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: Danielle Arnold Explores Transplant Strategies for Primary Immune Deficiencies Dakota Campbell Wed, 01/19/2022 - 10:10
Headshot of Danielle Arnold, MD

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.

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.