British Autozygosity Population Gene Function Study. (360G-Wellcome-102627_B_13_Z)

£7,214

Parental relatedness (e.g. cousin marriage) is common in certain UK ethnic groups including the health disadvantaged British-Bangladeshi and British-Pakistani communities. Recent studies indicate that outbred human genomes contain ~100 genuine complete loss of function (LoF) variants. Consanguineous (parental and/or historic) individuals carry genomic regions identical-by-descent (autozygous), thus rare frequency variants occur as homozygous genotypes. Our knowledge of human gene function an d genome annotation remains incomplete. Characterisation and deep-phenotyping of healthy adult individuals enriched for naturally occurring homozygous knockout alleles will provide invaluable knowledge of human biology. We propose a large-scale community based exome sequencing programme of consanguineous individuals (25,000) of whom a subset (3,000) with genotypes of interest will be later recalled. We will focus on East London populations whose recruitment and recall will be coordinated arou nd our Whitechapel site. We will recall sequenced individuals possessing autozygous variants of biomedical importance (predicted complete LoF, coding, and regulatory) for deep-phenotyping and experimental medicine studies. Our proposal complements existing rare disease sequencing programmes, national sequencing studies (UK10K, DDD), and other UK BioResources (Cambridge and NIHR BioResources, TwinsUK and UK BioBank). We will substantially engage East London communities and increase our existing p ublic engagement activities around genetics and genomics.

Where is this data from?

This data was originally published by The Wellcome Trust. If you see something about your organisation or the funding it has received on this page that doesn't look right you can submit a grantee amendment request. You can hover over codes from standard codelists to see the user-friendly name provided by 360Giving.

Grant Details

Amount Awarded 7214
Applicant Surname van Heel
Approval Committee Strategic Awards Committee
Award Date 2013-10-10T00:00:00+00:00
Financial Year 2013/14
Grant Programme: Title Strategic Award - Science
Internal ID 102627/B/13/Z
Lead Applicant Prof David van Heel
Partnership Value 7214
Planned Dates: End Date 2018-05-31T00:00:00+00:00
Planned Dates: Start Date 2014-06-01T00:00:00+00:00
Recipient Org: Country United Kingdom
Region Greater London