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2023年8月25日 · Sickle cell disease (SCD) is a monogenic blood disease caused by a point mutation in the gene coding for β-globin. The abnormal hemoglobin [sickle hemoglobin (HbS)] polymerizes under low-oxygen conditions and causes red blood cells to sickle. The clinical presentation varies from very severe (with a …

2024年8月29日 · To investigate genetic variants associated with various clinical phenotypes of SCD, we genotyped DNA samples from 520 SCD subjects and used a genome-wide association study (GWAS) approach to...

Sickle cell disease (SCD) is the most-common monogenic recessive disease in humans, annually affecting almost 300,000 newborns worldwide, 75% of whom live in Africa. Genomics research can accelerate the development of curative therapies for SCD in ...

2020年5月26日 · Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. …

Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder.

CRISPR/Cas9 technology for SCD gene therapy Genome editing is a new treatment option that offers promising outcomes in managing SCD. Genome editing involves DNA modification by inserting, deleting, or replacing DNA fragments at the target sites to acquire specific genetic traits, inactivate target genes, and correct pathogenic gene mutations.

2023年2月1日 · Sickle cell disease (SCD) is the most-common monogenic recessive disease in humans, annually affecting almost 300,000 newborns worldwide, 75% of whom live in Africa. Genomics research can accelerate the development of curative therapies for SCD in three ways.

2023年5月19日 · Therapeutic genome editing of haematopoietic stem cells (HSCs) may permanently remedy sickle cell disease (SCD) and other severe blood disorders. SCD is an autosomal recessive genetic disorder...

2023年7月20日 · In this paper, we review the pathogenesis and therapeutic approaches of SCD, briefly summarize the delivery strategies of CRISPR/Cas9, and finally discuss in depth the current status, application barriers, and solution directions of CRISPR/Cas9 in SCD.