Description of Research Expertise

The Miner laboratory studies the intersection of autoimmunity and antiviral immunity, including rare rheumatic diseases caused by mutations in genes that regulate immune responses to DNA and RNA. The laboratory's overarching goal is to better understand and to develop therapies for a group of particularly devastating diseases caused by single-gene mutations.

Key activities in the Miner laboratory include

1. Genome-scale CRISPR screens
2. Development of CRISPR/Cas9 gene editors for treating rare diseases
3. Studies of somatic mutations in autoimmunity
4. Collaborations with medicinal chemists to advance small molecule drugs for the treatment of rare diseases
5. Advancement of novel RNA and DNA lipid nanoparticle technologies
6. Basic and translational biomedical research to advance fundamental human knowledge and therapies for patients

Examples of diseases studied in the Miner laboratory include:
* Retinal vasculopathy with cerebral leukoencephalopathy (RVCL), caused by mutations in TREX1. The Miner laboratory recently discovered that RVCL is a DNA damage syndrome associated with heightened risk of breast cancer. Therapies are in development for patients with RVCL.
* STING-associated vasculopathy with onset in infancy (SAVI), caused by mutations in STING.
* Chronic mucocutaneous candidiasis (CMC), caused by mutations in STAT1
* Monogenic systemic lupus erythematosus (SLE), caused by mutations in NF-kB signaling pathways
* Hemophagocytic lymphohistiocytosis (HLH), caused by mutations in viral RNA-sensing pathways
* Viral infections (e.g., models of chikungunya viral arthritis, and models of Zika virus, West Nile virus, bunyavirus, coronavirus, and herpesvirus pathogenesis).

Selected Publications

Chauvin SD, Ando S, Holley JA, Sugie A, Zhao FR, Poddar S, Kato R, Miner CA, Nitta Y, Krishnamurthy SR, Saito R, Ning Y, Hatano Y, Kitahara S, Koide S, Stinson WA, Fu J, Surve N, Kumble L, Qian W, Polishchuk O, Andhey PS, Chiang C, Liu G, Colombeau L, Rodriguez R, Manel N, Kakita A, Artyomov MN, Schultz DC, Coates PT, Roberson EDO, Belkaid Y, Greenberg RA, Cherry S, Gack MU, Hardy T, Onodera O, Kato T, Miner JJ.: Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans. Nature Communications 15 (1): 4696,2024.

Miner JJ, Fitzgerald KA.: A path towards personalized medicine for autoinflammatory and related diseases Nature Reviews Rheumatol 19 (3): 182-189,2023.

Chauvin SD, Stinson WA, Platt DJ, Poddar S, Miner JJ.: Regulation of cGAS and STING signaling during inflammation and infection Journal of Biological Chemistry 299 (7): 104866,2023.

Platt DJ, Lawrence D, Qian W, Rodger R, Schriefer L, Miner CA, Menos AM, Kennedy EA, Peterson ST, Stinson WA, Baldridge MT, Miner, JJ: Transferrable protection by gut microbes against STING-associated lung disease Cell Rep 35 (6): 109133,2021.

Bennion BG, Croft CA, Ai TL, Qian W, Menos AM, Miner CA, Fremond ML, Doisne JM, Andhey PS, Platt DJ, Bando JK, Wang ER, Luksch H, Molina TJ, Robison EDO, Artyomov MN, Rosen-Wolff A, Colonna M, Rieux-Laucat F, Di Santo JP, Neven B, Miner JJ.: STING gain-of-function disrupts lymph node organogenesis and innate lymphoid cell development in mice. Cell Rep. 31 (11): 107771,2020.

Luksch H, Stinson WA, Platt DJ, Qian W, Kalugotla G, Miner CA, Bennion BG, Gerbaulet A, Rösen-Wolff A, Miner JJ.: STING-associated lung disease in mice relies on T cells but not type I interferon J Allergy Clin Immunol. 144 (1): 154-266,2019.

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Academic Contact Information

522B Johnson Pavilion
3610 Hamilton Walk
Philadelphia, PA 19104
Phone: 215-573-4109
Patient appointments: 800-789-7366