Genomics of rare genetic diseases - Experiences from India

Anjali Bajaj, Samatha Mathew, Shamsudheen Karuthedath Vellarikkal, Ambily Sivadas, Rahul C. Bhoyar, Kandarp Joshi, Abhinav Jain, Anushree Mishra, Ankit Verma, Rijith Jayarajan, A. Nalini, A. Ravi Kumar, A. T. Arasar Seeralar, Aayush Gupta, Achal K. Srivastava, Aditi Joshi, Aditi Sinha, Aditya Jandial, Afreen Khan, Akhilesh K. SonakarAlex Chandy, Aman Sharma, Ambuj Roy, Amit Rawat, Amitabh Biswas, Andrew Vanlalawma, Anita Chaudhary, Anita Chopra, Ankit Panday, Ankit Sabharwal, Ankita Mitra, Ankita Narang, Anna Rajab, Anoop Kumar, Anoop Singh Gurjar, Anop Singh Ranawat, R. I. Anu, Anup Kumar Tiwary, Anuradha, Aquil Kalanad, Aradhana Mathur, Arjun Lakshman, Arushi Batra, Arvind Bagga, Ashish Aggarwal, Ashok Gupta, Ashu Rastogi, P. K. Aslam, V. Astha, Aswin Nair, E. P. Athulya, Atri Chatterjee, Atul Jindal, Atul Kumar Kashyap, B. Priyadarshini, Babu Ram Thapa, Balram Bhargava, Balram Sharma, Bani Jolly, Bharath Ram Uppilli, Bharathi Balachander, Bhim Shankar, Bibhas Kar, B. K. Binukumar, C. Lalchhandama, Chaitanya Datar, Chetana Sachidanandan, D. C. Master, Daisy Khera, Debashish Chowdhury, Debashish Danda, Deepak Kumar, Deepika Pandhi, Deepti Siddharthan, Disha Sharma, Divya Pachat, Brijesh Sharma, Durga Rao Vegulada, G. S.R.S.N.K. Naidu, G. Padma, G. Vishnu Priya, Gautam Sharma, R. Gauthamen, Geeta Govindaraj, George M. Varghese, S. Gireesh, Gopi Krishnan Unnikrishnan, S. A. Hafiz, K. R. Hazeena, Heena Dhiman, Hema Singh, Hrishikesh Sarkar, Istaq Ahmed, Jagadeesh Menon, Jatinder Goraya, Jennifer Mathew, Jineesh Thottath, Jitendra K. Sahu, Jitendra Oswal, John Menachery, Judith Mary Hariprakash, K. Bhargava, K. K. Talwar, K. M. Cherian, K. P. Aravindan, K. Pramila, K. Saroja, K. Shantaraman, Kavita Pandhare, Kiran Kumar Mandapati, P. Kiran, Kotha Rakesh, Krati Shah, C. Krishnan, Kriti Shah, Kuldeep Singh, Kuljeet Anand, Lalawmpuii Pachuau, Laxmisha Chandrashekar, Liza Rajasekhar, Lopamudra Mishra, M. V. Padma, Madhulika Kabra, Madhumita Roy Chowdhary, Malika Seth, Maneesh Rai, Manish Kumar, Manish Parakh, Manisha Goyal, Manisha Gurjar, Manisha Sahay, Mercy Rophina, Mitali Mukerji, Mohammed Ali, Mohammed Faruq, Mohandas Nair Karippoth, Mohit Kumar Divakar, M. P. Jayakrishnan, Mukesh Kumar, Mukta Poojary, Mukund A. Prabhu, Nachimuthu Senthil Kumar, Nadeem Rais, Nalini Bhaskaranand, Narendra Kumar Bagri, Naveen Sankhyan, Neeraj Awasthy, Neeraj Gupta, Neeraj Parakh, Neerja Gupta, Neetu Bhari, Neetu Kushwaha, Neha Sharma, Neha Virmani, Nilanjan Kundu, Nishad Plakkal, Nishu Tyagi, Nita Radhakrishnan, Nitish Naik, Nitish Rai, Nivedita Mondal, Nupur Bhargava, Pankaj Hari, Paras Sehgal, Piyush Kumar, Pooja Chauhan, Pooja Mailankody, Pooja Sharma, Poonam Parakh, Pragya A. Nair, Praloy Chakraborty, Prasanna Kumar Shirol, Pratibha Singh, Pratosh Gangadhar, Prawin Kumar, Purna Chandra, R. Krishnan, R. Srilakshmi, R. Sriranga Lakshmi, R. Anantharaman, Radha Mahadevan, Rahul Mahajan, Rajasubramaniam Shanmugam, Rajat Sharma, V. R. Rajendran, Rajinder K. Dhamija, Rajit Pillai Ramanan, Rajive Kumar, A. R. Rajneesh, Rajnish Juneja, Rakesh Aggarwal, Rakesh Sahay, S. Ramakrishnan, Ranjith Narayanan, Ravindra Shukla, Remya Koshy, Renu Kumari, Richa Chaudhary, Richa Jain, Riyaz Arakkal, Roopa Rajan, Rowmika Ravi, S. Baruah, S. Sitaraman, Sadandandavalli Retnaswami Chandra, Saia Chenkual, V. Sailaja, Sakshi Ambawat, Samhita Panda, Sana Zahra, Sanchit Kumar, Sandeep Arora, Sandeep Mathur, Sandeep Seth, P. Sandhya, Sangam Goswami, Sangita Paul, Sanjay Pandey, Santharaman Kalyanaraman, Saroj Patnaik, Saruchi Wadhwa, Sathi Venu, Satyan Nanda, Saumya Panda, Saurabh Chopra, Saurabh Singh, P. Savinitha, Seema Kapoor, Sesh Sivadasan, G. Sethuraman, Shaista Parveen Khan, C. V. Shaji, Shanmugam Gurusamy, Sheffali Gulati, Shrey Gandhi, Sivaprakash Ramalingam, Smita Nath, Somesh Kumar, Sona Sathian, Sonal Lakhani, Soumya S. Nair, Soumya Sundaram, Sourav Ghosh, Sree Bhushan Raju, Sreejith Valappil, Sreelata Nair, Srikanth Kadyada Puttaiah, Sruthi S. Nair, Suja K. Geevarghese, Sujata Mohanty, Sujay Khandpur, Suman Jain, Sumeet, Sumit Sharma, Suruchi Trehan, Suvasini Sharma, Sweta Jain, Swetha Jain, Tarun Kumar Badam, S. Umamaheswari, Utkarsh Gaharwar, Uzma Shamim, Vadlamudi Raghavendra Rao, Vamsi Krishna, Vandana Jain, Varun Suroliya, Varuna Vyas, Veena Vedartham, S. Venketesh, Vigneshwar Senthivel, Vijaykumar Bhavi, Vilas Jadhav, Vinay Gera, Vishal Dixit, Vishal Gupta, Vishnu Agarwal, V. Y. Vishnu, Vishu Gupta, K. V. Vysakha, Yugal K. Sharma, Samir K. Brahmachari, Sridhar Sivasubbu, Vinod Scaria

