapies for these diseases. Her lab has also been interested in the genetics of common diseases in Asian Indians and examined the genetic structure of Asian Indian populations speaking 15 different languages as well as studies on the impact of restricted marital practices within an endogamic Indian population.


  • Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice Hum Mol Genet. 2020 04 15; 29(6):1054. . View in PubMed
  • Immunologic predictors of coronary artery calcium progression in a contemporary HIV cohort AIDS. 2014 Mar 27; 28(6):831-40. . View in PubMed
  • A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination Glia. 2014 Jan; 62(1):39-51. . View in PubMed
  • Whither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A? JAMA Neurol. 2013 Aug; 70(8):969-71.. View in PubMed
  • Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice Hum Mol Genet. 2013 Mar 01; 22(5):1026-38. . View in PubMed
  • Impact of restricted marital practices on genetic variation in an endogamous Gujarati group Am J Phys Anthropol. 2012 Sep; 149(1):92-103. . View in PubMed
  • The chicken frizzle feather is due to an a-keratin (KRT75) mutation that causes a defective rachis PLoS Genet. 2012; 8(7):e1002748. . View in PubMed
  • X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3 Am J Hum Genet. 2011 Jun 10; 88(6):819-826. . View in PubMed
  • Prevalence of common disease-associated variants in Asian Indians BMC Genet. 2008 Feb 04; 9:13. . View in PubMed
  • Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis Dev Dyn. 2007 Aug; 236(8):2245-57. . View in PubMed
  • Inherited dental anomalies: a review and prospects for the future role of clinicians J Calif Dent Assoc. 2007 May; 35(5):324-6328-33. . View in PubMed
  • A simple method for DNA isolation from clotted blood extricated rapidly from serum separator tubes Clin Chem. 2007 Mar; 53(3):522-4. . View in PubMed
  • A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia Am J Med Genet A. 2007 Feb 15; 143(4):390-4. . View in PubMed
  • A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q243. Hum Genet. 2007 Jan; 120(5):653-62. . View in PubMed
  • Low levels of genetic divergence across geographically and linguistically diverse populations from India PLoS Genet. 2006 Dec; 2(12):e215. . View in PubMed
  • Gene discovery for dental anomalies: a primer for the dental professional J Am Dent Assoc. 2006 Jun; 137(6):743-52. . View in PubMed
  • Nonconventional genetic risk factors for cardiovascular disease Curr Atheroscler Rep. 2006 May; 8(3):184-92. . View in PubMed
  • Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine Hum Genet. 2005 Dec; 118(3-4):382-92. . View in PubMed
  • Genes underlying familial hypodontia: a review and discussion of the role of dental hygienists in future research J Dent Hyg. 2005; 79(3):10. . View in PubMed
  • Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p112. Am J Hum Genet. 2003 Dec; 73(6):1302-15. . View in PubMed
  • Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia Am J Med Genet A. 2003 Apr 01; 118A(1):35-42. . View in PubMed
  • Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies J Neurosci Res. 2002 Aug 15; 69(4):497-508. . View in PubMed
  • Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia Hum Genet. 2002 Apr; 110(4):371-6. . View in PubMed