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 |