Bill Newman

Genomics and other matters...

[stephen o'rahilly (its pronounced O-RA-hill-EEE) @StephenORahilly]

I’ve updated the blog on our website to more accurately report the timelines associated with the work in the paper

https://t.co/HNPBGwFPlC

[Cristina Rodriguez-Antona @RodriguezAntona]

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.

[Anju @AnjuShukla21]

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

[Bill Newman @GeneticBill]

Look at the new resource on genetics of Movement disorders, neurodegenerative diseases and neurocutaneous syndromes at https://t.co/2F54GkyZPf$
Free to register @eshgsociety @eshg_young @EPNSnews

[Sarah Wynn @swynn_unique]

@Unique_charity

[Bill Newman @GeneticBill]

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 ⁦@GenomicsEngland⁩ https://t.co/u587PQ2KWJ

[NWGMSA @nwgmsa]

Calling all #cardiology professionals in the North West! Join us for a cardiology #genomic study day on 28/2/2024. More info available here: https://t.co/RbEzrhksOa @GeneticBill @RhysBeynon73

[The DECIPHER Project @deciphergenomic]

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: https://t.co/xeDIkBTwpy https://t.co/i9crJj77ES

[Eleanor Hoverd @ejhoverd]

"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)

[Bill Newman @GeneticBill]

Fantastic @ManchesterBRC #rareconditions theme Xmas seminar with groundbreaking work from @rob_wynn_TdF @adam_jackson89 @TWright_GenomeX @EGS_UoM @mft_iMRare

[Nature Medicine @NatureMedicine]

Academic clinician–scientists risk becoming an endangered species.

World View from @StephenORahilly @Cambridge_Uni

https://t.co/J5tnEYlvOQ

[School of Health & Medical Sciences @CityStG_Health]

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: https://t.co/DWJgbt8M5p

[Dr. Raliat Onatade🇯🇲🇳🇬🇬🇧 @Ral_sez]

Opportunities for #pharmacogenetic panel testing to guide treatment selection across a person's lifetime. Great example from the PROGRESS PGx study @JessicaKPharma1 @NHSgms

[Bill Newman @GeneticBill]

Many congratulations

[Adam Jackson @adam_jackson89]

Got to wear a floppy hat today!

[Clare Turnbull- Prof/NHS Dr @clare__turnbull]

@Ddysmo @annekeluc @GeneticBill @HelenVFirth 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....

[Videha Sharma @VidehaSharma]

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

[John McDermott @John_H_McD]

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.

[Clare Turnbull- Prof/NHS Dr @clare__turnbull]

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 https://t.co/Hr60KCUU8g

[Serena Nik-Zainal @SerenaNikZainal]

5-point plan announced @10DowningStreet to reduce #immigration
https://t.co/lrdeE56hFP
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

[Karen Low @drkarenlow]

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