Sickle Cell Cure Brings Mix of Anxiety and Hope
G Kolata, NY Times, January 17, 2023
Some people who have long lived with the disease say they worry about living as a healthy person, while others are concerned about the obstacles to getting treatment. Sickle cell disease affects at least 100,000 people in the United States and millions worldwide. It mostly strikes Black and Hispanic or Latino people, but it also occurs in people with Mediterranean and Indian ancestors. People with the disease face searing pain, stroke, damage to tissues and organs and often death at an early age.
Human genetic diversity alters off-target outcomes of therapeutic gene editing.
Cancellieri Samuele et al. Nature genetics 2022 12
CRISPR gene editing holds great promise to modify DNA sequences in somatic cells to treat disease. However, standard computational and biochemical methods to predict off-target potential focus on reference genomes. We developed an efficient tool called CRISPRme that considers single-nucleotide polymorphism (SNP) and indel genetic variants to nominate and prioritize off-target sites. We tested the software with a BCL11A enhancer targeting guide RNA (gRNA) showing promise in clinical trials for sickle cell disease and ß-thalassemia
Transcript for Vital Signs Telebriefing: Children with sickle cell anemia are at risk for stroke and other complications
CDC, October 2022
Today’s Vital Signs highlights the disheartening fact that many young people are not receiving potentially life-saving screenings and treatment for this disease. Sickle cell disease, sickle cell anemia, the most common form of sickle cell disease, is a leading cause of stroke in children and teens. Yet as this report points out, less than half of children two to 16 years of age who were enrolled in Medicaid in 2019 were receiving their recommended annual screening to assess their risk of having a stroke.
Africa must participate in finding a gene therapy cure for sickle-cell disease.
Moshi Grace et al. Nature medicine 2022 10
SCD is a disease of global public heath significance, has a dismal effect on the quality of life of many people, and it is a major drain on human and health resources. Scientific collaboration is needed to prioritize treatments that are cost-effective in Africa, where most cases exist. For these interventions to be implemented in Africa, several barriers must be overcome. Barriers include under-funded healthcare systems, lack of appropriate infrastructure, and lack of manufacturing practice facilities.