Goal 2: Reduce Human Disease

Identifying Epistatic Genes in Sickle Cell Disease

What genes are involved in the modulation of phenotype in sickle cell disease?

Tags (Keywords associated with the idea)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Compelling Question (CQ)

Details on the impact of addressing this CQ or CC :

The pathophysiology of sickle cell disease results from cellular defects caused directly by the Hb S mutation interacting with the environment and many other gene products—some known, but most yet unidentified–a typical example of epistasis. How normal tissue perfusion is interrupted is complex and why the phenotype of sickle cell disease differs from patient to patient is poorly understood. Answers to this question will provide additional insight into their biological and functional relationships.

Feasibility and challenges of addressing this CQ or CC :

Scientific advances make it feasible to identify additional epistatic genes, which will provide additional insight into their biological and functional relationships.

Name of idea submitter and other team members who worked on this idea : The Sickle Cell Association of New Jersey

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Idea No. 1068