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Genetics Journal Club: 2019-20

A journal club for GWUMC faculty, fellows, residents and students interested in genetics.

May 2020

April 2020

March 2020

February 2020

January 2020

December 2019

November 2019

October 2019

September 2019

August 2019

July 2019

January 2020

A scientist wrongfully imprisoned?  Or, a scientist who ignored ethical principles and scientific standards?

Dr. He Jiankui earned a PhD from Rice University in 2010, did postdoctoral work at Stanford University, and returned to China in 2012 to work in the Southern University of Science and Technology.  In 2018, Dr. Jiankui confirmed reports that he had edited the genomes of embryos using CRISPR, transferred them to women's uteruses, and that a set of twin girls had been born.  Subsequently, Dr. Jiankui was placed on unpaid leave and eventually dismissed from Southern University of Science and Technology.  In late 2019, Dr. Jiankui was sentenced to three years in prison and fined about $430,000 U.S. dollars for having "forged ethical review documents and misled doctors into unknowingly implanting gene-edited embryos into two women."

So what happened?  Did Dr. Jiankui go too far, too fast?  Or did China stifle on a cutting edge researcher?  Read these articles to understand the science, ethics, and researchers involved in this story:

Genomics and clinical care

Genomics and Clinical Care

Are you interested in how genomics can be used in clinical care?  A recent review in The Lancet discusses future directions for clinical application and discusses how specific technologies can be applied including: family health history, clinically important genomic variation, SNP array genotyping, and genome sequencing.  The article also discusses clinically relevant issues such as the disclosure of information to patients, the process of sharing genomic test results with patients, and patient-oriented resources and genomic medicine studies.  This article as well as additional full-text articles is available in Himmelfarb Library's full-text collection:

To get background information on genomics, consult a title from Himmelfarb's book collection which includes:

 

Image citation: Del Aguila, E. (No date). Image of young child with double helix [Online image].  Retrieve from https://www.nih.gov/news-events/news-releases/nih-accelerates-use-genomics-clinical-care on September 3, 2019.

NEJM: Gene Therapy

NEJM: Gene Therapy

What's the state of the art for gene therapy?  It can be challenging to remain abreast of this fast-moving field but a recent review article in the New England Journal of Medicine can help update your knowledge.  In Gene Therapy, Dr. Katherine High and Dr. Maria Roncarolo describe the basic principles of in vivo and ex vivo gene therapy as well as specific therapies in use and in development.  The article also includes an interactive infographic to support learning and teaching as well as an interview with Dr. High. 

Explore additional genetics articles by searching Himmelfarb Library‘s PubMed which provides direct links to articles in our online collections or Health Information @ Himmelfarb to locate e-books, print books, and other materials with information on genetics.

Genome Sequencing during a Patient’s Journey through Cancer

 

Breakthroughs in gene-sequencing methods and bioinformatics have ushered in a new era in cancer diagnosis and management. Powerful analytic tools are beginning to improve cancer nosology and facilitate the discovery of genetic defects in tumor cells that can be exploited for treatment and the monitoring of disease regression and progression. This article is accompanied by an explanatory video, an illustrated glossary, and an audio interview with one of the authors.

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