Alex Geary
Postdoctoral Bioinformaticial in the Computational Rare Disease Genomics group (Nicky Whiffin). univ. Oxford 🧬💻
Loves Evolution, regulation, cheese and cats. She/Her
- Reposted by Alex GearyWe are looking for the last ever intake of HGU PhD students to start in September. If you are passionate about biomedical research and are interested in doing a PhD, please apply by 11 January. Find out more here 👉 edin.ac/4srdd6t Apply here 👉https://edin.ac/49aBgPz
- It is a big day for me : a 🧵🪡 For the last five years I have had the absolute honour of being a postdoc in the 💜INCREDIBLE🩷 Computational Rare Disease Genomics group at the Nuffield Department of Medicine (@ndm.ox.ac.uk @ox.ac.uk), Uni. of Oxford (@ox.ac.uk).
- In that time, under the phenomenal guidance of @nickywhiffin.bsky.social it has grown into a powerhouse of awesome science, empowerment and joy. I am devastated to be leaving, but am doing so with all the tools and support I need to succeed - a testament to Nicky's skills as a leader and mentor!
- From January the first I will be taking my first steps into independence as the shiny new Lecturer in Computational Genomics, in the Institute of Genetics and Cancer (@uoe-igc.bsky.social) at the University of Edinburgh (@edinburgh-uni.bsky.social)
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View full threadIt has been a big day, full of big emotions, but the biggest is the gratitude I feel to all the members of the CRDG, past and present, especially @nickywhiffin.bsky.social, and to @jorisveltman.bsky.social and @margotwyrwoll.bsky.social for already making me feel so welcome! 🧬Exciting times ahead!👩💻
- I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores” www.medrxiv.org/content/10.1...
- SpliceAI is an invaluable tool to identify splice-altering variants. The provision of precomputed scores for all theoretically possible SNVs, 1 base insertions, and 1-4 base deletions has extended this further, massively reducing the time and cost associated with running spliceAI directly.
- These scores also underlie spliceAI annotations in many variant effect predictors such as the @ensembl.org VEP, forming the basis for annotation in many diagnostic pipelines.
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View full threadAnd a special shout out to the absolutely awesome senior author on this - @ruebenadawes.bsky.social who was a total delight to work with from start to finish!
- Reposted by Alex GearyI learned so much from this work and I hope that and discoveries like this can make a real difference to the lives of people living with #RareConditions. Please do share! 😊 www.medrxiv.org/content/10.1...
- Reposted by Alex GearyThe headlines? 1) Variants on both copies of #RNU4-2 cause a recessive neurodevelopmental disorder with prominent speech delay 2) One of the hallmarks is distinct white matter changes on MRI 3) It is clinically and genetically distinct from #ReNU syndrome www.medrxiv.org/content/10.1...
- An awesome piece of work by @alexblakes.bsky.social, @rociorius.bsky.social, @nickywhiffin.bsky.social and team! I am super excited to see more emerging from this tiny, but mighty gene, and am overjoyed at the implications this has for the rare disorders community ❤️
- I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2! tinyurl.com/3j9r56s8 @rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
- Reposted by Alex Geary3/ The review outlines how UTR variants cause disease, such as: - Create or remove upstream AUGs (uAUGs) - Alter splicing - Alter polyadenylation - Interfere with miRNA or protein binding
- This is such an awesome review paper from @nechamawieder.bsky.social! UTRs are more than just 'buffers' for the coding sequence - they contain a wealth of important regulatory features!
- Super excited to share our new review paper - The role of untranslated region variants in Mendelian disease! www.nature.com/articles/s41...
- Reposted by Alex GearyYou seem’d of late to make the law a tyrant
- Want a Friday mood boost whilst also raising awareness of rare disorders? Then this fresh drop from the band of one of the GEL participant panel members is for you! ♥️🎶♥️ Play it loud, share it widely! (Beware - it is _extremely_ catchy!) open.spotify.com/album/1f2CAX...
- Reposted by Alex GearyLove to my trans sisters, always. #TransRightsAreHumanRights
- Reposted by Alex Gearyif you are a cis person it costs you nothing to just say today that you see & hear your trans sisters & brothers & others over in the UK today -- and around the world, too, knowing that rulings like today's ripple out in ugly ways.
- I am delighted to share with you the news that our shiny new paper has hit the shelves in Genome Medicine!! link.springer.com/article/10.1... Key points (A 🧵):
- Individuals with rare conditions often face long diagnostic odysseys, despite advancements in sequencing technologies. We wanted to know if we could find new diagnoses by looking beyond the usual protein-coding candidates, incorporating promoters, and UTRs into a diagnostic framework.
- Looking at the genomes of 8,040 participants from @genomicsengland.bsky.social’s 100k genomes project, we systematically identified de novo variants that likely disrupt regulatory processes. link.springer.com/article/10.1...
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View full threadFinally, and most importantly - this would not have been possible without the support, and contributions made by all the participants and families enrolled in @genomicsengland.bsky.social, their clinical teams, and the staff at Genomics England - to whom we are eternally grateful.
- Reposted by Alex GearyWe're quite excited about this story as it showcases the power of SGE to dissect non-coding genes and to uncover new disease associations and diagnoses. This has, indeed, been an excellent collaboration...
- 🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2: www.medrxiv.org/content/10.1... A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk 🧬🖥️🩺 🧵1/12
- Reposted by Alex Geary🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2: www.medrxiv.org/content/10.1... A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk 🧬🖥️🩺 🧵1/12
- This is excruciatingly painful to read, and also a really powerful reminder that the participants are always the heart of any study ♥️
- "Remember that it's not only scientists that read your papers" - sage advice from author of a beautiful poem 'Proband', which began life as a response to our DDD NEJM paper, linking genomic science and its patients. www.consilience-journal.com/issue-17-pro...
- Super late to rare disease weekend, but how awesome is this lady! A stellar scientist, advocate for the rare disease community, mentor, & person. As a rare human, I’m so glad that people like Nicky are doing their absolute best for the rare condition community ♥️ @nickywhiffin.bsky.social
- I had the honour of accompanying the wonderful Yuyang Chen to the Genetic Alliance #rareDiseaseDay2025 reception today. It was fantastic to meet so many incredible people, and hear such powerful stories. Read the anthology “More than you can imagine” here: geneticalliance.org.uk/campaigns-an...
- Non Science post - I tried to book a GP appointment. They now use an online system requiring an online consultation. This includes a bot that suggests some vaguely horrifying possible diagnoses, and many irrelevant questions. I did submit it - many won't. I still don't have an appointment.
- Reposted by Alex GearyIf you have any questions about working as an editor at Nature Portfolio, please don't hesitate to reach out.
- a great opportunity to join the Nature team: we're looking for a neuroscience editor, ideally with a strong record in systems neuro: springernature.wd3.myworkdayjobs.com/SpringerNatu...
- Reposted by Alex GearyFailure is a cornerstone of scientific research, but it still feels bad. Here is a short article I wrote on how to mentally deal with "failed" experiments. Does a truly "failed" experiment actually exist?? @academic-chatter.bsky.social #academicsky #microsky elisagranato.com/phd-tips-dea...
- Wonderful - absolutely wonderful! Can we replace her FRS with an award? 🏆 www.theguardian.com/technology/2...
- I often think it, but it is worth saying aloud - every day I am thankful for beepr ❤️ www.r-project.org/nosvn/pandoc...
