The Genetic Disorders Mucociliary Clearance Consortium
228 بار بازدید -
2 سال پیش
-
Stephanie Davis, MD, and Thomas
Stephanie Davis, MD, and Thomas Ferkol, MD, Professors of Medicine at University of North Carolina at Chapel Hill, discuss the value of being part of the Rare Diseases Clinical Research Network (RDCRN). Drs Davis and Ferkol are co-leaders of the Genetic Disorders Mucociliary Clearance Consortium (GDMCC), a consortium in the RDCRN.
The GDMCC is focus on a number of rare genetic ciliary disorders, but its primary focus has been on primary ciliary dyskinesia (PCD).
PCD is a rare genetic disorder that results in abnormalities of the cilia. The ciliary dysfunction leads to impaired mucociliary clearance, which results in a myriad of symptoms, most notably chronic bronchitis, and wheezing. Repeated or persistent severe upper respiratory tract infections, typically chronic pansinusitis or suppurative otitis media, and infertility (in males), are also common.
PCD is usually diagnosed via a genetic panel (more than 50 genes have been linked to this condition) and an examination of the ciliary ultrastructure, but not all babies with PCD are picked up via those diagnostic tools.
At present, there is no treatment available to improve the dysfunctional cilia. Current treatment is limited to controlling the recurring infections and removing excess mucus buildup.
As noted by Dr. Davis and Ferkol, RDCRN has provided PCD researchers with a framework to collaborate with other researchers that have dramatically advanced our understanding of this disease. As Dr Ferkol noted, what he wrote 10 years ago about this rare disease is no longer accurate thanks to the advances that have been made in this field, largely as a result of the RDCRN consortium. The consortium has also provided an opportunity to train the next generation of PCD researchers that will hopefully develop targeted therapies that can treat this rare disease more efficiently and effectively.
To learn more about DGMCC visit www1.rarediseasesnetwork.org/cms/gdmcc/
To learn more about RDCRN, visit ncats.nih.gov/rdcrn
CheckRare is collaborating with RDCRN to educate health care professionals one ways they can be part of this network to advance clinical research. Visit our collaboration page at checkrare.com/rare-diseases-clinical-research-network/
The GDMCC is focus on a number of rare genetic ciliary disorders, but its primary focus has been on primary ciliary dyskinesia (PCD).
PCD is a rare genetic disorder that results in abnormalities of the cilia. The ciliary dysfunction leads to impaired mucociliary clearance, which results in a myriad of symptoms, most notably chronic bronchitis, and wheezing. Repeated or persistent severe upper respiratory tract infections, typically chronic pansinusitis or suppurative otitis media, and infertility (in males), are also common.
PCD is usually diagnosed via a genetic panel (more than 50 genes have been linked to this condition) and an examination of the ciliary ultrastructure, but not all babies with PCD are picked up via those diagnostic tools.
At present, there is no treatment available to improve the dysfunctional cilia. Current treatment is limited to controlling the recurring infections and removing excess mucus buildup.
As noted by Dr. Davis and Ferkol, RDCRN has provided PCD researchers with a framework to collaborate with other researchers that have dramatically advanced our understanding of this disease. As Dr Ferkol noted, what he wrote 10 years ago about this rare disease is no longer accurate thanks to the advances that have been made in this field, largely as a result of the RDCRN consortium. The consortium has also provided an opportunity to train the next generation of PCD researchers that will hopefully develop targeted therapies that can treat this rare disease more efficiently and effectively.
To learn more about DGMCC visit www1.rarediseasesnetwork.org/cms/gdmcc/
To learn more about RDCRN, visit ncats.nih.gov/rdcrn
CheckRare is collaborating with RDCRN to educate health care professionals one ways they can be part of this network to advance clinical research. Visit our collaboration page at checkrare.com/rare-diseases-clinical-research-network/
2 سال پیش
در تاریخ 1401/08/12 منتشر شده
است.
228
بـار بازدید شده