About Us
Find out about who we are & what we do
Who we are...
Cure DHDDS is founded by parents of children diagnosed with a DHDDS gene mutation. We are not scientists or medical professionals but parents trying to find the best way of helping our children.
Our mission is to support families diagnosed with DHDDS gene mutations, help drive research into these little-known mutations, and help find treatments so that those affected by variants in the DHDDS gene can lead the best life possible. Our vision is a world where there is a cure for everyone with a DHDDS variant.
Our Strategy
We will achieve our mission by:
- Bringing the DHDDS & NUS1 community together. We will provide support for our existing DHDDS community, whilst also finding more individuals that carry DHDDS & NUS1 mutations. We hope that this will improve our knowledge of the spectrum of symptoms and enable us to better understand why the DHDDS & NUS1 variants manifest differently in individuals.
- Educating, informing and raising public awareness of the DHDDS mutations.
- Building connections with scientists and researchers so that we can aid understanding of these mutations and work with them to help find potential treatments to improve the lives of those living with DHDDS mutations.
We also have a private Facebook group Cure DHDDS & nUS1 community for patients who carry the mutations, and medical professionals involved in DHDDS and NUS1 research.
Our Team
In 2022, after many years of tests and appointments Mel and Charlie discovered that two of their children carried a DHDDS mutation.
Armed with very little information on the condition they took to Google to find out what it meant and soon realised they were dealing with a newly discovered disorder which still had a lot of questions surrounding its causes and evolution.
They joined a Facebook group set up by Brenda Ramseyer-Cantlon another parent whose daughter had a DHDDS mutation. From a group of 3 parents they have now grown to encompass both individuals who carry DHDDS mutations and researchers and scientists who are studying it.
The group continues to grow. Now in 2023 they have set up the charity Cure DHDDS which is run entirely by families and volunteers.
CEO & Founder
Mel founded Cure DHDDS in April 2023 after discovering that two of her three children carry a DHDDS gene mutation. Since establishing the charity, she has become a leading voice within the rare disease community, speaking at conferences and serving on expert panels.
She has organised biannual scientific exchange meetings, bringing together the global scientific community to accelerate collaboration and progress.
Mel also plays a key role in supporting and growing the DHDDS patient community, ensuring families have information, connection, and advocacy.
She has led impactful fundraising initiatives to advance research and treatment development and brings urgency, determination, and unwavering commitment to the charity’s work every day.
In addition, Mel is a member of the Genomics England Participant Panel, a trustee of CDG UK, a member of the LSD Collaborative, and serves on the Lived Experience Advisory Panel for the Acceleration of Rare Disease Trials programme with LifeArc.
Trustees
Ian Roberts
Charlie Dixon
Penny Brogan
Louise Townley
Katie McCombe
Victoria Allan
Scientific Advisors
Dr Takis Athanasopoulos - CEO & Founder of Gene & Cell Ltd, Director of Strategy Consulting at Ingenious e-Brain Solutions & Non-exec Director at KonAnBio
Dr Takis Athanasopoulos is currently the CEO and Founder of Gene & Cell Ltd., a London-based CGT Consulting firm. He is also acting as Director of Strategy Consulting at Ingenious e-Brain Solutions and Non-exec Director at KonAnBio. He was previously appointed as VP of Gene Therapy Research & Vector Technology, at Vigeneron GmbH, Munich, Germany. Prior to joining Vigeneron, Takis has previously held leadership positions at GSK (Sep 2016-Mar 2023). For 6.5 years he has acted as Director & Head of various functional CGT GSK units i.e., Vector Innovation/Vector Development (LV, AAV), Patient Operations, Transgene Delivery and Vector & Transgene Units, as part of Cell & Gene Therapy (CGT), Medicinal Science & Technology (MST) platform of GSK at Stevenage, UK. Takis was previously a Lecturer in Molecular Biotechnology at the University of Wolverhampton (September 2011-2016) and Academic Visitor/Research Consultant for the Gene Therapy Group at Royal Holloway University of London (RHUL). He holds a BSc in Biochemistry from the University of Patras, Greece, and a PhD in Biomedical Sciences from University of London. .
Dr. Felix Chan - Lecturer in Neuroscience at Aston University, School of Pharmacy
Dr. Felix Chan is a Lecturer in Neuroscience at Aston University, School of Pharmacy. Felix’ main research interest is in metabolism in epilepsy. Felix did his undergraduate in medical sciences at Universitas Indonesia in Jakarta, Indonesia, from 2008 to 2011. He then moved to Newcastle University to do an M.Res in Neuroscience. This continued as a PhD in Neuroscience from 2012 to 2018, where Felix developed the first-ever in vitrobrain slice model of mitochondrial epilepsy, characterising the importance of glutamine metabolism in this type of epilepsy. Felix then moved to Brown University to do a postdoctoral training, working on pediatric focal epilepsy. His work on TSC was awarded many accolades, including a prestigious NIH DSC-TSC Alliance Young Investigator Fellowship award and the American Epilepsy Society Young Investigator Award in 2020. Felix moved to Aston in September 2022 to establish his research group, Chan Lab.
