BCCGN
was founded in September 2007 with the support of the Michael Smith
Foundation for Health Research. The Network provides BC clinicians
with access to the provinces state of the art genomics technologies
and to experts in the field. With this help, BC clinicians are
able to conduct research studies into the genetic basis of disease
so as to benefit their patients and increase medical knowledge.
The
Network got off to a good start. During its first year of
operations staff and advisers were recruited,
operations were set up and over ten clinicians were assisted to
access genomics technologies and conduct research studies. These
studies included a wide range of therapy areas spanning
cardiovascular disease, autism and developmental, immunological,
neurological and respiratory disorders.
For
a list of BCCGN members and their studies click here
BCCGN Co-Founder Receives
Award
BCCGN
co-founder Michael Hayden MD PhD recently received the Canadian
Institutes of Health Research's (CIHR) Michael Smith Prize in Health
Research: Canada's Health Researcher of the Year award. CIHR grants
this award annually to a Canadian researcher who
has demonstrated outstanding commitment, innovation,
creativity, achievement and leadership in health research. Dr.
Hayden plans to use the award of $500,000 to support training
in Global Health, Rare Diseases, Mental Health, and Biotechnology.
Dr Hayden was also one of the five finalists for the Globe and
Mail's 2008 Nation Builder.
BC
physicians are beginning to apply genomics technology to address
important and elusive clinical problems. One case in point is
clinical investigator Dr. Michelle Demos who contacted BCCGN
with questions about how to study some of her patients using
genomics technology.
Dr
Demos, a neurologist, works with children who have epilepsy. In many
cases the underlying cause of the condition is unknown and the
seizures may be poorly controlled with the available
medications.She
wanted to search for deletions and duplications in the DNA of her
patients, called copy number variants (CNV's) that could give clues
about the genes and biological processes that were causing seizures
and other symptoms in her patients.
The
Network helped Dr Demos to design and conduct a pilot study for
eight patients using array comparative genomic hybridization (ACGH)
to detect copy number variants. This study resulted in the
identification of three chromosomal rearrangements that may contain
regions that map to possible genes of interest. Dr Demos intends to
publish her data and is also applying for a grant so that she can
conclude a much larger study of seventy patients.
By
using this approach Dr Demos hopes to identify new epilepsy genes.
This will improve the information that genetic counselors can give
to families and may well reduce the
number of investigations performed on patients and lead
to new approaches to treatment and improved patient care.
Technology in Focus - High Throughput
Genotyping
Genotyping
is a genetic test that can be used to track how disease genes pass
from one family member to another and to study the distribution of a
disease gene in a population of patients. The
technique looks for common genetic variations called single
nucleotide polymorphisms (SNP's) that may be located close to a gene
that has been altered and can therefore be used as a genetic marker.
If there are several affected family members in a family, then the
same SNP will follow the disease gene as it gets passed from one
family member to another. Knowing which SNP is "linked" to the gene,
and where that SNP is located in the genome can help determine the
location of the disease gene. SNP genotyping can also be used to
look for SNP's that associate with particular disease genotypes such
as heart disease, Alzheimer's disease and diabetes using large
numbers of unrelated individuals. Clinicians involved in studies
that identify SNP's associated with a particular disease or risk can
help achieve a greater understanding of the condition and better
therapies for their patients
And
you can down load a more detailed fact sheet here
BCCGN
Activities - Recruitment
The
Network is recruiting for a post doctoral fellow in genetic
epidemiology to help BCCGN researchers with their studies. The
position was advertised in September and we are now interviewing the
most promising candidates.
Physician
Survey
BCCGN is
conducting a survey of all physicians in BC to help us understand
how many are engaged in research. We also wish to better understand
the barriers to physician research so that we can develop strategies
to help.
You can
help us by filling out the physician survey here
Funding
Updates
BCCGN
researcher, Christele Du Souich received a 2008
Telethon Award of $28,581 for her pilot study on the genetics of
behavioral and psychiatric disease. The
study focuses on a multi-generational family where the carrier
females have psychiatric disease and affected males have severe
mental retardation and are aggressive and irritable. Christele hopes
to identify and characterize the gene and related biological
pathway(s) involved in this family's disorder.
For more
information on 2008 Telethon Awards click here
Events
Calendar
BCCGN
completed 18 roadshow presentations during its first year and is
currently looking to schedule presentations to additional groups of
researchers and physicians. The Network is also planning its first
annual conference for April 2009
This message was
sent from Shelin Adam to lesleyp@interchange.ubc.ca. It was sent
from: BC Clinical Genomics Network, Department of Medical Genetics,
childrens and Womens Hospital, Box 153 - 4480 Oak Street, Vancouver,
BC V6H 3V4, Canada. You can modify/update your subscription via the
link below.
Manage
your subscription 
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