NHS England IWMD leukodystrophy professionals

Having started her NHS career working for adult cancer services in 2017, after previously completing a degree and practitioners’ course in counselling and psychotherapy. Jade then moved across to paediatric neurology in early 2021 and started her role as white matter service coordinator at the point in which the national service was launched.

During her time within the white matter service Jade has been an integral member of the white matter team, forming communication strategies to increase awareness of the service, organising and taking part in annual white matter study days, keeping in direct contact with clinical trials teams and she is currently working on am IWMD document repository to aid communication of new models of care and tools to support the patient journey with the other specialist centres as one united national service. Jade handles all data entry, including adding patients to the IWMD registry, is a point of contact for parents/carers, and attends all white matter clinics to foster positive relationships with families.

As a student nurse I privately cared for a little girl with metachromatic leukodystrophy, I became so close to the family, and I was lucky enough to feel like I even became part of the extended family. I saw the day-to-day struggles which are faced by families and children affected by leukodystrophy, the toll this condition can have on all aspects of life and the importance of excellent support.

Following graduation as a nurse, this experience has influenced my career, starting off on the Neurosciences ward at Great Ormond Street Hospital, which subsequently prepared me for a role as Clinical Nurse Specialist in Neurology at the Royal London Hospital which has lead me to my current role as Clinical Nurse Specialist for the Inherited White Matter Disorder team at Birmingham Children’s Hospital. It is an honour to be able to work so closely with families affected by Leukodystrophy, to be able to provide support and to meet so many incredible and courageous children and parents, whilst always keeping the memory of the special little girl in my heart.

Hannah Geldart is the Inherited White Matter Disorders Children’s Nurse Specialist for Leeds and Manchester. The role allows Hannah to use her experience in Neuroscience Nursing to provide clinical knowledge and psychosocial support with day-to-day life for her patients and families. She works alongside a multidisciplinary team and is presently developing an IWMD nursing service which families find valuable.

Hannah has a BSc in Children’s Nursing from the University of Leeds which she obtained in 2009 and her clinical background spans 15 years of working in Paediatric surgery and Neurosciences as a staff nurse and ward sister. She has been a member of the National Paediatric Neurosciences Benchmarking group and helped develop neuroscience competencies that are used across the UK. She worked with the Operational Delivery Network to set up and co – host a family support group.

Having trained as a paediatric neurologist under the supervision of Professor John Livingston at Leeds Teaching Hospitals Trust Lydia gained a wealth of experience in the diagnosis and management of leukodystrophy before taking over as joint lead for the National service for the North of England in 2023.

Alongside her clinical work she is undertaking a part-time PhD investigating the neurogenetics of inherited leukodystrophies, developing bioinformatic pipelines for patients where NHS whole genome sequencing has not found a cause. Within her local clinic Lydia and the white matter team have introduced a range of tools to support the often-difficult patient journey including patient passports to aid communication, standardised neuropsychology/neurocognitive assessments  and are working with teams across the UK to develop standards of care for all patients.

Dr Cheryl Hemingway has been a Consultant Paediatric Neurologist for over 25 years. She has worked and trained in paediatric neurology at Red Cross Children’s Hospital, South Africa; Johns Hopkins, USA and in the UK, and has been a full time Neurology Consultant at Great Ormond Street Children’s Hospital (GOSH) from 2006.

Her PhD from Imperial College, London used RNA array technology to explore the host immune response to brain inflammation, and she has used the expertise gained from this to provide specialised clinical care to children with rare acquired and inherited white matter disorders. She leads the national Inherited White Matter Disorders Service at GOSH as well as the highly specialist Neuroinflammatory Disease Service. She runs a joint clinic with rheumatology caring for patients with both brain and systemic inflammation, such as those with Aicardi Goutieres Syndrome (AGS). She is also research active, with a number of recent important publications and has been PI and Co-PI at GOSH for both AGS and MS trials.

Shagufta Khan Senior Genetic Counsellor at Birmingham Women’s and Children’s Hospital.  Having worked within the Clinical Genetics Department for over 20yrs and extensively counselled families with rare Metabolic and Neurometabolic disease’s.

Shagufta has expert knowledge and specialism in providing guidance in recessively inherited rare conditions, having participated in numerous trial’s and studies over the years, and delivered a culturally sensitive service. She has  looked after patients who have very little knowledge or understanding of their genetic diagnosis. delivering genetic clinics three times a month to patients referred from the Metabolic and Neurometabolic team as well as a variety of specialties from around the West Midlands, patients seen at Birmingham Children’s hospital both in multi-disciplinary clinics as well as exclusive patient centred genetics clinics. Working closely with our multidisciplinary colleagues means we have an excellent method of discussing and following up patients who may need more genetic input.

