Research Team
At the heart of our mission to cure NKX6-2 there are world-class, international groups of dedicated scientists, academics, and widely acknowledged researchers. Headquartered across prestigious global institutions—including University College London (UCL), UT Southwestern Medical Centre (UTSW) in Dallas, Laval University in Canada, and the University of Lisbon in Portugal, these elite teams are pioneering the advanced genetic science required to change the future of leukodystrophy care.
While our Clinical and Therapeutic Care Team support patients in the present, this extraordinary research network is focused entirely on the future: translating breakthrough laboratory insights into targeted, life-saving gene therapies.
The Research Team also includes highly valued consultants and partners that have co-ordinated the initial call for research, provide access to scientific advisory boards and manage on-going project milestones.
They will advise on progressing the gene therapy through the various stages of efficacy, safety and rigorous processes around regulatory approvals. This requires production of expert documentation, deep analysis and evaluation of laboratory results and advanced understanding of scientific papers - capabilities that this consulting framework brings to our mission.
Dr. Viorica Chelban and Professor Henry Houlden led the research group at University College London (UCL) that originally discovered that mutations in the NKX6-2 gene cause progressive spastic ataxia and hypomyelination (Spastic Ataxia 8 / SPAX8).
Their seminal paper, titled "Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination," was published in June 2017 in the prestigious medical journal Brain.
Dr. Viorica Chelban
Clinical Academic & Neurologist, UCL Queen Square Institute of Neurology
Dr. Viorica Chelban specializes in translational work, genomics, and biomarker discovery in rare neurodegenerative diseases. She was the primary researcher and first author on the groundbreaking 2017 study that first identified NKX6-2 mutations as the cause of progressive spastic ataxia and hypomyelinating leukodystrophy. Dr. Chelban splits her time between conducting cutting-edge basic science research at UCL and treating patients at the neurogenetics clinics at the National Hospital for Neurology and Neurosurgery in London. She is dedicated to bridging the gap between genetic discovery and practical, personalized medicine for patients living with ultra-rare conditions.
Professor Henry Houlden
Professor of Neurology & Neurogenetics, UCL Queen Square Institute of Neurology
Professor Henry Houlden is a globally recognized leader in neurogenetics and clinical neurology. His research focuses on defining the genetic architecture and molecular mechanisms underlying rare neurodegenerative and movement disorders. In 2017, Professor Houlden’s research group at UCL co-discovered the link between biallelic mutations in the NKX6-2 gene and severe central nervous system hypomyelination. Alongside his extensive research portfolio, which includes leading large-scale sequencing initiatives like the 100,000 Genomes Project, he serves as an NHS Consultant Neurologist at the National Hospital for Neurology and Neurosurgery.
Professor Jacques P. Tremblay
Professor of Molecular Medicine, Faculty of Medicine, Laval University
Professor Jacques P. Tremblay is an internationally recognized leader in the development of cell and gene therapies for hereditary diseases. His pioneering research focuses on using cutting-edge CRISPR and PRIME editing technologies to directly correct genetic errors. At Laval University, Professor Tremblay's team completed research in vital pre-clinical research to correct the specific point mutations in the NKX6-2 gene responsible for Spastic Ataxia 8 (SPAX8). Recognized as one of Canada's top researchers in molecular medicine, his ultimate goal is to pioneer targeted gene-editing therapies that can repair mutated genes and provide life-changing treatments for families living with rare neuromuscular disorders.
Dr. Federico Herrera
Assistant Professor & Head of the Cell Structure and Dynamics Laboratory, Faculty of Sciences, University of Lisbon
Dr. Federico Herrera is a leading cell and molecular biologist specializing in the dynamics of neurodegenerative and rare central nervous system diseases. His laboratory focuses on developing advanced molecular tools and living cell models to uncover how genetic errors alter protein behaviour. In pioneering research, Dr. Herrera's team has investigated the exact structural consequences of NKX6-2 mutations, exploring whether Spastic Ataxia 8 (SPAX8) behaves as a protein misfolding and aggregation disorder. By applying novel techniques like protein complementation, his goal is to find innovative ways to restore full NKX6-2 transcription factor function in cells, paving the way for targeted therapeutic interventions for patients and families.
n-Lorem Foundation
Non-Profit Research Organization & ASO Technology Pioneers
The n-Lorem Foundation is a unique non-profit organization dedicated to discovering and providing personalized antisense oligonucleotide (ASO) medicines for patients with ultra-rare mutations. We partnered with n-Lorem to conduct a rigorous, dedicated scientific assessment to evaluate whether ASO technology could be used to treat NKX6-2 mutations. While their deep-dive analysis ultimately determined that the specific molecular mechanisms of NKX6-2 are not suitable for an ASO-based therapeutic approach, their expert evaluation provided our community with invaluable clarity.
