Genomics of rare genetic diseases—experiences from India

被引：0
作者：
Sridhar Sivasubbu
Vinod Scaria
机构：
[1] CSIR Institute of Genomics and Integrative Biology,
[2] Academy of Scientific and Innovative Research,undefined
[3] National Institute of Mental Health and Neuro Sciences,undefined
[4] Thalassemia and Sickle Cell Society,undefined
[5] Institute of Child Health and Hospital for Children,undefined
[6] Dr. DY Patil Medical College and hospital,undefined
[7] All India Institute of Medical Sciences,undefined
[8] Post Graduate Institute of Medical Education and Research,undefined
[9] Govt Medical college Kozhikode,undefined
[10] Galgotias University,undefined
[11] Mizoram University,undefined
[12] Sawai Man Singh Medical College,undefined
[13] Wadia Children Hospital,undefined
[14] VPS Healthcare,undefined
[15] Government Medical College,undefined
[16] MVR Cancer Centre and Research Institute,undefined
[17] Government Medical College,undefined
[18] Government Medical College Kozhikode,undefined
[19] JK Lone Hospital,undefined
[20] Sawai Man Singh Medical College,undefined
[21] Christian Medical College Hospital,undefined
[22] Vardhman Mahavir Medical College & Safdurjung Hospital,undefined
[23] All India Institute of Medical Sciences,undefined
[24] St. Johns Medical College Hospital,undefined
[25] Lakeshore Hospital,undefined
[26] Madras Medical Mission,undefined
[27] Department of Pathology,undefined
[28] Civil Hospital Aizawl,undefined
[29] Sahyadri Medical Genetics and Tissue Engineering Facility,undefined
[30] Medical College,undefined
[31] All India Institute of Medical Sciences,undefined
[32] GB Pant Hospital,undefined
[33] University College of Medical Sciences and Guru Teg Bahadur Hospital,undefined
[34] Malabar Institute of Medical Sciences,undefined
[35] Dr. Ram Manohar Lohia hospital,undefined
[36] Genes N life Healthcare,undefined
[37] Christian Medical College,undefined
[38] sree Chithra Tirunal Institute of Medical Sciences and Technology,undefined
[39] General Hospital,undefined
[40] Noorul Islam Multi Speciality Hospital,undefined
[41] Sawai Man Singh Hospital,undefined
[42] Holy Family Hospital,undefined
[43] Dayanand Medical College & Hospital,undefined
[44] Calicut Medical College,undefined
[45] Government Medical College Kozhikode,undefined
[46] Bharati Vidyapeeth Medical College and Hospital,undefined
[47] Rajagiri Hospital,undefined
[48] Max Super Speciality Hospital,undefined
[49] Frontier Lifeline and Dr. K. M. Cherian Heart Foundation,undefined
[50] Tirunelveli Medical College,undefined
来源：
Human Genomics | / 13卷 / 1期
关键词：
Rare disease; Genomics; India; Genetic diversity; Diagnostics; GUaRDIAN; Zebrafish; IPSCs; Patient support;
D O I：
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中图分类号：
学科分类号：
摘要：
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.
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