Carrie Louie 300x300

Carrie Louie, Ph.D.

  • Associate Director, Clinical Molecular Diagnostic Laboratory

Carrie Louie, Ph.D.

Clinical Specialties
  • Molecular Genetics
  • Molecular Pathology
Carrie Louie, Ph.D., is a board-certified clinical molecular geneticist with over 15 years of experience in research and clinical genetics. She authored multiple publications on the discovery and characterization of human disease genes during her doctoral studies at UCSD and contributed to publications on mechanisms of retinal ciliopathy during her postdoctoral studies at UCLA. She completed her fellowship training at the UCLA Intercampus Medical Genetics Training Program.
Dr. Louie is a fellow of the American College of Medical Genetics and Genomics and a member of the Association for Molecular Pathology.


  • 2010, Ph.D., University of California San Diego, San Diego, CA
  • 2003, B.S., University of California Davis, Davis, CA


  • 2010-2012, DABMG, UCLA Intercampus Medical Genetics Training Program
  • 2007-2010, Ruth L. Kirschstein NRSA fellowship, University of California San Diego
  • Louie CM, Caridi GL, Lopes VS, Brancati F, Kispert A, Lancaster M, Schlossman AM, Otto EA, Leitges M, Groene HJ, et al. AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis. (2010) Nature Genetics, 42, p175-180
  • Louie CM, Gleeson JG. (2005). Genetic Basis of Joubert Syndrome and Related Disorders of Cerebellar Development. Human Molecular Genetics, 14, Spec No. 2, R235-42 (Review)
  • Lancaster MA, Louie CM, Silhavy JL, Sintasath L, Decambre M, Nigam SK, Willert K, Gleeson JG. (2009) Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nature Medicine, 15, 1046-54
  • Lopes VS, Boye SE, Louie CM, Boye S, Dyka F,  Chiodo V, Fofo F, Hauswirth WW, Williams DS. (2013) Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus. Gene Therapy, 20(8), 824-33
  • Trivedi D, Colin E, Louie CM, Williams DS. (2012) Live-cell imaging evidence for the ciliary transport of rod photoreceptor opsin by heterotrimeric kinesin-2. Journal of Neuroscience, 32(31), p10587-10593
  • Dixon-Salazar TJ, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG. (2004). Mutations in the AHI1 Gene Encoding Jouberin, cause Joubert Syndrome with Cortical Polymicrogyria. American Journal of Human Genetics. 75, 979-87.
  • Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. (2013) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics, 44(2):193-9
  • Lancaster MA, Gopal DJ, Kim J, Saleem SN, Silhavy JL, Louie CM, Thacker BE, Williams Y, Zaki MS, Gleeson JG. (2011) Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nature Medicine.,17, 726-731
  • Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E. International Joubert Syndrome Related Disorders Study Group, Bertini E, Dallapiccola B, Gleeson JG. (2006) Mutations in Cep290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nature Genetics, 36, 623-625
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