Anonymous donor presents $1 million gift to The Ehlers-Danlos Society to jumpstart groundbreaking genomic research into genetic cause of hypermobile Ehlers-Danlos syndrome (hEDS), a rare, degenerative, and all-too-often disabling connective tissue disorder.
February 12, 2018 – BALTIMORE, MD – The Ehlers-Danlos Society has announced the largest single donation in its 33-year history to establish an international research network of leading physicians, geneticists, and other health professionals devoted to finding the underlying genetic markers for hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD).
FROM TRANSFORMATIONAL GIFT TO EHLERS-DANLOS ‘MOONSHOT’
The anonymous gift of $1 million dollars, represents the largest individual gift in the history of hypermobile EDS research.
“Because hypermobile Ehlers-Danlos lacks a known genetic cause, this truly has the potential to be a transformational gift,” states Lara Bloom, International Executive Director of The Ehlers-Danlos Society, a global leader in Ehlers-Danlos research, collaboration, and support.
“Through our donor’s extraordinary generosity, we are finally able to launch a virtual ‘moonshot’ in the advancement of our understanding into the most prevalent—and often most vexing—form of the Ehlers-Danlos syndromes,” declares Bloom.
LEVERAGING ADVANCEMENTS IN BIOTECHNOLOGY
“This research endeavor represents the most comprehensive, collaborative effort to date in seeking to understand the underlying causes of hypermobile Ehlers-Danlos syndrome at the level of genes and gene expression. If we can achieve a better understanding of the underlying genetics and the gene expression abnormalities, we may be able to develop diagnostic tests and find more specific treatments for hypermobile EDS—and, potentially, the hypermobility spectrum disorders,” states the donor, whose adult child is currently battling this too-often debilitating genetic disorder.
“We’ve made great strides in biotechnology over the last two decades and our ability to understand and find treatments for genetic syndromes is at a turning point. It’s time to move forward with detailed research into the underlying issues causing hEDS and HSD so we can know where to target therapy. This genome sequencing study is the next step in our overall project to make the hope of these new technologies a reality,” declares the generous donor.
BEYOND TESTING: MORE EFFECTIVE TREATMENTS AND HOPES FOR BETTER QUALITY OF LIFE
“We are tremendously grateful for this opportunity to rapidly accelerate our work in understanding the genetic mechanisms underlying hypermobile EDS and the hypermobility spectrum disorders. For far too long, physicians have struggled to provide the consistent diagnoses necessary to offer comprehensive, effective treatments to everyone affected by EDS and HSD,” states Clair Francomano, MD, chair of The Ehlers-Danlos Society’s Medical and Scientific board, chair of the International Consortium’s Classical EDS committee, and director of Ehlers-Danlos Society Center for Clinical Care and Research at The Harvey Institute of Human Genetics of the Greater Baltimore Medical Center (GBMC).
“Genetic research is not just a matter of being able to have an objective test, and help with family planning, but it may in fact guide us toward effective treatments in the future. The establishment of the Hypermobile EDS Genetic Research Network provides a framework for next-generation genetic discovery and understanding,” asserts the donor, whose daughter’s struggles with Ehlers-Danlos prompted involvement with The Ehlers-Danlos Society.
FROM CONSTANT PAIN TO A CALLING TO DO MORE
“Although our 29-year-old daughter has remarkable coping ability and good medical support, she is in constant pain. She also has fatigue, nausea, sleep disturbance, and anxiety. Everything she does or plans is affected by this condition,” emphasizes the donor.
“No others in our family have hEDS or HSD that we know, but I feel as if we all have it, because we think of her every day. At the same time, as I’ve learned about hEDS and HSD, I’ve become concerned not only about our own daughter, but also for the many people suffering from these problems around the world. The severity and prevalence of these syndromes is greatly underappreciated. It is possible that hEDS and HSD are a collection of distinct and different genetic syndromes with similar manifestations. If so, it’s important we understand this so we can pursue the appropriate research for each condition and make the best recommendations about family planning,” continues the donor.
