Faculty
Joseph G Hacia
Contact
University of Southern California: Kaiser-Permanente Excellence in Teaching Award for the Basic Science Years of Medical School, 2024
American Society of Human Genetics: Chaired Session at ASHG meeting on Finding NEMO: Novel Enhanced Model Organism/Organs-on-Chips, 2023
University of Southern California: Dean’s Award for Excellence in Teaching, 2023
University of Southern California: Kaiser-Permanente Excellence in Teaching Award for the Basic Science Years of Medical School, 2023
University of Southern California: Kaiser-Permanente Excellence in Teaching Award for the Basic Science Years of Medical School, 2022
Global DARE Foundation: Chair Scientific Advisory Board, Global DARE Foundation, 2022
University of Southern California: Alpha Omega Alpha (AOA) Medical Honor Society by vote of the Class of 2022, Keck School of Medicine, 2022
University of Southern California: Kaiser-Permanente Excellence in Teaching Award for the Basic Science Years of Medical School, 2021
The Jackson Laboratory: Adjunct Faculty Member, The Jackson Laboratory, Bar Harbor, Maine, 2020
Global DARE Foundation: co-Chair Scientific Advisory Board, Global DARE Foundation, 2019-2022
United Leukodystrophy Foundation: Member, Board of Directors, United Leukodystrophy Foundation, 2019
University of Southern California: Year 1 USC Medical Teaching Award, 2018
Global Foundation for Peroxisomal Disorders: Co-organized Global Foundation for Peroxisomal Disorders Scientific Conferences, 2017-2022
Global Foundation for Peroxisomal Disorders: Award of Recognition for Excellence in Scientific Community Building for PBD Research by the GFPD, 2017
University of Southern California: Year 1 Outstanding Course Award for USC Medical Teaching, 2016
BMC Medical Genomics: Editorial Board BMC Medical Genomics, 2016
University of Southern California: Year 1 USC Medical Teaching Award, 2016
University of Southern California: Master Teacher of the Keck School of Medicine of USC, 2016
RhizoKids International: Member, Scientific Advisory Board, RhizoKids International, 2016
Kennedy Krieger Institute: Chaired Session at ‘Leukodystrophies Conference’ in Baltimore, Maryland, 2016
American Society of Gene and Cell Therapy: Member of Chemical Gene & Cell Therapy Committee of the American Society of Gene & Cell Therapy, 2015-2018
ALD Connect: Member of X-linked Adrenoleukodystrophy (ALD) Connect Workgroup on Therapy Review, 2015
University of Southern California: Year 2 USC Medical Teaching Award, 2015
American Society of Human Genetics: Chaired Session at ASHG meeting on Targeted Drug Therapies for Progressive Genetic Disorders, 2014
University of Southern California: Year 1 USC Medical Teaching Award, 2013
California Institute for Regenerative Medicine: External Reviewer, Institute of Medicine Review of California Institute for Regenerative Medicine, 2012
BMC Genomics: Editorial Board BMC Genomics, 2010
Global Foundation for Peroxisomal Disorders: Member, Scientific Advisory Board, Global Foundation for Peroxisomal Disorders, 2010
American Society of Human Genetics: Chaired Session at ASHG meeting on Early Diagnosis and Treatment of CNS-based Metabolic Disorders, 2010
University of Southern California: Member of NIH Comparative Genomics Study Section, 2008-2013
Nucleic Acids Research: Editorial Board Nucleic Acids Research, 2008
Genome Research: Editorial Board of Genome Research, 2004-2010
The V Foundation for Cancer Research: V Foundation Scholar, 2002
American Society of Human Genetics: American Society of Human Genetics (ASHG) Postdoctoral Translational Research Award, 2000
Howard Hughes Medical Institute: Howard Hughes Medical Institute Predoctoral Fellow, 1989-1995
FaceBase: A Community-Driven Hub for Data-Intensive Research J Dent Res. 2022 10; 101(11):1289-1298. . View in PubMed
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data Sci Rep. 2022 04 21; 12(1):6556. . View in PubMed
AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder Mol Ther Methods Clin Dev. 2021 Dec 10; 23:225-240. . View in PubMed
FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research Development. 2020 09 21; 147(18). . View in PubMed
Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids J Cell Biochem. 2019 03; 120(3):3243-3258. . View in PubMed
X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans Mol Genet Metab. 2017 11; 122(3):130-133. . View in PubMed
MiR-153 Regulates Amelogenesis by Targeting Endocytotic and Endosomal/lysosomal Pathways-Novel Insight into the Origins of Enamel Pathologies Sci Rep. 2017 03 13; 7:44118. . View in PubMed
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines Mol Genet Metab. 2016 Mar; 117(3):313-21. . View in PubMed
