IDefine joins AGENDA
“There is strength in numbers,
yes, but even more so in
collective good will. For those
endeavors are supported by
mighty forces unseen.” –
Richelle E. Goodrich, author.
EHMT1, the compromised gene in
Kleefstra Syndrome, has also been
identified as a causative gene in
autism spectrum disorder. Several
other genetic syndromes are also known to be associated with autism.
That’s why IDefine has joined forces
with more than 20 other patient
advocacy groups in the Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism (AGENDA).
The group was founded about four
years ago with five groups, but has
grown as more disease groups have
emerged.
The mission of AGENDA is
to improve outcomes for individuals
with all forms of autism by
fostering a genetics-first approach
to autism and neurodevelopmental
disorders research, and by
strengthening collaborations among
organizations representing
genetically-defined disorders
associated with neurodevelopmental
disorders and autism.
“Families with Kleefstra Syndrome
are special, they are part of a
family” says Alycia Halladay, chief
science officer of the Autism
Science Foundation and project
manager of AGENDA. “But they should
understand that they are also a part
of a larger family of genetic
diseases. Many share similarities,
and we can help each other with
awareness, working with
pharmaceutical companies and
identifying core things to do as a
group so they can be done faster and
more efficiently. There is strength
in numbers.”
Since IDefine is actively involved
in a number of areas in the rare
disease space, Geoff Rhyne, CEO of
IDefine, has been asked to join
AGENDA’s executive committee.
“Geoff has great ideas and insights,
and we’re thrilled that he will help
us with our high-level decisions and
priorities,” said Halladay.
Recently, AGENDA has been working on
surveying the needs of families
during COVID to find out what
services are helpful, holding joint
meetings on common features across
disorders, looking into
gastrointestinal issues in rare
genetic disorders, and working with
the National Society of Genetic
Counselors to ensure that when
families receive a rare diagnosis
they are referred to patient
advocacy groups rather than just a
website.
AGENDA also facilitates
collaboration on grants, maintenance
and expansion of group registries,
and improved communication to
stakeholders around issues that
common among genetic disorders.
This joint cooperation avoids duplication of efforts and helps each organization focus on the families, rather than issues that are of concern across groups.
|
