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: 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.