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Multi-Omics investigation for Phenotype variability of Thalassemia patient:

 

  1. Ex Vivo maturation of RBC from PBMC from Thalassemia/carrier subject for drug development culture system: The clinical severity of Thalassemia hinges on the extent of ineffective erythropoiesis, caused by the delayed maturation of erythroblasts. Research reveals that the bone marrow of beta thalassemia patients harbors 5-6 times more erythroid precursors than that of healthy individuals, with accelerated apoptosis and impaired maturation. In an exhilarating breakthrough, the team has pioneered the ex vivo maturation of RBCs from PBMCs, enriched with HSCs. Now, they are screening various compounds to enhance RBC maturation from PBMCs collected from Thalassemia patients, aiming to identify promising drug candidates for Thalassemia treatment. This cutting-edge project leverages autogenic stem cell development to discover new pharmacologic compounds, marking a bold step forward in the quest for a Thalassemia cure.

  2. Multi-omics Investigation Thalassemia clinical heterogeneity: This area of research delves into the intriguing phenotypic differences among Thalassemia patients who share identical compound heterozygous mutations in the HBB gene, comparing those with severe and non-severe profiles. By analyzing the transcriptome and validating findings through the proteome of red blood cells (RBCs), this study is crucial in uncovering key dysregulated molecular pathways in the RBCs of Thalassemia patients. The insights gained offer exciting new targets for drug development, paving the way for innovative treatments and improved patient outcomes.

  3. Development of genetic diagnostic algorithm Indian population and searching of modifier loci: [A multicentric project on Thalassemia genomics, funded by DBT , Govt of India, participated by PGIMER, Chandigarh, Institute of Child Health (ICH), Kolkata, Burdwan Medical College and Burdwan University]. A comprehensive Thalassemia diagnosis solution has been developed involving both SNVs and CNVs of HBB gene cluster and HB alpha genes and also modifier genes. An NGS based target panel has been development of genetic diagnostic algorithm for Indian population and searching of modifier loci, through Whole Exome Sequence (WES) and Targeted sequence of the HBB gene cluster.

  4. Development of field-based thalassemia carrier screening kit and protype ready for Technology transfer to Industry: This is user-friendly ready-to-use field based haemoglobinopathy/Thalassemia carrier screening kit. Result can be understood by visual observation or Mobile App. [This was funded by DBT -BIRAC, Govt of India. and Indian Patent has been submitted: [Filing dated: 18/08/20; Published at The Patent Office Journal No. 08/2022 Dated 25/02/2022; page no. 11743].

  5. HbF inducing Drug repurposing for  Thalassemia treatment : Recently, group has  showed that HbE/β thalassemia with   γGglobin-158 C/T [HBG2 c.-211 C>T ; NC_ 000011.9: ] polymorphism may be treated  with  hydroxy urea and can lower the need of  blood transfusion (Published 2021,).

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NUCLEOTIDE DATABASE ENTRY:
 

  1. Discovering novel hemoglobin variant  “Hb Midnapore” at Exon -2 of Human Beta Globin gene, accepted in HbVar Database (HbVar ID 2981).
     

  2. Discovering uncommon mutation IVS I-129 (A>C) for Thalassemia Major accepted in HbVar Database (HbVar ID 2946).
     

  3. Discovering silent mutation beta -176(C>T) for HBB gene   accepted in HbVar Database (HbVar ID 2962).

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