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. Sonakar & 263 others Alex 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 article

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

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Inborn Genetic Diseases
Rare Diseases
Genomics
India
Population
Founder Effect
Exome
Consanguinity
Health Planning
Social Welfare

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Drug Discovery

Cite this

Bajaj, A., Mathew, S., Vellarikkal, S. K., Sivadas, A., Bhoyar, R. C., Joshi, K., ... Scaria, V. (2019). Genomics of rare genetic diseases - Experiences from India. Human Genomics, 14(1), [1]. https://doi.org/10.1186/s40246-019-0215-5
Bajaj, Anjali ; Mathew, Samatha ; Vellarikkal, Shamsudheen Karuthedath ; Sivadas, Ambily ; Bhoyar, Rahul C. ; Joshi, Kandarp ; Jain, Abhinav ; Mishra, Anushree ; Verma, Ankit ; Jayarajan, Rijith ; Nalini, A. ; Ravi Kumar, A. ; Arasar Seeralar, A. T. ; Gupta, Aayush ; Srivastava, Achal K. ; Joshi, Aditi ; Sinha, Aditi ; Jandial, Aditya ; Khan, Afreen ; Sonakar, Akhilesh K. ; Chandy, Alex ; Sharma, Aman ; Roy, Ambuj ; Rawat, Amit ; Biswas, Amitabh ; Vanlalawma, Andrew ; Chaudhary, Anita ; Chopra, Anita ; Panday, Ankit ; Sabharwal, Ankit ; Mitra, Ankita ; Narang, Ankita ; Rajab, Anna ; Kumar, Anoop ; Gurjar, Anoop Singh ; Ranawat, Anop Singh ; Anu, R. I. ; Tiwary, Anup Kumar ; Anuradha ; Kalanad, Aquil ; Mathur, Aradhana ; Lakshman, Arjun ; Batra, Arushi ; Bagga, Arvind ; Aggarwal, Ashish ; Gupta, Ashok ; Rastogi, Ashu ; Aslam, P. K. ; Astha, V. ; Nair, Aswin ; Athulya, E. P. ; Chatterjee, Atri ; Jindal, Atul ; Kashyap, Atul Kumar ; Priyadarshini, B. ; Thapa, Babu Ram ; Bhargava, Balram ; Sharma, Balram ; Jolly, Bani ; Uppilli, Bharath Ram ; Balachander, Bharathi ; Shankar, Bhim ; Kar, Bibhas ; Binukumar, B. K. ; Lalchhandama, C. ; Datar, Chaitanya ; Sachidanandan, Chetana ; Master, D. C. ; Khera, Daisy ; Chowdhury, Debashish ; Danda, Debashish ; Kumar, Deepak ; Pandhi, Deepika ; Siddharthan, Deepti ; Sharma, Disha ; Pachat, Divya ; Sharma, Brijesh ; Vegulada, Durga Rao ; Naidu, G. S.R.S.N.K. ; Padma, G. ; Vishnu Priya, G. ; Sharma, Gautam ; Gauthamen, R. ; Govindaraj, Geeta ; Varghese, George M. ; Gireesh, S. ; Unnikrishnan, Gopi Krishnan ; Hafiz, S. A. ; Hazeena, K. R. ; Dhiman, Heena ; Singh, Hema ; Sarkar, Hrishikesh ; Ahmed, Istaq ; Menon, Jagadeesh ; Goraya, Jatinder ; Mathew, Jennifer ; Thottath, Jineesh ; Sahu, Jitendra K. ; Oswal, Jitendra ; Menachery, John ; Hariprakash, Judith Mary ; Bhargava, K. ; Talwar, K. K. ; Cherian, K. M. ; Aravindan, K. P. ; Pramila, K. ; Saroja, K. ; Shantaraman, K. ; Pandhare, Kavita ; Mandapati, Kiran Kumar ; Kiran, P. ; Rakesh, Kotha ; Shah, Krati ; Krishnan, C. ; Shah, Kriti ; Singh, Kuldeep ; Anand, Kuljeet ; Pachuau, Lalawmpuii ; Chandrashekar, Laxmisha ; Rajasekhar, Liza ; Mishra, Lopamudra ; Padma, M. V. ; Kabra, Madhulika ; Chowdhary, Madhumita Roy ; Seth, Malika ; Rai, Maneesh ; Kumar, Manish ; Parakh, Manish ; Goyal, Manisha ; Gurjar, Manisha ; Sahay, Manisha ; Rophina, Mercy ; Mukerji, Mitali ; Ali, Mohammed ; Faruq, Mohammed ; Karippoth, Mohandas Nair ; Divakar, Mohit Kumar ; Jayakrishnan, M. P. ; Kumar, Mukesh ; Poojary, Mukta ; Prabhu, Mukund A. ; Kumar, Nachimuthu Senthil ; Rais, Nadeem ; Bhaskaranand, Nalini ; Bagri, Narendra Kumar ; Sankhyan, Naveen ; Awasthy, Neeraj ; Gupta, Neeraj ; Parakh, Neeraj ; Gupta, Neerja ; Bhari, Neetu ; Kushwaha, Neetu ; Sharma, Neha ; Virmani, Neha ; Kundu, Nilanjan ; Plakkal, Nishad ; Tyagi, Nishu ; Radhakrishnan, Nita ; Naik, Nitish ; Rai, Nitish ; Mondal, Nivedita ; Bhargava, Nupur ; Hari, Pankaj ; Sehgal, Paras ; Kumar, Piyush ; Chauhan, Pooja ; Mailankody, Pooja ; Sharma, Pooja ; Parakh, Poonam ; Nair, Pragya A. ; Chakraborty, Praloy ; Shirol, Prasanna Kumar ; Singh, Pratibha ; Gangadhar, Pratosh ; Kumar, Prawin ; Chandra, Purna ; Krishnan, R. ; Srilakshmi, R. ; Lakshmi, R. Sriranga ; Anantharaman, R. ; Mahadevan, Radha ; Mahajan, Rahul ; Shanmugam, Rajasubramaniam ; Sharma, Rajat ; Rajendran, V. R. ; Dhamija, Rajinder K. ; Ramanan, Rajit Pillai ; Kumar, Rajive ; Rajneesh, A. R. ; Juneja, Rajnish ; Aggarwal, Rakesh ; Sahay, Rakesh ; Ramakrishnan, S. ; Narayanan, Ranjith ; Shukla, Ravindra ; Koshy, Remya ; Kumari, Renu ; Chaudhary, Richa ; Jain, Richa ; Arakkal, Riyaz ; Rajan, Roopa ; Ravi, Rowmika ; Baruah, S. ; Sitaraman, S. ; Chandra, Sadandandavalli Retnaswami ; Chenkual, Saia ; Sailaja, V. ; Ambawat, Sakshi ; Panda, Samhita ; Zahra, Sana ; Kumar, Sanchit ; Arora, Sandeep ; Mathur, Sandeep ; Seth, Sandeep ; Sandhya, P. ; Goswami, Sangam ; Paul, Sangita ; Pandey, Sanjay ; Kalyanaraman, Santharaman ; Patnaik, Saroj ; Wadhwa, Saruchi ; Venu, Sathi ; Nanda, Satyan ; Panda, Saumya ; Chopra, Saurabh ; Singh, Saurabh ; Savinitha, P. ; Kapoor, Seema ; Sivadasan, Sesh ; Sethuraman, G. ; Khan, Shaista Parveen ; Shaji, C. V. ; Gurusamy, Shanmugam ; Gulati, Sheffali ; Gandhi, Shrey ; Ramalingam, Sivaprakash ; Nath, Smita ; Kumar, Somesh ; Sathian, Sona ; Lakhani, Sonal ; Nair, Soumya S. ; Sundaram, Soumya ; Ghosh, Sourav ; Raju, Sree Bhushan ; Valappil, Sreejith ; Nair, Sreelata ; Puttaiah, Srikanth Kadyada ; Nair, Sruthi S. ; Geevarghese, Suja K. ; Mohanty, Sujata ; Khandpur, Sujay ; Jain, Suman ; Sumeet ; Sharma, Sumit ; Trehan, Suruchi ; Sharma, Suvasini ; Jain, Sweta ; Jain, Swetha ; Badam, Tarun Kumar ; Umamaheswari, S. ; Gaharwar, Utkarsh ; Shamim, Uzma ; Rao, Vadlamudi Raghavendra ; Krishna, Vamsi ; Jain, Vandana ; Suroliya, Varun ; Vyas, Varuna ; Vedartham, Veena ; Venketesh, S. ; Senthivel, Vigneshwar ; Bhavi, Vijaykumar ; Jadhav, Vilas ; Gera, Vinay ; Dixit, Vishal ; Gupta, Vishal ; Agarwal, Vishnu ; Vishnu, V. Y. ; Gupta, Vishu ; Vysakha, K. V. ; Sharma, Yugal K. ; Brahmachari, Samir K. ; Sivasubbu, Sridhar ; Scaria, Vinod. / Genomics of rare genetic diseases - Experiences from India. In: Human Genomics. 2019 ; Vol. 14, No. 1.
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title = "Genomics of rare genetic diseases - Experiences from India",
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.",
author = "Anjali Bajaj and Samatha Mathew and Vellarikkal, {Shamsudheen Karuthedath} and Ambily Sivadas and Bhoyar, {Rahul C.} and Kandarp Joshi and Abhinav Jain and Anushree Mishra and Ankit Verma and Rijith Jayarajan and A. Nalini and {Ravi Kumar}, A. and {Arasar Seeralar}, {A. T.} and Aayush Gupta and Srivastava, {Achal K.} and Aditi Joshi and Aditi Sinha and Aditya Jandial and Afreen Khan and Sonakar, {Akhilesh K.} and Alex Chandy and Aman Sharma and Ambuj Roy and Amit Rawat and Amitabh Biswas and Andrew Vanlalawma and Anita Chaudhary and Anita Chopra and Ankit Panday and Ankit Sabharwal and Ankita Mitra and Ankita Narang and Anna Rajab and Anoop Kumar and Gurjar, {Anoop Singh} and Ranawat, {Anop Singh} and Anu, {R. I.} and Tiwary, {Anup Kumar} and Anuradha and Aquil Kalanad and Aradhana Mathur and Arjun Lakshman and Arushi Batra and Arvind Bagga and Ashish Aggarwal and Ashok Gupta and Ashu Rastogi and Aslam, {P. K.} and V. Astha and Aswin Nair and Athulya, {E. P.} and Atri Chatterjee and Atul Jindal and Kashyap, {Atul Kumar} and B. Priyadarshini and Thapa, {Babu Ram} and Balram Bhargava and Balram Sharma and Bani Jolly and Uppilli, {Bharath Ram} and Bharathi Balachander and Bhim Shankar and Bibhas Kar and Binukumar, {B. K.} and C. Lalchhandama and Chaitanya Datar and Chetana Sachidanandan and Master, {D. C.} and Daisy Khera and Debashish Chowdhury and Debashish Danda and Deepak Kumar and Deepika Pandhi and Deepti Siddharthan and Disha Sharma and Divya Pachat and Brijesh Sharma and Vegulada, {Durga Rao} and Naidu, {G. S.R.S.N.K.} and G. Padma and {Vishnu Priya}, G. and Gautam Sharma and R. Gauthamen and Geeta Govindaraj and Varghese, {George M.} and S. Gireesh and Unnikrishnan, {Gopi Krishnan} and Hafiz, {S. A.} and Hazeena, {K. R.} and Heena Dhiman and Hema Singh and Hrishikesh Sarkar and Istaq Ahmed and Jagadeesh Menon and Jatinder Goraya and Jennifer Mathew and Jineesh Thottath and Sahu, {Jitendra K.} and Jitendra Oswal and John Menachery and Hariprakash, {Judith Mary} and K. Bhargava and Talwar, {K. K.} and Cherian, {K. M.} and Aravindan, {K. P.} and K. Pramila and K. Saroja and K. Shantaraman and Kavita Pandhare and Mandapati, {Kiran Kumar} and P. Kiran and Kotha Rakesh and Krati Shah and C. Krishnan and Kriti Shah and Kuldeep Singh and Kuljeet Anand and Lalawmpuii Pachuau and Laxmisha Chandrashekar and Liza Rajasekhar and Lopamudra Mishra and Padma, {M. V.} and Madhulika Kabra and Chowdhary, {Madhumita Roy} and Malika Seth and Maneesh Rai and Manish Kumar and Manish Parakh and Manisha Goyal and Manisha Gurjar and Manisha Sahay and Mercy Rophina and Mitali Mukerji and Mohammed Ali and Mohammed Faruq and Karippoth, {Mohandas Nair} and Divakar, {Mohit Kumar} and Jayakrishnan, {M. P.} and Mukesh Kumar and Mukta Poojary and Prabhu, {Mukund A.} and Kumar, {Nachimuthu Senthil} and Nadeem Rais and Nalini Bhaskaranand and Bagri, {Narendra Kumar} and Naveen Sankhyan and Neeraj Awasthy and Neeraj Gupta and Neeraj Parakh and Neerja Gupta and Neetu Bhari and Neetu Kushwaha and Neha Sharma and Neha Virmani and Nilanjan Kundu and Nishad Plakkal and Nishu Tyagi and Nita Radhakrishnan and Nitish Naik and Nitish Rai and Nivedita Mondal and Nupur Bhargava and Pankaj Hari and Paras Sehgal and Piyush Kumar and Pooja Chauhan and Pooja Mailankody and Pooja Sharma and Poonam Parakh and Nair, {Pragya A.