To discover further genes that determine human brain size. (360G-Wellcome-082867_Z_07_Z)

£460,856

We have ascertained and phenotyped families with ten different autosomal recessive disorders in which primary microcephaly (a significantly reduced brain size at birth) is the key feature. We have sufficient affected family members to find each disease gene. We will use the well-tried and reliable method of looking for human mutations leading to reduction of brain size: genetic linkage; search for ancestral shared haplotypes; bio-informatics analysis of transcripts in the linked region; seque ncing candidate transcripts; assessment of any mutations found by bio-informatics, presence or absence in control populations and functional analysis. A disease gene will be identified by finding pathogenic mutations in the linked families. Having found each gene, we will perform, 1. Detailed human embryonic and foetal brain expression studies and pooled cDNA to determine adult tissue expression. 2. Assess cell localisation, if necessarily throughout the cell cycle and in different huma n cell types. 3. If possible, within the auspices of the project: derive a plausible hypothesis of gene/protein function; and show how mutations alter gene or protein function by whatever necessary methodology. The successful conclusion of this research will be a peer-reviewed article on each disease gene; we would aim for at least six.

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Grant Details

Amount Awarded 460856
Applicant Surname Woods
Approval Committee Molecular and Cellular Neuroscience Funding Committee
Award Date 2007-06-28T00:00:00+00:00
Financial Year 2006/07
Grant Programme: Title Project Grant
Internal ID 082867/Z/07/Z
Lead Applicant Prof Christopher Woods
Partnership Value 460856
Planned Dates: End Date 2011-10-31T00:00:00+00:00
Planned Dates: Start Date 2008-01-01T00:00:00+00:00
Recipient Org: Country United Kingdom
Region East of England