People

Henry Houlden

Professor Henry Houlden is a Professor of Neurology and Neurogenetics at UCL Queen Square Institute of Neurology and serves as the Clinical Lead for Neurogenetics at the National Hospital of Neurology and Neurosurgery in London. He plays a key role on the Genomics England board for rare diseases as part of the 100,000 Genomes Project. His clinical expertise covers neurological disorders, including Parkinson’s disease, multiple system atrophy (MSA), ataxia, DRPLA, dementias, leukodystrophies, spastic paraplegia, and neuromuscular conditions. His research focuses on neurogenetics, particularly Parkinson’s in underrepresented populations, using novel genomic approaches. He is interested in studying ethnic diversity in underrepresented populations and has contributed to the discovery of many disease genes. His work integrates long-read sequencing with functional validation to understand the genetic basis of neurological conditions, aiming to improve diagnosis and treatment. He has over 700 publications in leading scientific journals, advancing neurogenetics worldwide.

Reza Maroofian

Dr. Reza Maroofian is a geneticist at the UCL Queen Square Institute of Neurology, specializing in the genetic and clinical characterization of hereditary neurological disorders. He earned his PhD from St. George's University of London and the University of Exeter in 2018. Dr. Maroofian's research focuses on identifying the genetic causes of rare, undiagnosed neurological conditions, with a particular interest in paediatric and young adult populations.

He has led international collaborations that have uncovered several ultra-rare diseases and contributed to building a global research network for rare disorders. His work emphasizes multidisciplinary approaches and the importance of data sharing to advance scientific discovery. Dr. Maroofian is also passionate about science communication, public engagement, and mentoring the next generation of scientists and clinicians. His research has been published in leading medical journals, highlighting his commitment to improving patient outcomes through genetic discovery.

Viorica Chelban

Dr. Viorica Chelban is a Senior Clinical Research Fellow at the UCL Institute of Neurology, where she specializes in translational research in neurodegeneration and rare neurological diseases. Her expertise lies in genomics and biomarkers, with a focus on movement disorders.

Dr. Chelban completed her PhD under the Association of British Neurologists Clinical Research Training Fellowship, supported by the MSA Trust, and further advanced her research through a Post-doctoral Fellowship funded by the Guarantors of Brain. She currently balances her clinical duties with research, seeing patients in the Multiple System Atrophy (MSA) and Neurogenetics clinics at the National Hospital for Neurology and Neurosurgery in London, while conducting both clinical and basic science research at the UCL Queen Square Institute of Neurology.

Her groundbreaking research in neurogenetics has led to the identification of novel disease-causing genes and the elucidation of underlying disease mechanisms and treatment pathways associated with rare neurological conditions, particularly in relation to NKX6-2, PDXK, and NAA60-related disorders.

Dr. Chelban has established several unique research infrastructures, including the UK Hereditary Spastic Paraplegia (HSP) Biobank and the UK MSA Network and Biobank. These initiatives aim to advance the understanding of molecular pathways in rare diseases through comprehensive biosample collections, prospective clinical and neuroimaging data, and the creation of trial-ready patient cohorts. As an educator, Dr. Chelban is dedicated to mentoring the next generation of scientists and clinicians. She delivers lectures on neurogenetics and MSA at UCL, supervises MSc and PhD students, and provides training to neurology trainees both nationally and internationally.

In her clinical role at UCLH, Dr. Chelban is involved in running clinical drug trials for patients with atypical parkinsonian conditions. Her research and clinical efforts are complemented by her dedication to enhancing patient outcomes through public and patient engagement. She organizes the annual MSA Research Symposium and fosters collaborative networks with research centres globally. Additionally, Dr. Chelban works with the MSA Trust to facilitate patient information sessions, making scientific advancements and clinical trials more accessible to patients and their families.

Rauan Kaiyrzhanov

Dr. Rauan Kaiyrzhanov, a Clinical Research Fellow at the Institute of Neurology, University College London (UCL), specializes in neurogenetics. He earned his medical degree from Semey State Medical Academy in Kazakhstan and pursued further education at UCL, obtaining both an MSc and PhD in Clinical Neurology. Dr. Kaiyrzhanov's doctoral research focused on identifying the genetic causes of rare pediatric neurological disorders in Central Asian and Transcaucasian populations. His research interests span a broad spectrum, encompassing rare pediatric neurological diseases and neurodegenerative disorders such as Parkinson’s disease, Huntington's disease, and Alzheimer's disease. Dr. Kaiyrzhanov is recognized for his contributions to identifying novel disease genes and pathways, particularly in the context of rare diseases identified in Central Asia and Transcaucasia. Recipient of several grants and awards, Dr. Kaiyrzhanov has authored over 60 publications, including the discoveries related to novel disease genes such as ACBD6, SPATA5L1, and LETM1, and other genetic abnormalities underlying rare neurological conditions. Since 2022, Dr. Kaiyrzhanov has been leading the MJFF-funded project CAT-PD, focusing on studying the genetics of Parkinson's disease in Central Asia. This project aims to establish a collaborative biobank of Parkinson's disease in Central Asia and Transcaucasus.

Stephanie Efthymiou

Dr. Stephanie Efthymiou has graduated from Imperial College as a Biologist and also spent a year in Lyon, France working on the pathogenesis of viruses like Ebola and Marburg. In 2014, she completed a Master’s degree in Molecular Biology and the Pathology of Viruses at Imperial College, where she developed a deep interest in understanding the molecular bases of disorders, such as the common flu caused by influenza virus. In 2015, she joined UCL Queen Square Institute of Neurology as a member of the Wellcome Trust Strategic Award for Synaptopathies. She aimed to identify the genetic basis of rare paroxysmal disorders and helped to establish the SYNAPS Patient Group which has collected over 30,000 patient samples to date. In 2020, she received her PhD in neurogenetics, under the supervision of Prof Henry Houlden and Dr Conceicao Bettencourt studying the genetic and functional basis of rare demyelinating neuropathies in children. She helped establish a genetic link for NFASC and NARS1 with early onset neurodevelopmental disorder. She continued with an ICGNMD Post-doctoral Research Fellowship under the supervision of Prof Michael Hanna. Her current research focus is studying the genetic basis of developmental delay, epileptic encephalopathies, and malformations of cortical development, seen in patients from different ethnic groups. Recently, she helped establish Optical Genome Mapping as a diagnostic test for FSHD and other repeat disorders at UCL. In parallel, she is very keen to help families affected by rare disorders and thus works very closely with patient groups. In the past two years, she has been involved with setting up the Rory Belle Foundation for NARS1 disease, the Jack Bear Foundation for RUBCN disease. She is very passionate about building and helping patient communities, as well as driving treatment research and development.