Novel Gene Expression Signature Predictive of Clinical Recurrence After Radical Prostatectomy in Early Stage Prostate Cancer Patients Prostate. 2016 10; 76(14):1239-56. . View in PubMed
Derivation of induced pluripotent stem cells from orangutan skin fibroblasts BMC Res Notes. 2015 Oct 16; 8:577. . View in PubMed
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities Stem Cell Res Ther. 2015 Aug 29; 6:158. . View in PubMed
Genome-wide analysis of miRNA and mRNA transcriptomes during amelogenesis BMC Genomics. 2014 Nov 19; 15:998. . View in PubMed
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder Mol Genet Metab. 2014 Apr; 111(4):522-532. . View in PubMed
Identification of candidate downstream targets of TGFß signaling during palate development by genome-wide transcript profiling J Cell Biochem. 2013 Apr; 114(4):796-807. . View in PubMed
Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells Lipids Health Dis. 2013 Feb 04; 12:10. . View in PubMed
The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis Stem Cell Res Ther. 2012 Oct 04; 3(5):39. . View in PubMed
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population BMC Med Genet. 2012 Aug 15; 13:72. . View in PubMed
The circadian clock modulates enamel development J Biol Rhythms. 2012 Jun; 27(3):237-45. . View in PubMed
A TGFß-Smad4-Fgf6 signaling cascade controls myogenic differentiation and myoblast fusion during tongue development Development. 2012 May; 139(9):1640-50. . View in PubMed
Identification of novel candidate genes involved in mineralization of dental enamel by genome-wide transcript profiling J Cell Physiol. 2012 May; 227(5):2264-75. . View in PubMed
Modulation of noncanonical TGF-ß signaling prevents cleft palate in Tgfbr2 mutant mice J Clin Invest. 2012 Mar; 122(3):873-85. . View in PubMed
Fibroblast growth factor 9 (FGF9)-pituitary homeobox 2 (PITX2) pathway mediates transforming growth factor ß (TGFß) signaling to regulate cell proliferation in palatal mesenchyme during mouse palatogenesis J Biol Chem. 2012 Jan 20; 287(4):2353-63. . View in PubMed
Gene-expression analysis of early- and late-maturation-stage rat enamel organ Eur J Oral Sci. 2011 Dec; 119 Suppl 1:149-57. . View in PubMed
[A case of bullous lupus in black skin] Ann Dermatol Venereol. 2011 Nov; 138(11):792-4. . View in PubMed
Human and great ape red blood cells differ in plasmalogen levels and composition Lipids Health Dis. 2011 Jun 17; 10:101. . View in PubMed
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations J Cell Biochem. 2011 May; 112(5):1250-8. . View in PubMed
Structural analysis of a repetitive protein sequence motif in strepsirrhine primate amelogenin PLoS One. 2011 Mar 18; 6(3):e18028. . View in PubMed
Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions BMC Physiol. 2010 Oct 08; 10:19. . View in PubMed
Identification and functional relevance of de novo DNA methylation in cancerous B-cell populations J Cell Biochem. 2010 Mar 01; 109(4):818-27. . View in PubMed
Development and evaluation of new mask protocols for gene expression profiling in humans and chimpanzees BMC Bioinformatics. 2009 Mar 05; 10:77. . View in PubMed
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders Hum Mutat. 2009 Mar; 30(3):E467-80. . View in PubMed
mtDNA depletion confers specific gene expression profiles in human cells grown in culture and in xenograft BMC Genomics. 2008 Nov 03; 9:521. . View in PubMed
Synthesis and anticancer properties of water-soluble zinc ionophores Cancer Res. 2008 Jul 01; 68(13):5318-25. . View in PubMed
DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status Leukemia. 2008 May; 22(5):1035-43. . View in PubMed
Age-related gene expression profiles of rhesus monkey bone marrow-derived mesenchymal stem cells J Cell Biochem. 2008 Mar 01; 103(4):1198-210. . View in PubMed
Loss of p53 expression correlates with metastatic phenotype and transcriptional profile in a new mouse model of head and neck cancer Mol Cancer Res. 2007 Apr; 5(4):351-62. . View in PubMed
Synthesis and biologic properties of hydrophilic sapphyrins, a new class of tumor-selective inhibitors of gene expression Mol Cancer. 2007 Jan 19; 6:9. . View in PubMed
Comparisons of PCR-based genome amplification systems using CpG island microarrays Hum Mutat. 2006 Jun; 27(6):589-96. . View in PubMed
Mutation and genomic deletion status of ataxia telangiectasia mutated (ATM) and p53 confer specific gene expression profiles in mantle cell lymphoma Proc Natl Acad Sci U S A. 2006 Feb 14; 103(7):2352-7. . View in PubMed
Motexafin gadolinium and zinc induce oxidative stress responses and apoptosis in B-cell lymphoma lines Cancer Res. 2005 Dec 15; 65(24):11676-88. . View in PubMed
Motexafin gadolinium disrupts zinc metabolism in human cancer cell lines Cancer Res. 2005 May 01; 65(9):3837-45. . View in PubMed
Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays Nucleic Acids Res. 2005 Feb 18; 33(3):e33. . View in PubMed
Leaky ribosomal scanning in mammalian genomes: significance of histone H4 alternative translation in vivo Nucleic Acids Res. 2005; 33(4):1298-308. . View in PubMed
Gene expression profiling of glucocorticoid-inhibited osteoblasts J Mol Endocrinol. 2004 Aug; 33(1):175-93. . View in PubMed
The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer Nat Genet. 2004 Jul; 36(7):694-9. . View in PubMed
Improving the sensitivity and specificity of gene expression analysis in highly related organisms through the use of electronic masks Nucleic Acids Res. 2004 Mar 18; 32(5):e51. . View in PubMed
Comparative analysis of gene-expression patterns in human and African great ape cultured fibroblasts Genome Res. 2003 Jul; 13(7):1619-30. . View in PubMed
Select your words carefully Heredity (Edinb). 2003 May; 90(5):343-4. . View in PubMed
Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma Proc Natl Acad Sci U S A. 2003 Apr 29; 100(9):5372-7. . View in PubMed
Molecular pathology of head and neck cancer Histol Histopathol. 2002; 17(3):909-14. . View in PubMed
Genome of the apes Trends Genet. 2001 Nov; 17(11):637-45. . View in PubMed
Oligonucleotide microarray based detection of repetitive sequence changes Hum Mutat. 2000 Oct; 16(4):354-63. . View in PubMed
Design of modified oligodeoxyribonucleotide probes to detect telomere repeat sequences in FISH assays Nucleic Acids Res. 1999 Oct 15; 27(20):4034-9. . View in PubMed
Mutational analysis using oligonucleotide microarrays J Med Genet. 1999 Oct; 36(10):730-6. . View in PubMed
Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays Nat Genet. 1999 Jun; 22(2):164-7. . View in PubMed
Resequencing and mutational analysis using oligonucleotide microarrays Nat Genet. 1999 Jan; 21(1 Suppl):42-7. . View in PubMed
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays Genome Res. 1998 Dec; 8(12):1245-58. . View in PubMed
Enhanced high density oligonucleotide array-based sequence analysis using modified nucleoside triphosphates Nucleic Acids Res. 1998 Nov 01; 26(21):4975-82. . View in PubMed
Applications of DNA chips for genomic analysis Mol Psychiatry. 1998 Nov; 3(6):483-92. . View in PubMed
Two color hybridization analysis using high density oligonucleotide arrays and energy transfer dyes Nucleic Acids Res. 1998 Aug 15; 26(16):3865-6. . View in PubMed
New approaches to BRCA1 mutation detection Breast Dis. 1998 Apr; 10(1-2):45-59. . View in PubMed
Structure of a stereoregular phosphorothioate DNA/RNA duplex Nat Struct Biol. 1998 Apr; 5(4):271-6. . View in PubMed
Evolutionary sequence comparisons using high-density oligonucleotide arrays Nat Genet. 1998 Feb; 18(2):155-8. . View in PubMed
Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis Nat Genet. 1996 Dec; 14(4):441-7. . View in PubMed
Inhibition of Klenow fragment DNA polymerase on double-helical templates by oligonucleotide-directed triple-helix formation Biochemistry. 1994 May 24; 33(20):6192-200. . View in PubMed
Phosphorothioate oligonucleotide-directed triple helix formation Biochemistry. 1994 May 10; 33(18):5367-9. . View in PubMed
Overproduction of a selenocysteine-containing polypeptide in Escherichia coli: the fdhF gene product Mol Microbiol. 1992 Mar; 6(6):781-5. . View in PubMed
The Hacia laboratory is involved in screening small molecule libraries for candidate therapies for peroxisomal disorders as well as gene augmentation and gene editing projects in mouse models of disease. By working closely with physician-scientists and patient advocacy groups including the Global Foundation for Peroxisomal Disorders (GFPD) (https://www.thegfpd.org/), RhizoKids International (https://www.rhizokids.com/), United Leukodystrophy Foundation (https:/ulf.org), and Global DARE Foundation (https://www.defeatadultrefsumeverywhere.org/) they seek to translate their research into improved treatments in the near future.
The Hacia laboratory has also used comparative genomic and lipidomic approaches to uncover evidence that peroxisomal metabolic activities has been strongly influenced by diet in primate lineages. They wish to use the knowledge gained from these projects to benefit the health of captive non-human primates and people affected by peroxisomal disorders.
Research Interests: medical genetics, molecular therapies, gene therapies
Diseases Models: cultured fibroblasts, induced pluripotent stem cells, genome-edited cell lines, genetically engineered rodents
Consortia: Global Foundation for Peroxisomal Disorders, RhizoKids International, United Leukodystrophy Foundation, Global DARE Foundation, Hannah's Hope Fund
