Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications.

In this short review we have presented and discussed studies on pharmacogenomics (also termed pharmacogenetics) of the drugs employed in the treatment of β-thalassemia or Sickle-cell disease (SCD). This field of investigation is relevant, since it is expected to help clinicians select the appropriate drug and the correct dosage for each patient. We first discussed the search for DNA polymorphisms associated with a high expression of γ-globin genes and identified this using GWAS studies and CRISPR-based gene editing approaches.

Identification of Novel Insertions and Deletions in Haematopoietic Stem/Progenitor Cells in de novo Myelodysplastic Syndromes.

Myelodysplastic Syndromes (MDS) are . The molecular basis of MDS is heterogeneous and the molecular mechanisms underlying biology of this complex disorder are not fully understood. Genetic variations (GVs) occur in about 90% of patients with MDS.

Plant based radioprotectors as an adjunct to radiotherapy: advantages and limitations.

Radioprotectors are agents that have the potential to act against radiation damage to cells. These are equally invaluable in radiation protection, both in intentional and unintentional radiation exposure. It is however, complex to use a universal radioprotector that could be beneficial in diverse contexts such as in radiotherapy, nuclear accidents, and space travel, as each of these circumstances have unique requirements.

Comparative Analysis of the Genetic Variants in Haematopoietic Stem/Progenitor and Mesenchymal Stem Cell Compartments in de novo Myelodysplastic Syndromes.

Myelodysplastic Syndromes (MDS) are hematological clonal disorders. Bone marrow (BM) mesenchymal stem cells (MSCs) interact with the haematopoietic stem and progenitor cells (HSPCs) to regulate haematopoiesis. We studied the genetic variation profiles of BM derived CD34 HSPCs and MSCs of same patient in a South Asian de novo MDS cohort with 20 patients.

Population Screening for Hemoglobinopathies.

Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases.