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 language | English |
|---|---|
| Article number | 1 |
| Journal | Human Genomics |
| Volume | 14 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 25-09-2019 |
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All Science Journal Classification (ASJC) codes
- Molecular Medicine
- Molecular Biology
- Genetics
- Drug Discovery
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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 journal › Review 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
C2 - 31554517
AN - SCOPUS:85072768015
VL - 14
JO - Human Genomics
JF - Human Genomics
SN - 1473-9542
IS - 1
M1 - 1
ER -