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Joseph G Hacia, PhD
Associate Professor of Biochemistry & Molecular Medicine
Vice Chair For Medical Education
Biochemistry and Molecular Biology
CSC 261 2250 Alcazar Street Health Sciences Campus Los Angeles
+1 323 442 3030


Joe Hacia, an Associate Professor of Biochemistry and Molecular Biology, is a medical geneticist who obtained his undergraduate training at Rutgers University and graduate training at the California Institute of Technology. Prior to joining the USC faculty, he obtained his post-doctoral training at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH).

The Hacia laboratory focuses on developing therapies for genetic disorders caused by impaired peroxisome assembly, structure, and function. His group focuses on peroxisome biogenesis disorders (PBDs), which include Zellweger spectrum disorder (PBD-ZSD) and rhizomelic chondrodysplasia punctata (RCDP). Affected children frequently show progressive loss of vision and hearing, brain and liver dysfunction, craniofacial dysmorphism, and enamel defects. They also have interest in therapeutic development for the related peroxisomal disorder X-linked adrenoleukodystrophy (X-ALD), including the childhood cerebral ALD (CCALD) form of disease that results in inflammatory demyelination and adult onset adrenomyeloneuropathy (AMN) that affects spinal cord function and leads to loss of lower limb functions.

The Hacia laboratory is involved in high-content screening of large chemical libraries as well as retinal gene therapy and cell transplantation therapy projects. As part of these efforts, they developed patient-specific induced pluripotent stem cells (iPSCs) as cell culture models of peroxisomal disorders. By working closely with the physician-scientists and patient advocacy groups, the Global Foundation for Peroxisomal Disorders (GFPD) (http://www.thegfpd.org/) and RhizoKids International (http://www.rhizokids.com/), they seek to translate their research into improved treatments in the near future.

The Hacia laboratory has also used comparative genomics and lipidomics approaches to uncover evidence that peroxisomal metabolism has been strongly influenced by primate diets. They wish to use the knowledge gained from these projects to benefit the health of captive non-human primates and people with peroxisomal disorders.

Research Interests: medical genetics, molecular therapeutics
Diseases Models: cultured fibroblasts, induced pluripotent stem cells, genetically engineered mice
Consortia: Global Foundation for Peroxisomal Disorders and RhizoKids International


Year 1 USC Medical Teaching Award

Editorial Board BMC Medical Genomics

Member, Scientific Advisory Board of RhizoKids International

Year 1 Outstanding Course Award for USC Medical Teaching

Master Teacher of the Keck School of Medicine of USC

Chaired Session at ‘Leukodystrophies Conference’ in Baltimore, Maryland

Member of Chemical Gene & Cell Therapy Committee of the American Society of Gene & Cell Therapy

Member of X-linked Adrenoleukodystrophy (ALD) Connect Workgroup on Therapy Review

Year 2 USC Medical Teaching Award

Chaired Session at ASHG meeting on Targeted Drug Therapies for Progressive Genetic Disorders

Year 1 USC Medical Teaching Award

External Reviewer, Institute of Medicine Review of California Institute for Regenerative Medicine

Editorial Board BMC Genomics

Chaired Session at ASHG meeting on Early Diagnosis and Treatment of CNS-based Metabolic Disorders

Member, Scientific Advisory Board of the Global Foundation for Peroxisomal Disorders

Member of NIH Comparative Genomics Study Section

Editorial Board Nucleic Acids Research

Editorial Board of Genome Research

V Foundation Scholar

American Society of Human Genetics (ASHG) Postdoctoral Translational Research Award

Howard Hughes Medical Institute Predoctoral Fellow


MiR-153 Regulates Amelogenesis by Targeting Endocytotic and Endosomal/lysosomal Pathways-Novel Insight into the Origins of Enamel Pathologies. Sci Rep. 2017 Mar 13; 7:44118. View in: PubMed

Novel Gene Expression Signature Predictive of Clinical Recurrence After Radical Prostatectomy in Early Stage Prostate Cancer Patients. Prostate. 2016 Oct; 76(14):1239-56. 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

Derivation of induced pluripotent stem cells from orangutan skin fibroblasts. BMC Res Notes. 2015; 8(1):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; 6(1):158. View in: PubMed

The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder. Mol Genet Metab. 2014 Apr; 111(4):522-32. View in: PubMed

Genome-wide analysis of miRNA and mRNA transcriptomes during amelogenesis. BMC Genomics. 2014; 15(1):998. 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; 12:10. View in: PubMed

The circadian clock modulates enamel development. J Biol Rhythms. 2012 Jun; 27(3):237-45. 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

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

Modulation of noncanonical TGF-ß signaling prevents cleft palate in Tgfbr2 mutant mice. J Clin Invest. 2012 Mar 1; 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

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. BMC Med Genet. 2012; 13:72. 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; 3(5):39. 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

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

Human and great ape red blood cells differ in plasmalogen levels and composition. Lipids Health Dis. 2011; 10:101. View in: PubMed

Structural analysis of a repetitive protein sequence motif in strepsirrhine primate amelogenin. PLoS One. 2011; 6(3):e18028. View in: PubMed

Identification and functional relevance of de novo DNA methylation in cancerous B-cell populations. J Cell Biochem. 2010 Mar 1; 109(4):818-27. 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; 10:19. 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

Development and evaluation of new mask protocols for gene expression profiling in humans and chimpanzees. BMC Bioinformatics. 2009; 10:77. View in: PubMed

Synthesis and anticancer properties of water-soluble zinc ionophores. Cancer Res. 2008 Jul 1; 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 1; 103(4):1198-210. View in: PubMed

mtDNA depletion confers specific gene expression profiles in human cells grown in culture and in xenograft. BMC Genomics. 2008; 9:521. 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; 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

Gene expression profiling associated with risk of recurrence in patients with colorectal cancer. J Clin Oncol. 2005 Jun; 23(16_suppl):3602. View in: PubMed

Motexafin gadolinium disrupts zinc metabolism in human cancer cell lines. Cancer Res. 2005 May 1; 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; 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; 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. 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

Applications of DNA chips for genomic analysis. Mol Psychiatry. 1998 Nov; 3(6):483-92. View in: PubMed

Enhanced high density oligonucleotide array-based sequence analysis using modified nucleoside triphosphates. Nucleic Acids Res. 1998 Nov 1; 26(21):4975-82. 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

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