Genetic modifiers of SCD complications
INHERENT is an international network of hemoglobinopathy focused researchers studying the genetic modifiers of thalassemia and sickle cell disease complications. Our group is a key collaborator as leaders within the clinical working group. Our primary objective is to study the role of genetic modifiers in hemoglobinopathies through a large, multi-ethnic GWAS. Secondary objectives include pooling and analyzing already existing and new genomic data to validate previously reported genetic modifiers and discover new genetic modifiers of hemoglobinpathies. We currently have one open protocol:
- INHERENT: Study of the role of genetic modifiers in hemoglobinopathies
Optimizing pain relief
Our current management of pain, which relies heavily on opioids in patients with sickle cell disease, is often ineffective and can also be debilitating. In addition to our current standard of care, other non-opioid pain treatments must be optimized. For the last three years, our team has partnered with pain experts to optimize our current pain therapies. Our major contribution is related to ketamine use in the treatment of pain in children with sickle cell disease. We are now moving our focus to investigating the safety and efficacy of innovative pain management strategies that include addressing psychosocial and health related social needs. Our current protocols include the following:
- Pain management in sickle cell disease
- A pilot study in the use of oral ketamine for treatment of vaso-occlusive pain in adolescents and young adults (actively recruiting)
- Investigating the optimal timing of ketamine initiation in children that present with sickle cell disease associated pain (pending)
- Ketamine use for hospitalized youth with sickle cell disease
Brain health
Disease-specific neurologic complications, challenges associated with having a chronic illness, and racism experienced by Black and African American children/adolescents in the United States healthcare and education systems leave children with SCD at significantly increased risk of encountering academic challenges. Our lab focuses on early identification of these challenges and standardizing approaches to mitigate them. Current protocols include:
- A standardized approach to screening for academic challenges among patients with sickle cell disease
- The effect of universal Early Intervention on school readiness in patients with sickle cell disease (pending)
- The relationship between executive function and adaptive skills in children and adolescents with sickle cell disease (recruitment on hold)
- Neuroimaging in Sickle Cell Disease: Part of the Boston consortium to cure sickle cell disease (actively recruiting)
- Is low velocity TCD associated with brain pathology in sickle cell disease
- Sustained increase in annual transcranial doppler screening rates in children with sickle cell disease
Social determinants of health/health related social needs
Several small-scale studies among patients with SCD have demonstrated an association between adverse social determinants of health (SDOH) and inferior health outcomes with subsequent calls for SDOH-targeted interventions to improve outcomes. Our team is committed to creating the infrastructure to study the effect of SDOH on patient outcomes in SCD and subsequently studying effective methods in addressing those needs that lead to improved outcomes. Current protocols include:
- Socioeconomic disparities and risk of stroke as assessed by Transcranial Doppler: A DISPLACE Study Secondary Analysis
- The effect of health-related social needs on prevention outcomes in sickle cell disease (pending)
- Improving access to curative and transformative therapies for SCD by standardizing education (actively recruiting)
- Establishing a Sociodemographic Data Banking Study in Patients with Hematologic Disorders: A feasibility Assessment (actively recruiting)
- Estimating the prevalence and distribution of sickle cell disease in the United States
Global health
It is imperative that more SCD diagnosis and management programs are developed in resource-limited settings given most patients are born in these regions. Our research group is committed to improving patient outcomes globally. Our group has partnered with multiple institutions to better understand how to sustainably establish sickle cell disease care. Current protocols include the following:
- Understanding the barriers and facilitators to global hematology-oncology work at Dana Farber/Boston Children's (actively recruiting)
- Exploring the role of vitamin D levels in development of avascular necrosis for individuals with sickle cell disease (pending)
Diversity, equity, and inclusion
Diversity, equity, and inclusion are principles that benefit organizations that choose to embrace them. Our research focuses on innovative ways to improve clinical and research culture including creating environments that are routed in justice, intellectual and cultural curiosity, all while providing trainees, staff, clinicians, and patients with a sense of belonging and understanding. Current protocols include:
- The use of simulation to improve clinical and research culture
- Success of a research award that supports URIM research assistants