Amy Gerrish (@AmyGerrish) header
Amy Gerrish (@AmyGerrish) profile picture

Amy Gerrish

@AmyGerrish

Genetics, Gin, Giraffes. Research Scientist @WMRGL @BWC_NHS. A ❤️ of non-invasive diagnostics

Joined February 2012
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Photo by Amy Gerrish (@AmyGerrish)Photo by Amy Gerrish (@AmyGerrish)Photo by Amy Gerrish (@AmyGerrish)Photo by Amy Gerrish (@AmyGerrish)Photo by Amy Gerrish (@AmyGerrish)Photo by Amy Gerrish (@AmyGerrish)Photo by Amy Gerrish (@AmyGerrish)Photo by Amy Gerrish (@AmyGerrish)Photo by Amy Gerrish (@AmyGerrish)Photo by Amy Gerrish (@AmyGerrish)
Huge thanks to @ChectUK @fightforsightUK @BWC_NHS and @wellcometrust for funding this work since 2017.
Amy Gerrish (@AmyGerrish) profile pictureAmy Gerrish@AmyGerrish22 Apr 2024
Excited to share with you all our new publication on the genetic diagnosis of retinoblastoma using aqueous humour. Seventy five samples analysed from 68 patients treated @BWC_NHS. Read along below for the highlights. @ChectUK @fightforsightUK mdpi.com/2072-6694/16/8/1565
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort

Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort

The identification of somatic RB1 variation is crucial to confirm the heritability of retinoblastoma. We and others have previously shown that, when tumour DNA is unavailable, cell-free DNA (cfDNA)...

mdpi.com
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Excited to share with you all our new publication on the genetic diagnosis of retinoblastoma using aqueous humour. Seventy five samples analysed from 68 patients treated @BWC_NHS. Read along below for the highlights. @ChectUK @fightforsightUK mdpi.com/2072-6694/16/8/1565
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort

Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort

The identification of somatic RB1 variation is crucial to confirm the heritability of retinoblastoma. We and others have previously shown that, when tumour DNA is unavailable, cell-free DNA (cfDNA)...

mdpi.com
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However aqueous humour collected by anterior chamber tap after 1-2 cycles of chemotherapy provided enough cfDNA in all 11 cases and the detection of both causal variants in 10/11 patients.
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Our study therefore shows that aqueous humour derived cell-free DNA can be used for the genetic diagnosis of retinoblastoma, using as little as 250pg of DNA. However sampling early in treatment is likely to be required for successful testing.
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Identifying the genetic cause of retinoblastoma has multiple benefits for patients and their family. In our previous proof of principle study (PMID: 31676598) we showed that cell-free DNA from aqueous humour can be used to detect pathogenic variants in retinoblastoma patients.
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Big moments this week. Paper two years in the making finally submitted and two new members of the R&D team recruited @WMRGL. Have to agree with Mr Craig…
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Replying to @theepicmap @Locati0ns
What the world really looks like.
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❤️ Kidney transplant: Three-year-old is smallest patient bbc.co.uk/news/uk-northern-i…
Kidney transplant: Three-year-old is smallest patient

Kidney transplant: Three-year-old is smallest patient

Olly Cartmill was 13kg when he had the life-saving operation, getting a kidney from his grandmother.

bbc.co.uk
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Major service development today @WMRGL, 7 years in the making! So celebrating with a Tuesday tipple 🍹
Image from Amy Gerrish (@AmyGerrish)
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Very interesting meeting in Essen with the CoBioRb consortium. Many productive discussions between clinicians and biologists around #retinoblastoma biomarkers. Thanks to Petra for the organization, to all the participants, and to #FightKidsCancer for supporting the project!
Image from European Retinoblastoma Group - EURbG (@EuropeRbG)
Image from European Retinoblastoma Group - EURbG (@EuropeRbG)
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Back from a couple of productive days with the CoBioRb consortium in Essen. A really important @EuropeRbG collaborative funded by @ESF_news FKC to identify prognostic biomarkers in retinoblastoma. Looking forward to the next 18 months and beyond!
Image from Amy Gerrish (@AmyGerrish)
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Thanks to my travel companion @HelenJenkinson9 for representing the clinical side of @BWC’s retinoblastoma team
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Sad to be missing #SIOP2023 (meeting clash) but the fantastic Gerard Millen will be there, presenting our @BWC_NHS data on the diagnosis of retinoblastoma using ocular fluid. Catch him on Saturday! @WMRGL @WorldSIOP
Guillermo Chantada (@gchantada) profile pictureGuillermo Chantada@gchantada10 Oct 2023
Just one day to go! A great @WorldSIOP meeting in Ottawa. #SIOP2023. MEET YOU THERE
Image from Guillermo Chantada (@gchantada)
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Home after a whirlwind 4 days @isgedr, São Paulo. Great to meet so many rb colleagues, particularly from outside Europe. Looking forward to two years time although it will have a lot to live up to, particularly the Conference Dinner 💃🕺
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At Heathrow waiting for my flight to Sao Paulo for @isgedr. Any fellow eye geneticists/retinoblastoma clinicians, let me know if I’ll see you there!
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Thanks for the invitation to speak
Ashwin Reddy (@childrenseyes) profile pictureAshwin Reddy@childrenseyes24 Jun 2023
⁦@AmyGerrish⁩ speaking ⁦@EuropeRbG⁩ yesterday. Impressive work
Image from Ashwin Reddy (@childrenseyes)
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