The Institute for Women’s Health and Genetics

The Institute for Women’s Health and Genetics at UChicago Medicine is dedicated to the evaluation and management of individuals with complex heritable conditions, with a focus on connective tissue disorders, multisystem syndromes and cases involving prolonged diagnostic uncertainty. Our team integrates advanced genomic diagnostics, subspecialty coordination and longitudinal care models to address the unique clinical challenges presented by this patient population.

 

A Focus on Hypermobility Spectrum Disorders (HSD)

A central focus of our program is the assessment and multidisciplinary management of Hypermobility Spectrum Disorders (HSD), particularly the hypermobile Ehlers-Danlos syndrome (hEDS). While hEDS remains a clinical diagnosis due to the absence of a known monogenic cause, our approach recognizes the broad phenotypic variability and significant morbidity these patients face. Individuals with hEDS frequently present with generalized joint hypermobility, chronic musculoskeletal pain, orthostatic intolerance, gastrointestinal dysmotility, pelvic organ prolapse and a range of autonomic and mast cell-related symptoms.

Management is interdisciplinary, involving medical genetics, cardiology, neurology, urogynecology, gastroenterology, physical medicine and rehabilitation (PM&R) and pain management. Physical therapy protocols are individualized, with emphasis on proprioception, joint stabilization and autonomic regulation. Our model emphasizes function, quality of life and long-term risk reduction.

Importantly, our institute also contributes to ongoing research into the underlying molecular pathophysiology of hEDS, with the aim of supporting future biomarker discovery and therapeutic development.

 

Caring for the Undiagnosed: The Search for Answers

Equally important is our work with individuals who do not yet have a name for what they’re experiencing. Many of our patients arrive after seeing multiple specialists, undergoing years of testing and still feeling no closer to a diagnosis. These patients often carry complex constellations of symptoms like, for example, chronic fatigue, neurological issues, fainting spells, unexplained pain, or overlapping autoimmune features, which don’t fit neatly into one box.

We begin with a thorough review of medical history, detailed clinical assessments and, where appropriate, advanced genetic testing and whole-exome sequencing. We recognize the emotional burden that comes with being undiagnosed, feeling unheard, invisible or trapped in medical uncertainty.

We provide a medical home for these individuals, where long-term follow-up, investigative thinking and interdisciplinary collaboration are central to our care model. Even when a single, unifying diagnosis remains elusive, we help patients find clarity, validation and symptom-focused care that can change their daily experience.

As an academic medical center, we have access to research-driven insights, novel diagnostic tools and a vast network of experts across genetics, immunology, neurology, gastroenterology and beyond. But what truly defines us is our philosophy: every symptom deserves attention and every patient deserves belief.

Whether you’ve been diagnosed with a disorder or are still searching for answers, our team at the Institute for Women’s Health and Genetics is ready to meet you where you are and help you move forward.