Early-Stage Investigator Spotlight

Steven Sloan, MD, PhD, is an assistant professor in the Department of Human Genetics at the Emory University School of Medicine, as well as a member of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). His research focuses on glial development and the role these cells play in neurodevelopmental and neuropsychiatric diseases, including congenital disorders of glycosylation (CDG). Here, he shares his start in rare disease research, exciting discoveries, and future goals.

Zarazuela Zolkipli-Cunningham, MBChB, MRCP, is an attending physician in the Mitochondrial Medicine Frontier Program (MMFP) at Children's Hospital of Philadelphia (CHOP) and a member of the North American Mitochondrial Disease Consortium (NAMDC). Her research focuses on conducting natural history studies with an emphasis on longitudinal objective measures for mitochondrial disease. Here, she shares her start in rare disease research, exciting discoveries, and future goals. 

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. 

Danielle Arnold, MD, is an attending transplant physician at the National Institutes of Health. She is also a member of the Primary Immune Deficiency Treatment Consortium (PIDTC). Her research focuses on improving transplant outcomes for patients with primary immune deficiencies and immune regulatory disorders. Here, she shares her start in rare disease research, exciting discoveries, and future goals.

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.

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.