• Search
  • Lost Password?

Think ‘Zebra’

Thousands of rare diseases affect 300 million people globally, but a potential breakthrough in one sheds light on the systemic barriers to research and diagnosis. Ehlers-Danlos Syndrome (EDS) has thirteen subtypes, and, to date, all but one have at least one identified genetic marker. In 2021, researchers at the Medical University of South Carolina announced they may have found the first genetic marker for Hypermobile Ehlers-Danlos Syndrome (hEDS). This subtype is the most common and is commonly believed to be less severe than other types of EDS, which is not the case. Further, recent research shows hEDS may not be rare at all, a misconception that is potentially a consequence of systemic underdiagnosis that impacts both patient lives and the flow of research funding. Through stories of scientific research, healthcare provers, and patient experiences, this thesis illustrates the interplay between: difficulty of rare disease diagnosis, systemic barriers that prevent diagnosis, and the effects these have on institutional research into rare disease.

Shel Evergreen
Written by
Shel Evergreen

Shel Evergreen is a multimedia pro who has been called a “Swiss Army knife” for her versatile skillset in writing, video production, graphic design, and more.

Prior to coming to MIT, Shel helped launch a community-led climate action plan for the City of Boulder as well as the city’s first-ever Racial Equity Plan. She also ran communications for the Colorado State University Energy Institute, and documented XPower, Inc.’s renewable energy microgrids alongside her media team in East Africa.

Her personal experience growing up in rural Oklahoma and her past social work and public service helps her shine a light on connections between scientific advances and societal challenges. While at MIT, Shel aims to tell meaningful stories that contribute to a more equitable world.

Shel Evergreen Written by Shel Evergreen