The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic diagnosis. ES is an examination of all sections of our genetic material (DNA) that code for proteins.
The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing , leading to a molecular genetic diagnosis. ES is an examination of all sections of our genetic material that code for proteins.
As part of the TRANSLATE NAMSE project, standardized procedures for extended genetic diagnostics for suspected rare diseases were also established at the participating rare disease centers, based on interdisciplinary case conferences. These were incorporated into standard care after the project was completed."The interdisciplinary case conferences play an important role for those affected.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsScientists have shown that in one in every 4,000 births, some of the genetic code from our mitochondria -- the 'batteries' that power our cells -- inserts itself into our DNA, revealing a ...
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