Neurodegenerative Disorders. - School of Medicine - Cardiff University

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4 Οκτ 2013 (πριν από 4 χρόνια και 1 μήνα)

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Overview of MRC Centre for
Neuropsychiatric Genetics
and Genomics

Michael J Owen

Mission

Use genetics and genomics to inform our
understanding of the aetiology, pathogenesis
and classification of the major psychiatric and
neurodegenerative disorders.


Train a cadre of clinical and non
-
clinical scientists
capable of delivering this discovery and
translational agenda.

Genetics

Clinical Studies

Pre
-
clinical

Studies

Population

Studies

Major disease foci

The major causes of psychiatric
morbidity and mortality including:


Neurodegenerative disorders


Alzheimer disease


Parkinson disease


Huntington disease


Schizophrenia


Mood disorder


Bipolar Disorder


Unipolar

Disorder


Childhood psychiatric and
developmental disorders


ADHD


Depression


Dyslexia

Cross cutting themes


Psychosis and Major Affective
Disorders.


Nick Craddock


Neurodegenerative Disorders.


Julie Williams


Developmental Disorders.


Anita Thapar


Genetic and Cellular models.


Lawrence Wilkinson


Biostatistics and Bioinformatics
.


Peter Holmans

2010 Cardiff University establishes 3
cross school research institutes.

NMHRI Mission


Harness the internationally
recognised strengths in
neuroscience research in Cardiff
to deliver new insights into the
major
neurodegenerative

and
psychiatric

disorders.



Major focus on developing novel
translational interfaces between
the work of MRC Centre for
Neuropsychiatric Genetics and
Genomics and the wider Cardiff
Neurosciences community.



The Gateway Building

MRC centre support for biostatistics
and bioinformatics


Databasing and biostatistics posts.


SL in bioinformatics/ computational biology.


3 joint PhD students with COMSC.


Regular forum


to encourage joint research.



Existing collaboration on MSc.

What we do


Genomic data


Genome
-
wide association
studies


Genome
-
wide copy number
variation


Whole exome and genome
sequencing


Other data


Transcriptomics


Proteomics


Annotated complexes and
pathways


Brain imaging


Cognition


Clinical including routinely
collected data




Very complex genetics


We seek insights into:


Association of single and
multiple DNA events with other
datasets


Nature of interactions


Disease pathways and other
biological relationships


BD:
modulation of transcription and cellular
activity, including via hormonal action

12

C
opy
N
umber
V
ariants

deletion

duplication

Comparative Genomic Hybridisation

SNP Chips

Do SZ CNVs converge on synaptic
pathways?


Causal role of most
individual CNVs not
established


Annotation gap


Biases esp gene size not
excluded in most studies


One study using formal test
found nominal evidence for
enrichment in “neuronal
-
activity” and “learning
gene” sets in ISC vs controls
(Raychaudhuri et al 2010).


Study of
de novos

Challenges


Extracting biological meaning from multiple genetic
signals


Algorithms and platforms for estimating disease risk


Prediction of functional consequences of sequence
variation


Understanding relationships between complex
genomic data and complex phenotype data (clinical,
cognitive, imaging etc)


Linking research and routinely collected clinical data