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Precision Medicine Dermatology

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. You could find more information on the consortium at URL and the referral process at

The network, one of the largest of its kind, today encompasses over 80 collaborators across  more than 20 clinical and research centers in India.

We have over the last few months, been able to provide proof of principles for the application of Genomics for Precision Medicine in Dermatology, some of which are listed below.

Genomics to aid in precise diagnosis of disease
See: Gupta, A et al, Journal of the European Academy of Dermatology and Venereology (2015)

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)

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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