Genetics Journal Club: 2018-2019

In What Defines a Female Athlete?, Doriane Lambelet Coleman make a case for why Caster Semenya's testosterone levels are critical in determining if she should compete with women.  This article was published by the Genetic Literacy Project.

Identical boy-girl twins – what?

The Genetics Journal Club for this month features the article Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning that was recently published in the New England Journal of Medicine.  The article describes boy-girl twins whose maternal DNA was identical, and who share paternal DNA as with genetic siblings.  The authors propose that sesquizygosis is a newly identified and rare third type of twinning along with monozygotic (identical) and dizygotic (fraternal) twins .   The article describes the authors’ research to identify other pairs of sesquizygotic twins, a case report regarding this set of twins who are now four years old, and theories regarding how sesquizygosis occurs.

Explore additional genetics articles by searching Himmelfarb Library‘s PubMed which provides direct links to articles in our online collections.

Image citation: Anonymous (1922).  Single ovum twins [online image] from Plass, E.D. (1922). Obstetrics for nurses.  New York: Appleton and Company.

New research published in JAMA Internal Medicine looks at the inverse relationship between coffee drinking and mortality. In this population-based study, researchers used baseline demographic data to estimate hazard ratios for coffee intake and mortality, and also looked at the potential effect of specific genes which are known to modify caffeine metabolism.

In Association of Coffee Drinking With Mortality by Genetic Variation in Caffeine Metabolism: Findings From the UK Biobank, Lotfield, Cornelis, and Caporaso seek to answer the question:

"Moderate coffee consumption has been inversely associated with mortality; however, does heavy intake, particularly among those with common genetic polymorphisms that impair caffeine metabolism, increase risk of mortality?"

To understand their research and find an interesting example of population-based genetic research, read the full article - and and enjoy your favorite caffeine beverage guilt-free while you read!

To learn more about these issues and other genetics topics, participate in the SMHS’s online Genetics Journal Club.

Image citation: Foong, C. (2012).  coffee [Online image].  Available at https://www.flickr.com/photos/cherylfoong/8249906174

Is precision public health a good idea - or even possible?

An article recently published in the New England Journal of Medicine explores the inherent tension between public health and precision medicine as public health has worked to improve the health of populations and precision medicine seeks to improve the health of individuals via their unique genome.    In “Precision” Public Health — Between Novelty and Hype, Merlin Chowkwanyun, Ronald Bayer, and Sandro Galea explore what precision medicine might mean for public health and ask:

• What does a shift toward precision medicine mean for public health?  
• Will precision public health provide an opportunity reenvision and empower public health or is it an abandonment of public health’s core aim of enhancing health at a population level?
• How will public health integrate individual genome specific data and interventions with its broader mission?   

To learn more about these issues and other genetics topics, participate in the SMHS’s online Genetics Journal Club.