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Luke Judge, MD, PhD

Photo of Luke Judge, MD, PhD
Title(s)Professor, Pediatrics
SchoolSchool of Medicine
Address550 16th Street, #5515
San Francisco CA 94158
PronounsHe/Him/His
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    Collapse Overview 
    Collapse overview
    Dr. Judge is a physician-scientist with extensive experience with mouse and human models of genetic disease and developing gene therapy approaches. His current research utilizes induced pluripotent stem cells (iPSC) and gene editing to develop models and therapies for neuromuscular and cardiac diseases. He is particularly focused on allele-specific gene editing for dominant disorders caused by single-nucleotide missense mutations. Dr. Judge is also an Affiliate Investigator at the Gladstone Institute of Data Science and Biotechnology and a practicing neonatologist at UCSF Benioff Children’s Hospital. He is an active mentor in both the clinical and laboratory realms and directs the Neonatal-Perinatal Medicine Fellowship Program.

    Collapse Biography 
    Collapse education and training
    University of California, San FranciscoFellowship2014Neonatal-Perinatal Medicine
    University of California, San FranciscoResidency2011Pediatrics
    University of WashingtonM.D.2008Medicine
    University of WashingtonPh.D.2006Molecular and Cellular Biology
    Pomona CollegeB.A.1997Chemistry
    University of California, San Francisco, CA2019Diversity, Equity, and Inclusion Champion Training

    Collapse Research 
    Collapse research activities and funding
    Allele-specific inactivation for dominant negative NEFL Mutations
    NIH R01NS119678Aug 15, 2021 - Jun 30, 2026
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Leveraging human genetic variation to therapeutically target hundreds of genes with dominant & dispensable disease alleles. medRxiv. 2026 Mar 27. Ramey GD, Cowan QT, Saxena AG, Macklin BL, Watry HL, Mei X, Dierks P, Judge LM, Conklin BR, Capra JA. PMID: 41929339; PMCID: PMC13042096.
      View in: PubMed   Mentions:
    2. Monitoring biological effects of somatic cell genome editing. Nat Rev Genet. 2026 Apr; 27(4):323-342. Freedman BS, Bulte JWM, Conklin BR, Judge LM, Dwinell MR, Geurts AM, Sitton MJ, Mahajan V, Kiani S, Gersbach CA, Ebrahimkhani MR, Kelly JJ, Ronald JA, Morizane R, Gupta N, Shakeri-Zadeh A, Vo N, Saha K, Saxena S, Gamm DM, Sinha D, Tarantal AF, Vandsburger M, Matsubara A, Fu H, Tsai SQ, SCGE Dissemination and Coordinating Center Toolkit Team, SCGE Biological Effects Initiative. PMID: 41530266; PMCID: PMC13101755.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    3. Generation of WTD, a control human iPSC line for genetic research. Stem Cell Res. 2025 Dec; 89:103872. Macklin BL, Runyon WV, Feliciano CM, Dierks PH, Kelly KR, Watry HL, Judge LM, Conklin BR. PMID: 41330274.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    4. Haplotype editing with CRISPR-Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL. Mol Ther. 2026 Mar 04; 34(3):1633-1651. Dua PH, Simon BMJ, Marley CBE, Feliciano CM, Watry HL, Cowan QT, Steury D, Abraham A, Gilbertson EN, Ramey GD, Capra JA, Conklin BR, Judge LM. PMID: 41267399; PMCID: PMC12974165.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    5. Characterizing and controlling CRISPR repair outcomes in nondividing human cells. Nat Commun. 2025 Nov 17; 16(1):9883. Ramadoss GN, Namaganda SJ, Kumar MM, Hamilton JR, Sharma R, Chow KG, Workley LA, Macklin BL, Sun M, Ha AS, Liu JC, Fellmann C, Watry HL, Dierks PH, Bose RS, Jin J, Perez BS, Sandoval Espinoza CR, Matia MP, Lu SH, Judge LM, Shy BR, Nussenzweig A, Adamson B, Murthy N, Doudna JA, Kampmann M, Conklin BR. PMID: 41249169; PMCID: PMC12623481.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    6. A microphysiological system for screening lipid nanoparticle-mRNA complexes predicts in vivo heart transfection efficacy. Nat Biomed Eng. 2025 Nov 03. Neiman G, Costa MW, Han H, Zhao S, K Ng T, Siemons B, Nishino T, Huang Y, Lal S, Wu K, M Judge L, R Conklin B, Srivastava D, Murthy N, Healy KE. PMID: 41184608.