} and Praloy Chakraborty and Shirol, {Prasanna Kumar} and Pratibha Singh and Pratosh Gangadhar and Prawin Kumar and Purna Chandra and R. Krishnan and R. Srilakshmi and Lakshmi, {R. Sriranga} and R. Anantharaman and Radha Mahadevan and Rahul Mahajan and Rajasubramaniam Shanmugam and Rajat Sharma and Rajendran, {V. R.} and Dhamija, {Rajinder K.} and Ramanan, {Rajit Pillai} and Rajive Kumar and Rajneesh, {A. R.} and Rajnish Juneja and Rakesh Aggarwal and Rakesh Sahay and S. Ramakrishnan and Ranjith Narayanan and Ravindra Shukla and Remya Koshy and Renu Kumari and Richa Chaudhary and Richa Jain and Riyaz Arakkal and Roopa Rajan and Rowmika Ravi and S. Baruah and S. Sitaraman and Chandra, {Sadandandavalli Retnaswami} and Saia Chenkual and V. Sailaja and Sakshi Ambawat and Samhita Panda and Sana Zahra and Sanchit Kumar and Sandeep Arora and Sandeep Mathur and Sandeep Seth and P. Sandhya and Sangam Goswami and Sangita Paul and Sanjay Pandey and Santharaman Kalyanaraman and Saroj Patnaik and Saruchi Wadhwa and Sathi Venu and Satyan Nanda and Saumya Panda and Saurabh Chopra and Saurabh Singh and P. Savinitha and Seema Kapoor and Sesh Sivadasan and G. Sethuraman and Khan, {Shaista Parveen} and Shaji, {C. V.} and Shanmugam Gurusamy and Sheffali Gulati and Shrey Gandhi and Sivaprakash Ramalingam and Smita Nath and Somesh Kumar and Sona Sathian and Sonal Lakhani and Nair, {Soumya S.} and Soumya Sundaram and Sourav Ghosh and Raju, {Sree Bhushan} and Sreejith Valappil and Sreelata Nair and Puttaiah, {Srikanth Kadyada} and Nair, {Sruthi S.} and Geevarghese, {Suja K.} and Sujata Mohanty and Sujay Khandpur and Suman Jain and Sumeet and Sumit Sharma and Suruchi Trehan and Suvasini Sharma and Sweta Jain and Swetha Jain and Badam, {Tarun Kumar} and S. Umamaheswari and Utkarsh Gaharwar and Uzma Shamim and Rao, {Vadlamudi Raghavendra} and Vamsi Krishna and Vandana Jain and Varun Suroliya and Varuna Vyas and Veena Vedartham and S. Venketesh and Vigneshwar Senthivel and Vijaykumar Bhavi and Vilas Jadhav and Vinay Gera and Vishal Dixit and Vishal Gupta and Vishnu Agarwal and Vishnu, {V. Y.} and Vishu Gupta and Vysakha, {K. V.} and Sharma, {Yugal K.} and Brahmachari, {Samir K.} and Sridhar Sivasubbu and Vinod Scaria",
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month = "9",
day = "25",
doi = "10.1186/s40246-019-0215-5",
language = "English",
volume = "14",
journal = "Human Genomics",
issn = "1473-9542",
publisher = "Henry Stewart Publications",