Dr. Frances Elmslie - Clinical Lead at St George’s and Clinical Director of South East Genomic Medicine Service Alliance
Dr Elmslie initially trained in paediatric medicine in hospitals across South West England and in clinical genetics at both Great Ormond Street and St George’s Hospital. During the course of her training, she undertook research into the genetics of juvenile myoclonic epilepsy. She was appointed as a Consultant Clinical Geneticist at Guy’s and St Thomas’s Hospitals, moving to St George’s in 2003. She is clinical lead for the service at St George’s as well as Clinical Director of the South East Genomic Medicine Service Alliance leading a team that aims to embed genomics into routine patient care. She has held a number of senior management positions including Chair of the Clinical Reference Group for Genetics at NHS England from 2017 – 2020 and President of the Clinical Genetics Society from 2019 – 2021. Her research interest in epilepsy has translated into a specialist clinical interest. She leads the St George’s Tuberous Sclerosis Complex (TSC) clinic, the largest such clinic in the UK. St George’s was the first centre in the UK to establish a treatment clinic for patients with TSC and the clinic now has over 100 patients receiving therapy with an mTOR inhibitor. Dr Elmslie was the lead applicant on the submission to establish an NHS England Rare Disease Collaborative Network for TSC, and the clinic network was awarded this status in January 2023. She was invited to take up the role of Vice-Chair of the patient charity, the Tuberous Sclerosis Association in December 2022. Dr Elmslie is a Co-Investigator for the NIHR/MRC funded Rare Disease Node in mTOR pathway disorders which is in the early stages of implementation.
Dr. Heather Flanagan-Steet Director of Functional Studies, Greenwood Genetic Centre
Dr. Flanagan-Steet received her PhD in molecular, cellular and developmental biology from the University of Colorado in 2000. She did her post-doctoral training in neurobiology with Dr. Josh Sanes at Washington University in St. Louis, where she learned the power of the zebrafish system. In 2006 along with her husband, Dr. Richard Steet, Dr. Flanagan-Steet joined the faculty at the University of Georgia. Dr. Flanagan-Steet's research has largely focused on defining the mechanisms governing early tissue development. This has ranged from investigating how neuromuscular synapses form to development of the embryonic heart and craniofacial skeleton. For the last fifteen years Dr. Flanagan-Steet’s efforts have centered on defining the molecular and cellular mechanisms underlying pathogenesis of rare genetic diseases. This has included several lysosomal storage disorders (LSDs) as well as the congenital disorders of glycosylation (CDGs). Her work on genetic diseases has largely involved generating zebrafish models to investigate gene function and disease pathogenesis. This work pioneered the use of zebrafish to model rare inherited diseases, bringing new insight into the molecular initiators and mechanisms underlying pathogenesis of mucolipidosis II and PMM2-CDG. Using a zebrafish model of PMM2-CDG, Dr. Flanagan-Steet’s group recently defined the first known mechanism associated with impaired tissue development in the context of a CDG. The success of these studies has been augmented by her long -time collaboration with her colleague and spouse, Dr. Richard Steet. In 2018 Dr. Flanagan-Steet accepted the position of Director of Functional Studies at the Greenwood Genetic Center. Dr. Flanagan-Steet works closely with the Center’s team of physicians and clinical scientists to advance our understanding of the mechanisms driving pathology in rare diseases, using this information to identify and test new therapies.
Dr Serena Galosi – Sapienza University of Rome
Dr Serena Galosi is Assistant Professor in Pediatric Neurology and Childhood and Adolescence Psychiatry at the Department of Human Neuroscience of Sapienza University in Rome. Her clinical and research activity focus on paediatric rare movement disorders of neurometabolic and neurogenetic nature, including treatable and neurodegenerative disorders. Her Institution has a longstanding commitment to the study of rare movement disorders and neurometabolic disorders, and is a full partner of the ERN for metabolic disorders (MetabERN). She is an active member of the International Parkinson and Movement Disorder Society (MDS) from 2016.
Dr Rajvinder Karda is an Associate Professor at the Institute for Women’s Health, University College London
Dr. Karda leads a research team which focus on developing pre-clinical gene therapy and RNA editing treatments for childhood genetic epilepsies. She also collaborates on gene therapy pre-clinical studies for inherited childhood neurometabolic disorders. She is currently a board member of the British Gene and Cell Therapy Society & a member of the Scientific Advisory Committee for Dravet Syndrome Foundation, Spain.
