Overview
UCL Genetics Institute is seeking applications from highly motivated candidates for a 3 year MRC funded Industrial case PhD Studentship commencing in October 2010. MRC Industrial CASE awards provide PhD students with a first rate, challenging training experience within the context of a mutually beneficial collaboration between academic and industry research programme leaders. During the 3 year studentship, there will be at least one 3 month placement with the Industrial partner Gen-Probe Life Sciences (http://www.gen-probe.com).
Eligibility requirements
Applicants should hold or realistically expect to obtain at least an Upper Second Class Honours Degree in a relevant subject. Applicants must be UK/EU nationals and must have been resident in the UK for the three years immediately prior to starting a PhD to be eligible. For further details about the MRC’s eligibility guidelines please see http://www.mrc.ac.uk/Fundingopportunities/Applicanthandbook/Studentships/Eligibility/index.htm.
The position is funded for university fees and an annual stipend of approximately £18,486.
Project details
Familial hypercholesterolaemia (FH) is an autosomal dominant disorder associated with elevated levels of plasma LDL particles and increased risk of coronary heart disease (CHD), The 2008 UK NICE guidelines recommend DNA testing for all patients with a clinical diagnosis of FH, and there are expected to be over 120,000 FH patients in ~25,000 different families in the UK. Mutations in the LDL-receptor gene (LDLR) account for the majority of identified mutations1 with > 200 different mutations found in UK patients. In ~5% of FH patients the mutation is in the APOB gene which encodes the ligand for the LDL receptor, while gain-of-function mutations in the PCSK9 gene cause FH in about 2% of UK patients. Currently no molecular cause can be found in up to 30% of Definite FH (DFH) patients, which is clinically unsatisfactory. This proposal addresses several possible reasons for this. Also, there is only limited data currently available on the spectrum of mutations causing FH in non-white ethnic groups.
The specific aims for the three year PhD are:
1.To use Roche 454 ‘deep sequencing’ to scan the entire LDLR and PCSK9 genes in a)100 patients from the Indian subcontinent (and other ethnic groups) and b) in 100 DFH patients with no causative mutation identified.
2.To carry out “deep sequencing” in 25 DFH patients with no causative mutation identified, in 4-6 novel genes identified in GWAS studies as being associated with effects on LDL-C.
3.To develop in-vitro and in-vivo assays for sequences predicted to affect splicing in the LDLR.
Achievement of these aims will significantly improve the diagnostic detection rate of FH in UK patients of all ethnic groups, allowing efficient DNA-cascade testing in their families and thus treatment of and prevention of early CHD.
Please direct applications in the following format to:
Professor Steve Humphries
MRC Case Studentship
Third Floor, Rayne Institute
5 University Street
London C1E 6JJ
Electronic applications should be sent to kate.henderson@ucl.ac.uk
• A CV, including full details of all University course grades to date.
• Contact details for two academic or professional referees.
• A personal statement (750 words maximum) outlining your suitability for the project, what you hope to achieve from the PhD and your research experience to-date.
Any enquiries relating to the project and/or suitability should be directed Professor Steve Humphries (s.humphries@ucl.ac.uk). Please note that Professor Humphries should be contacted for enquiries ONLY and all applications should be directed to his assistant Kate.Henderson@ucl.ac.uk
Application deadline: Friday 16th April 2010
Please kindly mention Scholarization.blogspot.com when applying for this scholarship
UCL Genetics Institute is seeking applications from highly motivated candidates for a 3 year MRC funded Industrial case PhD Studentship commencing in October 2010. MRC Industrial CASE awards provide PhD students with a first rate, challenging training experience within the context of a mutually beneficial collaboration between academic and industry research programme leaders. During the 3 year studentship, there will be at least one 3 month placement with the Industrial partner Gen-Probe Life Sciences (http://www.gen-probe.com).
Eligibility requirements
Applicants should hold or realistically expect to obtain at least an Upper Second Class Honours Degree in a relevant subject. Applicants must be UK/EU nationals and must have been resident in the UK for the three years immediately prior to starting a PhD to be eligible. For further details about the MRC’s eligibility guidelines please see http://www.mrc.ac.uk/Fundingopportunities/Applicanthandbook/Studentships/Eligibility/index.htm.
The position is funded for university fees and an annual stipend of approximately £18,486.
Project details
Familial hypercholesterolaemia (FH) is an autosomal dominant disorder associated with elevated levels of plasma LDL particles and increased risk of coronary heart disease (CHD), The 2008 UK NICE guidelines recommend DNA testing for all patients with a clinical diagnosis of FH, and there are expected to be over 120,000 FH patients in ~25,000 different families in the UK. Mutations in the LDL-receptor gene (LDLR) account for the majority of identified mutations1 with > 200 different mutations found in UK patients. In ~5% of FH patients the mutation is in the APOB gene which encodes the ligand for the LDL receptor, while gain-of-function mutations in the PCSK9 gene cause FH in about 2% of UK patients. Currently no molecular cause can be found in up to 30% of Definite FH (DFH) patients, which is clinically unsatisfactory. This proposal addresses several possible reasons for this. Also, there is only limited data currently available on the spectrum of mutations causing FH in non-white ethnic groups.
The specific aims for the three year PhD are:
1.To use Roche 454 ‘deep sequencing’ to scan the entire LDLR and PCSK9 genes in a)100 patients from the Indian subcontinent (and other ethnic groups) and b) in 100 DFH patients with no causative mutation identified.
2.To carry out “deep sequencing” in 25 DFH patients with no causative mutation identified, in 4-6 novel genes identified in GWAS studies as being associated with effects on LDL-C.
3.To develop in-vitro and in-vivo assays for sequences predicted to affect splicing in the LDLR.
Achievement of these aims will significantly improve the diagnostic detection rate of FH in UK patients of all ethnic groups, allowing efficient DNA-cascade testing in their families and thus treatment of and prevention of early CHD.
Please direct applications in the following format to:
Professor Steve Humphries
MRC Case Studentship
Third Floor, Rayne Institute
5 University Street
London C1E 6JJ
Electronic applications should be sent to kate.henderson@ucl.ac.uk
• A CV, including full details of all University course grades to date.
• Contact details for two academic or professional referees.
• A personal statement (750 words maximum) outlining your suitability for the project, what you hope to achieve from the PhD and your research experience to-date.
Any enquiries relating to the project and/or suitability should be directed Professor Steve Humphries (s.humphries@ucl.ac.uk). Please note that Professor Humphries should be contacted for enquiries ONLY and all applications should be directed to his assistant Kate.Henderson@ucl.ac.uk
Application deadline: Friday 16th April 2010
Please kindly mention Scholarization.blogspot.com when applying for this scholarship
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