Shagufta has over the years counselled families regarding in depth understanding of their inheritance pattern, recurrence risks, their reproductive options and cascade screening for the wider family, having made a number of contributions to a number of papers and lead genetic counsellor in research studies such as the recent Preconception Optimised Exome Testing (POET) to offer preconception counselling and  testing to families particularly in communities with rare genetic conditions such as Morquio syndrome, WWOX  and MTO1. As a Senior Genetic Counsellor, I have been in a privileged position to be able to integrate genomic developments into routine clinical care with the aim of improved equal access to genomic diagnosis, testing and screening.

“I am really fortunate and very proud to have the opportunity to counsel the families with rare genetic disorders and to offer them the opportunity to make informed decisions with the advances being made in genomic testing”.

Dr David Lynch is a consultant neurologist at the National Hospital for Neurology & Neurosurgery at Queen Square, London. He completed his fellowship and PhD in neurogenetics at University College London in 2017. He focuses on the genetics of neurodegenerative diseases,  in particular the Inherited White Matter Disorders, or leukodystrophies. He helped to design and now runs the adult division of the UK’s national Highly Specialist Service (HSS) for Inherited White Matter Disorders. This is an expert diagnostic and management service aiming to improve the care of patients living with leukodystrophies across the UK.

Dr Lynch is active in research, particularly on clinical aspects and imaging of leukodystrophies. He edited the forthcoming edition of the Handbook of Clinical Neurology: Inherited White Matter Disorders & Their Mimics, as well as >40 peer reviewed publications and numerous book chapters on the topic. He is the principal investigator on a number of clinical trials for CSF1R-related disorder.

Dr Naik has been working as a Consultant Clinical Geneticist at Birmingham Women’s and Children’s Hospital for the last 10 years. She has completed her medical degree and post-graduation in Paediatrics from University of Mumbai. After completion of MRCPCH from Royal College of Paediatrics and Child Health, London, Dr Naik pursued her specialist training in Clinical Genetics at London and Southampton.

Dr Naik is passionate about obtaining genetic diagnosis in various Rare disorders and her areas of interest are: Paediatric Neurology and Neurometabolic, Paediatric Developmental disorders and Dysmorphology. Dr Naik is also experienced in diagnosis of monogenic disorders in acute settings and has an extensive experience of diagnosing and managing babies and children with a genetic diagnosis in Neonatal Intensive and Paediatric Intensive Care settings. She is a Lead for Rapid Genome Sequencing service for West Midlands. She is co-chair and organiser of cross- regional dysmorphology and audit meetings.

Dr Naik works in close collaboration with the Paediatric Neurology and Metabolic team to deliver the care for Inherited White matter disorder patients.

“I am so privileged to join the enthusiastic, highly motivated, dedicated and hard-working team of Paediatric Neurologists and Metabolic colleagues to look after children with Inherited White Matter Disorders and other neurodegenerative disorders. My long-term goal is to improve the genetic diagnostic odyssey in this cohort so that many patients would benefit from future treatment possibilities including clinical trials and gene therapies.”

Dr Parida has worked at Birmingham Children’s Hospital since 2017. He has a particular interest in Neurogenetics particularly Neurometabolic and Inherited White Matter Disease. He also has an interest in acquired neuroinflammatory disorders.

Dr Parida is passionate about achieving a clear and early diagnosis in children with rare and often devastating neurological conditions. He has played a role through the Genomic Medicine Service Alliance (GMSA) in mainstreaming whole genome sequencing within Pediatrics in the West Midlands with the aim of shorting the diagnostic odyssey that many children and families with rare disease go through.

Dr Parida is also passionate about integrating research into clinical practice. He has been the Principal Investigation for the AGS-RTI study looking at the role of anti-retroviral drugs in the treatment of Aicardi-Goutières’ Syndrome. He has also been involved in setting up a dedicated research clinic offering long read sequencing to young people with suspected genetic conditions where no cause has been identified on conventional short read whole genome sequencing.

Dr Parida has published and presented several review and original research papers in the fields of neurogenetics, neuroinflammation, stroke and epilepsy.  He has been an invited lecturer on several occasions at a national and regional level.

