Genomics and other matters...

Joined April 2013
104 Photos and videos
I’ve updated the blog on our website to more accurately report the timelines associated with the work in the paper   bit.ly/GDF15_NVP_HG_Blog

🔬 Scientists have made a breakthrough in discovering why pregnant women get morning sickness. The hope is this discovery could lead to a cure for the most severe cases. Professor Sir @StephenORahilly and Charlotte Howden, CEO @HGSupportUK join @JessCreighton1 to discuss ⬇️
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Just before the end of the year, we initiate the Twitter account for our brand-new lab at the @IIBmCSICUAM. Starting the Pharmacogenomics and Tumor Biomarkers Group @PGx_IIBM is a very exciting moment, and a challenge at the same time.
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22 Dec 2023
We describe de novo intellectual disability monogenic syndromes from the Indian population in the journal @ejhg_journal published by @SpringerNature. Congratulations to the lead fellows who put this together @ShrutiPande6 and @MajethiaPurvi @GeneticsManipal
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Look at the new resource on genetics of Movement disorders, neurodegenerative diseases and neurocutaneous syndromes at web.xpeer.app/web/en/courses…$ Free to register @eshgsociety @eshg_young @EPNSnews

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Replying to @Unique_charity
Unique CEO Dr Sarah Wynn explains why investing in a new database is so vital to continuing our work supporting children and adults affected by chromosome and gene disorders. Click here to donate justgiving.com/campaign/uniq… Thank you for your support #genetics #raredisease
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Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype - by ⁦@RobHarkness96⁩ ⁦@RayOKeefeIII⁩ ⁦@EGS_UoM⁩ ⁦@mft_iMRare⁩ ⁦@GenomicsEnglandsciencedirect.com/science/ar…

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21 Dec 2023
Calling all #cardiology professionals in the North West! Join us for a cardiology #genomic study day on 28/2/2024. More info available here: bit.ly/CGSD24 @GeneticBill @RhysBeynon73
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Looking for a new exciting role for 2024 . We are seeking a skilled and enthusiastic Support Specialist to help promote DECIPHER. Apply for this part time role at: embl.org/jobs/position/EBI02… x.com/decipher_wtsi/status/1…
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"The main reason I wanted to get involved with research was a strong desire to improve services not just locally but influence service care more broadly, my desire to influence that change remains just as strong today...." Dr. Paul French. #SPDMC (Research Council)
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Fantastic @ManchesterBRC #rareconditions theme Xmas seminar with groundbreaking work from @rob_wynn_TdF @adam_jackson89 @TWright_GenomeX @EGS_UoM @mft_iMRare
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Academic clinician–scientists risk becoming an endangered species. World View from @StephenORahilly @Cambridge_Uni nature.com/articles/s41591-0…

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Huge congratulation to Elijah Behr, Professor of Cardiovascular Medicine at St George’s, University of London and Honorary Consultant Cardiologist at @StGeorgesTrust who has been awarded Hero of the Year at @TheBHF’s Heart Hero Awards 2023. Learn more: sgul.ac.uk/news/professor-el…
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Opportunities for #pharmacogenetic panel testing to guide treatment selection across a person's lifetime. Great example from the PROGRESS PGx study @JessicaKPharma1 @NHSgms
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Many congratulations
Got to wear a floppy hat today!
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Much appreciated feedback, @Ddysmo. Thank you. For any whipper-snappers, @Ddysmo is genetics royalty. She was discovering new syndromes and mapping genes when you were still in short trousers. These words could not have come from a wiser voice....
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As a non-genomics expert, I was really moved by this! Parallels to digital health where we are often swept away by tech hype, rather than evidence. Just because we can, doesn't mean we should... @sairaghafur @BeyerKathrin @NielsPeek @Mattbklee @MustBeMistry @UoMPankhurst
If you're involved or interested in clinical genetics - immediately stop what you're doing and read this. A brilliantly thoughtful piece in @TheLancet considering costs/benefits/implications of population screening and genomics.
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If you're involved or interested in clinical genetics - immediately stop what you're doing and read this. A brilliantly thoughtful piece in @TheLancet considering costs/benefits/implications of population screening and genomics.
Today in the @TheLancet, we UK geneticists argue: "Population screening requires robust evidence—genomics is no exception" @annekeluc, @HelenVFirth, @GeneticBill, @carolinefwright, @mgtmccartney, @wilkie_lab, @RobinLachmann,@group_tomlinson,@lucymedgen authors.elsevier.com/a/1iD4W…
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Today in the @TheLancet, we UK geneticists argue: "Population screening requires robust evidence—genomics is no exception" @annekeluc, @HelenVFirth, @GeneticBill, @carolinefwright, @mgtmccartney, @wilkie_lab, @RobinLachmann,@group_tomlinson,@lucymedgen authors.elsevier.com/a/1iD4W…

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5-point plan announced @10DowningStreet to reduce #immigration x.com/10DowningStreet/status… If implemented sooner would've impacted 9 in my team😟 Our #academic team #FoulkesAward2021 #RSCrickAward2021 #JosefSteiner2019 In 10 yrs, we hailed frm 18 countries to serve #NHS & UK science
The level of net migration is too high. Today we’re announcing a new plan to reduce immigration and curb the abuse of our visa system. Here is what we're doing 🧵👇
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Very excited to announce our study in to adults with KBG Syndrome is now OPEN! Please spread the word so that all eligible families find out
The University of Bristol in the UK, in collaboration with the KBG Foundation, is conducting a study to further understand KBG syndrome in adults. To participate, KBG patients aged 16 or above should complete this online survey: redcap.link/KBG.Study Open until Feb 12, 2024
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