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IDefine Europe helps connect Kleefstra Syndrome communities
It is estimated that there are about 260,000 Kleefstra Syndrome patients worldwide, only 11,000 of which are in the United States. It’s a statistic underscoring the need for a global effort to develop a targeted treatment for KS.
IDefine Europe, Foundation for the Advanced Treatment of Rare Genetic Diseases
– a
nonprofit,
non-government
organization
established
in May 2022
– is leading
the way in
Europe.
Dr. Tanja Zdolsek Draksler of Slovenia was serving as IDefine’s international ambassador, but when not having a formal European organization behind her restricted involvement with the rare disease community there, she decided to establish the NGO.
“There are
so many
differences
within
Europe and
the USA, and
these are
not only
cultural
differences,
it is the
whole
setting,”
said Tanja,
whose
daughter
Adja, 7, has
KS. “Having
more
organizations
across the
world
advocating
for
Kleefstra
Syndrome and
connecting
parents and
organizations
is vital. It
is essential
that we take
certain
activities
to a
regional and
continental
level. On
the other
side, as
Kleefstra
Syndrome is
rare, we
also have to
act
globally, so
being
connected
and working
hand in hand
is
key.”
Tanja selected the IDefine Europe name because she wants to continue to act as a bridge between communities, and to leverage established links and activities.
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Receive report on developments across rare disease landscape
As a partner of both Global Genes and the data-sharing platform RARE-X, IDefine was pleased to see the two entities merge earlier this year. The joining of forces is expected to lead to an expanded focus on enabling next-generation patient advocacy. In fact, Global Gene’s NEXT 2023 report highlights the central role patients are playing in advancing research and development of rare disease therapies.
The report provides an overview of developments across the rare disease landscape and highlights trends in research, diagnosis, development, and treatment, as well as the changing regulatory and financial environment. Read about:
- How new genome sequencing technologies are cutting the cost and accelerating the speed of making a diagnosis
- How patients are taking a hands-on approach to research to change the fundamental understanding of some rare diseases.
- What advances were made on the policy front in rare disease and the unfinished work that will be addressed in the coming year.
Fill out the form to receive your free electronic copy of the report.
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Event Spotlight: Greenville, SC Comes Out to Support IDefine!
On Saturday, March 18th, the St. Paddy's Day 5k Dash + Bash was held in Greenville, SC! The event, hosted by Palmetto Children's Charity, was held as a fundraiser to benefit two charities: IDefine and Camp Spearhead, a camp for adults and children with special needs.
The race and after party were held downtown at Fluor Field, the baseball field of the Boston Red Sox Single A affiliate, The Greenville Drive.
Over 1,200 runners came out for the race
that included a 5K run, a 1 Mile
Dash, and a kids fun run!
Afterwards, green beer was enjoyed
along with food, community
engagement, and a raffle!
We are incredibly grateful for the
efforts of the Event Chair, Andrea
Newman, and the Board members of the
Palmetto Children's Charity: Mark
Gettig, Kyle Thompson, Chuck Villa,
Paul Dilworth, Michelle Dodge, and
Fred Bentfeld. Due to their
tremendous volunteer efforts, the
race was able to surpass $40,000 in
donations to the benefitting
charities. Amazing work!
To catch a glimpse of the day, click
on the button below! |
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Quick Clips on Kleefstra
-
Sleep
Study
Enrollment:
The research team is excited
and grateful to have had
over 40 people signed up!
As we are reaching the end
of our study-period, we are
providing a final reminder
to sign up prior to the end
of this month (31st of
March). The more
people participate, the more
reliable and valuable the
survey outcomes will be.
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
-
Conference
Planning: We
are looking for volunteers
to help with the planning
and execution of our 2023
Conference to be held this
September! If you are
interested in helping
further build our community
and our impact, please reach
out!
-
IDefine
Slack Channel:
Interested in further
connecting with IDefine and
the Kleefstra community?
Join our IDefine Slack Channel!
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IDefine, Inc
925B PEACHTREE STREET NE BOX 2173 | Atlanta, Georgia 30309
unlock@idefine.org |
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