ITEM METADATA RECORD
Title: The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research
Authors: Acosta, Maria T ×
Bearden, Carrie E
Castellanos, Xavier F
Cutting, Laurie
Elgersma, Ype
Gioia, Gerard
Gutmann, David H
Lee, Yong-Seok
Legius E, Eric
Muenke, Maximillian
North, Kathryn
Parada, Luis F
Ratner, Nancy
Hunter-Schaedle, Kim
Silva, Alcino J #
Issue Date: Sep-2012
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:158A issue:9 pages:2225-2232
Article number: 10.1002/ajmg.a.35535
Abstract: Learning disabilities and other cognitive disorders represent one of the most important unmet medical needs and a significant source of lifelong disability. To accelerate progress in this area, an international consortium of researchers and clinicians, the Learning Disabilities Network (LeaDNet), was established in 2006. Initially, LeaDNet focused on neurofibromatosis type 1 (NF1), a common single gene disorder with a frequency of 1:3,000. Although NF1 is best recognized as an inherited tumor predisposition syndrome, learning, cognitive, and neurobehavioral deficits account for significant morbidity in this condition and can have a profound impact on the quality of life of affected individuals. Recently, there have been groundbreaking advances in our understanding of the molecular, cellular, and neural systems underpinnings of NF1-associated learning deficits in animal models, which precipitated clinical trials using a molecularly targeted treatment for these deficits. However, much remains to be learned about the spectrum of cognitive, neurological, and psychiatric phenotypes associated with the NF1 clinical syndrome. In addition, there is a pressing need to accelerate the identification of specific clinical targets and treatments for these phenotypes. The successes with NF1 have allowed LeaDNet investigators to broaden their initial focus to other genetic disorders characterized by learning disabilities and cognitive deficits including other RASopathies (caused by changes in the Ras signaling pathway). The ultimate mission of LeaDNet is to leverage an international translational consortium of clinicians and neuroscientists to integrate bench-to-bedside knowledge across a broad range of cognitive genetic disorders, with the goal of accelerating the development of rational and biologically based treatments. © 2012 Wiley Periodicals, Inc.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Acosta.pdfpublisher's version pdf Published 118KbAdobe PDFView/Open

 


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science