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Table 3 List of major research centers working on rare diseases in India

From: Genomics of rare genetic diseases—experiences from India

S. no. Research centers Major rare disease research areas
1 All India Institute of Medical Sciences (AIIMS), New Delhi A referral hospital with multiple specialties. Major rare disease areas include skin disorders, mitochondrial disorders, neurological disorders, cardiac disorders, developmental disorders, and pediatric disorders, among others
2 Amrita Institute of Medical Sciences and Research Centre, Cochin Lysosomal storage disorders (LSDs), Werner syndrome
3 Anthropological Survey of India (ASI), Kolkata Hemoglobinopathies
4 CSIR Central Drug Research Institute (CDRI), Lucknow Progressive external ophthalmoplegia
5 CSIR Centre for Cellular and Molecular Biology (CCMB), Hyderabad Mitochondrial disorders, hemoglobinopathies, infertility
6 Centre for Human Genetics (CHG), Bengaluru Inherited metabolic diseases (IMDs), EB, lysosomal storage disorders
7 Christian Medical College and Hospital (CMC), Vellore A referral hospital with multiple specialties. Major rare disease areas include blood disorders among others
8 Center for Genetic Studies and Research, MMM Hospital, Chennai Rare chromosomal diseases
9 FRIGE’s Institute of Human Genetics, Ahmedabad Hemoglobinopathies, musculopathies, neurodegenerative diseases, lysosomal storage disorders, among other genetic diseases
10 CSIR Indian Institute of Chemical Biology (IICB), Kolkata Oculocutaneous albinism (OCA), Wilson disease (WD), autism
11 Indian Institute of Science (IISc), Bengaluru Primary microcephaly, anencephaly, Parkinson’s disease, Wilson disease, and neuromuscular disorders
12 Indira Gandhi Institute of Child Health, Bangalore Lysosomal storage disorders, Prader-Willi syndrome, and skeletal dysplasia, among other rare diseases
13 CSIR Institute of Genomics and Integrative Biology (IGIB), New Delhi A specialized laboratory for research in rare genetic diseases including skin disorders, ataxias, cardiac disorders, neurological disorders, primary immunodeficiency disorders, endocrinology disorders, nephrological disorders, mitochondrial disorders, Wilson disease, hemoglobinopathies, lysosomal storage disorders, and developmental disorders, among others
14 Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry A referral hospital with multiple specialties. Major rare disease areas include Werner syndrome, Fanconi anemia, split hand-split feet syndrome, skin disorders, incontinentia pigmenti
15 Jawaharlal Nehru University (JNU), New Delhi GNE myopathy
16 JK Lone Hospital, SMS Medical College, Jaipur A referral hospital with multiple specialties. Major rare disease areas include ectodermal dysplasias, skeletal dysplasias, neurological disorders, lysosomal storage disorders, and coagulation disorders, among others.
17 Kalawati Saran Children’s Hospital, New Delhi Pediatric disorders
18 King Edward Memorial (KEM) Hospital, Mumbai Hemoglobinopathies, LSDs, inborn errors of metabolism
19 LV Prasad Eye Institute, Hyderabad Eye diseases
20 Manipal University, Manipal A referral hospital with multiple specialties. Major rare disease areas include skeletal dysplasia, neurodegenerative diseases, metabolic disorders, bleeding disorders, and malformation syndromes, among others
21 Maulana Azad Medical College, New Delhi LSDs, skeletal dysplasia, hemophilia, pediatric disorders
22 National Institute of Biomedical Genomics (NIBMG), Kalyani Hemoglobinopathies, Wilson disease, DMD, eye disorders
23 National Institute of Mental Health and Neuro-Sciences (NIMHANS), Bangalore Various rare neuromuscular disorders including limb girdle muscular dystrophy, amyotrophic lateral sclerosis, metabolic myopathies, rare congenital myasthenic syndromes, neuropsychiatric syndromes, SCA, mitochondrial disorders, and metabolic disorders
24 Nizam’s Institute of Medical Sciences, Hyderabad A referral hospital for a variety of rare genetic disease such as LSDs, hemoglobinopathies, and neurodegenerative disorders, among others
25 Osmania University, Hyderabad Rare chromosomal disorders
26 Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh A tertiary referral hospital with multiple specialties. Major rare disease areas include immune diseases, bone diseases, and Wilson diseases, among others
27 Sankara Nethralaya, Chennai Eye diseases
28 Safdarjung Hospital, New Delhi Metabolic diseases, cardiac disorders
29 Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow A referral hospital with multiple specialties. Major rare disease areas include LSDs, oro-facial-digital syndromes, neurodevelopment disorders, hemoglobinopathies, neurodegenerative disorders, and metabolic disorders, among others
30 Sir Ganga Ram Hospital, New Delhi A referral hospital for LSDs, neurodegenerative disorders, IEMs, mitochondrial disorders, and other rare diseases.
31 Sri Chitra Tirunal Institute of Medical Sciences and Technologies, Thiruvananthapuram A referral hospital for immune diseases, autoinflammatory diseases, LSDs, and cardiac diseases, among others
32 The Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad Neuromuscular disorders, metabolic diseases, hemoglobinopathies, thrombotic disorders, triplet repeat disorders, and LSDs, among others
33 The Datta Meghe Institute of Medical Sciences (DMIMS), Wardha Multiple rare diseases
34 All India Institute of Medical Sciences, Jodhpur A referral hospital for several rare diseases including cystic fibrosis, and leucocyte adhesion defect, among others
35 University of Delhi South Campus, New Delhi Inborn errors of metabolism, intellectual disability, and Parkinson’s disease