Luke Judge, MD, PhD
Associate Professor
Pediatrics
School of Medicine

He is funded by the NIH and Charcot-Marie-Tooth Association to evaluate therapeutic gene editing strategies in human and murine models of genetic neuropathy and published the first study of a gene editing approach for axonal neuropathy (Feliciano et al, 2021). Dr. Judge is an Affiliate Investigator in the Gladstone Institute of Data Science and Biotechnology as well as a practicing neonatologist at UCSF Benioff Children’s Hospital. He is an active mentor in both the clinical and laboratory realms and directs the fellowship program in Neonatal-Perinatal medicine.

• Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes.
  Nature genetics 2019 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
• Unbiased detection of CRISPR off-targets in vivo using DISCOVER-Seq.
  Science (New York, N.Y.) 2019 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
• cis-Regulatory Chromatin Contacts in Neural Cells Reveal Contributions of Genetic Variants to Complex Neurological Disorders.
  bioRxiv 2018 Michael Song, Xiaoyu Yang, Xingjie Ren, Lenka Maliskova, Bingkun Li, Ian Jones, Chao Wang, Fadi Jacob, Kenneth Wu, Michela Traglia, Tsz Wai Tam, Kirsty Jamieson, Si-Yao Lu, Guo-Li Ming, Jun Yao, …
• Unbiased detection of CRISPR off-targets in vivo using DISCOVER-Seq.
  bioRxiv 2018 Beeke Wienert, Stacia K Wyman, Christopher D Richardson, Charles D Yeh, Pinar Akcakaya, Michelle J Porritt, Michaela Morlock, Jonathan T Vu, Katelynn R Kazane, Hannah L Watry, Luke M Judge, Bruce R …
• Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes.
  American journal of medical genetics. Part A 2018 Abu-El-Haija A, Fineman J, Connolly AJ, Murali P, Judge LM, Slavotinek AM
• Variable rescue of microtubule and physiological phenotypes in mdx muscle expressing different miniaturized dystrophins.
  Human molecular genetics 2018 Nelson DM, Lindsay A, Judge LM, Duan D, Chamberlain JS, Lowe DA, Ervasti JM
• Variable rescue of microtubule and physiological phenotypes in mdx muscle expressing different miniaturized dystrophins.
  Human molecular genetics 2018 Nelson DM, Lindsay A, Judge LM, Duan D, Chamberlain JS, Lowe DA, Ervasti JM
• A BAG3 chaperone complex maintains cardiomyocyte function during proteotoxic stress.
  JCI insight 2017 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
• Miniaturized iPS-Cell-Derived Cardiac Muscles for Physiologically Relevant Drug Response Analyses.
  Scientific reports 2016 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
• CRISPR Interference Efficiently Induces Specific and Reversible Gene Silencing in Human iPSCs.
  Cell stem cell 2016 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,…
• Automated Video-Based Analysis of Contractility and Calcium Flux in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Cultured over Different Spatial Scales.
  Tissue engineering. Part C, Methods 2015 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
• Isolation of single-base genome-edited human iPS cells without antibiotic selection.
  Nature methods 2014 Miyaoka Y, Chan AH, Judge LM, Yoo J, Huang M, Nguyen TD, Lizarraga PP, So PL, Conklin BR
• Expression of the dystrophin isoform Dp116 preserves functional muscle mass and extends lifespan without preventing dystrophy in severely dystrophic mice.
  Human molecular genetics 2011 Judge LM, Arnett AL, Banks GB, Chamberlain JS
• The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins.
  PLoS genetics 2010 Banks GB, Judge LM, Allen JM, Chamberlain JS
• Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin.
  Journal of cell science 2010 Li D, Bareja A, Judge L, Yue Y, Lai Y, Fairclough R, Davies KE, Chamberlain JS, Duan D
• Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy.
  The Journal of clinical investigation 2009 Lai Y, Thomas GD, Yue Y, Yang HT, Li D, Long C, Judge L, Bostick B, Chamberlain JS, Terjung RL, Duan D
• Dissecting the signaling and mechanical functions of the dystrophin-glycoprotein complex.
  Journal of cell science 2006 Judge LM, Haraguchiln M, Chamberlain JS
• Gene therapy for Duchenne muscular dystrophy: AAV leads the way.
  Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2005 Judge LM, Chamberlain JS
• Discovery and SAR of a novel selective and orally bioavailable nonpeptide classical competitive inhibitor class of protein-tyrosine phosphatase 1B.
  Journal of medicinal chemistry 2002 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 …
• A convenient large-scale chiral synthesis of protected 2-substituted 4-oxo-piperidine derivatives.
  Tetrahedron 2002 Jesper F Lau, Thomas Kruse Hansen, John Paul Kilburn, Karla Frydenvang, Daniel D Holsworth, Yu Ge, Roy T Uyeda, Luke M Judge, Henrik Sune Andersen
• Protein engineering of protein kinase A catalytic subunits results in the acquisition of novel inhibitor sensitivity.
  The Journal of biological chemistry 2002 Niswender CM, Ishihara RW, Judge LM, Zhang C, Shokat KM, McKnight GS
• A hydrazino nicotinamide derivative of cholesterol for radiolabelling liposomes with 99mTc.
  Journal of Labelled Compounds and Radiopharmaceuticals 1999 Luke M. Judge, Daniel J. O'Leary, Gary Fujii, Craig Skenes, Tom Paquette, Richard T. Proffitt