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.