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Bajaj, A, Mathew, S, Vellarikkal, SK, Sivadas, A, Bhoyar, RC, Joshi, K, Jain, A, Mishra, A, Verma, A, Jayarajan, R, Nalini, A, Ravi Kumar, A, Arasar Seeralar, AT, Gupta, A, Srivastava, AK, Joshi, A, Sinha, A, Jandial, A, Khan, A, Sonakar, AK, Chandy, A, Sharma, A, Roy, A, Rawat, A, Biswas, A, Vanlalawma, A, Chaudhary, A, Chopra, A, Panday, A, Sabharwal, A, Mitra, A, Narang, A, Rajab, A, Kumar, A, Gurjar, AS, Ranawat, AS, Anu, RI, Tiwary, AK, Anuradha, Kalanad, A, Mathur, A, Lakshman, A, Batra, A, Bagga, A, Aggarwal, A, Gupta, A, Rastogi, A, Aslam, PK, Astha, V, Nair, A, Athulya, EP, Chatterjee, A, Jindal, A, Kashyap, AK, Priyadarshini, B, Thapa, BR, Bhargava, B, Sharma, B, Jolly, B, Uppilli, BR, Balachander, B, Shankar, B, Kar, B, Binukumar, BK, Lalchhandama, C, Datar, C, Sachidanandan, C, Master, DC, Khera, D, Chowdhury, D, Danda, D, Kumar, D, Pandhi, D, Siddharthan, D, Sharma, D, Pachat, D, Sharma, B, Vegulada, DR, Naidu, GSRSNK, Padma, G, Vishnu Priya, G, Sharma, G, Gauthamen, R, Govindaraj, G, Varghese, GM, Gireesh, S, Unnikrishnan, GK, Hafiz, SA, Hazeena, KR, Dhiman, H, Singh, H, Sarkar, H, Ahmed, I, Menon, J, Goraya, J, Mathew, J, Thottath, J, Sahu, JK, Oswal, J, Menachery, J, Hariprakash, JM, Bhargava, K, Talwar, KK, Cherian, KM, Aravindan, KP, Pramila, K, Saroja, K, Shantaraman, K, Pandhare, K, Mandapati, KK, Kiran, P, Rakesh, K, Shah, K, Krishnan, C, Shah, K, Singh, K, Anand, K, Pachuau, L, Chandrashekar, L, Rajasekhar, L, Mishra, L, Padma, MV, Kabra, M, Chowdhary, MR, Seth, M, Rai, M, Kumar, M, Parakh, M, Goyal, M, Gurjar, M, Sahay, M, Rophina, M, Mukerji, M, Ali, M, Faruq, M, Karippoth, MN, Divakar, MK, Jayakrishnan, MP, Kumar, M, Poojary, M, Prabhu, MA, Kumar, NS, Rais, N, Bhaskaranand, N, Bagri, NK, Sankhyan, N, Awasthy, N, Gupta, N, Parakh, N, Gupta, N, Bhari, N, Kushwaha, N, Sharma, N, Virmani, N, Kundu, N, Plakkal, N, Tyagi, N, Radhakrishnan, N, Naik, N, Rai, N, Mondal, N, Bhargava, N, Hari, P, Sehgal, P, Kumar, P, Chauhan, P, Mailankody, P, Sharma, P, Parakh, P, Nair, PA, Chakraborty, P, Shirol, PK, Singh, P, Gangadhar, P, Kumar, P, Chandra, P, Krishnan, R, Srilakshmi, R, Lakshmi, RS, Anantharaman, R, Mahadevan, R, Mahajan, R, Shanmugam, R, Sharma, R, Rajendran, VR, Dhamija, RK, Ramanan, RP, Kumar, R, Rajneesh, AR, Juneja, R, Aggarwal, R, Sahay, R, Ramakrishnan, S, Narayanan, R, Shukla, R, Koshy, R, Kumari, R, Chaudhary, R, Jain, R, Arakkal, R, Rajan, R, Ravi, R, Baruah, S, Sitaraman, S, Chandra, SR, Chenkual, S, Sailaja, V, Ambawat, S, Panda, S, Zahra, S, Kumar, S, Arora, S, Mathur, S, Seth, S, Sandhya, P, Goswami, S, Paul, S, Pandey, S, Kalyanaraman, S, Patnaik, S, Wadhwa, S, Venu, S, Nanda, S, Panda, S, Chopra, S, Singh, S, Savinitha, P, Kapoor, S, Sivadasan, S, Sethuraman, G, Khan, SP, Shaji, CV, Gurusamy, S, Gulati, S, Gandhi, S, Ramalingam, S, Nath, S, Kumar, S, Sathian, S, Lakhani, S, Nair, SS, Sundaram, S, Ghosh, S, Raju, SB, Valappil, S, Nair, S, Puttaiah, SK, Nair, SS, Geevarghese, SK, Mohanty, S, Khandpur, S, Jain, S, Sumeet, Sharma, S, Trehan, S, Sharma, S, Jain, S, Jain, S, Badam, TK, Umamaheswari, S, Gaharwar, U, Shamim, U, Rao, VR, Krishna, V, Jain, V, Suroliya, V, Vyas, V, Vedartham, V, Venketesh, S, Senthivel, V, Bhavi, V, Jadhav, V, Gera, V, Dixit, V, Gupta, V, Agarwal, V, Vishnu, VY, Gupta, V, Vysakha, KV, Sharma, YK, Brahmachari, SK, Sivasubbu, S & Scaria, V 2019, 'Genomics of rare genetic diseases - Experiences from India', Human Genomics, vol. 14, no. 1, 1. https://doi.org/10.1186/s40246-019-0215-5

