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 Dystonia Coalition is an international network of researchers and patient advocacy groups working to advance the pace of research in the dystonias, find better treatments, and ultimately a cure. Here, program manager Gamze Kilic Berkmen, PhD, and principal investigator Hyder Jinnah, MD, PhD, share 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 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.