Dr Dipak Ram is a Consultant Paediatric Neurologist in Royal Manchester Children’s Hospital. He is the neurology clinical lead for neurometabolic services in the North West of England.

Dr Ram is part of the global MLD initiative (MLDI) network and involved in active research collaboration internationally, including newborn screening for MLD. He leads the NHSE commissioned inherited white matter disorders (IWMD) service in Manchester. Dr Ram is also part of NHS England’s recently commissioned Libmeldy service in the UK, based in Manchester. He is involved in various national and international trials for rare neurodegenerative disorders. As part of his interest in education, Dr Ram is the current National Training Advisor for Paediatric Neurology training in the UK.

Dr Rahul Singh trained in paediatric neurology in London and is now a consultant paediatric neurologist at Guys and St.Thomas’ Hospital, Evelina London Children’s Hospital, London since April 2015. He specialises in Neonatal and Fetal neurology, Neonatal stroke, Encephalitis/Encephalopathy, Neonatal epilepsies, Channelopathy and also Neonatal Neuromuscular diseases as well as fetal brain malformations.

He continues to have interest in inflammatory brain disorders, inherited and acquired white matter diseases in children, IIH and paediatric stroke. He works closely with the white matter disease team and is involved in trials with Opsoclonus Myoclonus syndrome and is setting up regional one stop Leukodystrophy MDT services at Evelina London Children’s hospital. He is postgraduate education lead for neurology trainees and a keen educator, alongside aspiring to spread knowledge of paediatric neurology to the developing world.

Dr Srividya Sreekantam is a consultant in Paediatric Inherited Metabolic Disorders at the Birmingham Women’s and Children’s Hospital NHS Trust [BWC], United Kingdom, since 2017. She is an honorary consultant in the Paediatric Metabolic Service for South Wales, since 2022 and a clinician representative in the metabolic clinical reference group [CRG].

Her major interests include quality improvement and patient experience, and she led on the national patient experience workstream for the Lysosomal Storage Disorders’ Service. She enjoys her collaborative work with patient support organisations such as the AGSD [Association of Glycogen Storage Disorders] and the MSUK [Metabolic Support UK] and an active member on the working group committee for the ‘’Think Ammonia’’ campaign organised by the MSUK. She is the metabolic representative from BWC, for the National Inherited White Matter disorders service and works along with three other metabolic consultants in providing expert input to the service.

BWC inherited metabolic disorders team works in close collaboration with neurologists, clinical geneticists, and radiologists with expertise in neurometabolic disorders to deliver patient centred care. Team has effectively used the recent advances in genomic testing to aid diagnoses and actively recruited patients with metachromatic leukodystrophy for the EMBOLDEN trial, mitochondrial disorders for the Mito cohort and the Musketeers study. Our advanced nurse practitioners lead on the delivery of intracerebroventricular enzyme replacement therapy for our patients with CLN2. BWC takes pride in offering a unique neurometabolic service provision and continuously strives to deliver world class care to its patients.

Prof. Evangeline Wassmer is a Consultant Paediatric Neurologist at Birmingham Children’s Hospital. She has led the neuroinflammatory and neurometabolic service there since 2004. Her medical degree is from the University of Amsterdam. Paediatric and Neurology training was done in the West Midlands and at the Hospital for Sick Children in Toronto, Canada.

Over the years, she has looked after many children with white matter disorders in the twice-weekly multidisciplinary clinic with genetic and metabolic colleagues. The team have experience with novel treatments such as Brineura to treat CLN2 and stem cell treatment for late-onset Krabbe Disease. She has made contributions to several national and international research groups defining the phenotype, enabling early diagnosis, and defining the clinical course of these rare conditions including peroxisomal, Pelizaeus-Merzbacher, Aicardi Goutieres Syndrome, Vanishing White Matter Disease, TUBB4A–related leukodystrophy and 4H syndrome. The team have embraced the potential of genetics early in research facilitating diagnosis by participating in the 100K project as well as the Bioresource study. This translational research of bringing the clinic to the bench has led to several novel disorders being described in the literature.

She has been an investigator in several multi-center studies including white matter disorder such as Aicardi Goutieres Syndrome.

“I have the privilege to look after children with neurometabolic, inherited white matter disorders and other neurodegenerative disorders. My long-term goal is to improve their treatment and care in the UK and internationally”.

’20+ years of working in the NHS’

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”I travel so my life isn’t disrupted by routine”