Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children
Natàlia Caelles-Gramunt, Jordi Pijuan · 2026
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Description
Natalia Caelles-Gramunt and Jordi Pijuan wrote a review dated two thousand twenty-six on genomic strategies for rare diseases in children. Rare diseases together affect millions of children and cause much illness, death, and lifelong disability. Most have a genetic basis, yet a firm molecular diagnosis often comes late because cases vary so widely.
The review sums up sequencing options, from whole-genome tests to gene panels and older chromosome methods. Whole-genome sequencing is increasingly the first test when the picture is mixed. The authors also cover where each method fits in care, the hurdles to rolling genomics out in clinics, and what comes next.
Catalog record
| CREATOR | Natàlia Caelles-Gramunt, Jordi Pijuan |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 55 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |