Wellcome Ph.D. Programme in Cellular and Molecular Physiology. (360G-Wellcome-109095_Z_15_A)

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Genome wide association studies demonstrate that amyotrophic lateral sclerosis (ALS) has a large genetic contribution and a gender bias in risk. However, these studies also indicate that we still have much to learn about the genetic causes of ALS. To explain this missing component we hypothesise that endogenous non-LTR retrotransposons, which are known to be active in the human genome, result in novel insertions that can act as germline predisposition variants or new de novo mutations. These non-LTR retrotransposons include LINE-1, Alu- and SINE-VNTR-Alu (SVA) elements. We are currently identifying novel somatic insertions in DNA from both motor neurons and lymphocytes of individuals who have died of ALS using a technique termed retrotransposon capture sequencing. This data is now available to validate, data-mine and address the functional consequences of such insertions. Particular focus will be given to insertions on the X chromosome which might in part explain the gender bias. The proposal is therefore to determine if: a) Increased or novel retrotransposition events have occurred in the motor neurons of individuals with ALS which would correlate with neurodegeneration of these neurons. b) Specific germline insertions are a predisposing factor for ALS.

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Grant Details

Amount Awarded 0
Applicant Surname Illera López
Approval Committee Internal Decision Panel
Award Date 2017-01-31T00:00:00+00:00
Financial Year 2016/17
Grant Programme: Title PhD Studentship (Basic)
Internal ID 109095/Z/15/A
Lead Applicant Miss Ana Illera López
Partnership Value 0
Planned Dates: End Date 2019-09-30T00:00:00+00:00
Planned Dates: Start Date 2016-10-01T00:00:00+00:00
Recipient Org: Country United Kingdom
Region North West