1. Establishment of CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB)

As the Founder Director of CSIR-IGIB, Prof. Brahmachari transformed the Institute into a leading centre for genomics research, integrating genomics with informatics to facilitate advancements in genomic diagnostics.

2. Promotion of Functional Genomics

He pioneered functional genomics in India, focusing on understanding gene functions and interactions, which are crucial for developing precise diagnostic tools.

 3. Advocacy for Personalized Medicine

Prof. Brahmachari emphasized the importance of personalized therapeutics based on individual genetic variations, aligning with traditional practices like Ayurveda to enhance treatment efficacy.

 4. Development of Genomic Diagnostic Tools

He contributed to the development of genomic diagnostic assays aimed at identifying genetic variations associated with diseases, facilitating early and accurate diagnosis.

 5. Mentorship and Capacity Building

Through his leadership roles, Prof. Brahmachari mentored numerous scientists and promoted education in genomics, thereby building capacity for genomic diagnostics research in India.

Prof. Brahmachari’s visionary efforts have significantly advanced the field of genomic diagnostics in India, paving the way for personalized and precise healthcare solutions.

Prof. Samir K. Brahmachari has made significant contributions to the development of genomic diagnostics for Thalassemia and Ataxias, particularly within the Indian population. His work has been pivotal in enhancing the understanding, diagnosis, and management of these genetic disorders.

Contributions to Thalassemia Genomic Diagnostics

1. Research on Locus Control Region (LCR) Polymorphisms

Prof. Brahmachari co-authored a study investigating the LCR of the β-globin gene cluster in β-thalassemia patients lacking mutations in the β-globin genes. The research identified a significant association between a specific SNP (A→G) in the HS4 region of the LCR and the occurrence of β-thalassemia, suggesting that regulatory region polymorphisms can influence disease manifestation.

2. Analysis of β-Globin Gene Cluster Haplotypes.

Further studies led by Prof. Brahmachari, analyzed sequence haplotypes in the β-globin gene cluster to define the chromosomal backgrounds of thalassemia mutations. This work provided insights into the genetic diversity and mutation origin within the Indian population, aiding in the development of targeted diagnostic strategies.

3. During mid1990s even a simple DNA test for beta thalassemia was not available in India and samples had to travel to UK for sequencing and analysis. In collaboration with Dr Geeta Talukdar RKM Hospital, Calcutta DNA Diagnostic Panel for 5 most prevalent mutations in India was developed through DNA sequencing at MBU, IISc by Dr Brahmachari. These diagnostic panel was commercialized by M/s Bangalore Genie, Bangalore in 1996 as the first commercialization of genomics knowledge in India.

Contributions to Ataxia Genomic Diagnostics

1. Development of Clinicogenetic Diagnostic Algorithms

In a collaborative effort spanning over two decades, Prof. Brahmachari contributed to the development of a clinicogenetic algorithm for cost-effective screening of cerebellar ataxias. This approach integrated clinical and genetic analyses of numerous families across diverse Indian populations, facilitating accurate and timely diagnoses.

2. A landmark achievement was deciphering the etiology of cerebellar ataxias, from molecular mechanism of triplet repeat expansion to the development of panels of genetic tests (NeuroPro Dr Lal’s Path lab). This was a two decades long journey comprising three generation of scientists from Mitali Mukherjee to Mohamed Faruq and clinicians Satish Jain to Achal Srivastava from AIIMS Delhi.

Through these contributions, Prof. Brahmachari has significantly advanced the field of genomic diagnostics for Thalassemia and Ataxias, particularly in the context of the Indian population. His work has led to improved diagnostic accuracy, better understanding of genetic variations, and the development of cost-effective screening methods, ultimately enhancing patient care and management.