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IDefine
celebrates
two-year
anniversary,
accomplishments
On September
17, 2020,
during the
COVID
pandemic,
IDefine was
launched. In
the last two
years,
incredible
progress has
been made.
On this KS
Awareness
Day, we’d
like to
reflect on
our
accomplishments,
and share
what’s
next.
Our theme
this year is
empowerment,
which is
evident
through the
work we’ve
done on our
three
organizational
pillars of
community,
coordinated
care, and
research.
In just the
last two
years we
have:
-
Raised
the
funds to
launch
the Kleefstra Clinic at Boston Children’s Hospital.
This has
resulted
in an
incredibly
impactful,
centralized
location
for
families
to
visit,
and for
clinicians
to not
only
further
understand
KS, but
to
advise
families
on their
journeys.
-
Held a
series
of
webinars
across
the
globe
that
have
educated
and
connected
our
community.
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A framework for evaluating neurodevelopmental disorders for gene therapy
With more than 1,000 genetic causes of intellectual disability and autism alone, which neurodevelopmental disorders which should researchers try to tackle with gene therapy, and what are the necessary steps to make that determination? Through its partnerships with the rare disease community – including IDefine – researchers at Boston Children’s Hospital decided a framework was needed for deciding.
Dr. Maya Chopra,
Director of Translational Genomic Medicine at the Rosamund Stone Zander Translational Neuroscience Centre at Boston Children's Hospital,
is the lead author on a new paper in
the journal Molecular Therapy:
Methods & Clinical
Development, that puts forth
such a framework. This collaborative effort that took almost two years of reading and learning and listening to the rare disease community.
The paper is intended for clinicians
and researchers building gene
therapy programs, scientists in the
field of gene therapy research, and
rare disease advocacy organizations.
Clinicians, scientists, and gene
technology companies could use the
framework to help focus gene therapy
development efforts on conditions
with a higher score for gene therapy
suitability. Advocacy groups and
funding agencies could utilize the
framework to identify gaps in the
body of research for a specific
disorder and direct funding
accordingly.
You can read the full paper here.
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42-year-old rabbi receives KS diagnosis, connects to community
Rabbi Ilan Glazer of Baltimore is 42 years old, and last month he was diagnosed with Kleefstra Syndrome.
This discovery came about tragically after Ilan and his wife, Sherri, were told by high-risk pregnancy specialists that their unborn son, Shemaryah, who was conceived through IVF had significant developmental issues leading them to make the heartbreaking decision to end the pregnancy. The University of Maryland genetics team did an amniocentesis to try and determine what caused Shemaryah’s condition and results showed a deletion in the 9th chromosome, which they thought was likely KS.
“They then sent my wife and I for testing to see if we might have a deletion and have passed it on to our son, and they told us that it was extremely rare, and no way would we test positive for a deletion,” said Ilan. “I did.”
Doctors at the Kennedy Krieger Institute told Ilan he has the mildest known case of Kleefstra Syndrome.
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Quick Clips on Kleefstra
-
Kleefstra
Clips: We
have uploaded some beautiful
videos of the Parmann and
Khoury families to our
IDefine YouTube Channel.
Please watch Cecilia's Story
and Gabby's Story.
Beautiful and inspiring.
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State
Proclamation
Requests:
Great job by Margo Metzger
on having North Carolina
recognize September 17th as
Kleefstra Syndrome Awareness
Day! Let's get a jump
on next year to raise
awareness! We are
asking that a family from each state request
that their governor declare
Sept. 17 as KS Awareness Day
annually by submitting this proclamation.
These ceremonial documents
can influence policy
discussions, public
awareness and offer
opportunities to engage with
elected representatives. To
ensure we are coordinated,
if you are interested in
submitting on behalf of your
state, please reach out at
unlock@idefine.org
-
Kleefstra Syndrome Census Project:
We are working to get an
accurate count of the number
of patients across the
globe! Join the Worldwide Map
and be counted!
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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!
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IDefine, Inc
925B PEACHTREE STREET NE BOX 2173 | Atlanta, Georgia 30309
unlock@idefine.org |
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