Joseph G. Hacia, PhD

Joe Hacia, PhD, is a Human Geneticist and Precision Genetic Medicine Researcher at the Keck School of Medicine of USC. His laboratory develops next-generation therapies for inherited peroxisomal disorders, leveraging advances in gene augmentation, genome editing, and small-molecule discovery to address diseases that currently lack effective treatments.

His research focuses on disorders caused by defects in peroxisome assembly, structure, and function, including Zellweger spectrum disorder, rhizomelic chondrodysplasia punctata, adult Refsum disease, and adrenoleukodystrophy. These devastating conditions affect multiple organ systems and can lead to progressive vision and hearing loss, neurodegeneration, liver disease, skeletal abnormalities, and premature mortality.

Drawing on expertise in human genetics, disease modeling, and therapeutic development, Dr. Hacia’s laboratory employs state-of-the-art mouse models to evaluate gene replacement, base editing, and other precision genome engineering approaches aimed at correcting the underlying genetic causes of disease. His work seeks to translate recent breakthroughs in genetic medicine into transformative therapies for individuals living with rare peroxisomal disorders.

Dr. Hacia works closely with physician-scientists, biotechnology partners, and patient advocacy organizations to accelerate the path from laboratory discovery to clinical impact. He serves as the corresponding Principal Investigator of the NIH-funded Mouse Peroxisome Research Resource, which develops and distributes high-impact mouse models that support peroxisome research worldwide.

Affiliations: Global Foundation for Peroxisomal Disorders; RhizoKids International; United Leukodystrophy Foundation; Global DARE Foundation; Hannah’s Hope Fund; American Society of Gene and Cell Therapy; American Society of Human Genetics; The Jackson Laboratory (Adjunct Faculty); National Institutes of Health (former Visiting Scientist).

• Global Leukodystrophy Initiative (GLIA): Group Leader, Zellweger Spectrum Disorder Work Group, 2025
   – 2025
• American Society of Gene and Cell Therapy: Chaired Session at ASGCT meeting on Targeted Nanosystems For Gene Transfer And Editing, 2025
• American Society of Gene and Cell Therapy: Chaired Invited Session at ASGCT meeting on Why do Rare Disease Clinical Trials Often Miss the Mark?, 2024
• 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 Face the Facts: The Impact of Advances in Data Science, 2024
• University of Southern California: Kaiser-Permanente Excellence in Teaching Award for the Basic Science Years of Medical School, 2023
• 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
• Global Leukodystrophy Initiative (GLIA): Group Leader, Adult Refsum Disease Work Group, 2022
   – 2022
• University of Southern California: Alpha Omega Alpha (AOA) Medical Honor Society by vote of the Class of 2022, Keck School of Medicine, 2022
• Global DARE Foundation: Chair Scientific Advisory Board, Global DARE Foundation, 2022
• University of Southern California: Kaiser-Permanente Excellence in Teaching Award for the Basic Science Years of Medical School, 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
• University of Southern California: Year 1 USC Medical Teaching Award, 2016
• RhizoKids International: Member, Scientific Advisory Board, RhizoKids International, 2016
• Kennedy Krieger Institute: Chaired Session at ‘Leukodystrophies Conference’ in Baltimore, Maryland, 2016
• BMC Medical Genomics: Editorial Board BMC Medical Genomics, 2016
• University of Southern California: Master Teacher of the Keck School of Medicine of USC, 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
• University of Southern California: Year 2 USC Medical Teaching Award, 2015
• ALD Connect: Member of X-linked Adrenoleukodystrophy (ALD) Connect Workgroup on Therapy Review, 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
• 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
• BMC Genomics: Editorial Board BMC Genomics, 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

• Rutgers University, New Brunswick, NJ — BS — 05/1989 — Biochemistry
• California Institute of Technology, Pasadena, CA — PhD — 02/1995 — Biology
• National Institutes of Health, Bethesda, MD — Post-doc — 11/2000 — Genetics/Genomics

• A Mouse Model Resource for Peroxisome Research
  NIH/OD · R24OD030033 · Apr 15, 2022 – Jan 31, 2027 · Role: Corresponding PI
• A Mouse Model Resource for Peroxisome Research
  NIH · R24OD030033 · Apr 15, 2022 – Jan 31, 2026 · Role: Principal Investigator
• USC FaceBase III Craniofacial Development and Dysmorpholoy Data Management and Integration Hub
  NIH · U01DE028729 · Aug 1, 2019 – Jul 31, 2024 · Role: Co-Investigator
• CRE MOUSE MODELS TO STUDY AMELOGENESIS
  NIH · UG3DE028850 · Aug 1, 2019 – Jul 31, 2021 · Role: Co-Investigator
• Development of Targeted Therapies for Peroxisome Biogenesis Disorders: Current and future prospects
  NIH · R13NS100379 · Sep 30, 2016 – Aug 31, 2018 · Role: Principal Investigator
• Targeted Therapies for Peroxisome Biogenesis Disorders
  Global Foundation for Peroxisomal Disorders · Sep 1, 2013 – Dec 31, 2019 · Role: Principal Investigator
• NINDS Exploratory/Developmental Projects in Translational Research
  NIH · R21NS064572 · Sep 15, 2008 – Aug 31, 2011 · Role: Principal Investigator
• Mutational Analysis of Peroxisome Biogenesis Disorders
  NIH · R21HD050277 · Aug 3, 2005 – Jul 31, 2008 · Role: Principal Investigator
• Comparative Genomics of Peroxisomal Lipid Metabolism
  NIH · R01GM072477 · Apr 1, 2005 – Mar 31, 2011 · Role: Principal Investigator

• inborn errors of metabolism
• genetically engineered mouse models
• retinal gene therapy
• gene editing
• small molecule screening
• medical education

• Promising peroxisomal disorder research published! (04/27/2026)
• Base editing repairs mutation and liver function in mouse model of Zellweger spectrum disorder (04/14/2026)
• In mice, gene editing repairs a mutation that causes rare liver disorder (04/14/2026)
• The baby whose life was saved by the first personalized CRISPR therapy (12/08/2025)
• Personalized gene editing helped one baby: can it be rolled out widely? (10/31/2025)
• These Patients Got the Cure. Then It Went Away (09/22/2025)
• World first: ultra-powerful CRISPR treatment trialled in a person (05/19/2025)
• Joe Hacia, PhD receives the Kaiser-Permanente Excellence in Teaching Award (03/31/2023)
• NIH grant establishes Mouse Mutant Peroxisome Research Resource (03/14/2023)
• Base Editing Provides Potential Cure For Sickle Cell Disease Says Scientists (06/02/2021)
• New method to edit cell's ‘powerhouse' DNA could help study variety of genetic diseases (07/08/2020)
• AmorChem invests in a new gene therapy approach to help patients with a devastating orphan disease (02/24/2020)
• Dr. Joseph Hacia Creates Mosaic for GFPD Kids (09/08/2015)
• Drug mechanism questioned (06/23/2013)
• Chimps May Have Something to Tell Us (04/12/2002)

• Chai, Yang
• Patel, Biren
• Lenz, Heinz-Josef
• Paine, Michael
• Farnham, Peggy
• Magee, William