Research output: Contribution to journalReview articlepeer-review

Abstract

Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, including the widely prevalent practice of consanguinity, not only makes the Indian population distinct from rest of the world but also provides a unique advantage and niche to understand genetic diseases. Centuries of genetic isolation of population groups have amplified the founder effects, contributing to high prevalence of recessive alleles, which translates into genetic diseases, including rare genetic diseases in India. Rare genetic diseases are becoming a public health concern in India because a large population size of close to a billion people would essentially translate to a huge disease burden for even the rarest of the rare diseases. Genomics-based approaches have been demonstrated to accelerate the diagnosis of rare genetic diseases and reduce the socio-economic burden. The Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) stands for providing genomic solutions for rare diseases in India. The consortium aims to establish a unique collaborative framework in health care planning, implementation, and delivery in the specific area of rare genetic diseases. It is a nation-wide collaborative research initiative catering to rare diseases across multiple cohorts, with over 240 clinician/scientist collaborators across 70 major medical/research centers. Within the GUaRDIAN framework, clinicians refer rare disease patients, generate whole genome or exome datasets followed by computational analysis of the data for identifying the causal pathogenic variations. The outcomes of GUaRDIAN are being translated as community services through a suitable platform providing low-cost diagnostic assays in India. In addition to GUaRDIAN, several genomic investigations for diseased and healthy population are being undertaken in the country to solve the rare disease dilemma. In summary, rare diseases contribute to a significant disease burden in India. Genomics-based solutions can enable accelerated diagnosis and management of rare diseases. We discuss how a collaborative research initiative such as GUaRDIAN can provide a nation-wide framework to cater to the rare disease community of India.

Original languageEnglish
Article number1
JournalHuman Genomics
Volume14
Issue number1
DOIs
Publication statusPublished - 25-09-2019

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Drug Discovery

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