      View in: PubMed   Mentions: 1     Fields:    
    7. Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with BAG3 P209L myofibrillar myopathy-6. Stem Cell Res. 2025 Aug; 86:103718. Filippi K, Riße I, Judge LM, Conklin BR, Fleischmann BK, Hesse M. PMID: 40318522.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    8. Generation and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6. Stem Cell Res. 2025 02; 82:103626. Filippi K, Riße I, Judge LM, Conklin BR, Fleischmann BK, Hesse M. PMID: 39662461.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    9. Advances and challenges in modeling inherited peripheral neuropathies using iPSCs. Exp Mol Med. 2024 Jun; 56(6):1348-1364. Van Lent J, Prior R, Pérez Siles G, Cutrupi AN, Kennerson ML, Vangansewinkel T, Wolfs E, Mukherjee-Clavin B, Nevin Z, Judge L, Conklin B, Tyynismaa H, Clark AJ, Bennett DL, Van Den Bosch L, Saporta M, Timmerman V. PMID: 38825644; PMCID: PMC11263568.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    10. Functional analysis of a common BAG3 allele associated with protection from heart failure. Nat Cardiovasc Res. 2023 07; 2(7):615-628. Perez-Bermejo JA, Judge LM, Jensen CL, Wu K, Watry HL, Truong A, Ho JJ, Carter M, Runyon WV, Kaake RM, Pulido EH, Mandegar MA, Swaney DL, So PL, Krogan NJ, Conklin BR. PMID: 39195919; PMCID: PMC12360617.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    11. Allele-Specific Gene Editing Rescues Pathology in a Human Model of Charcot-Marie-Tooth Disease Type 2E. Front Cell Dev Biol. 2021; 9:723023. Feliciano CM, Wu K, Watry HL, Marley CBE, Ramadoss GN, Ghanim HY, Liu AZ, Zholudeva LV, McDevitt TC, Saporta MA, Conklin BR, Judge LM. PMID: 34485306; PMCID: PMC8415563.
      View in: PubMed   Mentions: 18  
    12. Bioengineered optogenetic model of human neuromuscular junction. Biomaterials. 2021 09; 276:121033. Vila OF, Chavez M, Ma SP, Yeager K, Zholudeva LV, Colón-Mercado JM, Qu Y, Nash TR, Lai C, Feliciano CM, Carter M, Kamm RD, Judge LM, Conklin BR, Ward ME, McDevitt TC, Vunjak-Novakovic G. PMID: 34403849; PMCID: PMC8439334.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    13. Rapid, precise quantification of large DNA excisions and inversions by ddPCR. Sci Rep. 2020 09 10; 10(1):14896. Watry HL, Feliciano CM, Gjoni K, Takahashi G, Miyaoka Y, Conklin BR, Judge LM. PMID: 32913194; PMCID: PMC7483445.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    14. Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes. Nat Genet. 2019 08; 51(8):1252-1262. Song M, Yang X, Ren X, Maliskova L, Li B, Jones IR, Wang C, Jacob F, Wu K, Traglia M, Tam TW, Jamieson K, Lu SY, Ming GL, Li Y, Yao J, Weiss LA, Dixon JR, Judge LM, Conklin BR, Song H, Gan L, Shen Y. PMID: 31367015; PMCID: PMC6677164.
