Fiona Togneri

NHS Genomic Scientist, wife and mum..not necessarily in that order

[Fiona Togneri @TogneriFiona]

So grateful of the very generous colleague who took the time to make this nomination @BWC_NHS @WMRGL

[Fiona Togneri @TogneriFiona]

@KirstenMckayYay @acgs_news @AnitaLuharia Yes!! Game changer :) xx

[Fiona Togneri @TogneriFiona]

Thank you to the organising committee @hellord13 @acgs_news for a fabulous meeting! #acgs2022 so lovely to be back face to face. A thoroughly enjoyable day 😊

[Fiona Togneri @TogneriFiona]

@waitrose we’re all so missing your pink grapefruit & apple and mango squash! Especially in this hot weather. Any ideas on when / if it will return? :)

[Professor Dame Sue Hill @CSOSue]

Fantastic to see more examples how how #Genomics is transforming patient care. This non-invasive pre-natal diagnosis for retinoblastoma rolled out by @NHSEngland will help with earlier diagnoses, faster treatment and help families prepare.

https://t.co/USkQgCI793

[Fiona Togneri @TogneriFiona]

@KirstenMckayYay A massive loss to our profession but I’m very excited for you! Loved my time at UofG and I’m sure you’ll be fab and inspire many xx best of luck and hope you enjoy the adventure xx

[Fiona Togneri @TogneriFiona]

@JamesFasham @WMRGL @KempseyPrimary @ScienceWeekUK Wish I could take the credit!! From @PureGeek2018

[Fiona Togneri @TogneriFiona]

My mini geneticist helping me prepare for next weeks STEM event with @WMRGL for @KempseyPrimary on @ScienceWeekUK #BWS22 #STEM #Genomics

[Fiona Togneri @TogneriFiona]

#TEAMWMRGL @savechildrenuk @WMRGL Festive fun in the office @BWC_NHS

[Fiona Togneri @TogneriFiona]

An exciting update from Tommy’s on their campaign to change miscarriage care https://t.co/SrPwe0sSO0

[Fiona Togneri @TogneriFiona]

Strong girls together #stronggirlsclub #NewProfilePic

[Lando Norris @LandoNorris]

Head high, my time will come

[The DECIPHER Project @deciphergenomic]

Links to Treatable ID (https://t.co/P9fxYMD4eh) are now displayed on gene pages. This alerts users to possible therapies for inherited metabolic disorders which are causally related to Intellectual Disability

[Fiona Togneri @TogneriFiona]

@IamPhilippaMay Massive congratulations 🥳

[Fiona Togneri @TogneriFiona]

@savatt_juliann Genome Connect Registry is such a neat solution for helping patient genomic data interpretation remain up to date! Great presentation #CCG2021

[Fiona Togneri @TogneriFiona]

@MPishvaian loving the term disproportionate benefit and inspired by your real life patient stories #CCG2021

[Nicky Whiffin @nickywhiffin]

It is always nice when a paper high up the to-read list is presented at a conference 🙃
On this occasion, Robert Kopajtich on efforts to look for both RNAseq and proteomics expression outliers to aid diagnosis of Mendelian disorders #CCG2021
Preprint: https://t.co/4jaFnft5AB

[James Fasham @JamesFasham]

Many thanks @SMoorthie @PHGFoundation at #CCG2021 raises important points re PRS.

1) PRSs as currently designed are an ASSAY
2) The question / TEST is often not defined
3) Without this clinical utility cannot be ascertained

This document is timely:
https://t.co/QCPYN7tEYF

[Fiona Togneri @TogneriFiona]

Definitely convinced that we need to think more about RNA in our diagnostic labs. What great work. Excited to hear about the ongoing Genomics England Transcriptomics pilot. Diana Baralle #CCG2021