Amy Gerrish

Huge thanks to @ChectUK @fightforsightUK @BWC_NHS and @wellcometrust for funding this work since 2017.

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.

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.

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…

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.

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…

@Locati0ns What the world really looks like.

❤️ Kidney transplant: Three-year-old is smallest patient bbc.co.uk/news/uk-northe…

Major service development today @WMRGL, 7 years in the making! So celebrating with a Tuesday tipple 🍹

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!

Thanks to my travel companion @HelenJenkinson9 for representing the clinical side of @BWC’s retinoblastoma team

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!

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

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 💃🕺

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!

Thanks for the invitation to speak