Professor Emyr Lloyd Evans, Cardiff University
Professor Emyr Lloyd Evans’ first degree was an undergraduate masters in Biochemistry (M.Biochem) at the University of Bath. During this degree he spent 11 months (2 successive placements) in the lab of Prof. Tony Futerman at the Weizmann Institute of Science, Rehovot, Israel. It was here that he gained an interest in lysosomal storage diseases, researching the role of altered endoplasmic reticulum Ca2+ homeostasis in Gaucher disease. Following his degree in 2002 he moved to Oxford to do his DPhil with Prof. Fran Platt at the Glycobiology Institute. Here he researched the role of the simple sphingolipid sphingosine in the pathogenesis of Niemann-Pick type C1. Upon completion of his DPhil In 2005, he moved with Fran to the Department of Pharmacology (Oxford) where, in collaboration with Prof. Antony Galione, they developed techniques to study lysosomal Ca2+ homeostasis in the lysosomal diseases. In 2010 he was appointed as an RCUK Fellow at the School of Biosciences, Cardiff University, to continue his research into lysosomal function.
Dr. Michael Lyons - Pediatrician and Associate Clinical Geneticist, Greenwood Genetic Center - Charleston Office
Dr. Lyons is the Director of Clinical Services at GGC and is actively involved in the clinical evaluation of genetic conditions in individuals of all ages. His areas of interest include telegenetics, dysmorphology, single gene disorders, genetics education, and treatment of genetic disorders. Dr. Lyons has diagnosed and followed numerous patients with congenital disorders of glycosylation with a particular interest in the clinical features associated with variants in the NUS1 gene.
Dr Alberto Malerba - Lecturer in Gene therapy - Royal Holloway, University of London
Dr. Malerba was awarded a PhD in Biotechnology for his research on the role of inflammatory cells in muscle regeneration. He joined the Gene Therapy Laboratory at Royal Holloway, University of London, in 2007 and has since contributed to the development of novel gene therapy agents and antisense therapeutics for the treatment of rare neuromuscular diseases.
Initially, he focused on developing antisense reagents for the treatment of Duchenne muscular dystrophy, a rare neuromuscular condition affecting children. His work was instrumental in optimizing the dosing regimens used in the phase II/III clinical trial of morpholino exon skipping for this disease. He later worked as an independent research fellow at the Royal Veterinary College in London, where he developed a scientific program focused on new splicing-modulating molecules for the treatment of cardiovascular diseases.
In 2013, he rejoined the Gene Therapy Laboratory at Royal Holloway as a project manager, working on the optimization of gene therapies and antisense therapeutics for various muscular dystrophies. His work was crucial in developing, in collaboration with Benitec Biopharma, a gene therapy AAV vector for Oculopharyngeal Muscular Dystrophy (OPMD), a rare muscle proteinopathy, which entered a first-in-human phase I/II clinical trial in 2023.
He has also collaborated on the development of a gene therapy application for Duchenne muscular dystrophy, now in a clinical trial sponsored by Genethon in France and the UK. He is currently leading the Gene Medicine Laboratory for Rare Diseases at Royal Holloway.
Dr Eva Morava-Kozicz - Mayo Clinic
Eva Morava-Kozicz, M.D., Ph.D., conducts translational research in mitochondrial disorders and congenital disorders of glycosylation (CDGs). Dr. Morava is actively involved in developing dietary therapies in genetic disorders and is the principal investigator of a multicenter study on the natural history of CDG.
Frances M. Platt - Professor of Biochemistry & Pharmacology and Head of the Department of Pharmacology - University of Oxford
Frances M. Platt is Professor of Biochemistry and Pharmacology and Head of the Department of Pharmacology at the University of Oxford, UK. She received her PhD in Animal Physiology from the University of Bath, UK. After completing postdoctoral training at Washington University Medical School, St. Louis, she joined the faculty at the University of Oxford and was the recipient of a five-year Lister Institute Senior Research Fellowship. Her expertise relates to glycosphingolipids (GSL) and in particular glycosphingolipid (GSL) lysosomal storage diseases. She and her colleagues pioneered a novel approach to treat these inherited diseases that led to the development of an approved drug (miglustat) for type 1 Gaucher disease and Niemann-Pick disease type C disease. She was awarded the Alan Gordon Memorial award from the UK Gaucher Association, the Horst-Bickel Award in recognition of her role in developing substrate reduction therapy for lysosomal disorders and the “Above and Beyond” award from National Tay-Sachs and Allied Diseases USA. She was also awarded the Thudichum medal by the Biochemical Society in 2023 for her contribution to sphingolipid research. She serves on the advisory board of multiple lysosomal storage disease charities and organizations (UK and USA). She was elected Fellow of the Academy of Medical Sciences in 2011 and Fellow of the Royal Society in 2021. She is an academic co-founder of the company IntraBio and her translational work has continued as the companies lead drug Aqneursa was FDA approved in 2024 for the treatment of Niemann-Pick disease type C..
