Intractable & Rare Diseases Research
Online ISSN : 2186-361X
Print ISSN : 2186-3644
ISSN-L : 2186-3644
Comprehensive Rare Disease Care model for screening and diagnosis of rare genetic diseases – an experience of private medical college and hospital, South India
Sathish Raju NilakantamDeepa BhatM.D. Ravi(Col) M DayanandaH. BasavanagowdappaK Jagadish Kumar
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2020 Volume 9 Issue 3 Pages 179-183


Rare diseases (RD) of genetic origin are raising public health concern contributing to a massive economic burden in India. Establishing Specialty Centers to bridge the RD community with apex centers is felt as a need in developing countries. Hence a Comprehensive Rare Disease Care (CRDC) model was set up at the department of pediatrics under Center for Human Genomics and Counseling at a medical college hospital in South India. The patients suspected to have genetic disease were evaluated as per the work flow of the designed model. The utilization statistics depict the outcome of this model. In the face of limited resources, it was possible to establish a functional RD unit with meticulous planning, supportive administration and trained interdisciplinary staff. A scalable prototype that could be replicated in other Medical colleges and Hospitals of India is described.

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© 2020 International Research and Cooperation Association for Bio & Socio-Sciences Advancement
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