Consortium Spotlight

The North American Mitochondrial Disease Consortium (NAMDC) was established to create a network of clinicians and clinical investigators in North America who follow sizeable numbers of patients with mitochondrial diseases and are involved or interested in mitochondrial research. Here, Principal Investigator (PI) Michio Hirano, MD, shares the history of the consortium, current research, and future plans.

The Developmental Synaptopathies Consortium (DSC) is a network of experts studying three rare genetic syndromes—tuberous sclerosis complex (TSC), Phelan-McDermid syndrome (PMS), and PTEN hamartoma tumor syndrome (PHTS)—that often cause autism spectrum disorder and intellectual disability. Here, program manager Rajna Filip-Dhima, MS, and principal investigator Mustafa Sahin, MD, PhD, share the history of the consortium, current research, and future plans. 

The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) is a network of experts working together to better understand rare and genetic conditions leading to impairments in lung defenses and suppurative respiratory disorders, including primary ciliary dyskinesia, cystic fibrosis, primary immunodeficiencies, and idiopathic bronchiectasis. Here, principal investigators Stephanie Davis, MD, and Thomas Ferkol, MD, share the history of the consortium, current research, and future plans. 

The Urea Cycle Disorders Consortium (UCDC), now in its fourth cycle of funding, is one of the original Rare Diseases Clinical Research Network (RDCRN) consortia. When originally established, the UCDC had five sites; it is now an international network of 16 academic centers (13 in the US, one in Canada, and two in Europe) with 38 faculty investigators and 25 research staff members providing state-of-the-art care and conducting innovative clinical research in urea cycle disorders (UCD).

The Congenital and Perinatal Infections Consortium (CPIC) brings together a coalition of 29 academic medical centers that have a longstanding history of research in pediatric infectious diseases with community and industry stakeholders. It is one of five new consortia to join the Rare Diseases Clinical Research Network in the latest funding cycle. Here, CPIC leaders share insights on the group’s goals, research projects, and next steps.

The Vasculitis Clinical Research Consortium (VCRC) is an international, multi-center, clinical research infrastructure for the study of vasculitis.