In the recent NEJM essay p53 and me, Shekinah N.C. Elmore describes the experience of living with a genetic diagnosis as "flying between fatalism and denial". Dr. Elmore was diagnosed with Li–Fraumeni syndrome during her 1st year of medical school having already survived childhood rhabdomyosarcoma and simultaneous diagnoses of breast and lung cancer as an adult. Dr. Elmore explores what it means in her life to have this genetic knowledge, how it affects her life, and what types of information would help her and others undergoing genetic testing in the future.
To learn more about genetic testing, genetic counseling, Li–Fraumeni syndrome, and other genetics topics, explore the Genetics Journal Club and Himmelfarb Library's resources including:
- McCarthy, J., & Mendelsohn, B. A. (2016). Precision Medicine: A Guide to Genomics in Clinical Practice. McGraw-Hill Medical Publishing Division.
- Gardner, R. J. M., & Amor, D. J. (2018). Chromosome abnormalities and genetic counseling (Fifth ed.). New York, NY: Oxford University Press.
- Nussbaum, R. L., McInnes, R. R., & Willard, H. F. (2016). Thompson & Thompson genetics in medicine (Eighth ed.). Philadelphia, PA: Elsevier/Saunders.
- David, S. P., editor, Ginsburg, G. S., & Willard, H. F. (2017). Genomic and precision medicine (Third ed.). London; 4: Academic Press, an imprint of Elsevier.
Can gene therapy eliminate the need for blood transfusions for patients with transfusion-dependent β thalassemia?
This article reports the results of two phase 1-2 studies studied on the use of a gene therapy. In these studies, patients with transfusion-depenent β-thalassemia received gene therapy to assess if this therapy would substitute for the standard therapy, red-cell blood transfusions. The researchers were assessing both the safety and the efficacy of this gene therapy. You can read the results of this study in the New England Journal of Medicine.
Thompson, A. A., Walters, M. C., Kwiatkowski, J., Rasko, J. E., Ribeil, J. A., Hongeng, S., ... & Moshous, D. (2018). Gene therapy in patients with transfusion-dependent β-thalassemia. New England Journal of Medicine, 378(16), 1479-1493.
To learn more about this area of gene therapy, explore additional readings from Himmelfarb Library's full-text collection:
- Boulad F, Mansilla-Soto J, Cabriolu A, Rivière I, Sadelain M. Gene Therapy and
Genome Editing. Hematol Oncol Clin North Am. 2018 Apr;32(2):329-342. doi:
10.1016/j.hoc.2017.11.007. Epub 2018 Jan 9. Review. PubMed PMID: 29458735.
- Ferrari G, Cavazzana M, Mavilio F. Gene Therapy Approaches to
Hemoglobinopathies. Hematol Oncol Clin North Am. 2017 Oct;31(5):835-852. doi:
10.1016/j.hoc.2017.06.010. Review. PubMed PMID: 28895851.
- Glaser A, McColl B, Vadolas J. The therapeutic potential of genome editing for
β-thalassemia. F1000Res. 2015 Dec 11;4. pii: F1000 Faculty Rev-1431. doi:
10.12688/f1000research.7087.1. eCollection 2015. Review. PubMed PMID: 26918126;
PubMed Central PMCID: PMC4753996.
Explore more of Himmelfarb Library's genetics collection by checking out:
Have library fines? Participate in our Food for Fines Drive!
Until May 25th, for every non-perishable item you bring to the Circulation Desk, you can clear a dollar off your fines! All items will be donated to The Store, a student-run food pantry at GW.
Clear out your pantry, settle up your fines, and help people in need!