This page is dedicated to the Sickle Cell Disease research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Sickle Cell Disease research study, established at Boston Children's Hospital in 2019 and led by Drs. Carlo Brugnara and Vijay Sankaran, has enrolled over 800 patients and their families. The study aims to identify genetic causes of sickle cell disease and provide personalized medicine.

Disease information

Sickle Cell Disease is a group of genetic red blood cell disorders that affect how oxygen is carried through the body. In this Youtube video about gene therapy for sickle cell disease, Gene therapy for sickle cell disease: The journey to a new treatment, Dr. Vijay describes the discovery of a key regulator in sickle cell disease. Learn more about sickle cell disease at Boston Children's.

Genes of interest

HBB

Participate in research

Physicians may refer their patients with diagnoses of sickle cell disease to Drs. Brugnara and Sankaran. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about their research on Dr. Brugnara’s research profile and the Sankaran Lab webpage.

Patient care

Patients and their families with sickle cell disease can be seen by an expert multidisciplinary team in the Sickle Cell Disease Program at Boston Children’s.

Investigators

Divisions

Notable publications by investigators

  1. Heritability of fetal hemoglobin, white cell count, and other clinical traits from a sickle cell disease family cohort
  2. Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis
  3. Variation and impact of polygenic hematologic traits in monogenic sickle cell disease

Trusted sites

NORD Report