Dr. Steven Gray
Professor of Paediatrics & Director of the UTSW Viral Vector Facility, UT Southwestern Medical Centre
Dr. Steven Gray is an internationally recognised pioneer in the field of gene therapy, specialising in the development of adeno-associated virus (AAV) vector systems tailored for the central nervous system. His research focuses on optimising delivery methods to safely transport healthy, functional genes directly into brain and spinal cord cells. At UT Southwestern, Dr. Gray’s laboratory is leading critical preclinical research to explore the viability of an AAV-based gene-replacement therapy specifically for NKX6-2 mutations (Spastic Ataxia 8 / SPAX8). With a proven track record of successfully translating laboratory breakthroughs into first-in-human clinical trials for multiple rare neurological disorders, his ultimate goal is to pioneer a safe, effective, and lasting gene therapy that addresses the root cause of NKX6-2 for patients and families.
Dr Xin Chen
Assistant Professor in the Department of Paediatrics at UT Southwestern Medical Centre.
Dr Xin Chen joined the UT Southwestern faculty in 2018 after being in the medical field for more than 20 years.
Dr. Chen earned his medical degree at North China Coal Medical College in 1986, followed by a master’s in pathophysiology in 1989 at Hengyang Medical College. In 2000, he completed his Doctor of Philosophy in Biosignal Pathophysiology at Kobe University in Kobe, Japan. He then completed a fellowship at Case Western Reserve University.
The recipient of multiple investigator awards for research, Dr. Chen focuses his scientific efforts on developing adeno-associated virus (AAV) based gene therapy treatments for neurological diseases with the goal of translating preclinical results into clinical trials.
Dr. Julie Greenfield & Ataxia UK
Head of Research, Ataxia UK (Leading National Medical Research Charity)
Ataxia UK is the premier national charity dedicated to funding robust medical research toward treatments and cures for progressive Ataxias. When we first attended the Ataxia UK conference in 2019, we faced a total lack of information and very little hope. The charity's Head of Research, Dr. Julie Greenfield, completely transformed our perspective by opening our eyes to what was possible, orchestrating a global call for research that we didn't even know existed.
Over the past seven years, Julie and the Ataxia UK team have served as core collaborative partners. They have provided consistent strategic advice, project direction, and vital access to their Scientific Advisory Committee at all stages of our development, enabling us to build an organized, global research network for NKX6-2.
Terry Pirovollakis
Terry and his team at Elpida Therapeutics are our trusted consultants. They are commissioned to drive our mission forward all the way to clinic. Terry is a formidable and well respected force within this niche field of science and has built an incredible reputation to advance gene therapies forward, and fast, for rare diseases. Terry is a Father who has experienced the full journey, from diagnosis to cure, first hand.
On April 2, 2019, Terry and Georgia Pirovolakis received the heartbreaking news that their youngest son, Michael, had been diagnosed with a rare hereditary disease called SPG50. They were told to go home, love him, and give him the best life possible, as there was nothing available to prevent the paralysis he would eventually face. This marked the beginning of the Pirovolakis family's quest to find a better future for Michael and other children and families around the world facing similar challenges; a journey that led to the creation of Elpida Therapeutics.
Clinical and Therapeutic Care Team
For individuals navigating NKX6-2, comprehensive day-to-day therapeutic care is critical to maintaining vital physical and mental health.
Our dedicated team of healthcare professionals serves as an incredible pillar of support. Through structured physiotherapy, hydrotherapy, and occupational therapy programmes, they have directly empowered patients like Kaiya to make outstanding progress in physical strength. Equally important is the mental and emotional resilience nurtured through continuous communication, well-being guidance, and pastoral-led support integrated at a local level.
This care is backed by world-class, highly specialised neurological and orthopaedic monitoring at London’s Great Ormond Street Hospital and the Royal National Orthopaedic Hospital.
