Vincent
@vdion.bsky.social
190 followers
220 following
15 posts
Prof of DNA repair and neurodegeneration at the UK DRI at Cardiff university.
Huntington’s disease
Myotonic dystrophy and others
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Vincent
@vdion.bsky.social
· Aug 30
Interruptions impact clinical features of repeat expansion diseases, but how are they gained and lost?
Interruptions within expanded tandem repeats reduce somatic expansion and alter the severity of the resulting diseases. Consequently, much has been do…
www.sciencedirect.com
Reposted by Vincent
Reposted by Vincent
Reposted by Vincent
Vincent
@vdion.bsky.social
· Apr 20
Vincent
@vdion.bsky.social
· Apr 3
Gene therapy, brain stimulation and drug targets: latest round of Translation Awards announced
We are pleased to announce the eight awardees in the fifth round of the UK DRI Translation Award programme – designed to unlock impact and drive translation within the Institute, kick starting the ear...
www.ukdri.ac.uk
Vincent
@vdion.bsky.social
· Feb 26
Vincent
@vdion.bsky.social
· Feb 26
Vincent
@vdion.bsky.social
· Feb 26
Vincent
@vdion.bsky.social
· Feb 26
Reposted by Vincent
Vincent
@vdion.bsky.social
· Dec 10
Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants
Expansions and contractions of tandem DNA repeats are a source of genetic variation in human populations and in human tissues: some expanded repeats cause inherited disorders, and some are also somati...
www.biorxiv.org
Vincent
@vdion.bsky.social
· Nov 23
Suppression of Huntington's Disease Somatic Instability by Transcriptional Repression and Direct CAG Repeat Binding - PubMed
Huntington's disease (HD) arises from a CAG expansion in the <i>huntingtin</i> ( <i>HTT</i> ) gene beyond a critical threshold. A major thrust of current HD therapeutic development is lowering levels ...
pubmed.ncbi.nlm.nih.gov