Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Nolen N, Aartsma-Rus A, Caneva C, Coughlin Ii CR, Cousin MA, Douthwright C, Graessner H, Kim-McManus O, Kuniholm A, Leonard S, Martinsen A, Meserve M, Synofzik M, Yandava B, Yu TW, Demarest S, Paxton RJ. Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies. Orphanet J Rare Dis. 2026 May 21; 21(1).
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Micha D, Escalante Quir?s S, Eekhoff EMW, Heine VM, Shim JH, Zhytnik L. Modeling rare genetic skeletal disorders with bone organoids: a narrative review. Bone. 2026 04; 205:117799.
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Barrett D, Cannon PM, Mingozzi F, Porteus M, Rivi?re I, Flotte TR. Overcoming barriers to commercially pre-viable gene and cell therapies for rare and ultra-rare diseases. Mol Ther. 2025 Nov 05; 33(11):5316-5326.
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Belgrad J, McConnell E, Leonard S, Nolen N, Lauffer MC, Watts JK, Yu T, Yan WX, Aartsma-Rus A. The N=1 Collaborative: advancing customized nucleic acid therapies through collaboration and data sharing. Nucleic Acids Res. 2025 Apr 22; 53(8).
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Silence C, Rice SM, Liteplo A, McFadden K, Al Jalbout N, Al Saud AA, Gao J, Kourosh AS. Deoxycholic Acid for Dercum Disease: Repurposing a Cosmetic Agent to Treat a Rare Disease. Cutis. 2023 Apr; 111(4):E4-E8.
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Davidson BL, Gao G, Berry-Kravis E, Bradbury AM, B?nnemann C, Buxbaum JD, Corcoran GR, Gray SJ, Gray-Edwards H, Kleiman RJ, Shaywitz AJ, Wang D, Zoghbi HY, Flotte TR, Tauscher-Wisniewski S, Tifft CJ, Sahin M. Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders. Mol Ther. 2022 07 06; 30(7):2416-2428.
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Sharma S, Chanana P, Bharadwaj R, Bhattacharya S, Arya R. Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder. Biochimie. 2022 Aug; 199:36-45.
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Bettio C, Salsi V, Orsini M, Calanchi E, Magnotta L, Gagliardelli L, Kinoshita J, Bergamaschi S, Tupler R. The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease. Orphanet J Rare Dis. 2021 11 04; 16(1):470.
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Glenn DA, Hogan SL. Big Data and Glomerular Disease: Uncovering Common Outcomes of Rare Disease. J Am Soc Nephrol. 2021 09; 32(9):2106-2108.
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Pasquini TLS, Goff SL, Whitehill JM. Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents' experiences. Orphanet J Rare Dis. 2021 07 15; 16(1):313.