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By Jeremie Estepp, MD

A few decades ago, about half of all people with sickle cell disease didn’t live beyond 20 years old — and many who did, ultimately died before turning 50. Sickle cell disease has been studied at St. Jude since the hospital opened in 1962. And today, thanks to improvements in treatment, sickle cell patients are living better and living longer. But there is still a long way to go and many questions — some questions we won’t know until we find more answers. Sharing our data — all of it — is one way to accelerate the research and uncover more answers.

Transitioning sickle cell care
We treat about 900 to 1,000 patients every year at St. Jude. We are a full-service clinic and provide comprehensive sickle cell care from birth to 18 years of age. We also help our teenage patients transition to adult care early on. Working with Methodist Hospital, we’ve developed a transition plan to help our patients manage their care and advocate for themselves in the adult healthcare system.

One of the unique things about our work at St. Jude is we’re able to support Jerlym Porter, PhD, in the Department of Psychology. She specializes in quality of life and wellness issues for sickle cell patients here, as well as those transitioning to an adult hospital. She focuses on everything around the patient outside the clinic, including pain management, adherence to medication and treatment. All of it ties into something unprecedented.

Whole genome sequencing
St. Jude began the Sickle Cell Clinical Research and Intervention Program in 2014 to better understand the long-term effects of the disease and its treatments. The goal is to help scientists design new sickle cell disease therapies. This study, in partnership with Baylor University, provided us with comprehensive clinical and laboratory information, as well as laid the groundwork for us provide whole genome sequencing data for more than 800 patients.

The goal of the effort was to find the genes that modify disease severity, and that collaboration has been successful. In fact, we’re reporting new associations with pain phenotype and early kidney damage this month at the annual meeting of the American Society of Hematology (ASH). The research community has access to this data through the Sickle Cell Data Portal in St. Jude Cloud.

What will this look like in the future?

We know there are others out there with expertise or a perspective we don’t have, and we want them to have access to our raw genomic data. Collectively we can do things much faster than working in academic silos.

To my knowledge, this is the first of its kind — and we hope the first steps toward accelerating discovery and improving care for individuals with sickle cell disease.


Learn more about St. Jude’s work on sickle cell disease.