UPDATE ON NOVEL GENE DISCOVERY FROM INDIA IN SINGLE GENE DISORDERS

A. DAS BHOWMIK¹*
¹Diagnostics Facility, AIC-Centre for Cellular & Molecular Biology, CCMB Annexe II, Hyderabad, 500039, India
* Corresponding Author : aneekbiotech@gmail.com

Received : 01-03-2021     Accepted : 26-03-2021     Published : 30-03-2021
Volume : 13     Issue : 3       Pages : 807 - 820
Genetics 13.3 (2021):807-820

Keywords : Single gene disorders, Consanguineous marriages, Next generation sequencing, Disease-gene identification
Academic Editor : Dr Ajinkya Suresh Sase
Conflict of Interest : None declared
Acknowledgements/Funding : Author is thankful to all the Indian institutes referred in this article and the Society of Indian Academy of Medical Genetics for their continuous effort in conducting and documenting novel disease-gene association studies on Indian population. Author is also thankful to Diagnostics Facility, AIC-Centre for Cellular & Molecular Biology, Hyderabad, 500039, India
Author Contribution : Sole author

Single gene disorders are mostly rare in nature and jointly an important cause of morbidity and mortality in India. The identification of disease-causing genes for single gene disorders has important value in prenatal diagnosis and genetic counseling of affected individuals and their families. Once gene is identified, families have the option to look for the presence of the disease causing variation in the second child through genetic testing before the birth of the child and plan accordingly. It also has immense importance in basic research towards understanding gene functions and mechanisms of disease that may help in development of new therapeutic options. India has a rich resource of patients with single gene disorders, owing to the large population and practice of consanguineous marriages. With the advent of high throughput next generation sequencing technologies, disease-gene identification studies not only help in capacity building in the country but also provide new insights into human gene functions. This review article briefly summarize the number of novel genes reported from India till date in association with single gene disorders