The sequencing of the human genome and ensuing advances in genome sequencing technologies have provided a unique opportunity to use genomic information in clinical settings. Though largely these technologies have been exploited in the research domain, to discover genetic mutations and associations with diseases, the widespread use and distinct utility has in the recent years spilled over to clinical medicine. These advances have been extensively applied for making clinical decision and management precise, and is popularly dubbed as Precision Medicine.

CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB) New Delhi has initiated a unique programme on this front, pioneering the application of genomics for Precision Medicine in clinics in India. One of the programmes we have initiated is Genomics for Understanding Rare Disease, India Alliance Network (GUaRDIAN), which is a large-scale collaborative network of clinicians from around India trying to use genomics in clinical practice, with the focussed aim to understand genetic structure of rare genetic diseases in India. The network, one of the largest of its kind, today encompasses over 50 collaborators across more than 20 clinical and research centers in India.

The consortium aims at using cutting edge genomics technology to enable identification of genetic variations in diseases and enable clinicians arrive at precise diagnosis for rare genetic disease. Apart from working closely with clinicians, the consortium aims to foster education, awareness and the widespread adoption of genomic technology in clinical settings, in addition to creating and disseminating the highest standards of genomic data generation and interpretation.

Genomics to aid in precise diagnosis of disease

See: Gupta, A et al, Journal of the European Academy of Dermatology and Venereology (2015)

Yenamandra V.K, Bhari N. Ray S.B, Sreenivas V., Dinda A.K, Scaria V, Sharma V.K, Sethuraman G

Diagnosis of Inherited Epidermolysis Bullosa in Resource-Limited Settings: Immunohistochemistry Revisited

Dermatology (2017)

Yenamandra VK, Vellarikkal SK, Kumar M, Chowdhury MR, Jayarajan R, Verma A, Scaria V, Sivasubbu S, Ray SB, Dinda AK, Kabra M, Kaur P, Sharma VK, Sethuraman G

Application of Whole Exome Sequencing in Elucidating the Phenotype and Genotype Spectrum of Junctional Epidermolysis Bullosa: A Preliminary Experience of a Tertiary Care Centre in India

J Dermatol Sci (2017) in press.

Genomics for helping parents have a healthy child

See: Gupta A, et al, F1000Research (2015)

Genomics approaches to identify novel genetic variations causing diseases in India

See: Vellarikkal SK et al, Human Genome Variation (2014)

Yenamandra VK, Vellarikkal SK, Chowdhury MR, Jayarajan R, Verma A, Scaria V, Sivasubbu S, Basu Ray S, Dinda AK, Kabra M, Sharma VK, Sethuraman G.

Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.

Acta Derm Venereol. (2018) Mar 27. doi: 10.2340/00015555-2929. [Epub ahead of print]

Yenamandra VK, Shamsudheen KV, Madhumita RC, Jayarajan R, Verma A, Scaria V, Sivasubbu S, Kabra M, Sharma VK and Sethuraman G

Autosomal recessive epidermolysis bullosa simplex: report of three cases from India

Clinical and Experimental Dermatology (2017) 42, pp791–810 doi: 10.1111/ced.13182

We invite you and your Department/Institute to be part of the ongoing collaborative effort and we look forward to collaborating with you on multiple fronts.

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