Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
Level 5 - mechanism / opinion, no new human data
Narrative review without systematic methodology or primary human data.
PubMed 23999272 · doi:10.1038/nrg3555
What was done
This narrative review synthesized the evolution of rare-disease genetics enabled by next-generation sequencing. The authors examined strategies for identifying disease-causing genes and evaluated their clinical and translational impacts across diagnostics, mechanistic understanding, and therapeutic development.
What was found
The authors report that over the preceding 25 years, causal genes were identified for approximately 50% of an estimated 7,000 rare monogenic diseases. They noted projections that most remaining disease-causing genes would be discovered by 2020 due to advances in DNA-sequencing technologies and computational analyses. No primary experimental numbers or statistical analyses were reported in the abstract.
Why it matters
The paper outlines the transition of rare-disease genetics from basic gene discovery to clinical diagnostic integration and targeted therapeutic development.
Limits
As a narrative review, it lacks a systematic search protocol, study quality assessment, or primary empirical data. Projections regarding gene discovery timelines represent expert estimates rather than prospectively tested empirical endpoints.
Cited by
- supports There are approximately 6,000 identified monogenic genetic diseases caused by single gene mutations.