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

In: Human Genomics, Vol. 14, No. 1, 1, 25.09.2019.

Research output: Contribution to journalReview article

TY - JOUR

T1 - Genomics of rare genetic diseases - Experiences from India

AU - Bajaj, Anjali

AU - Mathew, Samatha

AU - Vellarikkal, Shamsudheen Karuthedath

AU - Sivadas, Ambily

AU - Bhoyar, Rahul C.

AU - Joshi, Kandarp

AU - Jain, Abhinav

AU - Mishra, Anushree

AU - Verma, Ankit

AU - Jayarajan, Rijith

AU - Nalini, A.

AU - Ravi Kumar, A.

AU - Arasar Seeralar, A. T.

AU - Gupta, Aayush

AU - Srivastava, Achal K.

AU - Joshi, Aditi

AU - Sinha, Aditi

AU - Jandial, Aditya

AU - Khan, Afreen

AU - Sonakar, Akhilesh K.

AU - Chandy, Alex

AU - Sharma, Aman

AU - Roy, Ambuj

AU - Rawat, Amit

AU - Biswas, Amitabh

AU - Vanlalawma, Andrew

AU - Chaudhary, Anita

AU - Chopra, Anita

AU - Panday, Ankit

AU - Sabharwal, Ankit

AU - Mitra, Ankita

AU - Narang, Ankita

AU - Rajab, Anna

AU - Kumar, Anoop

AU - Gurjar, Anoop Singh

AU - Ranawat, Anop Singh

AU - Anu, R. I.

AU - Tiwary, Anup Kumar

AU - Anuradha,

AU - Kalanad, Aquil

AU - Mathur, Aradhana

AU - Lakshman, Arjun

AU - Batra, Arushi

AU - Bagga, Arvind

AU - Aggarwal, Ashish

AU - Gupta, Ashok

AU - Rastogi, Ashu

AU - Aslam, P. K.

AU - Astha, V.

AU - Nair, Aswin

AU - Athulya, E. P.

AU - Chatterjee, Atri

AU - Jindal, Atul

AU - Kashyap, Atul Kumar

AU - Priyadarshini, B.

AU - Thapa, Babu Ram

AU - Bhargava, Balram

AU - Sharma, Balram

AU - Jolly, Bani

AU - Uppilli, Bharath Ram

AU - Balachander, Bharathi

AU - Shankar, Bhim

AU - Kar, Bibhas

AU - Binukumar, B. K.

