Ehlers-Danlos Syndrome Research
Deciphering the Genetic and Molecular Foundations of EDS
The Ehlers-Danlos Syndromes
Ehlers-Danlos syndrome (EDS) is a group of genetic connective tissue disorders characterized by joint hypermobility, skin hyper-extensibility, and tissue fragility. There is phenotypic and genetic variation among the 14 subtypes. Professor Rodney Graham, a lead EDS expert, once said "No other condition in the history of modern medicine has been neglected in such a way as Ehlers-Danlos Syndrome."
The Norris lab is ready to change that.
Hypermobile Ehlers-Danlos Syndrome
The most common disease you've never heard of
Hypermobile EDS (hEDS) is the most common type of EDS, estimated to affect around 1 in 500 individuals, with varying degrees of severity and presentation. Despite its prevalence, hEDS has remained a neglected condition in the medical and scientific fields. To date, there are no treatments or cures for hEDS beyond symptom management.
Living with hEDS can be challenging, as it often involves a range of symptoms that vary from person to person. These can include:
Joint Hypermobility: Increased flexibility and range of motion in the joints, which can lead to joint instability and pain.
Chronic Pain: Persistent and often severe musculoskeletal pain that can affect daily life.
Skin Hyperextensibility: Skin that is more elastic and prone to easy bruising and scarring.
Fatigue: Overwhelming fatigue that is not relieved by rest.
Gastrointestinal Issues: Digestive problems, such as gastroparesis, irritable bowel syndrome (IBS) or gastroesophageal reflux disease (GERD).
Cardiovascular Symptoms: Mitrovalve prolapse, vascular compression syndromes, and blood pressure issues.
Comorbid Conditions: hEDS frequently occurs with conditions such as dysautonomia/POTS and mast cell activation disorder (MCAD).
Hypermobility Spectrum Disorder (HSD) is a related connective tissue disorder characterized by joint hypermobility, musculoskeletal symptoms, and connective tissue issues. HSD is diagnosed based on clinical evaluation and similarly to EDS, has a range of possible joint and systemic manifestations. Further research is needed to better understand HSD.
Current EDS Initiatives
EDS and HSD are related to a wide array of comorbid conditions, but comprehensive clinical overviews of these conditions are lacking in scientific literature. We are gathering a large data set of the multisystemic problems related to EDS and HSD to inform the direction of future research studies of EDS and HSD at the Norris Lab and beyond.
hEDS Genetic Registry
The Norris lab seeks to advance the understanding of hEDS through cutting-edge research into the genetic factors that underlie this complex condition. Through our comprehensive genetic registry and collaborative research efforts, we hope to improve diagnosis and treatment for individuals living with hEDS.
Ehlers-Danlos Mouse Models
Using state of the art CRISPR-Cas9 mediated genome editing, the Norris lab is working to develop mouse models of every subtype of Ehlers-Danlos. To advance the research into these diseases, we plan to make these mouse models available to other research institutions at no charge.
The Norris lab belives that patients are the experts in their own diseases and has pioneered the "patient scientist" model of research. We offer multiple opportunities for students with hEDS who have an interest in research or medicine to gain experience in the lab.