The Neurogenetics Lab ION
@qs-neurogenetics.bsky.social
The Neurogenetics lab at UCL ION led by Professor Henry Houlden is dedicated to discovering new genes and disease mechanisms linked to neurological disorders. Neurogenetics.co.uk
We had a wonderful time at UCLH’s Research Open Day!
It was a pleasure connecting with patients, families and the wider public to share a glimpse into how we’re using cutting-edge techniques to study the genetics of neurological conditions. 🧠🧬🔬
@uclh.bsky.social @uclqsion.bsky.social
It was a pleasure connecting with patients, families and the wider public to share a glimpse into how we’re using cutting-edge techniques to study the genetics of neurological conditions. 🧠🧬🔬
@uclh.bsky.social @uclqsion.bsky.social
July 10, 2025 at 11:19 PM
We had a wonderful time at UCLH’s Research Open Day!
It was a pleasure connecting with patients, families and the wider public to share a glimpse into how we’re using cutting-edge techniques to study the genetics of neurological conditions. 🧠🧬🔬
@uclh.bsky.social @uclqsion.bsky.social
It was a pleasure connecting with patients, families and the wider public to share a glimpse into how we’re using cutting-edge techniques to study the genetics of neurological conditions. 🧠🧬🔬
@uclh.bsky.social @uclqsion.bsky.social
Members of our lab had a fantastic time at the QS CNMD Summer Drinks -
a wonderful opportunity to reconnect with colleagues and meet new faces from across CNMD community. Huge thanks to the QS CNMD consultants for hosting! 🥂
@uclqsion.bsky.social @uclqsneuromuscular.bsky.social
a wonderful opportunity to reconnect with colleagues and meet new faces from across CNMD community. Huge thanks to the QS CNMD consultants for hosting! 🥂
@uclqsion.bsky.social @uclqsneuromuscular.bsky.social
July 10, 2025 at 10:50 PM
Members of our lab had a fantastic time at the QS CNMD Summer Drinks -
a wonderful opportunity to reconnect with colleagues and meet new faces from across CNMD community. Huge thanks to the QS CNMD consultants for hosting! 🥂
@uclqsion.bsky.social @uclqsneuromuscular.bsky.social
a wonderful opportunity to reconnect with colleagues and meet new faces from across CNMD community. Huge thanks to the QS CNMD consultants for hosting! 🥂
@uclqsion.bsky.social @uclqsneuromuscular.bsky.social
Reposted by The Neurogenetics Lab ION
Members of the Houlden Lab at UCL Queen Square IoN recently took part in the Celebrating Research at UCLH Open Day! It was a fantastic opportunity to connect with patients, families, and the wider public - sharing the latest advances in neurogenetics. #UCLHResearch #Neurogenetics
July 9, 2025 at 1:08 PM
Members of the Houlden Lab at UCL Queen Square IoN recently took part in the Celebrating Research at UCLH Open Day! It was a fantastic opportunity to connect with patients, families, and the wider public - sharing the latest advances in neurogenetics. #UCLHResearch #Neurogenetics
Dr Rauan Kaiyrzhanov presented at the International Conference of Pediatric Neurology (ICPN) in Cairo 🇪🇬, sharing expert insights on movement disorders in DEEs. He also led seminars and in-depth discussions on rare neurological disease cases with Egyptian collaborators.
@rauankaiyrzhanov.bsky.social
@rauankaiyrzhanov.bsky.social
June 24, 2025 at 11:13 PM
Dr Rauan Kaiyrzhanov presented at the International Conference of Pediatric Neurology (ICPN) in Cairo 🇪🇬, sharing expert insights on movement disorders in DEEs. He also led seminars and in-depth discussions on rare neurological disease cases with Egyptian collaborators.
