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 Brittle Bone Disorders Consortium (BBDC) brings together physicians, researchers, and educators to learn more about osteogenesis imperfecta (OI), a genetic disorder that mainly affects the development of the bones. The goal is to develop new and better treatments for patients with OI. Here, principal investigator Brendan Lee, MD, PhD, and Vernon Sutton, MD, share the history of the consortium, current research, and future plans.
Since its initial funding in 2009, the Brain Vascular Malformation Consortium (BVMC) has conducted clinical research and improved the care of patients with brain vascular malformations, conditions in which blood vessels of the brain are affected. Here, Helen Kim, PhD, principal investigator of the BVMC, shares the history of the consortium, current research, and future plans.
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.