GLOBAL COLLABORATION: THE HYPERMOBILE EDS GENETIC RESEARCH NETWORK
Consisting of leading authorities in fields ranging from human genetics to neurosurgery, the Hypermobile EDS Genetic Research Network will function as the nucleus for research design, data collection and analysis during the course of the genomic mapping. In addition to Dr. Francomano, the Network currently includes: Peter H. Byers, MD, medical geneticist and Professor of Pathology and Medicine at the University of Washington; Marco Castori, MD, PhD, Laboratory and Clinical Head of the Division of Medical Genetics at the IRCCS Casa Sollievo della Sofferenza Hospital in San Giovanni Rotondo, Foggia, Italy; Raymond Dalgleish, PhD, Chair of Human Genetics at the University of Leicester; Harry “Hal” Dietz, MD, professor of pediatrics, associate professor of medicine, assistant professor of neurological surgery at the Johns Hopkins University School of Medicine; Christina M. Laukaitis, MD, PhD, Assistant Professor of Cancer Biology, Genetics, and Nutritional Sciences, Director, Division of Genetic Consultation and Counseling Associate Professor of Medicine at University of Arizona College of Medicine; Roberto Mendoza, MD, MSc, FCCMG, FRCPC, Interim Division Chief, Clinical and Metabolic Genetics, The Hospital for Sick Children, Associate Professor of Molecular Genetics and Microbiology and Paediatrics, and Associate Member, Graduate Department of Molecular and Medical Genetics, University of Toronto; Brendan Lee, MD, PhD, Robert and Janice McNair Endowed Chair, Professor, and Chairman of the Department of Molecular and Human Genetics, Director of the Center for Skeletal Medicine and Biology at Baylor College of Medicine, and co-Director of the Texas Medical Center Bone Disease Program of Texas; Fransiska Malfait, MD, PhD, Chair, Medical and Scientific Board of The Ehlers-Danlos Society, President of The International Consortium on Ehlers-Danlos Syndromes, Clinical Researcher, Center for Medical Genetics, University of Ghent; Brad Tinkle, MD, PhD, Medical Director of Clinical Genetics at the Advocate Children’s Hospital and the Advocate Medical Group; and Anthony Vandersteen, MA, PhD, BM, FRCP, staff physician, Maritime Medical Genetics Service at the IWK Health centre in Halifax, Nova Scotia and assistant professor at Dalhousie University.
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ABOUT THE EHLERS-DANLOS SOCIETY
The Ehlers-Danlos Society is a global community of patients, caregivers, health care professionals, and supporters, dedicated to saving and improving the lives of those affected by the Ehlers-Danlos syndromes, hypermobility spectrum disorders, and related conditions.
With offices in the US and the UK, we support collaborative research and education initiatives, awareness campaigns, advocacy, community-building, and care for the EDS and HSD population.
The Ehlers-Danlos Society seeks to grow world-wide awareness—and a better quality of life for all who suffer from these conditions. Research is at the center of what we do, so that one day we will have a cure.
ABOUT THE EHLERS-DANLOS SYNDROMES AND HYPERMOBILITY SPECTRUM DISORDERS
The Ehlers-Danlos syndromes (EDS) are a group of 13 heritable connective tissue gene disorders that produce a spectrum of complex problems across multiple systems of the body. The physical characteristics that are common to all types of EDS include hypermobile joints, skin hyperextensibility, and tissue fragility. EDS are known to affect more than one in 5,000 men and women, of every race and ethnicity.
Each person’s case of Ehlers-Danlos syndrome is unique. Severity may range dramatically, even within families. Prognosis depends on the type of Ehlers-Danlos syndrome and the individual.
Hypermobile Ehlers-Danlos Syndrome (hEDS)
Hypermobile EDS (hEDS) typically begins with extreme joint hypermobility, joints which can stretch beyond normal limits; a propensity for sprains, strains, subluxations, and dislocations; pain, often in lower limbs, and with fine motor or repetitive tasks; and easy fatigability.
Although each person with hEDS faces their own set of problems out of the wide range of possible effects, hEDS generally evolves over time. The initial “hypermobility” phase may involve the ability to hyperextend various body parts to extremes normally attributed to contortionists, gymnasts, or elite dancers. Over time, the extreme hypermobility and connective tissue instability of hypermobile EDS may lead to permanent injuries. The “pain” phase involves widespread and worsening pain and headache; pelvic pain in women; and worsened fatigue. The “stiffness” phase seen in some adults and in the elderly results in general reduction in joint hypermobility; significant losses in functionality because of disabling pain and fatigue; and increased limitations, due to reduced muscle mass and weakness, prior injuries, and arthritis.
Although certain features are not yet in the diagnostic criteria, as more research is needed to prove causation and the relationships between the hEDS and potential comorbidities, clinical descriptions of hEDS have expanded beyond joint hypermobility to include: chronic pain and fatigue, gastrointestinal disorders, neurological issues, dysautonomia, and anxiety. As of this time, hypermobile EDS has no identified distinctive cause.
Hypermobility Spectrum Disorders (HSD)
The hypermobility spectrum disorders (HSD) describe patients with symptomatic joint hypermobility not corresponding to other known conditions. The spectrum of HSD ranges from secondary musculoskeletal manifestations, and a simplified categorization of genetic syndromes featuring joint hypermobility.
Vascular Ehlers-Danlos Syndrome (vEDS)
Life expectancy can be significantly shortened for those with the Vascular Ehlers-Danlos syndrome (vEDS) due to potential for organ and/or blood vessel rupture. While significantly diminished life expectancy is not usually a factor in the other types, quality of life can be severely affected by chronic pain, disability, and myriad comorbidities. There are no cures for the Ehlers-Danlos syndromes, but there are treatments which address many symptoms and preventative measures that may help slow their progression.