JavaScript isn't enabled in your browser, so this file can't be opened. Enable and reload.
Simons Searchlight Gene List Addition Request Form
At Simons Searchlight, we regularly update our research inclusion list, adding new genes and copy number variants a few times a year.
Before submitting your request, please review our current list of
eligible genetic conditions
.
To propose your genetic condition for our study, complete this form and provide relevant details. We understand you may not have all the information, but the more details you can provide, the better we can assess your request.
Sign in to Google
to save your progress.
Learn more
* Indicates required question
Your name:
*
Your answer
Email address (to contact about the request):
*
Your answer
Person making the request. Check all that apply.
Researcher or clinician
Parent/guardian of a child with a genetic condition
Representative of a patient advocacy group or organization
Other:
For successful participation in Simons Searchlight, it's crucial for us to collaborate with an existing patient advocacy organization or an active genetic Facebook group. Without an engaged patient community, we only attract a few participants, which is not beneficial for a rare community. With patient support, we gather meaningful data for researchers. The Simons Searchlight Genetic Decisions committee emphasizes the importance of having a patient community interested in our registry.
Can you share how you’re connected with a supporting patient advocacy community or online
community?
*
Your answer
Gene/genetic condition requested.
*
Your answer
How many people have been reported with the condition? Include people from the medical literature or Facebook groups, etc.
Your answer
Please share the medical features associated with the condition. Check all that apply.
Seizures
Autism
Developmental delay/intellectual disability
Eye/vision issues
Gastrointestinal issues
Mobility issues
Speech issues
Growth issues
Behavioral challenges
Immune issues
Other:
Mode of inheritance of the condition.
X-linked (on the X chromosome)
Autosomal dominant (one genetic variant causing the condition, not on the X chromosome)
Autosomal recessive (two genetic variants in the same location causing the condition)
Clear selection
Is the gene associated with any other genetic conditions on our current
inclusion list
? If yes, please let us know which one(s).
Your answer
Is there another research registry for the condition, such as a registry that collects natural history information, but not a contact registry?
Yes
No
Do not know
Clear selection
What do you hope to get out of your/your genetic community’s Simons Searchlight participation?
Your answer
Please share any other comments or questions with our team.
Your answer
Submit
Clear form
Never submit passwords through Google Forms.
This form was created inside of Boston Childrens Hospital.
Report Abuse
Forms
