Journal article
Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force
Genes & development, Vol.39(9-10), pp.541-554
05/01/2025
DOI: 10.1101/gad.352629.125
PMCID: PMC12047663
PMID: 40127956
Abstract
Individuals with neurofibromatosis type 1 (NF1) are prone to the evolution of neurodevelopmental symptomatology including motor delays, learning disabilities, autism, and attention deficits. Caused by heterozygous germline mutations in the
gene, this monogenic condition offers unique opportunities to study the genetic etiologies for neurodevelopmental disorders and the mechanisms that underlie their formation. Although numerous small animal models have been generated to elucidate the causes of these alterations, there is little consensus on how to align preclinical observations with clinical outcomes, harmonize findings across species, and consolidate these insights to chart a cohesive path forward. Capitalizing on expertise from clinicians; human, animal, and cellular model research scientists; and bioinformatics researchers, the first Cognition and Behavior in NF1 (CABIN) meeting was convened at the Banbury Center of Cold Spring Harbor Laboratory in October 2024. This Perspective summarizes the state of our understanding and a proposed plan for future investigation and exploration to improve the quality of life of those with NF1.
Details
- Title: Subtitle
- Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force
- Creators
- David H Gutmann - Washington University in St. LouisCorina Anastasaki - Washington University in St. LouisAditi Gupta - Washington University in St. LouisYang Hou - Florida State UniversityStephanie M Morris - Kennedy Krieger InstituteJonathan M Payne - Murdoch Children's Research InstituteJacob Raber - Oregon National Primate Research CenterSeth M Tomchik - University of IowaLinda Van Aelst - Cold Spring Harbor LaboratoryJames A Walker - Massachusetts General HospitalKaleb H Yohay - NYU Langone HealthCABIN Task Force
- Resource Type
- Journal article
- Publication Details
- Genes & development, Vol.39(9-10), pp.541-554
- DOI
- 10.1101/gad.352629.125
- PMID
- 40127956
- PMCID
- PMC12047663
- NLM abbreviation
- Genes Dev
- ISSN
- 0890-9369
- eISSN
- 1549-5477
- Publisher
- COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
- Grant note
- Gilbert Family FoundationDepartment of DefenseNational Institutes of Neurological Disorders and StrokePenny's Flight Foundation (Kate)
We thank program officers from the Gilbert Family Foundation (Kalyan Vinnakota, PhD), Department of Defense (Theresa Williams, PhD), and National Institutes of Neurological Disorders and Stroke (Jill Morris, PhD) for their participation. We also appreciate the efforts of Dr. Mekka Garcia, who provided scribe services for the meeting, as well as the patient advocates and parents who attended the meeting and provided insightful feedback. We also thank Penny's Flight Foundation (Kate and Chad Doerge) and The Banbury Center (Rebecca Leshan, PhD) for their support of this initial meeting.
- Language
- English
- Electronic publication date
- 03/24/2025
- Date published
- 05/01/2025
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neuroscience and Pharmacology
- Record Identifier
- 9984802406702771
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