About Us
Find out about who we are & what we do
Who we are...
Our Strategy
- 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 2021, during the pandemic John and Zoe’s daughter Frances began to have seizures. Though it was hard to decipher at first they worsened over the course of a couple of weeks. After many years of stacking diagnoses, therapies and trying to figure out how best to support her, doctors decided to do a panel to figure out the reason for her epilepsy. It was then discovered that she had a mutation called DHDDS.
After waiting several months for a genetic consultation, they were sent home with very little information on the condition and told that more would be known in the next 5-10 years. Since then they have been tirelessly reaching out to anyone who may be knowledgeable for better understanding and have read every paper there is. They realized advocating for these family members and children is time sensitive and absolutely necessary when dealing with neurodevelopment and degenerative disease.
They joined a Facebook group set up by Brenda Ramseyer-Cantlon and connected with another family in the UK, Mel & Charlie Dixon who have two children with DHDDS. They were in the process of building Curedhdds.org, and realized they were chasing many of the same researchers. They then decided to work together on various efforts to help their children and others so they will hopefully have better advice in the near future, as opposed to go home and wait. As with many rare diseases there is no-one coming to rescue us, we have to push for that change and we are seeing more hope within reach.
The facebook group continues to grow. Studies have begun, and we are here to guide and support anyone finding themselves with this new diagnosis, it can be isolating and scary, there is comfort in having a community and making progress for our loved ones.
Organizers
Zoe English
John Gourley
Scientific Advisors
OHSU Doernbecher Children’s Hospital
N. Lorem
Boston Children's Hospital
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 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.
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.
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. 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. 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. 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. 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.
Dr. Wendy Chung MD, PhD
Dr. Wendy Chung is the Kennedy Family Professor of Pediatrics in Medicine whose research relates to the genetic basis of a variety of human diseases including obesity, type 2 diabetes, congenital heart disease, cardiomyopathies, arrhythmias, Long QT syndrome, pulmonary hypertension, endocrinopathies, congenital diaphragmatic hernias, cleft lip/cleft palate, seizures, intellectual disabilities, autism, inherited metabolic conditions, rare disorders, and breast and pancreatic cancer susceptibility. She also works on the implementation of genomic and precision medicine. She is the director of the Pediatric Neuromuscular Network Molecular Core and the New York Obesity Center Molecular Genetics Core. She is the director of the Clinical Cancer Genetics program, DISCOVER, and the fellowship program in Cytogenetics and Molecular Genetics, and she supervises medical education in human genetics for Columbia University Medical School.
Special Thanks For Your Support
Diagnosis of DHDDS