Early Stage Investigator Spotlight: Steven Sloan Develops Brain Organoids to Study Congenital Disorders of Glycosylation Dakota Campbell Tue, 06/14/2022 - 09:46
Headshot of Steven Sloan, MD, PhD

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.

Early Stage Investigator Spotlight: Zarazuela Zolkipli-Cunningham Designs Novel Outcome Measures for Mitochondrial Disease Dakota Campbell Thu, 05/19/2022 - 15:25
Headshot of Zarazuela Zolkipli-Cunningham, MBChB, MRCP

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. 

Early Stage Investigator Spotlight: Siddharth Srivastava Investigates Genetic Causes of Neurodevelopmental Disorders Dakota Campbell Thu, 04/21/2022 - 10:53
Headshot of Siddharth Srivastava, MD

Siddharth Srivastava, MD, is a pediatric neurologist at Boston Children's Hospital specializing in neurogenetics. He is also a member of the Developmental Synaptopathies Consortium (DSC). Dr. Srivastava’s research focuses on neurodevelopmental phenotyping and biomarker discovery  in Phelan-McDermid syndrome (PMS), tuberous sclerosis complex (TSC), and PTEN hamartoma tumor syndrome (PHTS). Here, he shares his start in rare disease research, exciting discoveries, and future goals.

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 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.