| Title: | Prevalence of mutations in recessive genes for severe neurodevelopmental disorders in the healthy population |
| Lead Institution: | Radboud University Medical Centre |
| Principal investigator: | Dr Christian Gilissen |
Application 66493
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About
In the western population, approximately 1% of newborns is affected by a neurodevelopmental disorder (NDD). Whereas many disorders such as blindness and deafness are commonly caused by inherited variants from parents, for NDDs most cases are due to new mutations that arise spontaneously in the child. In order to understand this striking difference we intend to investigate whether rare inherited variants in these NDD genes may have subtle effects on human health and fitness and could thereby explain why such variants occur less in the general population. This study will take approximately 2 years and will if successful will increase our understanding of the genetic causes of NDDs and may help to reduce the number of people affected by them.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 15339 | Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants | Hila Fridman (+4) | 2025 | Nature Human Behaviour |
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