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We visit the Neurogenetics lab, led by Professors Henry Houlden and John Hardy, to hear about disease-associated gene hunting and discovery and understanding disease mechanisms.
We go behind the scenes at the Neurogenetics Lab, led by Professors Henry Houlden and John Hardy, to explore the world of disease-associated gene hunting and discovery and the process of understanding the genetic mechanisms behind rare neurological disorders and more common conditions like Alzheimer’s disease, Parkinson’s disease, and ALS.
Members of the Neurogenetics Lab, UCL Queen Square Institute of Neurology
Our research has the potential to transform patient care by providing earlier and more accurate diagnoses, guiding personalised treatments, and offering hope for disease-modifying therapies in the coming years. The identification of new genes associated with conditions like Parkinson’s disease can fast-track therapeutic discoveries and potentially slow or halt disease progression.
Our research integrates genetic, clinical phenotyping, functional cell biology, and neuropathological methods to unravel the complexities of neurological diseases. Routinely we analyse combination of sequencing data generated by short-read whole exome and genome sequencing data with clinical details to identify the genetic causes of rare/ultra-rare undiagnosed or challenging-to-diagnose neurogenetic disorders.
“Our mission is to transform the landscape of genetic disease research and treatment efforts on an international scale.
A core focus of our lab is also to address the underrepresentation of diverse populations in genetic research. We work closely with over 100 international collaborators to include patients from communities in the Middle East, Africa, Central Asia, and beyond. This inclusive approach not only helps improve equity in research but also enhances the robustness of our findings.
Our lab has one of the largest biobanks of samples including blood, DNA, fibroblast cells and brain from patients with ultra-neurological disorders which is essential for accurate and impactful discoveries in medicine and genetics.
We use conventional and state-of-the-art methodologies including long-read sequencing and RNA sequencing. Once we identify the cause of the disease, we collaborate with other groups on data sharing and functional analysis of the variants using in-vivo and invitro models and systems.
We focus on DNA, RNA analysis, protein expression, and interactions in human tissue, anticipating these will be central to future neurological research. The next decade promises treatments for human diseases rooted in these scientific breakthroughs, so collecting neuropathological material and biosamples is crucial.
Our group is actively investigating genetic and pathological aspects of neurodegeneration, and recently identified two novel cerebellar ataxia genes. We are also exploring genes involved in cerebellar ataxia, peripheral neuropathy, Parkinson's disease, atypical parkinsonism, dementia and rare neurological diseases. These studies aim to translate genetic and neuropathological insights into disease-modifying treatments for human neurological disorders. Our mission is to transform the landscape of genetic disease research and treatment efforts on an international scale.
Over 60% of affected individuals don’t have a definitive diagnosis and there’s still a lack of understanding of function for a large proportion of the genes in human genome, so there's significant work ahead.
Our lab nurtures a fast-moving, dynamic atmosphere that thrives on innovation and rapid advancements in genetic research. We’re committed to creating an inclusive and welcoming environment for a diverse group of individuals and work with collaborators internationally to understand the basis of neurological disorders in diverse populations.
We have over 30 lab members, including Senior Research Fellows, Clinical Research Fellows, Bioinformaticians, PhD students, Research Technicians, and master’s students. We frequently host visiting fellows from regions such as the Middle East, South Asia, Central Asia, East and West Europe and Africa, who come to train and collaborate in their areas of expertise.
Professor Henry Houlden with collaborators in Nigeria during a recent visit
Over 60% of affected individuals don’t have a definitive diagnosis and there’s still a lack of understanding of function for a large proportion of the genes in human genome, so there's significant work ahead.
We work with international clinicians and diagnostic genetic labs, industry partners and organisations such as the Michael J. Fox Foundation, Alzheimer’s Research UK, and Genetic Alliance, to provide precise genetic diagnoses for patients and streamline efforts to improve patient outcomes and discover effective therapies.
For nearly 20 years, we've partnered with the Neurogenetics Laboratory at UCLH’s National Hospital Neurology and Neurosurgery, advancing neurogenetic research. Our lab unusually works closely with diagnostic lab to resolve undiagnosed cases through data sharing and re-analysing the sequencing data.
Long-Read Sequencing Facility
UCL LRS was established in 2019 as a collaboration between the Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and UKDRI. We are a cost recovery, not-for-profit collaborative research facility who offers our expertise to researchers at UCL and externally. Equipped with the latest instruments in long read sequencing including PacBio Sequell IIe and Oxford Nanopore PromethION. Excitingly, we will also be welcoming the PacBio Revio to the facility soon!
Long read sequencing can span regions that are complex, enabling better detection of structural variants, complex rearrangements and repeat expansion length variations. It also allows us to characterise whole transcripts. Over the years, we have worked on a range of projects and have contributed to multiple published manuscripts from neurodegeneration, cancer research, immunological studies and de novo genomes for ecological research.
For any further information or to collaborate with us, please email us
When we relocate to Grays Inn Road , we’ll have a dedicated sequencing facility, which will be a great opportunity for us to work more closely with researchers working on a range of genetic projects for neurological diseases.
We asked our team about working in the Neurogenetics lab...
How has working in this lab helped you grow professionally or personally?
Working at the IoN has allowed me to grow my bioinformatical and genetic laboratory skills independently and collaboratively, focusing on areas that I care about, as well as giving me the opportunity to present at conferences and to teach.
Nathan Routledge, PhD Student
What’s your favourite memory of working here?
Having the privilege to collaborate with Little House of Science in helping and teaching young children about the basis of genetics and what our lab does.
Tracy Lau, PhD Student
What inspires you most about the work being done in this lab?
I am inspired by the lab’s collaboration and dedication to studying underrepresented and diverse populations with rare neurogenetic diseases, promoting equity and inclusivity in science.
Kristina Zhelcheska, PhD Student