Genes
Linked
to
Cardiovascular
Disease
Identified
by
Genomics
Researchers
November,
28
2000
--
SEQUENOM,
Inc.
and
Gemini
Genomics
today
announced
the
first
discoveries
from
their
collaboration
formed
earlier
this
year,
including
the
identification
of
two
novel
genes
linked
to
cardiovascular
disease.
There
was
no
previously
known
association
of
these
genes
with
levels
of
high-density
lipoprotein
(HDL)
and
cholesterol
in
the
blood,
key
risk
factors
for
heart
disease,
atherosclerosis
and
type
II
diabetes.
These
genes
were
identified
using
SEQUENOM's
MassARRAY(TM)
technology
and
full
genome
screen
approach
and
Gemini's
DNA
samples
and
clinical
data
covering
common
human
metabolic
diseases.
The
companies
will
commercialize
the
results
by
jointly
licensing
discoveries
to
pharmaceutical
and
healthcare
companies
for
the
subsequent
development
of
diagnostics
and
therapeutics.
In
addition
to
the
new
gene
discoveries,
SEQUENOM
and
Gemini
have
confirmed
several
previously
known
associations
between
genes
and
HDL
and
cholesterol
levels.
Among
the
identified
associations
were
markers
in
the
cholesterol
ester
transfer
protein
(CETP)
and
other
genes
previously
correlated
with
HDL
levels.
These
confirmations
validated
the
novel
strategy
employed
in
the
collaboration
which
permits
disease
gene
discovery
at
an
unprecedented
rate.
"Cardiovascular
diseases
cause
12
million
deaths
in
the
world
each
year.
Within
a
very
short
period
of
time,
SEQUENOM
and
Gemini
have
identified
major
genetic
contributors
to
HDL
and
cholesterol
levels,
top
risk
factors
for
cardiovascular
disease,"
said
Toni
Schuh,
Ph.D.,
SEQUENOM's
president
and
chief
executive
officer.
"This
information
can
be
used
for
potential
gene-based
therapeutics
and
diagnostic
tests
for
an
individual's
susceptibility
to
cardiovascular
disease,
bringing
us
one
step
closer
to
eliminating
costly
and
painful
diagnostic
procedures
and
ineffective
drug
prescriptions.
The
early
success
of
this
study
was
based
on
the
unprecedented
data
quality
and
efficiency
of
our
MassARRAY
system
and
automated
assay
design
and
the
quality
and
consistency
of
Gemini's
clinical
resources."
"Gemini
and
SEQUENOM
formed
the
collaboration
in
April
this
year
with
the
objective
of
initiating
the
largest
commercial,
prospective
mining
operation
for
gene-disease
associations
ever
undertaken.
These
first
results
were
obtained
less
than
six
months
since
we
began
work
on
the
collaboration,
much
sooner
than
we
had
anticipated,"
said
Dr.
Paul
Kelly,
Gemini's
president
and
chief
executive
officer.
"The
findings
represent
a
significant
breakthrough
in
our
understanding
of
the
causes
of
cardiovascular
disease
and
offer
the
very
real
prospect
of
developing
novel
therapeutic
and
diagnostic
solutions
for
this
and
other
chronic
diseases."
Collaboration
Gemini
has
amassed
a
vast
clinical
resource
of
DNA
and
associated
clinical
information
that
is
unparalleled
in
terms
of
depth
and
breadth
of
human
disease
coverage.
It
is
this
resource,
collected
with
reference
to
the
latest
advances
in
clinical
and
genetic
research
within
each
targeted
therapeutic
area
that
provides
the
potential
for
partnering
with
innovative
genomics
technologies.
These
partnerships
create
valuable
intellectual
property
by
discovering
genes
associated
with
common,
chronic
human
diseases.
For
this
collaboration,
SEQUENOM
used
its
capability
to
characterize
SNPs
in
pools
of
hundreds
of
DNA
samples
in
a
single
reaction
without
any
further
optimization.
Through
sample
pooling,
SEQUENOM
is
able
to
screen
many
SNPs
across
the
genomes
of
many
individuals
simultaneously
to
identify
SNPs
and
genes
with
medical
utility
rapidly
and
accurately.
This
full
genome
screen
approach
is
possible
due
to
the
high
data
quality
of
the
MassARRAY
system.
"SEQUENOM
has
the
ability
to
analyze
SNPs
located
in
virtually
all
genes
of
the
human
genome,"
said
Andreas
Braun,
M.D.,
Ph.D.,
SEQUENOM's
chief
medical
officer.
"More
than
400,000
SNP
assays
are
already
designed
that
enable
a
hypothesis-free
validation
strategy
of
human
genetic
variability
in
disease
populations.
The
collaboration
with
Gemini
is
clearly
a
proof-of-concept
for
this
scientific
strategy,
which
is
available
to
the
life
science
arena."
About
Gemini
Genomics
plc
Gemini
(Nasdaq:
GMNI)
is
a
clinical
genomics
company
focused
on
the
discovery
and
commercialization
of
novel
gene-based
targets.
Gemini's
approach
integrates
comprehensive
clinical
data
and
detailed
genetic
information
from
a
wide
range
of
human
population
groups,
including
twins,
disease
affected
families,
isolated
(founder)
populations
and
drug
trial
subjects.
By
investing
in
leading
edge
bioinformatics
technologies,
Gemini
is
able
to
effectively
apply
these
resources
to
the
acceleration
of
disease
gene
identification,
target
discovery,
and
drug
development.
With
offices
in
the
United
States,
United
Kingdom,
and
Sweden,
Gemini
aims
to
maximize
revenue
generation
arising
from
the
commercialization
of
its
discoveries
by
retaining
control
over
the
gene
discovery
process
and
taking
advantage
of
the
greater
potential
value
offered
by
later-stage
licensing
opportunities.
For
more
information
about
Gemini
Genomics,
visit
the
company's
website,
www.gemini-genomics.com.
About
SEQUENOM,
Inc.
SEQUENOM
(Nasdaq:
SQNM)
supplies
systems
and
implements
programs
for
the
systematic,
large-scale
validation
of
genetic
variations
and
their
medical
utility.
The
Company
is
able
to
complete
full
genome
screens,
the
analysis
of
a
disease
association
of
many
SNPs
across
all
genes
in
the
human
genome
and
in
many
individuals.
SEQUENOM's
SNP
analysis
solution
consists
of
the
highly
accurate
and
efficient
MassARRAY
system,
an
automated
assay
development
process
and
assay
database,
the
ability
to
analyze
hundreds
of
samples
in
a
single
reaction
and
a
proprietary
DNA
bank
for
a
proven
health-based
concept
for
genetic
marker
validation.
As
a
leader
in
SNP
analysis,
SEQUENOM
has
sold
17
MassARRAY
systems
to
customers.
SEQUENOM
uses
its
MassARRAY
technology
with
a
novel
scientific
strategy
to
identify
the
medical
utility
of
SNPs
for
diagnostic
and
therapeutic
applications.
SEQUENOM
is
headquartered
in
San
Diego,
California
with
offices
in
Hamburg,
Germany
and
Boston,
Massachusetts.
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