Loading...
Market
Which additional RNU4 variants will be identified as contributing to NDD by end of 2024?
2
Resolution / Starting Odds
RNU4-1 • 25%
RNU4-3 • 25%
RNU4-4 • 25%
Other • 25%
Publication in a peer-reviewed journal or genetic databases
Story
Nature Study Links RNU4-2 Variants to 0.4% of Neurodevelopmental Disorders
Jul 12, 2024, 01:08 AM
A groundbreaking study published in Nature has identified de novo variants in the RNU4-2 snRNA as a frequent cause of neurodevelopmental disorders (NDD). The research highlights that mutations in the RNU4-2 gene, a non-coding gene encoding a small nuclear RNA (snRNA), are linked to a significant number of NDD cases, explaining up to 0.4% of these disorders. Notably, the de novo variants, which involve a stretch of 18 bp, were all found on the maternal allele. This discovery marks a landmark moment in the history of NDD genetics, with hundreds of individuals already diagnosed with severe developmental delays due to these mutations.
View original story
Similar markets
Yes • 50%
No • 50%
Severe Combined Immunodeficiency • 25%
Long QT Syndrome • 25%
Cystic Fibrosis • 25%
Other • 25%
Yes • 50%
No • 50%
Yes • 50%
No • 50%
Yes • 50%
No • 50%
Major changes • 25%
Minor changes • 25%
No changes • 25%
Discontinues gene therapy • 25%
1 to 3 • 25%
4 to 6 • 25%
7 to 9 • 25%
10 or more • 25%
Yes • 50%
No • 50%
Diabetes • 25%
Obesity • 25%
Heart Disease • 25%
Chronic Pain • 25%
1-5 treatments • 25%
6-10 treatments • 25%
11-15 treatments • 25%
More than 15 treatments • 25%
Human tissues • 25%
Animal tissues • 25%
Plant tissues • 25%
Other • 25%