Principal Research Data Steward / Bioinformatics / Splicing / Rare Diseases
Joined October 2009
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Nicholas Owen retweeted
We just hit 4.2K members in our FREE alerts Discord! 🎉
And we have just officially launched US alerts!
To celebrate, we’re giving away a Prismatic Evolutions Accessory Pouch inside the Discord 🔥
Join Below and enter in the # Giveaway channel
discord.gg/tvPAEZSTdY
#PokemonTCG #Pokemon
pleased to say I am one of the new Nextflow ambassadors, and look forward to working with the community and #UCL, to support training, adoption and development ! #reproducibility
🎉 We are excited to kick off the 2025 Nextflow Ambassador Program with a vibrant, diverse new cohort from 35+ countries! 🌍
Stay tuned for updates and inspiring stories from their journeys! ✨hubs.la/Q033j0Pr0
#Nextflow #NextflowAmbassadors
Nicholas Owen retweeted
Today the government announced a new partnership with Oxford Nanopore designed to enable genomics-based research and bring the benefits of innovative technologies to patients. We are proud to be part of it.
Find out more: ow.ly/XtoA50U0fQi
@nanopore
Interesting paper on predicting drug efficacy on readthrough of PTCs doi.org/10.1038/s41588-024-0…
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Nicholas Owen retweeted
Multiomic comparison of #LimbalStemCells (maintain the #cornea) with #keratinocytes (maintain the #skin) reveals an intriguing interplay of TFs that drive #epithelial similarities & differences in health & disease @JoHZhou_Lab @svheeringen #PLOSBiology plos.io/3rYksbG
Nicholas Owen retweeted
Babies with a rare genetic condition could receive a potentially curative one-off gene therapy before they develop symptoms.
Our final draft guidance recommends routine NHS funding of Zolgensma for treating spinal muscular atrophy.
Learn more: nice.org.uk/guidance/indevel… #NICENews
ALT SMA is a rare, progressive neuromuscular condition caused by a genetic mutation which leads to motor neurones malfunctioning, deteriorating and eventually dying. Zolgensma is a one-off gene therapy designed to address the genetic cause of SMA and its effects are thought to be life-long.
Nicholas Owen retweeted
We’re delighted that NICE has published new guidance recommending Zolgensma as an option for treating pre-symptomatic SMA. Many thanks to all involved in advocating for this access, including clinical and patient experts, the SMA Community, and @MDUK_News: bit.ly/3Ft8z10
Nicholas Owen retweeted
NICE has published new guidance for treatment in pre-symptomatic SMA. Zolgensma is now recommended as an option for treating pre-symptomatic SMA with up to 3 copies of the SMN2 gene, in babies aged 12 months and under. @NICEComms @SMA_UK_ bit.ly/3JJTyu8
ALT Image of researcher with a banner that reads 'BREAKING NEWS' across the middle
Nicholas Owen retweeted
Today is #WorldCancerDay.
Please retweet this to let people know Macmillan is here to do whatever it takes to support those affected by cancer.
Today (and every day) if you need someone to talk to, please turn to us. Call our Support Line on 0808 808 00 00 (open 8am – 8pm) 💚
Nicholas Owen retweeted
I am so pleased that our paper on the loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control & cell cycle progression in the developing retina is in press. This advances our knowledge of #CRB1 retinal disease for our patients onlinelibrary.wiley.com/doi/…
Great to have this work published! `Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina`. Thanks to @MariyaMoosajee and the group at @UCLeye @TheCrick #CRB1 #LCA #RP onlinelibrary.wiley.com/doi/…
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4/Integration of #RNAseq & #DNA #methylation data highlighted key Functional Epigenetic Modules #FEM
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Nicholas Owen retweeted
We had some very special guests today 👉🏼 Team @FightBlindness Jason Menzo (CEO) and colleagues Rusty Kelley, Judy Taylor & Laura Fietta. A pleasure to show them around @Moorfields & @UCLeye. Thank you for supporting our work & looking forward to forging stronger links.
