Duncan is a great mentor! If you are interested in doing a PhD in genomics & stats see the link below for a great opportunity π
21.07.2025 21:55 β π 1 π 0 π¬ 0 π 0
Enjoyed the Med Sci DTC symposium yesterday. It was great to share some of my work and catch up with other GMS students π§¬
Thank you @medsci.ox.ac.uk!
14.06.2025 17:59 β π 3 π 0 π¬ 0 π 0
My son Charlie β and the breakthrough that changed our lives
James Coney and his wife, Sarah, struggled not knowing why their 12-year-old was born with a severe learning disability. In their darkest moments, they blamed themselves. Then, out of the blue, came a...
A few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story β€οΈ www.thetimes.com/article/0bcc...
02.03.2025 12:06 β π 111 π 41 π¬ 5 π 6
Research Showcase - cpm
Personalised prevention aims to tailor preventative health strategies to individual characteristics, for example, genetic, lifestyle or environmental factors. The aim is to prevent or delay the onsetβ¦
#january Day 7
Less than a month to go until this yearβs CPM #ResearchShowcase, with a theme of #PersonalisedPrevention!
More details and sign up here, itβs going to be a great day:
07.01.2025 14:43 β π 4 π 4 π¬ 0 π 1
I want to extend a huge thank you to the @nickywhiffin.bsky.social lab for having me this past month to work on various projects using the @GenomicsEngland data. I learned a ton during my time @ox.ac.uk and continue to drink tea at least 3 times per day. Cheers!
17.12.2024 16:12 β π 10 π 1 π¬ 1 π 2
Excited to announce that my F99/K00 fellowship entitled, βA multi-omics approach to understanding pediatric epilepsies,β was officially funded today!
And a huge thank you to @hcmefford.bsky.social for being the greatest mentor ever and always supporting me in these endeavors π§¬π§ Cheers!
18.12.2024 17:04 β π 10 π 2 π¬ 0 π 2
Congratulations to @nickywhiffin.bsky.social on being awarded the Balfour Lecturer! Her innovative contributions on the role of genetic variants in rare diseases are shaping the future of research and discovery. We look forward to her inspiring lecture!
genetics.org.uk/medals-and-p...
22.11.2024 11:09 β π 27 π 9 π¬ 0 π 3
a couple of cartoon characters standing next to each other with one wearing a purple earring
Alt: a couple of cartoon characters standing next to each other with one wearing a purple earring
π£ Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature π£
Co-first authoring with the brilliant Qinqin Huangπβproof that teamwork does make the dream work. πͺ www.nature.com/articles/s41...
20.11.2024 16:03 β π 158 π 47 π¬ 11 π 7
Picture of six people smiling in the snow in the city of Denver
A picture of Yuyang Chen giving a presentation. In the background a large screen has a slide saying "Variants in RNU4-2 cause a neurodevelopmental disorder (ReNU syndrome)". In the foreground, many people sit listening to the talk.
A poster is being presented while others listen.
Back home and reflecting on a fantastic week at #ASHG24.
It was wonderful to reconnect with friends, make new connections, and be surrounded by amazing science! π§¬
This was my first time attending ASHG with many of my amazing team (see below). They did an incredible job representing the group π₯° 1/2
11.11.2024 14:56 β π 18 π 3 π¬ 1 π 0