Geoffrey Maher
@GeoffreyMaher
Genetics researcher interested in germ cells and trophoblastic disease @ImperialSandC @ImperialMed
Check out this overview of our labs new paper in @eBioMedicine spearheaded @ChristinaZarou revealing novel mechanistic insights into a common age-related cause of visual loss #OpticalGenomeMapping #RepeatExpansions
New study in @eBioMedicine reveals important insights into the mechanisms behind Fuchs Endothelial Corneal Dystrophy (FECD), offering hope for future therapeutic developments and insights into other neurological diseases. 🔗tinyurl.com/48v9msmc @aliceedavidson @ChristinaZarou
Did you know placental cells can develop into tumours months to decades after a pregnancy? If you are interested in using genomics to understand the molecular mechanisms of these rare tumours and identify clinical biomarkers, check out our postdoc position imperial.ac.uk/jobs/search-jo…
Free scientific illustrations for biologists! 😍 @NIH has released a library of 500+ free scientific illustrations to create figures, presentations, and illustrations! all freely available in the public domain. Retweet and spread the message! bioart.niaid.nih.gov
See our paper in GIM here. If you publish on variants, PLEASE use variantvalidator.org, or even better, just submit them to ClinVar before article submission (you can request a 6 month embargo), to both validate your variant naming AND make them findable by all!
GIM's Senior Technical Editor Peter Freeman collaborated with other experts on "Standardizing variant naming in literature with VariantValidator to increase diagnostic rates", now available in Nature Genetics bit.ly/3BF83On
Are you interested in transposons, placental biology, epigenetics and pregnancy? The advert is out for a postdoc position in my lab at King's College London, Guy's Campus - closes July 14th: kcl.ac.uk/jobs/091130-po…
Interested in RNA therapies for rare disease? sign up for our upcoming @UpNAT_node symposium
An impressive line-up of speakers confirmed for the upcoming UPNAT Symposium! Full details below. Registration is open, 27 June in person at UCL Institute of Child Health eventbrite.co.uk/e/uk-platform-…
Great quote @ksamocha #eshg2024! average of 7 pathogenic variants per individual in @gnomad_project v4. Mostly for AR conditions but 734 LoF variants in 77 haploinsufficient genes. Dig deeper and 70% do not truly result in LoF: manual #curation important!
When I thought I was done with the GWAS stories of 2023 and I should wrap up, @StephenORahilly dropped yet another great paper from his team. How can I resist? It's storytelling time. In this hot-off-the-press Nature paper, @DrFejzo et al. uncover an absolutely fascinating…
Great to see this coming out today nature.com/articles/s4158… Thanks to all the collaborators who made this happen. If you are interested to read more please see this blog bit.ly/GDF-15_HG_Blog/
Come join us in Dublin! Funded 4-year PhD studenship at Trinity College Dublin in computational biology. ☘️🦠@tcdgenmicro More details at bioinf.gen.tcd.ie/leathlobhair-l…. Retweets appreciated.
A fascinating tale of germline mutations masquerading as somatic mutations in the brain cells of epileptic patients. Miller, Heinzen, Bedrosian et al. Nat Gen nature.com/articles/s4158… It was a widely held belief in the past that the DNA sequence of every cell of the human body…
Check out our new paper reporting a meiotic origin of chromosome 1q copy number gains in epilepsy with a distinct clinical presentation including cytoplasmic hyaline astrocytic inclusions. All possible because of our fantastic collaborative group! rdcu.be/dphgS
A very nice disease primer on imprinting disorders by Eggermann et al. with some cool illustrations @DiseasePrimers nature.com/articles/s4157…
Similar to Online Mendelian Inheritance in Man (OMIM), there is Online Mendelian Inheritance in Animals (OMIA) that apparently existed for 25 years! and I am learning about it only now. Website: omia.org onlinelibrary.wiley.com/doi/epdf/10.11…
Last week we celebrated 50 years of our Gestational Trophoblastic Unit at Charing Cross Hospital 🎉 Our internationally renowned GTD team are world leaders in the investigation and treatment of these rare conditions. Thank you to all staff involved 💙 @a_xianne @ImperialNHS
Two of the Wilkie lab are at #eshg2023 in Glasgow, and presenting today! 🧬 Yang is speaking in the Forth room at 10:45 talking about complex structural variants & sequencing. 🧬 Dagmara is in poster hall 4 at 10:57 talking about mouse models and iPSCs - be sure to say hello!
Back to the daily grind after a great EOTTD meeting in Warsaw discussing all things gestational trophoblastic disease
Looking for a postdoc position in human genetics/de novo mutations/germ cells? Then this position is highly recommended (from someone who's had the privilege of doing a postdoc in the @GorielyLab lab)
Come join us as a Postdoctoral Research Assistant in Molecular Genetics and be involved in cutting edge research investigating the origins of new mutations in the male germline 🧬 closing date to noon on 9/6. For more info see job description and/or drop us @AGoriely an email!
Recruiting! 5 year @CRUKresearch funded postdoc at Imperial (@ImperialSandC) to study gestational cancer immunology. How does this allograft evade the immune system? Why is it so sensitive to pembro? Read on and RT #sciencejobs @LucyWalkerlab @QuezadaLab bit.ly/3HAe3YM
Proud to have played a small part in this great study that provides personalised risk of recurrence to parents who had a child with a pathogenic de novo mutation.
Our latest paper is out! Introducing the #PREGCARE (PREcision Genetic Counselling And REproduction) study - published with @SpringerNature @NatureComms - which demonstrates a transformative vision for precision reproductive genetic counselling: rdcu.be/c5HaG 🧵
At the end of a great @GeneticsSociety #ASHG22, I wanted to share & get feedback on my "cheatsheet" of online resources, tools, and databases. This was developed with @capra_lab collabs 🙏and at VUMC medical genetics. Please comment/message to add 💡! docs.google.com/document/d/1QS…
Found a vertebra washed up on a beach on the south coast of Ireland - anyone have an idea what animal it’s from? @IrelandsEnviro @RebeccaRHelm
