The Neurogenetics Lab UCL ION

Neurogenetics Lab @UCLIoN led by Prof Henry Houlden | Gene discovery & disease mechanisms in neurological disorders | @LRS_UCL

[Francesca Magrinelli @FraMagrinelli]

Our gene discovery study implicating PSMF1 in early-onset PD and parkinsonism is now online in Nature Communications

🔗https://t.co/2txGrHUeZl

Grateful to an exceptional team and my funders

What is made with patience carries its own quiet gravity

@IonSynapse @kailashbhatia @UCLIoN @UCLIoN_DCMN
@MDC_IoN_UCL @QS_RareMD @MichaelJFoxOrg @ParkinsonsUK @APDAParkinsons @UCLHresearch
#TheDavidPearlmanCharitableFoundation

[Reza Maroofian @RMaroofian]

We previously showed that biallelic variants in OGDH/OGDHL cause variable neurodevelopmental disorders (NDD). Now, we demonstrate that bi-allelic NRDC variants cause a severe NDD — further highlighting the NRDC–OGDH/OGDHL mitochondrial pathway in early human brain development.

[UCL Queen Square Institute of Neurology @UCLIoN]

Congratulations to Henry Houlden on his appointment as one of the first UK DRI Group Leaders joining the recently established Parkinson's Research Centre. https://t.co/iuQc0tHOgV

[The Neurogenetics Lab UCL ION @IonSynapse]

Dr Lorenzo Perilli presented “Expanding the Genetic Landscape of cHSP: Clinical Evidence for SYNRG as a Novel Disease Gene” at 9th International symposium of paediatric movement disorders in Barcelona. @UCLIoN @UCLBrainScience

[The Neurogenetics Lab UCL ION @IonSynapse]

We’re hiring a Research Technician! 🔔This role will primarily support a project on genetic studies of Parkinson’s disease in Central Asia helping to address major gaps in PD genetics in under-represented populations. @UCLIoN @UCLBrainScience
Apply here https://t.co/o5Pp8KoTen

[The Neurogenetics Lab UCL ION @IonSynapse]

In this project, you will be helping understand the global causes of inherited neuromuscular disorders, as part of the ICGNMD-2 project. UCL Grade 6.

[The Neurogenetics Lab UCL ION @IonSynapse]

Calling all research technicians! New opportunity to work with us at the UCL Queen Square Institute of Neurology. Closes 17 Feb!
https://t.co/Ow3fWXTsMf 🧵

[Stephanie Efthymiou, PhD FHEA🇨🇾🇬🇧 @StephanieEfthy1]

Grateful to the @HEA for the teaching fellowship and to @UCLArena and @UCL Office of the Vice-President (External Engagement) for acknowledging my teaching efforts.

https://t.co/aoxfjrahUi

[The Neurogenetics Lab UCL ION @IonSynapse]

Congratulations to Karen Gunanayagam on being awarded a Guarantors of Brain Clinical Fellowship starting April 2026 & to Natalia Dominik on receiving a Guarantors of Brain non-clinical postdoctoral fellowship for three years starting from Oct 2026! 🎉🧠 @Brain1878 @UCLIoN

[hmorsy @hmorsy80]

Excited to see our new paper online in AJHG!
We identify MDGA2 homozygous loss-of-function variants as a cause of developmental and epileptic encephalopathy. Proud of this team effort! @IonSynapse

[Stephanie Efthymiou, PhD FHEA🇨🇾🇬🇧 @StephanieEfthy1]

Looking forward to contributing to this exciting International Conference on Human Genetics & Genomics organised by good friend Ilyas Muhammad at the University of Peshawar 🧬 @IonSynapse

[Rahema @Rahema_UCL]

What a fantastic night at our Christmas Drinks Reception! 🥂

It was incredible to bring together so many of our collaborators, sponsors, funders, industry partners, embassy representatives & patient organisations from across our global neurogenetics community.

Progress in this field is only possible through deep cross-sector collaboration at scale. Huge thanks to @nanopore for sponsoring and to everyone who joined us and continues to build this mission & work with us.

We’re excited to grow these partnerships and carry this momentum into 2026! ✨ @IonSynapse @LRS_UCL @UCLIoN @UCL_Global @uclh @UCLTRO @UCLBrainScience @UKDRI

[Dr Viorica Chelban @VioricaChelban]

An evening celebrating @IonSynapse collaborations. Our team marked the launch of UK DRI Parkinsons Disease Research Centre under Prof Henry Houlden’s leadership @UCLIoN, bringing researchers, clinicians, charity and industry to advance equitable discovery worldwide.@UCLTRO

[The Neurogenetics Lab UCL ION @IonSynapse]

We were delighted to host our Christmas Drinks Reception sponsored by @nanopore, bringing together partners, ambassadors, funders & charities shaping our global neurogenetics work. Grateful to all who joined us & excited for continued progress in 2026! 🥂 @UCLIoN @LRS_UCL

[European Journal of Human Genetics @ejhg_journal]

Welcome to our December #JournalClub!
This month, we’re discussing: "PIGC-related encephalopathy: Lessons learned from 18 new probands" from the latest issue of #EJHG

https://t.co/cFDRaSFaLm

[The Neurogenetics Lab UCL ION @IonSynapse]

Wishing everyone a very Merry Christmas and a wonderful start to the New Year from all of us at the lab! 🎄✨ @UCLIoN @UCLBrainScience @uclh

[Reza Maroofian @RMaroofian]

Biology doesn’t care about age, geography, or labels—it connects us in ways we don’t expect. In this short video, Toby explains how rare childhood brain disorders link to adult neurodegeneration, & why real progress comes from families, open science, & working together globally.

[Reza Maroofian @RMaroofian]

We previously characterised CHKA-related developmental & epileptic encephalopathy. This new work shows patient derived cells have disrupted Kennedy pathway activity, mitochondrial dysfunction & oxidative stress—partially rescued by mitochondrial uncoupling https://t.co/CtMDFIpsrv

[Reza Maroofian @RMaroofian]

Biallelic variants in SLC31A1, encoding copper transporter 1 (CTR1), cause a severe developmental and epileptic encephalopathy, linking disrupted copper transport to mitochondrial dysfunction and profound neurodevelopmental outcomes. @UCLIoN @braincomms. https://t.co/N7UdhFxCRM

[UCL Queen Square Institute of Neurology @UCLIoN]

The latest Neuromuscular Diseases (NMD) Research Day took place in Queen Square in November 2025. A fantastic day bringing together clinicians, researchers and trainees to share insights and celebrate progress in NMD research. Read more: https://t.co/Deam4RJGxM