      View in: PubMed   Mentions: 114     Fields:    Translation:HumansCells
    15. Unbiased detection of CRISPR off-targets in vivo using DISCOVER-Seq. Science. 2019 Apr 19; 364(6437):286-289. Wienert B, Wyman SK, Richardson CD, Yeh CD, Akcakaya P, Porritt MJ, Morlock M, Vu JT, Kazane KR, Watry HL, Judge LM, Conklin BR, Maresca M, Corn JE. PMID: 31000663; PMCID: PMC6589096.
      View in: PubMed   Mentions: 219     Fields:    Translation:HumansAnimalsCells
    16. Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. Am J Med Genet A. 2018 12; 176(12):2877-2881. Abu-El-Haija A, Fineman J, Connolly AJ, Murali P, Judge LM, Slavotinek AM. PMID: 30380203.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    17. Variable rescue of microtubule and physiological phenotypes in mdx muscle expressing different miniaturized dystrophins. Hum Mol Genet. 2018 06 15; 27(12):2090-2100. Nelson DM, Lindsay A, Judge LM, Duan D, Chamberlain JS, Lowe DA, Ervasti JM. PMID: 29618008; PMCID: PMC5985723.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansAnimalsCells
    18. A BAG3 chaperone complex maintains cardiomyocyte function during proteotoxic stress. JCI Insight. 2017 Jul 20; 2(14). Judge LM, Perez-Bermejo JA, Truong A, Ribeiro AJ, Yoo JC, Jensen CL, Mandegar MA, Huebsch N, Kaake RM, So PL, Srivastava D, Pruitt BL, Krogan NJ, Conklin BR. PMID: 28724793; PMCID: PMC5518554.
      View in: PubMed   Mentions: 59     Fields:    
    19. Miniaturized iPS-Cell-Derived Cardiac Muscles for Physiologically Relevant Drug Response Analyses. Sci Rep. 2016 Apr 20; 6:24726. Huebsch N, Loskill P, Deveshwar N, Spencer CI, Judge LM, Mandegar MA, Fox CB, Mohamed TM, Ma Z, Mathur A, Sheehan AM, Truong A, Saxton M, Yoo J, Srivastava D, Desai TA, So PL, Healy KE, Conklin BR. PMID: 27095412; PMCID: PMC4837370.
      View in: PubMed   Mentions: 129     Fields:    Translation:HumansCells
    20. CRISPR Interference Efficiently Induces Specific and Reversible Gene Silencing in Human iPSCs. Cell Stem Cell. 2016 Apr 07; 18(4):541-53. Mandegar MA, Huebsch N, Frolov EB, Shin E, Truong A, Olvera MP, Chan AH, Miyaoka Y, Holmes K, Spencer CI, Judge LM, Gordon DE, Eskildsen TV, Villalta JE, Horlbeck MA, Gilbert LA, Krogan NJ, Sheikh SP, Weissman JS, Qi LS, So PL, Conklin BR. PMID: 26971820; PMCID: PMC4830697.
      View in: PubMed   Mentions: 295     Fields:    Translation:HumansCells
    21. Automated Video-Based Analysis of Contractility and Calcium Flux in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Cultured over Different Spatial Scales. Tissue Eng Part C Methods. 2015 May; 21(5):467-79. Huebsch N, Loskill P, Mandegar MA, Marks NC, Sheehan AS, Ma Z, Mathur A, Nguyen TN, Yoo JC, Judge LM, Spencer CI, Chukka AC, Russell CR, So PL, Conklin BR, Healy KE. PMID: 25333967; PMCID: PMC4410286.
      View in: PubMed   Mentions: 180     Fields:    Translation:HumansCells
    22. Isolation of single-base genome-edited human iPS cells without antibiotic selection. Nat Methods. 2014 Mar; 11(3):291-3. Miyaoka Y, Chan AH, Judge LM, Yoo J, Huang M, Nguyen TD, Lizarraga PP, So PL, Conklin BR. PMID: 24509632; PMCID: PMC4063274.
