Proteomics and iPSC generation in NF1 autism
Research type
Research Study
Full title
PILOT PROTEOMIC STUDY & PLURIPOTENT STEM CELL GENERATION IN NEUROFIBROMATOSIS TYPE 1 AUTISM
IRAS ID
246779
Contact name
Shruti Garg
Contact email
Sponsor organisation
University of Manchester
Duration of Study in the UK
3 years, 6 months, 28 days
Research summary
Neurofibromatosis type 1(NF1) is a common genetic disorder affecting 1 in 2500 people. About 25% of children with NF1 are also affected by Autism Spectrum Disorder (ASD). We don't understand why some children are affected by autism whilst other are not. The aims of this study are: (1) whether we can develop a blood test that can be used to identify autism (2) to develop stem cells from blood taken from children with NF1 autism. These stem cells can be used to understand more about brain development in children with NF1 and autism.
REC name
East of England - Cambridgeshire and Hertfordshire Research Ethics Committee
REC reference
18/EE/0250
Date of REC Opinion
24 Jul 2018
REC opinion
Favourable Opinion