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Challenges and opportunities for discovering the biology of rare genetic diseases of the brain

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Abstract

Diseases of the human nervous system are an important cause of morbidity and mortality worldwide. These disorders arise out of multiple aetiologies of which rare genetic mutations in genes vital to nervous system development and function are an important cause. The diagnosis of such rare disorders is challenging due to the close overlap of clinical presentations with other diseases that are not of genetic origin. Further, understanding the mechanisms by which mutations lead to altered brain structure and function is also challenging, given that the brain is not readily accessible for tissue biopsy. However, recent developments in modern technologies have opened up new opportunities for the analysis of rare genetic disorders of the brain. In this review, we discuss these developments and strategies by which they can be applied effectively for better understanding of rare diseases of the brain. This will lead to the development of new clinical strategies to manage brain disorders.

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Acknowledgements

Work in the authors’ laboratory is supported by the Department of Atomic Energy, Government of India, under Project Identification No. RTI 4006; the Department of Biotechnology, Government of India; the Pratiksha Trust; and Rohini Nilekani Philanthropies.

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Authors and Affiliations

  1. National Centre for Biological Sciences–TIFR, GKVK Campus, Bellary Road, Bengaluru, 560065, India

    Padinjat Raghu, Yojet Sharma, Aswathy Bhuvanendran Nair Suseela Devi & Harini Krishnan

  2. Centre for Doctoral Studies, Manipal Academy of Higher Education, Manipal, 576104, India

    Yojet Sharma

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  1. Padinjat Raghu
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  2. Yojet Sharma
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  3. Aswathy Bhuvanendran Nair Suseela Devi
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  4. Harini Krishnan
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Correspondence to Padinjat Raghu.

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Corresponding editor: Sudha Bhattacharya

This article is part of the Topical Collection: The Rare Genetic Disease Research Landscape in India.

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Raghu, P., Sharma, Y., Devi, A.B.N.S. et al. Challenges and opportunities for discovering the biology of rare genetic diseases of the brain. J Biosci 49, 26 (2024). https://doi.org/10.1007/s12038-023-00408-5

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