AU - Lalchhandama, C.

AU - Datar, Chaitanya

AU - Sachidanandan, Chetana

AU - Master, D. C.

AU - Khera, Daisy

AU - Chowdhury, Debashish

AU - Danda, Debashish

AU - Kumar, Deepak

AU - Pandhi, Deepika

AU - Siddharthan, Deepti

AU - Sharma, Disha

AU - Pachat, Divya

AU - Sharma, Brijesh

AU - Vegulada, Durga Rao

AU - Naidu, G. S.R.S.N.K.

AU - Padma, G.

AU - Vishnu Priya, G.

AU - Sharma, Gautam

AU - Gauthamen, R.

AU - Govindaraj, Geeta

AU - Varghese, George M.

AU - Gireesh, S.

AU - Unnikrishnan, Gopi Krishnan

AU - Hafiz, S. A.

AU - Hazeena, K. R.

AU - Dhiman, Heena

AU - Singh, Hema

AU - Sarkar, Hrishikesh

AU - Ahmed, Istaq

AU - Menon, Jagadeesh

AU - Goraya, Jatinder

AU - Mathew, Jennifer

AU - Thottath, Jineesh

AU - Sahu, Jitendra K.

AU - Oswal, Jitendra

AU - Menachery, John

AU - Hariprakash, Judith Mary

AU - Bhargava, K.

AU - Talwar, K. K.

AU - Cherian, K. M.

AU - Aravindan, K. P.

AU - Pramila, K.

AU - Saroja, K.

AU - Shantaraman, K.

AU - Pandhare, Kavita

AU - Mandapati, Kiran Kumar

AU - Kiran, P.

AU - Rakesh, Kotha

AU - Shah, Krati

AU - Krishnan, C.

AU - Shah, Kriti

AU - Singh, Kuldeep

AU - Anand, Kuljeet

AU - Pachuau, Lalawmpuii

AU - Chandrashekar, Laxmisha

AU - Rajasekhar, Liza

AU - Mishra, Lopamudra

AU - Padma, M. V.

AU - Kabra, Madhulika

AU - Chowdhary, Madhumita Roy

AU - Seth, Malika

AU - Rai, Maneesh

AU - Kumar, Manish

AU - Parakh, Manish

AU - Goyal, Manisha

AU - Gurjar, Manisha

AU - Sahay, Manisha

AU - Rophina, Mercy

AU - Mukerji, Mitali

AU - Ali, Mohammed

AU - Faruq, Mohammed

AU - Karippoth, Mohandas Nair

AU - Divakar, Mohit Kumar

AU - Jayakrishnan, M. P.

AU - Kumar, Mukesh

AU - Poojary, Mukta

AU - Prabhu, Mukund A.

AU - Kumar, Nachimuthu Senthil

AU - Rais, Nadeem

AU - Bhaskaranand, Nalini

AU - Bagri, Narendra Kumar

AU - Sankhyan, Naveen

AU - Awasthy, Neeraj

AU - Gupta, Neeraj

AU - Parakh, Neeraj

AU - Gupta, Neerja

AU - Bhari, Neetu

AU - Kushwaha, Neetu

AU - Sharma, Neha

AU - Virmani, Neha

AU - Kundu, Nilanjan

AU - Plakkal, Nishad

AU - Tyagi, Nishu

AU - Radhakrishnan, Nita

AU - Naik, Nitish

AU - Rai, Nitish

AU - Mondal, Nivedita

AU - Bhargava, Nupur

AU - Hari, Pankaj

AU - Sehgal, Paras

AU - Kumar, Piyush

AU - Chauhan, Pooja

AU - Mailankody, Pooja

AU - Sharma, Pooja

AU - Parakh, Poonam

AU - Nair, Pragya A.

AU - Chakraborty, Praloy

AU - Shirol, Prasanna Kumar

AU - Singh, Pratibha

AU - Gangadhar, Pratosh

AU - Kumar, Prawin

AU - Chandra, Purna

AU - Krishnan, R.

AU - Srilakshmi, R.

AU - Lakshmi, R. Sriranga

AU - Anantharaman, R.

AU - Mahadevan, Radha

AU - Mahajan, Rahul

AU - Shanmugam, Rajasubramaniam

AU - Sharma, Rajat

AU - Rajendran, V. R.

