Early Stage Investigator Spotlight: BreAnna Kinghorn Improves Outcomes for Children with Primary Ciliary Dyskinesia Dakota Campbell Tue, 03/22/2022 - 11:59
Headshot of BreAnna Kinghorn, MD, MS

BreAnna Kinghorn, MD, MS, is an assistant professor in pediatric pulmonary and sleep medicine at Seattle Children's Hospital and the University of Washington School of Medicine. She is also a member of the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). Dr. Kinghorn’s research focuses on improving outcomes for children with primary ciliary dyskinesia (PCD). Here, she shares her start in rare disease research, exciting discoveries, and future goals. 

Early Stage Investigator Spotlight: Girish Hiremath Explores the Epidemiology of Eosinophilic Gastrointestinal Diseases Dakota Campbell Fri, 03/04/2022 - 10:33
Headshot of Girish Hiremath, MD, MPH

Girish Hiremath, MD, MPH, is a pediatric gastroenterologist leading the pediatric Eosinophilic Gastrointestinal Disorders clinic at Vanderbilt University. He is also a member of the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). Dr. Hiremath’s research focuses on the epidemiology, pathogenesis, diagnosis, and management of eosinophilic gastrointestinal diseases (EGIDs). Here, he shares his start in rare disease research, exciting discoveries, and future goals. 

Early Investigator Spotlight: UCDC Trainees Drive Discoveries in Urea Cycle Disorders Dakota Campbell Thu, 12/09/2021 - 11:28
Headshots of Ayelet Erez, MD, PhD; Eric Crombez, MD; Lindsay Burrage, MD, PhD; Sandesh Nagamani, MD; Andrea Gropman, MD
From left to right: Ayelet Erez, MD, PhD; Eric Crombez, MD; Lindsay Burrage, MD, PhD; Sandesh Nagamani, MD; Andrea Gropman, MD

The Urea Cycle Disorders Consortium (UCDC) is an original member of the Rare Diseases Clinical Research Network (RCDRN) family, having been part of the Network since its inception in 2003. The program has spawned a long list of independent academicians, five of whom are highlighted in this article.

Early-Stage Investigator Spotlight: Chaya Nautiyal Murali Gets Creative with Osteogenesis Imperfecta Research Dakota Campbell Tue, 11/09/2021 - 13:32
Headshot of Chaya Nautiyal Murali, MD

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.