Rare genetic diseases: update on diagnosis, treatment and online resources

•Rare diseases collectively impact a large portion of the world’s population.•Advances in technology are allowing a better understanding of rare disorders.•Molecular techniques are helping improve the efficiency of the diagnostic process.•Several therapeutic strategies are also being developed for r...

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Bibliographic Details
Published in:Drug discovery today 2018-01, Vol.23 (1), p.187-195
Main Authors: Pogue, Robert E., Cavalcanti, Denise P., Shanker, Shreya, Andrade, Rosangela V., Aguiar, Lana R., de Carvalho, Juliana L., Costa, Fabrício F.
Format: Article
Language:English
Subjects:
Animals
Genetic Diseases, Inborn - diagnosis
Genetic Diseases, Inborn - drug therapy
Genetic Diseases, Inborn - genetics
Health Education
Health Personnel
Humans
Patient Participation
Rare Diseases - diagnosis
Rare Diseases - drug therapy
Rare Diseases - genetics
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Summary:•Rare diseases collectively impact a large portion of the world’s population.•Advances in technology are allowing a better understanding of rare disorders.•Molecular techniques are helping improve the efficiency of the diagnostic process.•Several therapeutic strategies are also being developed for rare genetic diseases.•Web-based tools started helping healthcare professionals in differential diagnosis. Rare genetic diseases collectively impact a significant portion of the world’s population. For many diseases there is limited information available, and clinicians can find difficulty in differentiating between clinically similar conditions. This leads to problems in genetic counseling and patient treatment. The biomedical market is affected because pharmaceutical and biotechnology industries do not see advantages in addressing rare disease treatments, or because the cost of the treatments is too high. By contrast, technological advances including DNA sequencing and analysis, together with computer-aided tools and online resources, are allowing a more thorough understanding of rare disorders. Here, we discuss how the collection of various types of information together with the use of new technologies is facilitating diagnosis and, consequently, treatment of rare diseases.
ISSN:1359-6446
1878-5832
DOI:10.1016/j.drudis.2017.11.002