AU - Dhamija, Rajinder K.

AU - Ramanan, Rajit Pillai

AU - Kumar, Rajive

AU - Rajneesh, A. R.

AU - Juneja, Rajnish

AU - Aggarwal, Rakesh

AU - Sahay, Rakesh

AU - Ramakrishnan, S.

AU - Narayanan, Ranjith

AU - Shukla, Ravindra

AU - Koshy, Remya

AU - Kumari, Renu

AU - Chaudhary, Richa

AU - Jain, Richa

AU - Arakkal, Riyaz

AU - Rajan, Roopa

AU - Ravi, Rowmika

AU - Baruah, S.

AU - Sitaraman, S.

AU - Chandra, Sadandandavalli Retnaswami

AU - Chenkual, Saia

AU - Sailaja, V.

AU - Ambawat, Sakshi

AU - Panda, Samhita

AU - Zahra, Sana

AU - Kumar, Sanchit

AU - Arora, Sandeep

AU - Mathur, Sandeep

AU - Seth, Sandeep

AU - Sandhya, P.

AU - Goswami, Sangam

AU - Paul, Sangita

AU - Pandey, Sanjay

AU - Kalyanaraman, Santharaman

AU - Patnaik, Saroj

AU - Wadhwa, Saruchi

AU - Venu, Sathi

AU - Nanda, Satyan

AU - Panda, Saumya

AU - Chopra, Saurabh

AU - Singh, Saurabh

AU - Savinitha, P.

AU - Kapoor, Seema

AU - Sivadasan, Sesh

AU - Sethuraman, G.

AU - Khan, Shaista Parveen

AU - Shaji, C. V.

AU - Gurusamy, Shanmugam

AU - Gulati, Sheffali

AU - Gandhi, Shrey

AU - Ramalingam, Sivaprakash

AU - Nath, Smita

AU - Kumar, Somesh

AU - Sathian, Sona

AU - Lakhani, Sonal

AU - Nair, Soumya S.

AU - Sundaram, Soumya

AU - Ghosh, Sourav

AU - Raju, Sree Bhushan

AU - Valappil, Sreejith

AU - Nair, Sreelata

AU - Puttaiah, Srikanth Kadyada

AU - Nair, Sruthi S.

AU - Geevarghese, Suja K.

AU - Mohanty, Sujata

AU - Khandpur, Sujay

AU - Jain, Suman

AU - Sumeet,

AU - Sharma, Sumit

AU - Trehan, Suruchi

AU - Sharma, Suvasini

AU - Jain, Sweta

AU - Jain, Swetha

AU - Badam, Tarun Kumar

AU - Umamaheswari, S.

AU - Gaharwar, Utkarsh

AU - Shamim, Uzma

AU - Rao, Vadlamudi Raghavendra

AU - Krishna, Vamsi

AU - Jain, Vandana

AU - Suroliya, Varun

AU - Vyas, Varuna

AU - Vedartham, Veena

AU - Venketesh, S.

AU - Senthivel, Vigneshwar

AU - Bhavi, Vijaykumar

AU - Jadhav, Vilas

AU - Gera, Vinay

AU - Dixit, Vishal

AU - Gupta, Vishal

AU - Agarwal, Vishnu

AU - Vishnu, V. Y.

AU - Gupta, Vishu

AU - Vysakha, K. V.

AU - Sharma, Yugal K.

AU - Brahmachari, Samir K.

AU - Sivasubbu, Sridhar

AU - Scaria, Vinod

PY - 2019/9/25

Y1 - 2019/9/25

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85072768015&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85072768015&partnerID=8YFLogxK

U2 - 10.1186/s40246-019-0215-5

DO - 10.1186/s40246-019-0215-5

M3 - Review article

VL - 14

JO - Human Genomics

JF - Human Genomics

SN - 1473-9542

IS - 1

M1 - 1

ER -

Bajaj A, Mathew S, Vellarikkal SK, Sivadas A, Bhoyar RC, Joshi K et al. Genomics of rare genetic diseases - Experiences from India. Human Genomics. 2019 Sep 25;14(1). 1. https://doi.org/10.1186/s40246-019-0215-5