How can we treat chromosomal abnormalities?
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Necessity
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Conciseness
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[1]New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding genetics: a New York, mid-Atlantic guide for patients and health professionals. Lulu. com, 2009.
[2]Wolff, Sheldon. “Chromosome aberrations.” Radiation Protection and Recovery (A. Hollaender, ed.) 7 (2013): 157-174.
[3]Kazemi, Mohammad, Mansoor Salehi, and Majid Kheirollahi. "Down syndrome: current status, challenges and future perspectives." International journal of molecular and cellular medicine 5.3 (2016): 125.
Creative contributions
Using XIST controlled dosage compensation to rectify trisomy
[1]Jiang, J., Jing, Y., Cost, G. et al. Translating dosage compensation to trisomy 21. Nature 500, 296–300 (2013). https://doi.org/10.1038/nature12394
[2]Disteche, C. M. (2012). Dosage Compensation of the Sex Chromosomes. Annual Review of Genetics, 46(1), 537–560. https://doi.org/10.1146/annurev-genet-110711-155454
[3]Andrew J. Sharp, Hugh T. Spotswood, David O. Robinson, Bryan M. Turner, Patricia A. Jacobs, Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations, Human Molecular Genetics, Volume 11, Issue 25, 1 December 2002, Pages 3145–3156, https://doi.org/10.1093/hmg/11.25.3145
[4]Fabio Savarese, Katja Flahndorfer, Rudolf Jaenisch, Meinrad Busslinger, Anton Wutz Hematopoietic Precursor Cells Transiently Reestablish Permissiveness for XInactivation Molecular and Cellular Biology Sep 2006, 26 (19) 7167-7177; DOI: 10.1128/MCB.00810-06
[5]Berletch, J.B., Yang, F., Xu, J. et al. Genes that escape from X inactivation. Hum Genet 130, 237–245 (2011). https://doi.org/10.1007/s00439-011-1011-z
[6]Engreitz, J. M., Pandya-Jones, A., McDonel, P., Shishkin, A., Sirokman, K., Surka, C., Kadri, S., Xing, J., Goren, A., Lander, E. S., Plath, K., & Guttman, M. (2013). The Xist lncRNA Exploits Three-Dimensional Genome Architecture to Spread Across the X Chromosome. Science, 341(6147), 1237973. https://doi.org/10.1126/science.1237973
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Using CRISPR to treat trisomies
![Jamila](https://cdn.brainstorming.com/ugru8c1598541185436.jpg)
[1]Zuo, Erwei, et al. "CRISPR/Cas9-mediated targeted chromosome elimination." Genome biology 18.1 (2017): 224.
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![Antonio Carusillo](https://cdn.brainstorming.com/lhiwda1600618960756.jpg)
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![Manel Lladó Santaeularia](https://cdn.brainstorming.com/55bweq1607614901214.jpg)
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Developing an Inhibitory Cocktail to address Down-Syndrome
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[1]Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome Chang, Pishan et al. Cell Reports, Volume 30, Issue 4, 1152 - 1163.e4
[2]Gough G, O'Brien NL, Alic I, Goh PA, Yeap YJ, Groet J, Nizetic D, Murray A. Modeling Down syndrome in cells: From stem cells to organoids. Prog Brain Res. 2020;251:55-90. doi: 10.1016/bs.pbr.2019.10.003. Epub 2019 Nov 20. PMID: 32057312.
[3]Kurata, M., Yamamoto, K., Moriarity, B.S. et al. CRISPR/Cas9 library screening for drug target discovery. J Hum Genet 63, 179–186 (2018). https://doi.org/10.1038/s10038-017-0376-9
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