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Geoffrey Maher

@geoffreymaher.bsky.social
134 followers 189 following 4 posts

Imperial College London Human Genetics | Gestational Trophoblastic Disease | Placenta | Germ Cells

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Reposted by Geoffrey Maher
Kevin Mitchell @wiringthebrain.bsky.social · 23/06/2026
This is the kind of almost magic-like payoff we get from decades of basic and applied research by thousands of scientists across the globe. This is why we do it.
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Aylwyn Scally @aylwyn-scally.bsky.social · 04/12/2025
This is a meaningless statement, and we can be confident that the people who wrote it have no clue what they are talking about. Not sure how they are allowed to operate a business providing any kind of medical service.
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Reposted by Geoffrey Maher
Shai Carmi @shaicarmi.bsky.social · 05/11/2025
Interesting story in this preprint. A male infant was diagnosed with Fanconi anemia due to an X-linked frameshift mutation. Three years later, his hematopoiesis became normal (without intervention). How? www.medrxiv.org/content/10.1...
medrxiv.org
Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia
Fanconi anemia is a rare inherited bone marrow failure syndrome caused by inactivation of genes in the Fanconi anemia/BRCA DNA repair pathway. We report a patient with X-linked Fanconi anemia, and aty...
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Development @dev-journal.bsky.social · 09/10/2025
An Interview with Azim Surani Ashley Moffett and @geraldinejowett.bsky.social spoke to Azim, recipient of both the 2025 Kyoto Prize and 2026 Paul Ehrlich and Ludwig Darmstaedter Prize, about his non-traditional and inspirational route into academia: journals.biologists.com/dev/article/...
Picture of Azim Surani in a dark blue jumper and light blue collared shirt sitting by a microscope.
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Geoffrey Maher @geoffreymaher.bsky.social · 22/09/2025
Interested in using your computational biology skills to advance understanding of rare tumours and identify biomarkers that will lead to personalised medicine? We have a postdoctoral position open to analyse a unique group of tumours that arise from the placenta. www.imperial.ac.uk/jobs/search-...
imperial.ac.uk
Description
Please note that job descriptions are not exhaustive, and you may be asked to take on additional duties that align with the key responsibilities ment...
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Molly Przeworski @mollyprz.bsky.social · 02/09/2025
In these dark times, it comes as a rare pleasure to highlight @natanaels.bsky.social ‬ & @marcdemanuel.bsky.social's work on germline and somatic mutations in humans. 1/n www.biorxiv.org/cgi/content/...
biorxiv.org
Collateral mutagenesis funnels multiple sources of DNA damage into a ubiquitous mutational signature
Mutations reflect the net effects of myriad types of damage, replication errors, and repair mechanisms, and thus are expected to differ across cell types with distinct exposures to mutagens, division ...
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Joe Hanly @hanliconius.bsky.social · 30/05/2025
While helping out on a cool genomics project recently, I came to realise I’d been taught a pretty big inaccuracy about the events that occur at fertilization. I suspect that almost everyone reading this has the same misapprehension, so let’s do some learning together: 1/
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Geoffrey Maher @geoffreymaher.bsky.social · 27/05/2025
Nice work @educalpena.bsky.social
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Geoffrey Maher @geoffreymaher.bsky.social · 16/05/2025
This is an amazing talk on the role of somatic mutation and repeat expansion in an inherited genetic disease
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Simon Fisher @profsimonfisher.bsky.social · 02/05/2025
Remember when you first learned about genetics at school? All those fascinating examples of human traits that are each apparently determined by just a single gene? Time to check in on some of your favourites to see how they’re doing. 🧬🧵🧪 1/n
Four images to illustrate some prominent single-gene myths. Top left shows a photograph of a person deftly rolling their tongue into a U-shape. Top right shows a photograph of a person’s ear, highlighting the shape and features of the earlobe and cartilage. Bottom left shows a close-up photograph of a person’s eye, with a vivid blue colouration. Bottom right shows a photograph of a person poised to write with their left hand on the blank white page of a spiral-bound notebook.
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inversion.bsky.social @inversion.bsky.social · 23/04/2025
Long-read sequencing of large pedigrees is an ideal way to map all classes of denovo mutations! A collaboration between University of Utah, University of Washington, and PacBio. Glad to be a part of this project 👏 www.nature.com/articles/s41...
nature.com
Human de novo mutation rates from a four-generation pedigree reference - Nature
Analysis of more than 95% of each diploid human genome of a four-generation, twenty-eight-member family using five complementary short-read and long-read sequencing technologies provides a truth set t...
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John Greally @greally.bsky.social · 24/03/2025
Delete your 23&Me data. A bankrupt company is at risk of losing control over what happens to its assets. If your genome is such an asset, your genome could end up somewhere you would never have agreed to in the first place,
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Miguel Branco @brancolab.bsky.social · 21/01/2025
We are hiring! 3-year BBSRC-funded postdoc position available. TEs, epigenetics, pregnancy: if you love one or more of these keywords, apply through the link below. Please spread the word.
qmul-jobs.tal.net
Postdoctoral Research Associate - QMUL Jobs
ID: 4897. Title: Postdoctoral Research Associate . Application Deadline:
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Samantha L Wilson, PhD @samanthalwilson.bsky.social · 09/12/2024
Very proud of my grad students for putting together this comprehensive review on cell-free placental DNA. We found that reviews on the topic focus on clinical utility. Here we focus on basic science of cell-free placental DNA, what we know and current knowledge gaps journals.plos.org/plosgenetics...
journals.plos.org
Cell-free placental DNA: What do we really know?
Author summary Cell-free DNA are fragments of free-floating DNA released by cells into blood circulation. During pregnancy, the placenta releases cell-free placental DNA (cfpDNA) into maternal blood c...
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Reposted by Geoffrey Maher
Molly Przeworski @mollyprz.bsky.social · 05/12/2024
Most of the talks from our Oct meeting are now online, with a few more to come: www.precisionmedicine.columbia.edu/videos
precisionmedicine.columbia.edu
Video Library | Precision Medicine
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Veera Rajagopal @doctorveera.bsky.social · 01/12/2024
I was reading about the genetics of ovarian aging, particularly on the link between breast cancer genes and age at menopause. The below plot is from a 2021 study that looked into rare variant associations with age at natural menopause using exome data of 50k women in the UK Biobank. 1/
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Aurélien Courtois @aureliencourtois.bsky.social · 28/11/2024
Our (Turner lab.) latest preprint is out! 🐭🧬We show that sex chromosomes regulate the transcriptional and developmental landscape of the mouse preimplantation embryo. www.biorxiv.org/content/10.1...
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Matthias Nau @matthiasnau.bsky.social · 30/10/2024
Want to make beautiful scientific figures? Easy! The NIH released a library of 2000+ free scientific illustrations called *BioArt*. Check it out! bioart.niaid.nih.gov #AcademicSky #PsychSciSky 🧠🟦 🧪
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Teif lab @teiflab.bsky.social · 14/11/2024
go.bsky.app/JrBCuad
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Nicky Whiffin @nickywhiffin.bsky.social · 08/04/2024
Super excited to have this out! 🥳 We identify RNU4-2 as a new neurodevelopmental disorder (NDD) gene. We estimate that variants in an 18 bp region of this non-coding RNA explain ~0.4% of all individuals with NDD 😮 Led by a super talented DPhil student Yuyang Chen 🌟 🧬🖥️
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