The Sickle Cell Disease Portal shares rich genomic and clinical data from large cohorts of individuals with sickle cell disease. Data may be easily and securely accessed by academic investigators to foster global collaboration.

While sickle cell disease is caused by a single-gene mutation, genetic modifiers strongly influence outcomes. This initiative, led by St. Jude Children’s Research Hospital, aims to promote collaborative efforts to understand the genetic underpinnings of sickle cell disease and develop more effective treatments. Learn more about us »

Clinical Diagnosis
Genotype of SCCRIP Participants

About Participants

Our cohorts include nearly 1,400 sickle cell patients participating in research studies at St. Jude Children’s Research Hospital, Baylor College of Medicine and other collaborating institutions. Whole genome sequencing data is currently available for more than 800 patients.

A key cohort is from the Sickle Cell Clinical Research and Intervention Program (SCCRIP), a longitudinal St. Jude-led observational study that is prospectively following individuals with sickle cell disease throughout their lifetimes.

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Projects

We are using whole-genome sequencing (WGS) data coupled with longitudinal clinical follow-up to identify genetic modifiers of co-morbid outcomes for sickle cell disease. Severe pain – a common cause of hospitalization – and early kidney damage are the focus of two initial analyses. The goal is to identify high-risk patients and improve their clinical management.

Pain Study
Patients without VOC

Vaso-occlusive pain crisis (VOC) is the most common complication of sickle cell disease and correlates strongly with higher hospital visits and increased mortality. The genetics of VOC in sickle cell patients is poorly understood. We identified risk variants associated with shorter time to first pain event.

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Renal Study
Patients without kidney damage

Kidney damage in individuals with sickle cell disease begins in infancy and can progress to kidney failure, which has a high mortality rate. Urinary albumin excretion (albuminuria) is a sensitive marker of early kidney damage in individuals with sickle cell disease. We identified combinations of variants in the APOL1 gene that are correlated with developing albuminuria earlier in childhood.

Explore Renal Study data