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

被引：61

作者：

Pogue, Robert E. ^{[1
]}

Cavalcanti, Denise P. ^{[4
]}

Shanker, Shreya ^{[5
]}

Andrade, Rosangela V. ^{[1
]}

Aguiar, Lana R. ^{[1
]}

de Carvalho, Juliana L. ^{[1
,6
]}

Costa, Fabricio F. ^{[1
,2
,3
]}

机构：

[1] Univ Catolica Brasilia, Genom Sci & Biotechnol Program, Brasilia, DF, Brazil

[2] MATTER, Chicago, IL USA

[3] Founder Inst, San Francisco, CA USA

[4] Univ Campinas UNICAMP, Sao Paulo, Brazil

[5] IMSA, Aurora, IL USA

[6] OneSkin Technol, San Francisco, CA USA

来源：

DRUG DISCOVERY TODAY | 2018年 / 23卷 / 01期

关键词：

PLURIPOTENT STEM-CELLS; OSTEOGENESIS IMPERFECTA; BIOMEDICAL-RESEARCH; IPS CELLS; THERAPY; TRANSPLANTATION; DISORDERS; DISCOVERY; IMMUNODEFICIENCY; DEFICIENCY;

D O I：

10.1016/j.drudis.2017.11.002

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

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.

引用

页码：187 / 195

页数：9

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