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Genetic Diagnosis of Rare Diseases: Past and Present

Abstract

Rare diseases are heterogeneous life-threatening or seriously debilitating conditions that affect < 1 in 2000 individuals, and most have a genetic component. The diagnostic process is usually based on classic clinical practices, such as physical examination, personal and family history (inheritance pattern), laboratory tests and image studies, but diagnosis can be delayed several years after the initiation of symptoms. The advances in molecular genetics that have taken place in recent years have led to an important shift in medical practice and in its approach to the diagnosis and treatment of many rare diseases. The objective of this review is to promote a better understanding of the mechanisms underlying genetic diseases in humans and the tools available for their diagnosis. A practical example of X-linked hypophosphataemic rickets is described.

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Acknowledgements

This supplement has been funded by Kyowa Kirin.

Funding

Kyowa Kirin organized the scientific meeting and contributed to the financing of the publication of the opinion of the speakers presented at that meeting (Madrid, Spain, November 2018).

Medical Writing, Editorial and Other Assistance

The authors would like to thank Anabel Herrero PhD for providing medical writing assistance on behalf of Springer Healthcare. Kyowa Kirin funded the writing assistance provided by Springer Healthcare Ibérica S.L. Ruth Blaikie provided the copy editing of this manuscript.

Authorship

All named authors meet the International Committee of Medical Journal Editors (ICMJE) criteria for authorship for this article, take responsibility for the integrity of the work as a whole and have given their approval for this version to be published.

Disclosures

Dr. Gonzalez-Meneses has received speaker honoraria from Kyowa Kirin for their participation on educational meetings. Dr. Ramos Fuentes has received speaker honoraria from Kyowa Kirin for their participation on educational meetings. Dr. Hernández Jaras has received speaker honoraria from Kyowa Kirin for their participation on educational meetings. Dra. Ars has received speaker honoraria from Kyowa Kirin for their participation in educational meetings.

Compliance with Ethics Guidelines

This article is based on previously conducted studies and does not contain any new studies with human participants or animals performed by any of the authors.

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Correspondence to Feliciano Ramos-Fuentes.

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Ramos-Fuentes, F., González-Meneses, A., Ars, E. et al. Genetic Diagnosis of Rare Diseases: Past and Present. Adv Ther 37, 29–37 (2020). https://doi.org/10.1007/s12325-019-01176-1

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  • DOI: https://doi.org/10.1007/s12325-019-01176-1

Keywords

  • Diagnosis
  • Genetics
  • Rare diseases
  • X-Linked hypophosphataemic rickets