      View in: PubMed   Mentions: 186     Fields:    Translation:HumansCells
    23. Expression of the dystrophin isoform Dp116 preserves functional muscle mass and extends lifespan without preventing dystrophy in severely dystrophic mice. Hum Mol Genet. 2011 Dec 15; 20(24):4978-90. Judge LM, Arnett AL, Banks GB, Chamberlain JS. PMID: 21949353; PMCID: PMC3221536.
      View in: PubMed   Mentions: 18     Fields:    Translation:AnimalsCells
    24. The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins. PLoS Genet. 2010 May 20; 6(5):e1000958. Banks GB, Judge LM, Allen JM, Chamberlain JS. PMID: 20502633; PMCID: PMC2873924.
      View in: PubMed   Mentions: 61     Fields:    Translation:Animals
    25. Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin. J Cell Sci. 2010 Jun 15; 123(Pt 12):2008-13. Li D, Bareja A, Judge L, Yue Y, Lai Y, Fairclough R, Davies KE, Chamberlain JS, Duan D. PMID: 20483958; PMCID: PMC2880012.
      View in: PubMed   Mentions: 61     Fields:    Translation:HumansAnimalsCells
    26. Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy. J Clin Invest. 2009 Mar; 119(3):624-35. Lai Y, Thomas GD, Yue Y, Yang HT, Li D, Long C, Judge L, Bostick B, Chamberlain JS, Terjung RL, Duan D. PMID: 19229108; PMCID: PMC2648692.
      View in: PubMed   Mentions: 226     Fields:    Translation:HumansAnimalsCells
    27. Dissecting the signaling and mechanical functions of the dystrophin-glycoprotein complex. J Cell Sci. 2006 Apr 15; 119(Pt 8):1537-46. Judge LM, Haraguchiln M, Chamberlain JS. PMID: 16569668.
      View in: PubMed   Mentions: 58     Fields:    Translation:AnimalsCells
    28. Gene therapy for Duchenne muscular dystrophy: AAV leads the way. Acta Myol. 2005 Dec; 24(3):184-93. Judge LM, Chamberlain JS. PMID: 16629052.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    29. Discovery and SAR of a novel selective and orally bioavailable nonpeptide classical competitive inhibitor class of protein-tyrosine phosphatase 1B. J Med Chem. 2002 Sep 26; 45(20):4443-59. Andersen HS, Olsen OH, Iversen LF, Sørensen AL, Mortensen SB, Christensen MS, Branner S, Hansen TK, Lau JF, Jeppesen L, Moran EJ, Su J, Bakir F, Judge L, Shahbaz M, Collins T, Vo T, Newman MJ, Ripka WC, Møller NP. PMID: 12238924.
      View in: PubMed   Mentions: 20     Fields:    Translation:AnimalsCells
    30. A convenient large-scale chiral synthesis of protected 2-substituted 4-oxo-piperidine derivatives. Tetrahedron. 2002 Sep 1; 58(36):7339-7344. Lau LJ, Hansen HT, Kilburn KJ, Frydenvang FK, Holsworth HD, Ge GY, Uyeda UR, Judge JL, Andersen AH. .
      View in: Publisher Site   Mentions:
    31. Protein engineering of protein kinase A catalytic subunits results in the acquisition of novel inhibitor sensitivity. J Biol Chem. 2002 Aug 09; 277(32):28916-22. Niswender CM, Ishihara RW, Judge LM, Zhang C, Shokat KM, McKnight GS. PMID: 12034735.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    32. A hydrazino nicotinamide derivative of cholesterol for radiolabelling liposomes with 99mTc. Journal of Labelled Compounds and Radiopharmaceuticals. 1999 Jan 1; 42(1):23-28. Judge JL, O'Leary OD, Fujii FG, Skenes SC, Paquette PT, Proffitt PR. .
      View in: Publisher Site   Mentions:
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