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In this edition:
- Kleefstra mom, Julie Drake,
joins IDefine as Director of
Partnerships
- Kleefstra selected for new
research study in partnership
with AllStripes and NCATS
- IDefine leadership recognized
by Global Genes
- Plus a roundup of other
KS-related feel-good news
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Although IDefine was just founded in
2020, it has expanded its network
globally, hosted conferences,
connected with researchers and
biotech firms, raised funding and
formed important partnerships with
organizations like Boston Children’s
Hospital, AllStripes and RARE-X.
Given the rapid growth,
IDefine needs more volunteers to
sustain – and accelerate – its
progress. The latest person to
formally join the team is Julie
Drake, a Kleefstra Syndrome mom from
Naperville, Ill., who has agreed to
serve as IDefine’s director of
partnerships.
Julie,
whose 15-year-old daughter, Amber,
was diagnosed with KS in 2016, will
work to maintain, leverage and grow
current partnerships and work on
identifying additional organizations
and foundations to work with.
Following several
conversations with Julie, IDefine
CEO Geoff Rhyne was convinced she
would be a great fit for the
position. |
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Kleefstra selected for new research study: AllStripes and NCATS are collaborating for research
We are excited to announce that
through our partnership with AllStripes,
the rare disease research platform,
Kleefstra syndrome has been chosen
as one of two focus conditions for
an upcoming study with the
National Center for Advancing Translational Sciences (NCATS) at
the National Institutes of Health
(NIH). You can see a press release
on the AllStripes and NCATS
collaboration here. For the study in
which Kleefstra syndrome will be
featured, AllStripes will capture
data on health-care utilization in
Kleefstra and another rare disease
before and during the diagnostic
period, with the goal of providing
data on the cost of rare disease,
especially for undiagnosed patients.
This will help grow understanding of
health-care utilization during
diagnosis, as well as understanding
individuals’ diagnostic journey.
AllStripes and iDefine are delighted
that the Kleefstra syndrome cohort
is the focus of a collaboration with
a national research institution. If
you haven’t already joined and would
like to be part of this and future
research studies you can participate
by signing up at
allstripes.com/Kleefstra. The
AllStripes team will collect your
records on your behalf, provide them
to you in a secure account at no
cost, and extract insights to power
research. The more we know about
Kleefstra syndrome, the more we can
do for the Kleefstra community!
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IDefine CEO recognized as a RARE Champion of Hope 2021!
Global Genes recognized
Geoff Rhyne, IDefine's CEO, as the
2021 RARE Rising Star Champion
of Hope this past week at an awards
gala in Philadelphia, PA.
"I am incredibly humbled to be
recognized amongst such amazing and
deserving leaders in the rare
disease space," Rhyne said.
"This award is a testament to our
whole team at IDefine: the Board,
the volunteers, our families, and
our supporters. It means the
world to me that more and more
people are finding out about
Kleefstra Syndrome through our
work."
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Quick Clips on Kleefstra
- New
Website: A huge thank
you to KS dad, Haluk Akin, and
his business partner, Seda
Kamermans, for their efforts on
building our beautiful new
website! Come see what is
happening at IDefine!
- Family Conference: We
are working on building out a
family focused conference and
gathering for the summer of 2022
outside of Chicago, Il! If
you would be interested in
joining in on the planning
committee, please reach out to
us at unlock@idefine.org.
- Giving
Tuesday: Giving
Tuesday is November 30th, 2021,
and we are focused on an our
gratitude to all of our
supporters this past year!
If you are thinking about doing
a fundraiser, we would recommend
doing something on Facebook
beginning on Tuesday,
November 30, 2021 at 8am Eastern
Time. This year, Facebook
will be matching qualifying
donations to nonprofits until
the $8M match runs out!
If you are interested in
launching an effort, we are
happy to offer guidance and
support--just reach out!
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IDefine, Inc
925B PEACHTREE STREET NE BOX 2173 | Atlanta, Georgia 30309
unlock@idefine.org |
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