May 2018 – The Rotation: A Himmelfarb Library Blog

Between fatalism and denial: living with a genetic diagnosis

Laura AbateMay 31, 2018September 13, 2021

puzzle 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.

Gene therapy for transfusion-dependent beta thalassemia patients?

Laura AbateMay 16, 2018September 13, 2021

https://youtu.be/uQjOTTAlgjE

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:

Who is talking about your research?

himmelfarbMay 10, 2018

PlumX metrics are now available in Himmelfarb Library's Research Commons, a repository of research output for GW's Milken Institute School of Public Health, the School of Medicine and Health Sciences, and the School of Nursing.

PlumX provides non-traditional metrics like Altmetric (social media shares, mentions, etc.), as well as more traditional metrics including citation indexes. PlumX provides information about what's happening with research post-publication including usage, captures, mentions, social media, and citations.

To get an idea of what PlumX can tell you about an article, check out this article by GW faculty published last year and mouse over the PlumX Metrics button on the right side of the screen:

Bustos, M., Caritis, S., Jablonski, K., et al. (2017). The Association Among Cytochrome P450 3A, Progesterone Receptor Polymorphisms, Plasma 17-alpha Hydroxyprogesterone Caproate Concentrations, and Spontaneous Preterm Birth. American Journal of Obstetrics and Gynecology, 217 (3).http://dx.doi.org/10.1016/j.ajog.2017.05.019

If you have questions regarding the Research Commons, please contact Meaghan Heselden (corbettm@email.gwu.edu).

New Resource: DNP Project Repository

himmelfarbMay 8, 2018January 23, 2024

A new Doctor of Nursing Practice (DNP) Project Repository recently was developed by the School of Nursing in collaboration with Himmelfarb Library's Research Commons.

The DNP Project Repository archives all doctoral projects completed within GW’s DNP program. It is used to advance nursing practice by preserving, archiving, and sharing these projects in a permanent digital archive even after student graduation. In addition, the repository can assist current and future DNP students in developing their own projects.

The repository is an open-access site that is searchable and discoverable via search engines. Students retain copyright of their work and receive a unique, persistent URL that can be shared with colleagues and added to their CV/resume.

The DNP Project Repository was pilot tested in October 2017 with several 2017 DNP graduates. The Repository has now gone live and DNP students graduating in May 2018 are in the process of submitting their projects.

Be sure to check them out at hsrc.himmelfarb.gwu.edu/son_dnp/.

Wipe out your fines – give food for fines!

himmelfarbMay 7, 2018

Have library fines? Participate in our Food for Fines Drive!

476.1996.1

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!

image: https://www.google.com/search?q=moma+tomato+soup&tbm=isch&tbo=u&source=univ&sa=X&ved=0ahUKEwj5xfHfv73TAhWF4CYKHfzOA0EQiR4IjAE&biw=1406&bih=912#imgrc=JnowrUJNYro3IM:

Month: May 2018