Mustafa Sahin, MD, PhD, with a patient
November 22, 2021

We are launching a new article series that offers a window into rare diseases research with this issue of the Spotlight newsletter. Over the coming year, we will highlight the progress, people, and plans of our network and its 20 consortia.

The Fynan family posing on a beach
November 16, 2021

Michelle Fynan, PhD, LMHC, is a mother of two daughters, age seven and four. She and her daughters are diagnosed with osteogenesis imperfecta (OI) type I, the mildest form of OI, which is characterized by bone fractures that often result from minor trauma. Here, Michelle shares her journey with OI, from adolescent struggles to finding her purpose as an OI activist and researcher.

Headshot of Chaya Nautiyal Murali, MD
November 09, 2021

Chaya Nautiyal Murali, MD, is a pediatric geneticist at Baylor College of Medicine and a member of the Brittle Bone Disorders Consortium (BBDC). She is also an accomplished essayist, using her creative writing skills to highlight themes of identity, inheritance, and family through the lenses of immigration and genetics. Here, she shares her start in rare disease research, exciting discoveries, and future goals.

CEGIR studies rare diseases called Eosinophilic Gastrointestinal Disorders (EGIDs). CEGIR: Consortium of Eosinophilic Gastrointestinal Disease Researchers.
November 04, 2021

The Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) is dedicated to improving the lives of individuals with eosinophilic gastrointestinal disorders (EGIDs). Learn more about CEGIR in this overview video. 

Members of the Brittle Bone Disorders Consortium
November 03, 2021

The Brittle Bone Disorders Consortium (BBDC) brings together physicians, researchers, and educators to learn more about osteogenesis imperfecta (OI), a genetic disorder that mainly affects the development of the bones. The goal is to develop new and better treatments for patients with OI. Here, principal investigator Brendan Lee, MD, PhD, and Vernon Sutton, MD, share the history of the consortium, current research, and future plans.

Research Roundup. #RareDiseasesSpotlight. Rare Diseases Clinical Research Network
November 01, 2021

Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research below.

Headshot of Connie Lee, PsyD
October 26, 2021

Connie Lee, PsyD, is president and CEO of the Angioma Alliance and a member of the Brain Vascular Malformation Consortium (BVMC). She is also a licensed clinical psychologist and the mother of a daughter with multiple cavernous angiomas. Here, she shares her start in patient advocacy, current work, and future goals.