Supplementary memorandum by the Medical
I am writing to respond to the questions regarding
MRC funding for research in genomic medicine in your e-mail of
9 May, and also to follow up with some more detail on points made
in the oral evidence session on 30 April.
Within the total figure of £50 million
spend in the financial year 2006-07, the major scientific categories
are, Genetics of specific disease, Genetic epidemiology, Genome
instability (all £9 million pa), followed by Global Health
and Gene therapy (£3 million-£4 million pa). Spend on
genetic biomarkers and pharmacogenomics, is as yet very low (£2
The spend was split across various forms of
support as follows:
|Type of funding||Amount spent in 2006-07
|Fellowship (extramural)||£2 million
|Grant (extramural)||£15 million
|Unit (intramural)||£33 million
|Grand Total||£50 million
Our records show, in addition to the UK Biobank project to
which MRC has committed a total of £26.5 million to date:
The three major MRC Institutes (NIMR, LMB, CSC), and the
MRC Human Genetics Unit, Functional Genomics Unit; Epidemiology
Unit; and Mammalian Genetics Unit all represent investments of
over £5 million every quinquennium.
There are four individual grant programmes of more than £5
million eachthough in some cases the investment covers
5-10 years, as the grant has been renewed:
|Grant||Professor J Connell/
Professor M Caulfield
|University of Glasgow/|
Queen Mary, University of London
|The MRC British Genetics of Hypertension Study
|Grant||Professor T Moffitt
||Institute of Psychiatry||Geneenvironment interplay in early-onset psychopathology
|Grant||Professor J Golding
||University of Bristol||ALSPAC: A reference population for genetic and environmental epidemiology
|Unit/Grant||Professor T Rabbitts**
||MRC Laboratory of Molecular Biology/Leeds
||Modelling the role of chromosomal abnormalities in cancer
|*For the grants, the Amount Awarded is the amount awarded over the whole life of the grant. For the unit project, it is the amount spent over the period 2003-04 to 2006-07 (comparable Amount Awarded not available).
**Professor Rabbits has since moved to the University of Leeds where he has a somewhat smaller MRC funded programme.
Complete figures for spend on Genomic Medicine are only available
from 2003/04 onwards. They are as follows:
MRC spend on genomic research and genomic medicine over the
next 3-5 years is difficult to estimate, but it is likely to remain
at approximately the same level.
Professor Van Heyningen has provided some additional information
to follow up the points made in the oral session. She confirms
that availability of sufficient computer processing power is currently
a problem in carrying out discovery phase studies to identify
genetic risk. The initial genome-wide association studies with
individual markers are feasible, but it is not possible to do
genome-wide haplotype analysis or imputation for lack of computing
power, even when using the Edinburgh Parallel Computing Centre.
Marker interactions are also not feasible to assess genome-wide.
Population stratification will be and is already beginning
to be feasible for determining on the basis of allelic markers
who should be screened for several cancer phenotypes, for example
colorectal and breast cancer.
In many later onset diseases there is a very significant
genetic component as yet unaccounted for by genetic association
studies. Re-sequencing and identification of rare larger effect
variants is going to be important for many diseases where we know
there is quite a lot of familial recurrence but where common variants
do not account for a large proportion of this genetic component.
The recent Science paper (Walsh et al Science. 25 April
2008; 320(5875):539-43) associating copy number variants (CNVs)
with schizophrenia is a potential landmark. Much of the familial
risk will come from rare large effect variants coming from a moderately
large pool of genes. It will be difficult to identify which are
causative pathological mutations but this area will probably be
more important clinically because the effects are much stronger
and risk predictions correspondingly mproved. There is a need
for increased re-sequencing capacity and also more research on
how best to identify causative variation.
I hope this additional information is helpful to the committee.
21 October 2008