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Introduction to Rare Genetic Disorders

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Rare Genetic Disorders

Abstract

Rare genetic disorders are a group of diseases that are caused by changes in a person’s genes. These changes can be inherited from parents or occur spontaneously. Rare genetic disorders can affect any part of the body, and they can range in severity from mild to life-threatening. There are over 7000 rare genetic disorders that have been identified, and many more are still being discovered. These disorders affect an estimated 30 million people in the United States alone. The diagnosis of a rare genetic disorder can be challenging, as the symptoms can be varied and often nonspecific. However, there are a number of genetic tests that can be used to diagnose these disorders. There is no one-size-fits-all treatment for rare genetic disorders. The treatment plan will vary depending on the specific disorder and the individual’s symptoms. However, there are a number of treatments that can help improve the quality of life for people with these disorders. Research into rare genetic disorders is ongoing, and there is hope that new treatments will be developed in the future. In the meantime, there are a number of resources available to help people with rare genetic disorders and their families. This book chapter provides a brief overview of rare genetic disorders, including their causes, symptoms, diagnosis, treatment, and research.

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Author notes

  1. Muthuvel Raju and Langeswaran Kulanthaivel contributed equally and considered as first author.

Authors and Affiliations

  1. Department of Biochemistry, School of Life Sciences, Vels Institute of Science, Technology and Advanced Studies (VISTAS), Chennai, Tamil Nadu, India

    Amudha Parthasarathy

  2. Department of Biochemistry, Karuna Medical College and Hospital, Chittur, Palakkad, Kerala, India

    Muthuvel Raju

  3. Department of Biomedical Science, Science Campus, Alagappa University, Karaikudi, Tamil Nadu, India

    Langeswaran Kulanthaivel

  4. Faculty of Allied Health Sciences, Chettinad Hospital and Research Institute, Chettinad Academy of Research and Education, Kelambakkam, Chennai, Tamil Nadu, India

    Gowtham Kumar Subbaraj

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  2. Muthuvel Raju
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  3. Langeswaran Kulanthaivel
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  4. Gowtham Kumar Subbaraj
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Correspondence to Gowtham Kumar Subbaraj .

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Editors and Affiliations

  1. Medical Genomics Research Department King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia

    Muhammad Umair

  2. Department of Pharmacology Faculty of Medicine Rabigh, King Abdulaziz University, Jeddah, Saudi Arabia

    Misbahuddin Rafeeq

  3. Molecular Genomics and Precision Medicine, ExpressMed Diagnostics and Research, Zinj, Bahrain

    Qamre Alam

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© 2024 The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd.

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Parthasarathy, A., Raju, M., Kulanthaivel, L., Subbaraj, G.K. (2024). Introduction to Rare Genetic Disorders. In: Umair, M., Rafeeq, M., Alam, Q. (eds) Rare Genetic Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-99-9323-9_1

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  • DOI: https://doi.org/10.1007/978-981-99-9323-9_1

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-99-9322-2

  • Online ISBN: 978-981-99-9323-9

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