Single Cell RNA sequencing technology is a new technique that allows us to investigate gene expression in individual cells, rather than as a whole tissue.  We are using this method to investigate skin samples from women with hEDS compared to women without hypermobility or chronic pain. We can determine if certain cells are present in differing proportions and if they are expressing genes differently.  So far, we have collected skin punch biopsies from 18 women with hEDS and 12 women without hypermobility or chronic pain.

More information for this project coming soon.

We will conduct a transcriptomics evaluation two ways from skin samples. A portion of the samples will be used to generate a fibroblast cell line. Cells collected from the fibroblast cultures and cells of intact skin tissue will undergo transcriptome analysis by RNA sequencing. Individuals with hEDS will be compared to controls to identify differentially regulated genes and pathways.

We will conduct metabolome evaluation to determine differences in metabolite profiles between patients with hEDS and unaffected controls using blood serum. The metabolite profiling, also known as metabolomics, provides the most accurate representation of a disease phenotype as it includes all small molecules within a sample at time of collection - hormones, neurotransmitters, drug metabolites, small proteins, and more.

Hypermobile Ehlers Danlos Syndrome (hEDS) is an autosomal dominant connective tissue disorder without a known genetic cause that disproportionately affects women. Though this sex differential is recognized clinically, little research has been done to demonstrate the biological association between sex hormones and the presentation of symptoms in hEDS. This study assesses variations in sex hormones and daily symptoms to address which hormones may be contributing to increased symptom severity.

We performed depth interviews with participants on any symptoms experienced regardless of whether or not they have sought medical care. This data can help to provide a constellation of related symptoms that could group individuals with hEDS into subtypes based on primary symptoms, provide a natural history for the progression and regression of symptoms over time and at different ages, and provide a more succinct way of determining which patients have sufficient similarities to then compare their DNA.

This study is examining the pathways and barriers to diagnosis of individuals with EDS and how they may have experienced medical gaslighting as they navigate through the medical system and the consequences of that experience in their willingness to seek care.

More information for this project coming soon.

The hEDS GENE Study will conduct Whole Genome Sequencing on individuals with symptomatic hypermobility classified them according to the new 2017 criteria. We will also collect and sequence samples from their immediate family members to determine if there are any heritable variants in spelling changes.

A spinoff from the hEDS GENE Study is to assess changes in the Tenascin X (TNXB) gene previously identified in individuals with hEDS. The TNXB region contains two pseudogenes with sections that are indistinguishable from one another or the main gene of interest and is problematic to study using current genetic analytic tools.

Orthostatic intolerance and Postural Orthostatic Tachycardia Syndrome are common complaints in hEDS. These are representative of dysfunction in the autonomic nervous system (dysautonomia). We assessed biometric and blood markers of dysautonomia to assess their applicability in better understanding these symtpoms in hEDS.

The EDS Infobook is a collection of patient educational material on gastrointestinal symptoms, pain, autonomic dysfunction, sleep, and fatigue. Please click on the link to access.

Physical therapists and general practitioners are likely the first provider seen for complaints related to hEDS. We put together a working group to develop training and certification for awareness, recognition, and diagnostic provider expansion to increase comfort level and understanding of the components in the 2017 criteria for non-specialty practitioners. We created and piloted a one-hour course with continuing education credits and ultimately converted to short-form videos on the diagnostic checklist and the Beighton assessment available on the MARC-EDS website.

Using the information gained from the deep phenotyping study, we surveyed hEDS registry participants on which symptoms they experience and what therapies, if any, are used to mitigate those symptoms