faravellif.bsky.social
@faravellif.bsky.social
Reposted
The Greek government’s decision to delegate newborn screening to private organisations without prior public consultation raises concerns about transparency and ethical oversight. Read the full ESHG statement for details: www.eshg.org/news-home/fo... #NewbornScreening #PublicHealth #eshg
ESHG: 2025 Press Releases
The news that the Greek government has entrusted newborn screening to private organisations raises many concerns. Newborn screening is a vital public health initiative, and significant efforts are…
www.eshg.org
June 12, 2025 at 1:58 PM
Reposted
Siddharth Banka #ESHG2025

R-loop forming regions genes #RNU2-2 and #RNU5B-1 novel non-coding NDD genes #MorbidGene

Clinical features of these new "RNU"pathies
- Hypotonia, macrocephaly, seizures, FTT
- explain 10-15 / 1000 rare NDDs

www.medrxiv.org/content/10.1...
May 25, 2025 at 9:49 AM