Stephanie Efthymiou, PhD FHEA🇨🇾🇬🇧
@StephanieEfthy1
Followers
598
Following
1K
Media
36
Statuses
244
Senior Research Fellow at Queen Square. Proud member of the Houlden lab @IonSynapse Leventis Scholar Passionate about EDI 🙎🏻♀️🙍🏽♂️✋🏿✋🏽✋🏻🌈♿️
London, England
Joined April 2020
Honoured and happy to receive such kind words from collaborators 🤝
The team of @StephanieEfthy1, @IonSynapse & Reza Maroofian are great collaborators! They have a huge (bottomless?) cohort of, mostly recessive, RD neuro patients. If you have an AR candidate gene, ask them! They likely have another patient… 🧬 👌 #OneRDGeneAtATime
3
0
14
During their recent trip to Pakistan, Professor Henry Houlden & Dr Karen Gunanayagam met with patients and collaborators, delivered Neurogenetics training to local teams, and attended the Society for Novel and Rare Diseases Summit 2025 in Lahore. 🇵🇰 @UCLIoN @UCLBrainScience
1
5
24
If you are a variant curator or involved in Medical Genetics and have access to genetic data please consider collaborating with @drbarbaravona 👇
👂👓Calling Hearing & Ocular Genetics Professionals! We are exploring how functional data is used to interpret VUS in hearing loss and ocular disorders. If you're involved in variant interpretation, your expertise is invaluable! 👉
0
1
4
Had a great time attending #ASHG2025 in Boston, this year with my little boy 👶🏼 Loved catching up with old friends and colleagues, and getting new knowledge and discussions with inspiring scientists 🧬
0
0
21
The true mark of a teacher’s success is when students don’t just learn from us-they rise beyond us. That’s not failure, it’s the highest form of impact. So wise @alan_michael_p @dosborn1979
0
2
12
🎉 Huge congratulations to Dr. Busra Aynekin and Dr. Umran Yaman for receiving presentation awards at the Turkish Neuromuscular Diseases Congress in İzmir! 👏👏 A fantastic recognition of their hard work and contributions to the neuromuscular field. 💪🧠✨
1
3
10
It has been an absolute joy having you in the lab Zane Lim. You brought energy and dedication to your project and I am sure your efforts will be rewarded. I have no doubt you will excel in your next steps, I wish you every success with your applications to graduate school 🧬
1
0
6
Honored to attend the Jack Bear Foundation fundraising event last week. Meeting Jack who presents with a rare form of ataxia reminds me why we do this work, fighting for therapies that truly make a difference. Very excited to start on our project 💛 #RareDisease #AtaxiaAwareness
0
4
11
Excited to be in Chicago this week to connect with collaborators and meet with rare disease patient groups. Always inspiring to see science and community come together to push the field forward. #RareDisease #Genetics #Collaborations
0
0
10
It is a privilege to contribute to the advancement of genomic innovations for rare disease expert centers across Europe, including in my home country, Cyprus
🌍 Over 150 participants from 30 underrepresented countries joined the first #ERDERA Jamboree in Prague & online! The event spotlighted inclusion in #RareDisease diagnostic research & the need for equitable access to innovation. 🔗 Read more: https://t.co/OWfjaRNfvK
0
0
4
Its been inspiring to meet so many neuroscientists at the @EPNSnews Congress in Munich, both old and new colleagues and friends interested in child neurology, genetics and neuroscience 🇩🇪 🧬
0
2
8
Read all about the biggest TRMT1-related NDD patient cohort where loss of tRNA modifications cause disruptions in cell cycle and immune response leading to neurodevelopmental deficits evident in human cells and zebrafish!
Our lab characterises the autosomal recessive TRMT1-related neurodevelopmental disorder through a large cohort, patient cells, and zebrafish—linking defective tRNA methylation to intellectual disability and expanding the emerging group of "tRNAopathies". https://t.co/OqeGrDzIbL.
0
0
7
So proud to host the first NARS1 Patient Day this week, we had a very engaging day with research updates from our team, interactive discussions with families, and introducing the Foundation to the lab and the work we are conducting to develop future therapies at the @UCLIoN
It was a pleasure to host families from around the world @UCLIoN for NARS1 Patient Day, which was an opportunity to share the latest research, including iPSC-based studies, and connect with parents of those affected by NARS1-related disorders. @UCLBrainScience #RareDisease
0
5
13
Earlier this year we held the first global #NARS1 family meeting with the The Rory Belle Foundation where the Board shared updates on the research progress made and the recent funding awarded, also to our team to generate iPSC neuronal models 🧬 2025 will be exciting for NARS1!
0
2
17
For #RareDiseaseDay2025, @IonSynapse is celebrating the invaluable contributions of our international collaborators, whose dedication is driving ground-breaking advancements in rare disease research across the globe. https://t.co/9f6rtd9kzV
0
11
14
Renee Lin from my team and Prof Paola Nicolaides presenting a genetic and clinical overview from 162 NCBRS patients at the @BPNA_org #BPNA2025 conference @ncbrsfoundation @IonSynapse 🧬
0
1
10
TRMT1 & TRMT1L modify tRNAs, essential for protein production. Their modifications are crucial for tRNA stability & function. Biallelic TRMT1 variants are linked to intellectual disability, while TRMT1L variants lead to a recessive neurodegenerative disorder. Check our new paper!
TRMT1L-catalyzed m22G27 on tyrosine tRNA is required for efficient mRNA translation and cell survival under oxidative stress
0
5
16
Come and join the lab! we have a position available to work on the analysis of short and long-read DNA and RNA sequencing from patients with repeat expansion diseases https://t.co/Z7beq78W9R
#RepeatExpansionDisorders #RepeatExpansions #C9orf72
0
9
13
7. Nöromuskuler hastaliklar kongresi bugün genetik kursuyla Nevşehir Avanos'da başladı. Kongre de Henry Houlden de çok güzel bir konferans verdi.@IonSynapse @MDC_IoN_UCL @StephanieEfthy1 @RMaroofian @HenryHoulden
0
2
27
Well done Dr Natalia Dominik, well deserved PhD & I am very proud of all your hard work 👏🏻 always a pleasure working with you in the lab & being your supervisor (my first PhD student 🥰) @IonSynapse @natalia_dominik lovely to see you guys #maternity #babyGeorgeatQS
2
4
25
Read all about our novel findings relating to the genetics, biochemistry, and molecular biology of TRMT1-linked ID and NDD syndrome. A great collaboration between our lab @IonSynapse and the @dragonyFu lab and @varshneylab 🧬
Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder https://t.co/ZeoBh1xkmK
#medRxiv
0
4
19