International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F17%3A10373812" target="_blank" >RIV/00064203:_____/17:10373812 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/17:10373812
Result on the web
<a href="https://doi.org/10.1016/j.ajhg.2017.04.003" target="_blank" >https://doi.org/10.1016/j.ajhg.2017.04.003</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.ajhg.2017.04.003" target="_blank" >10.1016/j.ajhg.2017.04.003</a>
Alternative languages
Result language
angličtina
Original language name
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Original language description
Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey,'' improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choices. In a general clinical genetics setting, the current diagnostic rate is approximately 50%, but for those who do not receive a molecular diagnosis after the initial genetics evaluation, that rate is much lower. Diagnostic success for these more challenging affected individuals depends to a large extent on progress in the discovery of genes associated with, and mechanisms underlying, rare diseases. Thus, continued research is required for moving toward a more complete catalog of disease-related genes and variants. The International Rare Diseases Research Consortium (IRDiRC) was established in 2011 to bring together researchers and organizations invested in rare disease research to develop a means of achieving molecular diagnosis for all rare diseases. Here, we review the current and future bottlenecks to gene discovery and suggest strategies for enabling progress in this regard. Each successful discovery will define potential diagnostic, preventive, and therapeutic opportunities for the corresponding rare disease, enabling precision medicine for this patient population.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
10600 - Biological sciences
Result continuities
Project
<a href="/en/project/7E13069" target="_blank" >7E13069: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
The American Journal of Human Genetics
ISSN
0002-9297
e-ISSN
—
Volume of the periodical
100
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
11
Pages from-to
695-705
UT code for WoS article
000400560000001
EID of the result in the Scopus database
2-s2.0-85018752274