We believe the best results – and the greatest hope - come from a cohesive partnership between doctors, therapists, and families. This continuous care is essential. As we work towards a groundbreaking gene therapy cure, patients that have kept physically strong, active in their exercise programs, and are supported by a positive outlook, will have the best chance of success.
Andrea K Clarke MBE
Chartered Paediatric Physiotherapist
Andrea is an integral part of our team, bringing over three decades of paediatric expertise spanning the NHS, private consulting, and the charitable sector. Specialising in developmental delay, cerebral palsy, and young adult transitions (ages 0–19), Andrea has dedicated her career to empowering children with physical disabilities.
Humble in her approach, Andrea’s visionary work includes serving as a lead NHS Consultant, acting as a key panel member for the Association of Paediatric Chartered Physiotherapists, and founding the renowned children's charity, Playskill. In 2018, Andrea was awarded an MBE by Her Late Majesty Queen Elizabeth II for her exceptional services to children and young people.
Dr. Hecate Diaz
Consultant Paediatrician & Clinical Lead for Community Child Health, Central and North West London NHS Foundation Trust
Dr. Hecate Diaz is a senior consultant paediatrician specialising in neurodevelopmental paediatrics and the comprehensive management of complex neuro-disabilities. As the Clinical Lead for Community Child Health in Harrow, Dr. Diaz works at the vital intersection of multidisciplinary care - liaising closely with families, schools, therapies, and tertiary specialist hospitals like GOSH to manage the daily impacts of rare genetic conditions. Providing essential local and community-based clinical care, she ensures that patients with rare conditions like NKX6-2 receive coordinated medical oversight, essential therapies, and dedicated long-term physical and developmental support directly within their community.
Professor Deborah Eastwood
Consultant Paediatric Orthopaedic Surgeon, Royal National Orthopaedic Hospital (RNOH) & Great Ormond Street Hospital (GOSH) Professor Deborah Eastwood is an internationally recognised leader in paediatric orthopaedic surgery, holding dual consultant appointments at RNOH Stanmore and GOSH, alongside her role as an Associate Professor at University College London (UCL). She specialises in managing complex musculoskeletal conditions, abnormal growth, and neuromuscular disorders in children. Professor Eastwood provides expert orthopaedic oversight, focusing on preserving mobility, managing structural development, and addressing the complex physical impacts of rare conditions like NKX6-2. Her extensive clinical experience and dedication to patient-centred care ensure that long-term physical and surgical management is seamlessly integrated into the patient's broader care plan.
Dr. Marios Kaliakatsos
Consultant Paediatric Neurologist, Great Ormond Street Hospital (GOSH)
Dr. Marios Kaliakatsos is a highly specialised consultant in paediatric neurology with extensive expertise in complex neurodevelopmental, neuromuscular, and rare genetic disorders. For over a decade, Dr. Kaliakatsos has served as Kaiya’s primary neurologist, managing her long-term clinical care with a deeply personalised approach. He combines world-class medical expertise with exceptional pastoral care, ensuring that both the medical and emotional needs of the patient and family are fully supported throughout the journey. His dedicated, long-term involvement provides a vital clinical perspective on managing the day-to-day realities and progression of the condition.
Lynsay Macfarlane-Shaw
Specialist Occupational Therapist
Lynsay Macfarlane-Shaw is a dedicated and highly skilled Specialist Occupational Therapist with extensive expertise in neuro-disability, physical rehabilitation, and complex postural management. She focuses on enhancing functional independence, managing sensory and physical needs, and maximising a patient's engagement in daily activities. Lynsay provides expert assessments for specialised equipment, assistive technology, and home adaptations, ensuring that the environment is fully tailored to support long-term care. Her holistic, patient-centred approach plays a critical role in improving daily safety, comfort, and overall quality of life for patients navigating challenges brought on because of medical conditions.
Kalpana Sanghrajka
Chartered Physiotherapist & Clinical Director
Kalpana Sanghrajka is a highly experienced Chartered Physiotherapist specialising in paediatric and adult neuro-physiotherapy, complex physical disabilities, and long-term rehabilitation. As a core member of our care team, she provides tailored, hands-on physical therapy designed to optimise mobility, manage muscle tone, and maintain joint flexibility. Kalpana combines specialised clinical expertise with a compassionate, patient-centred approach, working closely with families to implement vital daily management strategies. Her long-term dedication ensures that individuals living with rare neurological conditions like NKX6-2 receive the essential physical support needed to enhance their functional independence and overall quality of life.
