Family Genetics

We are using whole exome sequencing (WES) to understand genetic changes that contribute to hEDS within families that have enrolled in our hEDS registry. By studying the genetic makeup of affected individuals as well as their unaffected relatives, we aim to identify key genetic changes and pathways that can improve diagnosis and treatment.  

Population Genetics

To understand common genetic variants associated with hEDS, we are working on genome wide association studies (GWAS) using genetic samples from our hEDS registry. Through GWAS, we aim to identify specific genetic markers that play a role in hEDS, and specific variants that play a role in different EDS phenotypes and comorbidities. Similar to our family genetic studies, this data with help to improve our understanding of the disease, with the goal of developing better diagnostic tools and therapies. 

Mast Cells

Frequently observed with EDS is Mast Cell Activation Syndrome (MCAS), characterized by heightened mast cell activity and degranulation, resulting in a range of allergic symptoms. We are working to understand the intricate connection between connective tissue dysfunction and mast cell activation. Our aim is to enhance the management of both MCAS and EDS, offering a more comprehensive approach to improving the lives of affected by these conditions.  

Connective Tissue Biology

hEDS patients are known to have weak connective tissue, leading to joint hypermobility and instability. To understand the altered connective tissue present in hEDS patients, we are using a variety of biological models including in vitro and in vivo systems. We are analyzing the expression of key proteins involved in connective tissue formation and maintenance, such as collagen, elastin, and enzymes involved in post-translational modifications to look for differences in protein expression patterns. Insights from these studies will guide further research into the biological mechanisms behind hEDS.  

Biomarker Discovery

There is a clinical need for the development of diagnostic tools for hEDS and HSD. Using plasma and serum samples from hEDS and HSD patients, we are using proteomic approaches to identify potential biomarkers that can be used to develop an accurate and sensitive diagnostic test. This would improve diagnostic capabilities and allow for earlier and accurate diagnosis in people with hEDS and HSD.

Dermatological Pathologies

hEDS patients are known to have weak connective tissue, leading to joint hypermobility and instability. To understand the altered connective tissue present in hEDS patients, we are using a variety of biological models including in vitro and in vivo systems. We are analyzing the expression of key proteins involved in connective tissue formation and maintenance, such as collagen, elastin, and enzymes involved in post-translational modifications to look for differences in protein expression patterns. Insights from these studies will guide further research into the biological mechanisms behind hEDS.  

Rare Types of EDS

While hEDS is not considered a rare disease, the other subtypes of EDS are exceeding rare, with some subtypes only reported in a few families worldwide. Research on these conditions is lacking, even in cases where the genetic cause is known. We are interested in studying the underlying biology of rare subtypes of EDS, and have developed a mouse model repository to do so.  

Gastrointestinal Manifestations

The scientific literature on gastrointestinal manifestations has previously established symptoms associated with hEDS such as abdominal pain, nausea, and constipation, with little literature assessing functional GI disorders in hEDS. Therefore, we are conducting a medical chart review of patients with hEDS, to investigate the type and prevalence of gastrointestinal pathologies, diagnostic testing approaches, interventions and treatment approaches, and the presence of additional comorbidities.

Vagus Nerve Stimulation

The vagus nerve is one of the longest nerves in the body, extending from the brainstem down to the abdomen, and it plays a key role in regulating various involuntary bodily functions. In collaboration with Dr. Steven Kautz, Dr. Bashar Badran, and Dr. Heather Boger, we are currently conducting a clinical trial centered on Vagus Nerve Stimulation (VNS). Our study will use both mouse models of hEDS and patient participants to investigate the efficacy of VNS as a treatment for symptoms and comorbidities associated with EDS.

Musculoskeletal Biorepository

In collaboration with Dr. Josef Eichinger and Dr. Daniel Scott, we are creating a biorepository of 10,000 patient samples from synovial fluid joints for current and future research. The study aims to generate a bank of these synovial fluid tissue samples, detect biomarkers of early disease stages of various conditions (including orthopedic manifestations of EDS), and eventually develop therapeutics to reduce the need for orthopedic surgical interventions.

Tethered Cord Syndrome

Tethered cord syndrome is a comorbid condition observed in some patients with EDS. The symptoms can include lower back pain, balance problems, lower extremity weakness, sensory loss, and bowel and/or bladder incontinence, which all overlap with other neurological disorders causing diagnostic challenges. In collaboration with Dr. Sunil Patel, we will be studying filum terminale tissue collected during surgical interventions, with the goal of understanding the biological mechanism of tethered cord syndrome. We will also be studying blood and cerebrospinal fluid samples to identify biomarkers of early disease.