John Perry

2 months ago | cell.com | Naomi Wilcox |Jonathan P Tyrer |Joe Dennis |Xin Yang |John Perry |Eugene J. Gardner | +1 more

Keywordsheritabilitygeneticscancerrare variantsexomeburdenprotein-truncating variantsIntroductionGenome-wide association studies (GWASs) have been highly successful at identifying common variants associated with disease. Increasingly, association studies are being extended to study rare variants using next-generation sequencing methods.

Feb 7, 2025 | eastoregonian.com | John Perry

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Jan 22, 2025 | nature.com | John Means |Anabel L. Martinez-Bengochea |Daniel Louiselle |John Perry |Emily G Farrow |Tomi Pastinen | +2 more

Personalized antisense oligonucleotides (ASOs) have achieved positive results in the treatment of rare genetic disease1. As clinical sequencing technologies continue to advance, the ability to identify patients with rare disease harbouring pathogenic genetic variants amenable to this therapeutic strategy will probably improve. Here we describe a scalable platform for generating patient-derived cellular models and demonstrate that these personalized models can be used for preclinical evaluation of patient-specific ASOs. We describe protocols for delivery of ASOs to patient-derived organoid models and confirm reversal of disease-associated phenotypes in cardiac organoids derived from a patient with Duchenne muscular dystrophy (DMD) with a structural deletion in the gene encoding dystrophin (DMD) that is amenable to treatment with existing ASO therapeutics. Furthermore, we designed novel patient-specific ASOs for two additional patients with DMD (siblings) with a deep intronic variant in the DMD gene that gives rise to a novel splice acceptor site, incorporation of a cryptic exon and premature transcript termination. We showed that treatment of patient-derived cardiac organoids with patient-specific ASOs results in restoration of DMD expression and reversal of disease-associated phenotypes. The approach outlined here provides the foundation for an expedited path towards the design and preclinical evaluation of personalized ASO therapeutics for a broad range of rare diseases. A scalable platform for generating patient-specific organoids for testing personalized oligonucleotide therapeutics is described.

Aug 21, 2024 | insidehousing.co.uk | John Perry

Comment As councils defer housebuilding due to dire financial straits, John Perry, policy advisor at the Chartered Institute of Housing, looks at potential investment plans Sharelines As councils defer housebuilding due to dire financial straits, John Perry, policy advisor at the Chartered Institute of Housing, looks at potential investment plans #UKhousing News that three London councils have deferred new housebuilding projects was another of the red flags that signal the worrying state of...

Apr 17, 2024 | insidehousing.co.uk | John Perry

You are viewing 1 of your 1 free articlesCommentHow should social landlords respond to rising migration and government migration policy, asks John Perry, policy advisor at the Chartered Institute of HousingJohn Perry is also a contributing editor of the UK Housing Review seriesSharelinesHow does increased migration affect housing providers?