COVID Patient Survey 2021 Follow-Up image
December 06, 2021

The Rare Diseases Clinical Research Network (RDCRN) invites those who participated in the 2020 survey “Impacts of COVID-19 on the Rare Disease Community” to complete an online follow-up survey about the ways COVID-19 has impacted people with rare diseases and their families since the beginning of the pandemic.

Urea Cycle Disorders Consortium logo
December 03, 2021

The Urea Cycle Disorders Consortium (UCDC), now in its fourth cycle of funding, is one of the original Rare Diseases Clinical Research Network (RDCRN) consortia. When originally established, the UCDC had five sites; it is now an international network of 16 academic centers (13 in the US, one in Canada, and two in Europe) with 38 faculty investigators and 25 research staff members providing state-of-the-art care and conducting innovative clinical research in urea cycle disorders (UCD).

Research Roundup. #RareDiseasesSpotlight. Rare Diseases Clinical Research Network
December 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.

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.