Richard Steet, Ph.D. Director of Research -Greenwood Genetic Centre
Dr. Steet's research interests lie at the intersection of glycobiology, lysosomal biology and human disease. His current focus is aimed at defining the pathogenic mechanisms that underlie the lysosomal storage disorders (LSDs) and congenital disorders of glycosylation (CDGs). His laboratory employs a powerful combination of genetic, biochemical and cell biological methods to uncover the pathogenic cascades of these disorders and explore new ways to treat them. He began his independent career at the Complex Carbohydrate Research Centre at the University of Georgia in 2006 and moved to the Greenwood Genetic Centre in 2018 to more closely pursue research on rare human genetic disorders. In his current role as the Director of Research at GGC, Dr. Steet guides efforts focused on supporting the clinical and diagnostic arms of the Center with functional studies, maintaining a strong, independently-funded program in LSDs and CDGs, and actively developing strategic partnerships with advocacy groups, universities and pharmaceutical companies to advance our understanding of genetic disorders. He serves on the scientific advisory boards for multiple rare disease organizations.
Dr. Charles Steward - Head of Patient and Participant Engagement at Genomics England
Dr. Steward has spent around 30 years’ working with the human genome and for the past 10 years, specifically on rare neurological diseases on the Wellcome Genome Campus, Cambridge UK and since 2022 at Genomics England, UK. Charles spent 22 years at the Wellcome Sanger Institute, which is where he did his PhD and has co-authored numerous publications including at least 20 in Nature journals. Charles led the initial human chromosome 10 analysis, published in Nature (Deloukas et al., 2004) and led an international collaboration investigating the genomic basis of developmental and epileptic encephalopathies, published in npj Genomic Medicine (Steward et al., 2019). Charles is a scientific and patient engagement advisor to several patient groups and is a member of the Governance Council for the International Cerebral Palsy Genomics Consortium. Charles is also the father of two children with severe neurological disorders who have been through numerous UK-based genomic studies, including the 100000 Genomes Project. He has served as a member of Genomics England’s Participant Panel and the USA-based Simons Searchlight Community Advisory Committee. He is passionate about how patient advocacy and engagement can drive positive change for people, families and caregivers affected by rare genetic disorders.
Priv.-Doz. Dr Christian Thiel -University of Heidelberg
Christian THIEL, Ph.D., is a biochemist and group leader of the section for `Glycosylation deficiencies´ at the `Center for Child and Adolescent Medicine´ at the University of Heidelberg. He is a private lecturer at the Medical Faculty and is also lecturing at the Biological Faculty of the University Heidelberg. Christian Thiel is working in the field of CDG since 1999 and has established Heidelberg to one of the major centres for the investigation of glycosylation defects in Germany. He is interested in the identification of new molecular mechanisms of glycosylation deficiencies in human as well as in unravelling pathophysiological mechanisms underlying these defects to investigate new therapeutic approaches for CDG. The CDG group Heidelberg was decisively involved in the identification of the molecular mechanisms of several CDG disorders. He is an active member of the German CDG family organisation `GlycoKids´ for more than twenty years. .
Jenny Taylor - University of Oxford
Jenny Taylor is Professor of Translational Genomics at University of Oxford and Co-Theme Leader of the Oxford Biomedical Research Centre's Genomic Medicine Theme, a translational programme funded by the UK’s National Institute of Health Research based at the University of Oxford’s Centre for Human Genetics.
Jenny’s research focuses on the application of whole genome sequencing (WGS) to the diagnosis of rare genetic diseases and cancer, and investigation of novel disease genes emerging, applying a range of functional approaches. She is also involved in several major new initiatives to use genomics-led approaches to inform development of nucleic acid therapeutics for rare disease patients, including the Oxford Harrington Centre, the Rare Therapies Launch Pad, the and the MRC Centre of Research Excellence in Therapeutic Genomics..
Diagnosis of DHDDS
Identification of DHDDS mutations tends to be made either via whole exome sequencing (WES) or whole genome sequencing (WGS). Your medical professional should order these genetic tests if they suspect your symptoms may be caused by a genetic mutation such as the DHDDS mutations.