Log in with your email address username.

×

Attention doctorportal newsletter subscribers,

After December 2018, we will be moving elements from the doctorportal newsletter to MJA InSight newsletter and rebranding it to Insight+. If you’d like to continue to receive a newsletter covering the latest on research and perspectives in the medical industry, please subscribe to the Insight+ newsletter here.

As of January 2019, we will no longer be sending out the doctorportal email newsletter. The final issue of this newsletter will be distributed on 13 December 2018. Articles from this issue will be available to view online until 31 December 2018.

[Comment] Sickle cell disease: tipping the balance of genomic research to catalyse discoveries in Africa

The completion of the Human Genome Project and the use of CRISPR/Cas9 for gene editing have begun to transform the diagnosis and management of disease. Sickle cell disease has been considered a perfect model for genomic research because it is a monogenic disease that is common and causes substantial morbidity and mortality but has no cure. The recent use of gene editing to modify disease severity1 and a case report of a patient with sickle cell disease who received successful treatment with gene therapy2 highlight the potential for translating genome-based knowledge into health benefits.

email