|
|
|
|
|
|
|
KS census number a top priority in 2023
Following
the
successes
and
accomplishments
of last
year, one of
IDefine’s
priorities
in 2023 is
identifying
more people
with
Kleefstra
Syndrome and
where they
are
located.
IDefine is
generating
this “KS
Census”
number
utilizing
the
Kleefstra
Syndrome Worldwide Map.
At the
beginning of
December,
103 people
had signed
up to be
counted.
Following a
social media
push last
month, that
number has
surged to
338.
“We’re going
to report on
the KS
Census
number each
quarter,”
said IDefine
CEO Geoff
Rhyne. “That
will enable
us to show
an upward
trajectory
over time
underscoring
that
Kleefstra
Syndrome is
a severely
underdiagnosed
condition,
and that we
are
discovering
new patients
every single
day – and we
know where
they are. We
know that
there are at
least 900
diagnosed
patients out
there.”
This is a
critical
effort for a
few reasons.
One is that
scientists
need to be
sure that
rare
conditions –
like KS –
have the
patient
population
necessary to
conduct
viable
research.
And for drug
developers,
having this
population
available is
critical
when they
consider
whether or
not to
develop or
test
medications
for a
condition
like
KS.
“In our
conversations
with drug
developers,
we’ve
repeatedly
heard that
it isn’t
enough for a
rare disease
community to
have an idea
of how many
patients
there are.
They need to
know
concrete
numbers of
patients
that can be
contacted,
and their
geographic
locations”
said IDefine
Chief
Scientific
Officer Eric
Scheeff.
“Drug
developers
need
reassurance
that, if
they are
successful,
there will
be a patient
population
ready to
collaborate
with them in
a clinical
trial. If
they don’t
see that,
they may
choose to
work on
other
conditions
where this
data is
available.”
|
|
|
|
|
|
|
|
|
|
|
|
Chief Scientific Officer Corner, Volume 1
Hello fellow members of our KS
family and welcome to the CSO
corner! Going forward, I’ll be using
this column to provide insights and
highlights on all the scientific
goings on in Kleefstra Syndrome, and
the rare disease space in general.
This is an exciting time in the rare
disease world, and there is so much
to tell.
For this newsletter, I’d like to
address a fundamental scientific
question: just how big is our KS
family? Or in other words, how many
people have KS in the world, whether
they know it or not?
This is actually a really
challenging question! As you
probably know, KS is almost always
caused by a spontaneous genetic
change in our affected family member
(which occurred in the sperm, egg,
or zygote very early in
development). In other words, with
some narrow exceptions, it does not
“run in families”, and there isn’t a
“KS gene variant” in the population
that we can track to determine how
many people will be born with KS per
year.
Adding to this challenge, the
clinical spectrum for KS is very
broad, which is a fancy way to say
that people with KS can be quite
variable and diverse. This means we
can’t easily find everyone with KS
through a simple clinical checklist.
We need comprehensive genetic
testing. |
|
|
|
|
|
|
Looking Back, Looking Forward
With the end of 2022, we mark the 2nd year of IDefine’s existence. We are moving with an incredible sense of urgency, moving our way towards a targeted treatment to combat the challenges put upon our loved ones with Kleefstra Syndrome and those caring for them. In just 2 years, we have established ourselves as a leading organization in the rare disease community with our commitment to our 3 pillars of focus: Building the Kleefstra Syndrome community, Developing Coordinated Clinical Care for patients with Kleefstra Syndrome, and Propelling Research towards a therapeutic intervention for Kleefstra Syndrome. In 2022, we made some significant strides across all three pillars.
As we have said before, we yearn for the day of “no more nevers.” We pray for the day where our loved ones aren’t suffering from Kleefstra Syndrome. Tragically, our community mourned the loss of 6 individuals with Kleefstra Syndrome in 2022 alone. We must intervene and build a brighter future for our loved ones.
We have a small but mighty team working collectively to further our mission and create opportunities, and we are grateful to our donors who enable this work and fuel our hope.
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Quick Clips on Kleefstra
-
Eat
Justice
Initiative:
We are thrilled to share the
success of this opportunity!
In the month of December,
Mecha Noodle Bar
sold 51,842 bowls of ramen. That equates to $25,921 raised for IDefine,
and it set the
record for
most bowls of ramen and
funds raised in a month by
Eat Justice! We are
blown away and grateful for
Chef Brian Reilly and Tony
Pham! Do you know any
business owners or
restaurateurs in your
community that may be
interested in such an
effort? If so, let's
get connected!
-
IDefine
Slack Channel:
Interested in further
connecting with IDefine and
the Kleefstra community?
Join our IDefine Slack Channel!
-
Sleep
Study
Enrollment: We are looking for participants for an inventory study on sleep within Kleefstra syndrome. Anyone older than 3 years with Kleefstra syndrome can participate in this study. Participation is voluntary, and if interested, please reach out to sleep.gen@radboudumc.nl
-
Committee
Formation:
IDefine is pleased to
announce the formation of a
committee focused on
diversity, equity, and
inclusion. Would you
like to be involved in
assisting us with this
important initiative?
Please reach out to
unlock@idefine.org to
discuss further!
-
Host
a Fundraiser and Get
Involved: We
invite you to lean into our
effort to build a brighter
future for our loved ones.
IDefine is seeking help for
conference planning,
community development, and
fundraising. If you
are interested in helping to
push our initiatives
forward, please reach out
today at unlock@idefine.org.
Help define a new future!
|
|
|
|
|
|
|
IDefine, Inc
925B PEACHTREE STREET NE BOX 2173 | Atlanta, Georgia 30309
unlock@idefine.org |
|
|
|
|
|
|
|
|
|
|
|