Lauren Weinstein
Chartered Physiotherapist
Lauren is an enthusiastic, passionate, and hardworking Paediatric Physiotherapist who brings a dedicated focus to her work with children and young people. Specialising in care from birth through to 19 years of age, she is highly skilled in assessing, managing, and treating a diverse range of conditions, as well as supporting young patients during their transition into adult services. Committed to evidence-based, holistic care, Lauren regularly pursues advanced courses to keep her practice at the cutting edge. She thrives both as an autonomous practitioner and as a collaborative multi-disciplinary team member, consistently working alongside families and healthcare professionals to ensure optimum outcomes. Her versatile experience spans acute hospital settings, outpatient clinics, home visits, and educational environments like nurseries, schools, and colleges. Lauren has been an instrumental part of our team.
Education and Pastoral Team
We have been fortunate enough to send Kaiya to Nursery and School on a full day basis – a privilege we know is not shared by many families affected with NKX6-2 or similar conditions.
In our experience, Kaiya’s educational settings have been truly exceptional; a genuine home away from home that has provided overwhelming support to our entire family. We view her educators an indispensable part Our Team.
We firmly believe this success stems from open, transparent communication. By regularly updating the school on Kaiya’s health - both the milestones and the setbacks - and deeply respecting the vast scope of an educator's role, we have built a powerful partnership. Teachers spend significant, structured time with children, offering unique professional insights into academic strengths, behavioural patterns, social dynamics, and even daily preferences that parents might not otherwise see.
A respectful and co-ordinated partnership between parents and teachers form an integral part of a child’s education, which will naturally increase the chances of positive outcomes.
Fountain Montessori
Kaiya attended Fountain from the age of 1 through to 4 years old. It was in fact Fountain’s teachers that called us in one morning, when Kaiya was around 18 months old, to express concern about her physical development. While we knew she was missing milestones, this early intervention encouraged us to get a head start on investigative work and therapy.
Early on our journey, during those Nursery years, we did not have a diagnosis. We knew Kaiya’s condition was serious, we knew her cerebellum, the part of the brain that controls fine and gross motor function was damaged, and we knew she would need significant additional care and support. The Fountain team could have walked away at this point. They did the exact opposite. They leaned in with total engagement, driven by a passion to develop this little person regardless of the obstacles. In their minds, there were no barriers to what Kaiya could achieve. This nurturing, highly positive, and structured environment saw Kaiya flourish despite challenges.
At the same time, Fountain remained acutely aware and realistic about Kaiya’s future and the possible difficulties that lay ahead as the condition developed. To mitigate these future challenges, they encouraged and supported us to ensure Kaiya’s Education and Health Care Plan (EHCP) was in place before she started primary school. It was Fountain’s guidance, their patience and deep knowledge of the education and schooling system, that helped us navigate this difficult process.
We are indebted to Ms Arike, and the Fountain team. They have made a profound and permanent impact on our family and they will always be credited as part of Our Team.
Edge Grove
We first visited Edge Grove in 2018, when Kaiya was four. We were so impressed with the countryside setting, the school’s core values, and how naturally those values were reflected in the students we met. However, we worried a 48 acre site would not work for a little person with physical challenges. That’s until we met the Head of Pre-Prep at the school. She listened intently, offered a constructive outlook, showed exceptional pastoral focus, and ultimately concluded, “whilst Kaiya can, let her enjoy our beautiful setting – we will look after her”. Delivered with such passion and heart, that promise convinced us that Edge Grove was the right place for Kaiya.
Seven years on, that promise remains strong and unwavering. Every day, Kaiya has been supported with kindness, individual planning and care, and an environment where she has been encouraged to participate and contribute without boundary. Furthermore, the school has never hesitated to make accessibility modifications across the physical site, ensuring she can safely navigate and enjoy her surroundings.
Over the years Kaiya has been fully immersed in school life. Edge Grove has played a critical and impactful role in her development and growth. She has attended school with an exemplary attendance record and arrives every morning, happy. Kaiya has participated in all lessons, including art, science, IT, and PE, some of which are thoughtfully adapted, she has developed a love for performing arts and been awarded parts in whole school theatre productions including High School Musical and Bugsy Malone, and she is well known and admired within the school community for her resilience and infection smile. Kaiya’s success is a true testament to all the staff and students at this incredible school, Edge Grove – a vital and cherished part of Our Team.