@rauankaiyrzhanov.bsky.social
@rauankaiyrzhanov.bsky.social
Prof. Henry Houlden was in Boston recently for the launch of a landmark ALS genetics study in India led by NIMHANS, AIIMS & UCLION in partnership with TargetALS. 🇮🇳
Read more: bit.ly/40ohafF
@uclqsion.bsky.social @uclbrainscience.bsky.social
Read more: bit.ly/40ohafF
@uclqsion.bsky.social @uclbrainscience.bsky.social
Unlocking ALS Risk in South Asian Populations: Inside a Groundbreaking Genetic Study Led by India and the UK - Target ALS
Despite an estimated 100,000 people living with ALS in India, South Asian populations have been largely excluded from global genetic studies of the disease. This gap isn’t just a statistical oversight...
bit.ly
June 24, 2025 at 10:45 PM
Prof. Henry Houlden was in Boston recently for the launch of a landmark ALS genetics study in India led by NIMHANS, AIIMS & UCLION in partnership with TargetALS. 🇮🇳
Read more: bit.ly/40ohafF
@uclqsion.bsky.social @uclbrainscience.bsky.social
Read more: bit.ly/40ohafF
@uclqsion.bsky.social @uclbrainscience.bsky.social
Join our team at UCL ION as a Senior Research Technician and Analyst for Next Generation Sequencing 🧬
Play a key role in advancing neurogenetics research through cutting-edge sequencing.
Apply now: bit.ly/44h3XX8
@uclqsion.bsky.social @ukdri.ac.uk @uclbrainscience.bsky.social
Play a key role in advancing neurogenetics research through cutting-edge sequencing.
Apply now: bit.ly/44h3XX8
@uclqsion.bsky.social @ukdri.ac.uk @uclbrainscience.bsky.social
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
bit.ly
June 24, 2025 at 10:43 PM
Join our team at UCL ION as a Senior Research Technician and Analyst for Next Generation Sequencing 🧬
Play a key role in advancing neurogenetics research through cutting-edge sequencing.
Apply now: bit.ly/44h3XX8
@uclqsion.bsky.social @ukdri.ac.uk @uclbrainscience.bsky.social
Play a key role in advancing neurogenetics research through cutting-edge sequencing.
Apply now: bit.ly/44h3XX8
@uclqsion.bsky.social @ukdri.ac.uk @uclbrainscience.bsky.social
Natalia Dominik, NIHR BRC Research Fellow recently volunteered with Genetics Society at the Lambeth Country Show. Through hands-on activities like building chromosomes & the PTC taste test, she engaged the public in genetics, highlighting the vital role of science outreach. @uclqsion.bsky.social 🧬
June 14, 2025 at 9:03 PM
Natalia Dominik, NIHR BRC Research Fellow recently volunteered with Genetics Society at the Lambeth Country Show. Through hands-on activities like building chromosomes & the PTC taste test, she engaged the public in genetics, highlighting the vital role of science outreach. @uclqsion.bsky.social 🧬
Reposted by The Neurogenetics Lab ION
Loss of XRCC1 disrupts cerebellar development in zebrafish due to toxic PARP1 accumulation. Strikingly, parp1 knockdown rescues the XRCC1 phenotype, supporting PARP1 inhibition as a potential therapy in recessive XRCC1-related neurodegenerative disorders with ataxia. www.nature.com/articles/s41...
Parp1 deletion rescues cerebellar hypotrophy in xrcc1 mutant zebrafish - Scientific Reports
Scientific Reports - Parp1 deletion rescues cerebellar hypotrophy in xrcc1 mutant zebrafish
www.nature.com
May 18, 2025 at 4:23 PM
Loss of XRCC1 disrupts cerebellar development in zebrafish due to toxic PARP1 accumulation. Strikingly, parp1 knockdown rescues the XRCC1 phenotype, supporting PARP1 inhibition as a potential therapy in recessive XRCC1-related neurodegenerative disorders with ataxia. www.nature.com/articles/s41...
Reposted by The Neurogenetics Lab ION
We previously reported a novel recessive pediatric neurodegenerative disorder linked to BORCS8. Now, we identify another BORC complex subunit, BORCS5, as a new disease gene causing a broader neurodevelopmental & neurodegenerative spectrum with clear genotype–phenotype correlation. Read the preprint:
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction https://www.medrxiv.org/content/10.1101/2025.04.30.25326597v1
May 8, 2025 at 10:18 PM
We previously reported a novel recessive pediatric neurodegenerative disorder linked to BORCS8. Now, we identify another BORC complex subunit, BORCS5, as a new disease gene causing a broader neurodevelopmental & neurodegenerative spectrum with clear genotype–phenotype correlation. Read the preprint:
Reposted by The Neurogenetics Lab ION
Our lab characterises the autosomal recessive TRMT1-related neurodevelopmental disorder through a large cohort, patient-derived cells, and zebrafish model—linking defective tRNA methylation to intellectual disability and expanding the emerging group of "tRNAopathies". www.cell.com/ajhg/fulltex...
Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
We identify bi-allelic variants in TRMT1, encoding a tRNA-modification enzyme, that
cause intellectual disability and developmental delay. Functional studies in human
cells and zebrafish provide insig...
www.cell.com
April 19, 2025 at 12:33 PM
Our lab characterises the autosomal recessive TRMT1-related neurodevelopmental disorder through a large cohort, patient-derived cells, and zebrafish model—linking defective tRNA methylation to intellectual disability and expanding the emerging group of "tRNAopathies". www.cell.com/ajhg/fulltex...
Reposted by The Neurogenetics Lab ION
Our Collaborative work on TRMT1, a tRNA-modifying enzyme, is out in @ajhgnews.bsky.social. A team of human geneticists led by Drs. Houlden' @qs-neurogenetics.bsky.social and Dragony Fu' labs identified 43 individuals from 31 families with biallelic TRMT1 variants.
www.cell.com/ajhg/fulltex...
www.cell.com/ajhg/fulltex...
Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
We identify bi-allelic variants in TRMT1, encoding a tRNA-modification enzyme, that
cause intellectual disability and developmental delay. Functional studies in human
cells and zebrafish provide insig...
www.cell.com
April 17, 2025 at 3:13 AM
Our Collaborative work on TRMT1, a tRNA-modifying enzyme, is out in @ajhgnews.bsky.social. A team of human geneticists led by Drs. Houlden' @qs-neurogenetics.bsky.social and Dragony Fu' labs identified 43 individuals from 31 families with biallelic TRMT1 variants.
www.cell.com/ajhg/fulltex...
www.cell.com/ajhg/fulltex...
Reposted by The Neurogenetics Lab ION
The Neurogenetics Lab recently welcomed families from around the world for a dedicated Patient Engagement Day focused on NARS1-related neurodevelopmental disorders, in collaboration with Rory Belle Foundation @qs-neurogenetics.bsky.social @rahema-ucl.bsky.social
www.ucl.ac.uk/ion/news/202...
www.ucl.ac.uk/ion/news/202...
April 9, 2025 at 3:22 PM
The Neurogenetics Lab recently welcomed families from around the world for a dedicated Patient Engagement Day focused on NARS1-related neurodevelopmental disorders, in collaboration with Rory Belle Foundation @qs-neurogenetics.bsky.social @rahema-ucl.bsky.social
www.ucl.ac.uk/ion/news/202...
www.ucl.ac.uk/ion/news/202...
Recently at Brain Conference, Dr. Viorica Chelban co-chaired a session on Movement Disorders with Prof. Nick Wood, while Lottie McKay-Dalton & Reagan Lee presented posters on how pathogenic variants in glutamate & potassium ion channels contribute to NDDs. @uclqsion.bsky.social
March 23, 2025 at 11:09 PM
Recently at Brain Conference, Dr. Viorica Chelban co-chaired a session on Movement Disorders with Prof. Nick Wood, while Lottie McKay-Dalton & Reagan Lee presented posters on how pathogenic variants in glutamate & potassium ion channels contribute to NDDs. @uclqsion.bsky.social
Join us at UCL ION on Thurs 27th March for an afternoon on how @nanoporetech.com & VarSome are reshaping diagnosis of NDDs and other brain disorders through sequencing & variant interpretation. 🧬🧠
@uclbrainscience.bsky.social @uclqsion.bsky.social
share.hsforms.com/1XQaCRGiVQuG...
@uclbrainscience.bsky.social @uclqsion.bsky.social
share.hsforms.com/1XQaCRGiVQuG...
March 23, 2025 at 3:29 PM
Join us at UCL ION on Thurs 27th March for an afternoon on how @nanoporetech.com & VarSome are reshaping diagnosis of NDDs and other brain disorders through sequencing & variant interpretation. 🧬🧠
@uclbrainscience.bsky.social @uclqsion.bsky.social
share.hsforms.com/1XQaCRGiVQuG...
@uclbrainscience.bsky.social @uclqsion.bsky.social
share.hsforms.com/1XQaCRGiVQuG...
At MSA Health & Care Professionals Study Day, Prof Henry Houlden provided an overview of MSA offering key insights for healthcare professionals. Dr Yee Yen Goh presented on how to diagnose MSA in patients, outlining key clinical markers & diagnostic approaches. @uclqsion.bsky.social
March 9, 2025 at 10:51 PM
At MSA Health & Care Professionals Study Day, Prof Henry Houlden provided an overview of MSA offering key insights for healthcare professionals. Dr Yee Yen Goh presented on how to diagnose MSA in patients, outlining key clinical markers & diagnostic approaches. @uclqsion.bsky.social
This week, members of our lab attended LifeArc MND & Rare Dementias Science Summit, highlighting advances in NDD research. The event emphasised collaboration in driving meaningful progress across therapeutic discovery, early diagnosis & digital solutions. 🧠 @uclqsion.bsky.social @lifearc.bsky.social
March 9, 2025 at 10:49 PM
This week, members of our lab attended LifeArc MND & Rare Dementias Science Summit, highlighting advances in NDD research. The event emphasised collaboration in driving meaningful progress across therapeutic discovery, early diagnosis & digital solutions. 🧠 @uclqsion.bsky.social @lifearc.bsky.social
Reposted by The Neurogenetics Lab ION
For #RareDiseaseDay2025, @qs-neurogenetics.bsky.social is celebrating the invaluable contributions of our international collaborators, whose dedication is driving ground-breaking advancements in rare disease research across the globe. ucl.ac.uk/ion/news/202...
February 28, 2025 at 9:27 AM
For #RareDiseaseDay2025, @qs-neurogenetics.bsky.social is celebrating the invaluable contributions of our international collaborators, whose dedication is driving ground-breaking advancements in rare disease research across the globe. ucl.ac.uk/ion/news/202...
Members of our lab hosted a live Q&A for families affected by VAMP2-related disorder, bridging the gap between research and those impacted. First identified at UCL in 2019, this ultra-rare condition remains a key focus of our work! bit.ly/3Xgzmqi @uclbrainscience.bsky.social @uclqsion.bsky.social
February 25, 2025 at 5:35 PM
Members of our lab hosted a live Q&A for families affected by VAMP2-related disorder, bridging the gap between research and those impacted. First identified at UCL in 2019, this ultra-rare condition remains a key focus of our work! bit.ly/3Xgzmqi @uclbrainscience.bsky.social @uclqsion.bsky.social
🎙️ Meet the Speaker: Prof. Wassilios Meissner
Join us at the MSA Symposium! Prof. Meissner’s talk on Distinct Progression Profiles in MSA will open an important discussion on MSA progression & its implications for treatment.
🔗 Sign up now: bit.ly/4bc61D7
@uclqsion.bsky.social
Join us at the MSA Symposium! Prof. Meissner’s talk on Distinct Progression Profiles in MSA will open an important discussion on MSA progression & its implications for treatment.
🔗 Sign up now: bit.ly/4bc61D7
@uclqsion.bsky.social
February 25, 2025 at 9:29 AM
🎙️ Meet the Speaker: Prof. Wassilios Meissner
Join us at the MSA Symposium! Prof. Meissner’s talk on Distinct Progression Profiles in MSA will open an important discussion on MSA progression & its implications for treatment.
🔗 Sign up now: bit.ly/4bc61D7
@uclqsion.bsky.social
Join us at the MSA Symposium! Prof. Meissner’s talk on Distinct Progression Profiles in MSA will open an important discussion on MSA progression & its implications for treatment.
🔗 Sign up now: bit.ly/4bc61D7
@uclqsion.bsky.social
Members of our lab attended the Festival of Genomics & Biodata 2025 recently which was a great opportunity to connect, share ideas and stay updated on the latest in genomic research. Looking forward to integrating new insights into our ongoing work! @uclbrainscience.bsky.social @uclqsion.bsky.social
February 23, 2025 at 4:50 PM
Members of our lab attended the Festival of Genomics & Biodata 2025 recently which was a great opportunity to connect, share ideas and stay updated on the latest in genomic research. Looking forward to integrating new insights into our ongoing work! @uclbrainscience.bsky.social @uclqsion.bsky.social
Reposted by The Neurogenetics Lab ION
As part of 2 parallel studies, we delineated a new subtype of neurodevelopmental disorder linked to biallelic GTF3C3 variants. One study models the disorder using zebrafish, while the other utilizes fly. Check both papers below: academic.oup.com/braincomms/a... www.sciencedirect.com/science/arti...
Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish
Abdel-Hamid et al. identified biallelic GTF3C3 variants in four individuals with neurodevelopmental disorders, including developmental delay/intellectual d
academic.oup.com
February 5, 2025 at 7:22 PM
As part of 2 parallel studies, we delineated a new subtype of neurodevelopmental disorder linked to biallelic GTF3C3 variants. One study models the disorder using zebrafish, while the other utilizes fly. Check both papers below: academic.oup.com/braincomms/a... www.sciencedirect.com/science/arti...
Reposted by The Neurogenetics Lab ION
NDUFA13, a mitochondrial complex I subunit, was linked to complex I deficiency in only 3 patients. We now report 10 more cases, expanding the phenotypic spectrum, consolidating its role, & comparing it with other complex I deficiency subtypes. Please Check our paper: academic.oup.com/braincomms/a...
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
Kaiyrzhanov et al. provide a cumulative phenotype characterization of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13 (NDUFA13)-related disease descri
academic.oup.com
January 24, 2025 at 11:55 PM
NDUFA13, a mitochondrial complex I subunit, was linked to complex I deficiency in only 3 patients. We now report 10 more cases, expanding the phenotypic spectrum, consolidating its role, & comparing it with other complex I deficiency subtypes. Please Check our paper: academic.oup.com/braincomms/a...
Reposted by The Neurogenetics Lab ION
Read all about our Neurogenetics Lab's collaboration with Little House of Science to host an engaging day of neuroscience and genetics for 96 children aged 4-13, igniting a passion for science among young minds! ucl.ac.uk/ion/news/202... @qs-neurogenetics.bsky.social
January 21, 2025 at 3:24 PM
Read all about our Neurogenetics Lab's collaboration with Little House of Science to host an engaging day of neuroscience and genetics for 96 children aged 4-13, igniting a passion for science among young minds! ucl.ac.uk/ion/news/202... @qs-neurogenetics.bsky.social
Check out the latest article from the ION-DRI Newsletter about our lab. Learn more about our ongoing research & the work we're doing to better understand the genetic mechanisms behind neurological diseases! 🧬🧠 @uclqsion.bsky.social @uclbrainscience.bsky.social
www.ucl.ac.uk/ion-dri-prog...
www.ucl.ac.uk/ion-dri-prog...
January 19, 2025 at 11:13 PM
Check out the latest article from the ION-DRI Newsletter about our lab. Learn more about our ongoing research & the work we're doing to better understand the genetic mechanisms behind neurological diseases! 🧬🧠 @uclqsion.bsky.social @uclbrainscience.bsky.social
www.ucl.ac.uk/ion-dri-prog...
www.ucl.ac.uk/ion-dri-prog...
Reposted by The Neurogenetics Lab ION
In 2013, we identified KPTN as a cause of NDD, though its function was unclear at the time. By 2017, it was shown to be part of the KICSTOR complex with KICS2, ITFG2, & SZT2, regulating mTORC1 signaling. We've now published KICS2 linked to NDD, with ITFG2 next in line. www.cell.com/ajhg/fulltex...
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
Sequencing 8 individuals with intellectual disability identified bi-allelic variants
in KICS2, which encodes a component of the KICSTOR complex. A combination of in vitro
and in vivo analyses demonstr...
www.cell.com
January 16, 2025 at 5:48 PM
In 2013, we identified KPTN as a cause of NDD, though its function was unclear at the time. By 2017, it was shown to be part of the KICSTOR complex with KICS2, ITFG2, & SZT2, regulating mTORC1 signaling. We've now published KICS2 linked to NDD, with ITFG2 next in line. www.cell.com/ajhg/fulltex...