Rare Disease @ Leeds

Rare Disease Genetics and Genomics research at the University of Leeds. Tweets by @jamesapoulter.

[Rare Disease @ Leeds @LeedsGenomics]

Nice feature about recent work published from @ThePoulterLab describing a new genetic disorder due to a recurrent de novo mutation in the MAX gene. @jamesapoulter @LIMRLeeds

[Christopher Watson @ChrisM_Watson]

A new @NEYGenomics vacancy to work on genomics R&D projects in the NHS. A great opportunity to join the NEY GLH and work @LeedsHospitals. Please note the rapidly approaching closing date of the 14th February.

[James Poulter @jamesapoulter]

Great start to 2024 with our publication describing a recurrent de novo in MAX associated with a syndromic form of macrocephaly and polydactyly in @AJHGNews. Thanks to all our collaborators who contributed to this work and funding from @UKRI_News. https://t.co/xEE6fBpiXb

[James Poulter @jamesapoulter]

Very happy to see this review published, co-authored by two fantastic PhD students from @ThePoulterLab.

D-Type Cyclins in Development and Disease https://t.co/ixzEsUUZy3 #mdpigenes via @Genes_MDPI

[North East & Yorkshire Genomics @NEYGenomics]

We're looking for input from patients and the public to help improve user experience on our website, raising awareness about the positive impact of genomics on people’s lives.

Please consider taking part in our online workshop and share with others too: https://t.co/cFGjnXNMqr

[Genetics in Medicine @GIMJournal]

De novo missense variants in RRAGC affecting MTORC1- and TFEB-signaling cause an early #mTORopathy with unfavorable prognosis #mtor #cardiomyopathy #corticalmalformation https://t.co/sm3BXb1QIt

[James Poulter @jamesapoulter]

Excited to be speaking about the human brain on the 24th May at the Nation of Shopkeepers in Leeds for @pintofscience #Pint23 @NeuroLeeds. See the full line up and buy tickets here: https://t.co/Ja9qBWUVFh

[Rare Disease @ Leeds @LeedsGenomics]

A new #RareDisease paper from @jamesapoulter from @ThePoulterLab identifying and characterising de novo missense mutations in RRAGC as a cause of a fatal mTORopathy of early childhood.
https://t.co/0C9RBe4vxo

[James Poulter @jamesapoulter]

Great to see this paper out from @ChrisM_Watson and @LeedsVRG on the use of long-range @nanopore sequencing to verify and characterise large deletions identified from exon-based short-read sequencing. @LeedsGenomics #nanopore #RareDisease https://t.co/68rvB8QhKB

[Rare Disease @ Leeds @LeedsGenomics]

Fantastic to see this article on the lessons learned from analysis of the ciliopathy cohort in the 100,000 Genomes Project by @SunaynaBest @johnsoncilialab @LeedsGenomics

[Sunayna Best @SunaynaBest]

Delighted to see our commentary article in AJMG discussing lessons learned from analysis of the 100,000 Genomes Project ciliopathy cohort ⁦@GabrielleWheway⁩ ⁦@MrGenePoole⁩ ⁦@johnsoncilialab⁩ ⁦@ChrisM_Watson⁩ ⁦@GenomicsEngland⁩ https://t.co/AEE9WcZU4y

[Rare Disease @ Leeds @LeedsGenomics]

@GeneticBill @PALOH_Study @nwgmsa @NHSgms Thanks for coming across @GeneticBill - a fantastic talk and exciting to hear about how pharmacogenetics is being integrated in to everyday clinical practice.

[Rare Disease @ Leeds @LeedsGenomics]

And here's another one from @LeedsGenomics, out last month. Comparative proximity biotinylation produces an inventory of RAB18-interactions and implicates RAB18 in cholesterol mobilization in @biorxivpreprint #rarediseases https://t.co/bEFHjDcYJJ

[Rare Disease @ Leeds @LeedsGenomics]

Some exciting new research on Oguchi disease from an international collaboration led by @jamesapoulter and @MrGenePoole from @LeedsGenomics @LeedsMedHealth out today.

[James Poulter @jamesapoulter]

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease. My latest paper with @Molly_Gravett and @MrGenePoole, to name but a few. Preprint available @biorxivpreprint #rarediseases https://t.co/8lYbTsSZ5X

[Rare Disease @ Leeds @LeedsGenomics]

@jamesapoulter from @LeedsGenomics be running the #York10K to raise money for @GeneticDisUK and #GenesforJeans. If you would like to donate then please click on the following link to go to his fundraising page: https://t.co/yJlBab7rdU

[James Poulter @jamesapoulter]

On the 4th August I'll be running the York 10K for @GeneticDisUK to raise money to support individuals and families affected by genetic disorders. Any donations towards this great charity would be greatly appreciated! #jeansforgenes #York10k #rarediseases https://t.co/q9woxrsFmh

[Rare Disease @ Leeds @LeedsGenomics]

New paper co-authored by researchers from @LeedsGenomics.
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.
https://t.co/czV49cH5bi

[Rare Disease @ Leeds @LeedsGenomics]

Fascinating paper using image analysis to assist in disease variant identification.
PEDIA: prioritization of exome data by image analysis.
https://t.co/4WU55dsDLo

[LTHT Clinical Genetics Research @LeedsClinGenRes]

1 day to go! Come to Bexley Wing, St James Hospital tomorrow to support @rarediseaseday 2019! Grab some info about #RareDiseaseDay & Rare Disease research. Our colleagues from @LTHTBioResource will be there too with info about how to get involved. #ShowYourRare 🧬

[LTHT Clinical Genetics Research @LeedsClinGenRes]

One week to go!! #rarediseaseDay

[LTHT Clinical Genetics Research @LeedsClinGenRes]

It's @rarediseaseday next Thursday, and we'll be at a stand in Bexley Wing, St James Hospital! Come and grab some information about RDD, and talk to us about the rare disease studies available to Yorkshire patients #RareDiseaseDay #ShowYourRare #GeneticsResearch #Leeds 🧬

[Rare Disease @ Leeds @LeedsGenomics]

@GenSocUK is celebrating its centenary year - go and celebrate on international Mendel day, 8th March, at the RI! https://t.co/t9RfJO3K8N