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IDefine
invests in
developing
stem cell
line
models
Last month, on Kleefstra Syndrome Awareness Day, IDefine announced it had signed a contract to develop iPSC’s – stem cell line models that have been created with Kleefstra Syndrome – that can be used to test potential therapeutics. The investment, coupled with existing mice models, will provide information critical to determining effectiveness and safety issues prior to going into human clinical trials.
One line is
being made
with cells
provided by
a member of
the KS
community, a
second line
is being
provided by
a parent of
that person
with KS (as
a control),
and a second
KS line is
being
created
using
CRISPR, a
gene editing
tool.
“CRISPR lets
you make
very precise
modifications
to cell
lines,” said
IDefine
Chief
Science
Officer Eric
Scheeff.
“What we're
going to do
is put the
exact same
mutation
that the KS
patient has
into the
parent’s
cells.
That's
called an
isogenic
line. What
that means
is the
control line
has only one
change in
it, and it’s
the mutation
to EHMT1. So
now you have
a control
line and a
disease
model line
that are
completely
genetically
identical,
except for
that one
change.
“It's very
helpful for
experiments
because if
you see a
difference
between the
parent’s
line and the
CRISPR line
in an
experiment,
it's very
likely it’s
because of
the mutation
in EHMT1.
Then we also
have the
real-world
KS patient
line. We can
use all
those lines
together in
experiments
and show how
they are
behaving.
It's a very
powerful way
to be able
to compare
your data
when you're
doing
experiments.”
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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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Conference provides insights for rare disease organizations
The annual Global Genes RARE Patient Advocacy Summit
held last month in San Diego is one
of the world’s largest gatherings of
rare disease patients, caregivers,
advocates, healthcare professionals,
researchers, and partners. Sessions
provided insights about the latest
in rare disease innovations, best
practices for advocating on an
individual and organizational level,
and actionable strategies to take
home.
Chief Scientific Officer Eric Scheeff
attended on behalf of IDefine and
came away optimistic and energized.
“It’s exciting just how much is
happening in this space, how it's
exploding with activity, and how
there are so many people focused on
rare diseases,” said Scheeff. “So
many companies are springing up
because they see an opportunity
here. That's incredibly exciting
because it means as an organization,
we have options about who we work
with and what we explore
preclinically in terms of a possible
treatment.” |
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Quick Clips on Kleefstra
-
Brianna's
Brigade: This
coming Sunday, October 23rd,
the Reed family is hosting
their 3rd Brianna's Brigade Walk + Pumpkin Carving!
Apple cider, pumpkin
carving, a community
supporting each other, and
DONUTS! Cheers to a
great event celebrating the
beautiful Brianna, and THANK YOU!
-
Southern Roots Reunion:
We are 6 months away from
the 2nd annual Southern Roots Reunion
benefitting IDefine.
At the inaugural event, we
had 13 KS families from
across the country attend,
connect, and enjoy some
great food and music!
Follow along on Instagram
@southernrootsreunion and
Facebook @southernrootsreunion!
-
Camp Spearhead-IDefine Open:
This past Monday, October
17th, the 15th Annual John
Cameron Memorial Camp
Spearhead-IDefine Open was
held in Greenville, SC.
32 teams of four came out
for a beautiful day and
raised over $210,000 for
these two great charities!
-
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!
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IDefine, Inc
925B PEACHTREE STREET NE BOX 2173 | Atlanta, Georgia 30309
unlock@idefine.org |
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