70 million Indians suffer from Genetic Diseases

Genomics offers them a new Hope

GUaRDIAN is a consortium of over 300 clinicians and researchers from over 70 medical and research centers making it one of the largest clinical genomics research networks in India

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Read more about the rare & undiagnosed diseases programme in the recent overview

Human Genomics 13:52 (2019)

Focus areas of Research and Cohorts

Our network encompasses a wide variety of clinical specialties. Our specialized cohorts and focused programmes include

Dermatology and Genodermatosis, Neurological disorders, Cardiac Diseases, Vascular Diseases, Primary Immunodeficiency, Autoinflammatory Diseases, Ophthalmological/Eye Diseases , Liver Diseases , Kidney Diseases, Metabolic Diseases, Hemoglobinopathies, Heritable Cancers and Rare Blood Groups just to name a few. We are open to include more cohorts in collaboration with clinical groups.

If you are a Clinician or Researcher, you could collaborate with the network and participate in ongoing research initiatives. Please contact us for more details

New Research Cohorts

Genomics touching Lives

Bonded by Blood

How Yusuf Ahmed received a new lease of life due to whole genome sequencing

Rekha Dixit writes about a family from Malappuram, Kerala impacted by genomic diagnosis through the programme on Primary Immunodeficiency Disorders at Government Medical College Kozhikode created in collaboration with the CSIR Institute of Genomics & Integrative Biology (CSIR-IGIB).

Read more at https://www.theweek.in/health/more/2020/10/23/bonded-by-blood.html

Events & Courses

Fortnightly Webinar Series on Genomics in Clinics. 08:00 PM on Saturday Register at https://rb.gy/n0lpwp
Genomics in Clinical Medicine is an introductory workshop as part of IRACON 2022 for clinicians, specialists and medical students. (for more details, contact iracon2022@indianrheumatology.org

Genomics in India

Learn more on Genomic applications in Clinical Medicine and Clinical Interpretation of Genomic variants at the GenomicsInIndia channel on YouTube

Research Highlights

The prevalence and genetic spectrum of cardiac channelopathies exhibit population-specific differences. In this article, the authors used the IndiGenomes dataset to explore the spectrum of cardiac channelopathy-associated variations in India, which is characterized by a genetically diverse population and is largely understudied in the context of these disorders. The results indicate that the genotype may be present in nearly 1% of the population of India, which represents a large number of people and a potential public health concern.

Hum Genomics 16, 30 (2022). https://doi.org/10.1186/s40246-022-00402-2

A founder repeat expansion mutation associated with autosomal dominant cortical tremor, myoclonus and epilepsy

Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy has been reported globally with different genetic predispositions of autosomal dominant inheritance with a high degree of penetrance. The whole-genome sequencing of patients identified a repeat expansion of TTTTA and TTTCA in SAMD12 gene which was further confirmed in 102 patients using repeat-primed PCR analysis. This is the largest and most comprehensive single report on clinically and genetically characterized Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy patients belonging to a unique ethnic group from South India.

Brain Communications, Volume 3, Issue 1, 2021, fcaa214, https://doi.org/10.1093/braincomms/fcaa214

Building on an adhoc COVID-19 Response to Enhance Community-based Care for Vulnerable Children in Kerala, India

What started as a quick solution to deliver clinical care to at-risk pediatric patients during a widespread lockdown that restricted travel — partnering with police to transport vital blood supplies — is now evolving, with patient insights through virtual focus group discussions, to take advantage of multiple community-based facilities to provide care heretofore available only at a single academic tertiary care site.

NEJM Catalyst Innovations in Care Delivery November 2020 https://catalyst.nejm.org/doi/full/10.1056/CAT.20.0543

Genomics Impacting Healthcare

1 in 100 indians carries hidden heart risk, reveals study

People with disorders may appear healthy but are susceptible to dangerous patterns of cardiac electrical activity that could cause palpitations, blackouts or even death.

The Telegraph August 07, 2022 https://www.telegraphindia.com/india/1-in-100-indians-carries-hidden-heart-risk-study/cid/1878702

Game-changing genomes

The IGIB is working towards a future where genomic testing is used for advanced disease diagnosis. It has created a prototype IndiGen card where genomic data is available to clinicians with a simple swipe of the card. Such data shows whether a person is a carrier of a particular genetic disorder and how he will respond to certain medication.

The Week November 01, 2020 https://www.theweek.in/health/more/2020/10/23/game-changing-genomes.html

The Gene Business

Technology advances in gene sequencing are creating new opportunities for enterprises in healthcare and other sectors. Indians are 17 per cent of the world's population. But only 0.2 per cent genomic data is from the Indian population. This is one area where India can lead - Joe C Mathew writes in Business Today

Business Today March 08, 2020 https://www.businesstoday.in/magazine/technology/the-gene-business/story/396400.html

Genomics for Public Health

In picture, Hon'ble Minister for Science and Technology, Government of India is seen with the IndiGenome Card.

The IndiGen programme aims to undertake whole genome sequencing of thousands of individuals representing diverse ethnic groups from India. The objective is to enable genetic epidemiology and develop public health technologies applications using population genome data.

The Council for Scientific and Industrial Research has sequenced the entire genomes of 1008 Indians in six months, under a mission that was aimed at demonstrating capability and scalability of Indian research institutions. This initiative, called IndiGen, was undertaken by two CSIR institutions — Institute of Genomics and Integrative Biology (IGIB), Delhi and Centre for Cellular and Molecular Biology (CCMB), Hyderabad.