Exeter BRC *funded* PhD
in Genetics & Genomics with Exeter Rare Disease

'Discovery & characterisation of rare neurodevelopmental disorders'

exeter.ac.uk/study/funding/…

Contact Emma Baple / Lettie Rawlins (email on site)

👇I did a similar PhD, great supervisors, I'm happy to be contacted

Congratulations to Lettie Rawlins

Winner of #ESHG2023 Isabelle Oberlé award🏅for her talk about KPTN-related disorders

KPTN Alliance Exeter Med School

Lettie Rawlins in Hall 5 #ESHG2023

KPTN-related disorder is an AR mTORopathy with ID, macrocephaly +/- seizures

Treatment with MTOR inhibitors have potential benefit with a window in
Major NIH funding with Univ. of Maryland to explore

Could #genomics improve triage of colorectal #cancer patients? Visit our #ESHG2023 poster at P13.032.D at 3:45 today!

Andy Parrish and Emma Baple Setting the scene for Nanopore rapid WGS testing for acutely ill babies and children ⁦ExeterGenomes⁩ ⁦Exeter Rare Disease⁩ #eshg2023 ⁦South West Genomic Laboratory Hub⁩

Andrew Parrish & Exeter Rare Disease 🧬

Demonstrating how long reads will enable us to provide more diagnoses for acutely unwell children much faster

ExeterGenomes Exeter Med School Oxford Nanopore

Excited to hear about how ExeterGenomes are implementing nanopore sequencing to facilitate rapid diagnosis in patients with #raredisease today #ESHG2023

I'm really excited to be going to my first European Society of Human Genetics (ESHG) conference #ESHG2023 ! Come see my talk on recessive burden testing in 30,000 developmental disorder trios on Monday 11am!

So many great talks and posters below from Exeter Med School to see too!

The poster is up! 🖼️

If you care about rapid identification of new disease gene associations then please visit it at P17.039.C.
Also please follow DiseaseGenes

Presenting it on Tuesday.

James Fasham at #ESHG2023 in Hall 1 sharing valuable insights on how to use social media to maximise reach and impact of your scientific discoveries.
Exeter Med School European Society of Human Genetics (ESHG)

🗣️11 talks and 12 posters by Exeter Med School colleagues at this weekend's European Society of Human Genetics (ESHG) 🧬 meeting in Glasgow

Very excited for the science and networking... less so the 7.5hr train! 🚆

#ESHG #ESHG 23 #ESHG 2023 #genetics #science #health University of Exeter Faculty of Health & Life Sci

Delighted our big DDD paper is now out describing more than a decade of work finding rare genetic disorders. Huge thanks to everyone involved – scientists, bioinformaticians, clinicians, genetic counsellors, research nurses, funders, patients & families.
nejm.org/doi/full/10.10…

Congratulations Dr Dr Fasham! 🎉 🥳 🍾

Fantastic Jacob Day congrats! 🍾

Microtubule minus-end tracking protein CAMSAP1 causes recognizable, #tubulinopathy -like, neuronal migration disorder.

Read our work #OpenAccess in AJHG sciencedirect.com/science/articl…

🧵1/5
#RareDisease #MedicalGenetics #Genomics #Neuroradiology #MorbidGene

Looking for a fully-funded PhD? Interested in links between preterm birth and lung function? Apply for a #PhD studentship in the
GW4BioMedMRCDTP
programme with me
Rachel Freathy, Sailesh Kotecha, Raquel Granell

Royal Devon NHS, Exeter Clinical Laboratory, @sSWGLH & ExeterGenomes very own Andy Parrish is Healthcare Scientist of the Year ✨️🍾🥳!

Firrst bioinformatician to be head of genomics lab in England, informatics excellence & delivery of R14 WGS, all in a days work!

NHS Genomic Medicine Service Suzanne Tracey

It is my privilege to present the amazing work done by ExeterGenomes clinical scientist, bioinformaticians & technologists Exeter Clinical Laboratory, providing much needed #RareDisease diagnoses for acutely unwell babies & children, continuing Sian Ellard's legacy
Royal Devon NHS Exeter Med School

A wonderful collaboration and extremely grateful to my joint first authors Dr. Rim Hjeij and Asaf Vivante for their efforts in making this work possible!