Month: October 2021

SETBP1-HD – what does this mean?

SETBP1-HD – what does this mean?

by haley / On Posted in Resources

What is SETBP1-HD you ask? Well, it is the new way to refer to SETBP1 disorder. Earlier this year, two publications recommended referring to the neurodevelopmental disorder caused by a SETBP1 loss-of-function variant as SETBP1 haploinsufficiency disorder. This is an accurate description as haploinsufficiency means one copy of a gene is inactivated or deleted and the […]

Speech Tracker – NEW SETBP1 Speech and Language Study JUST LAUNCHED!

Speech Tracker – NEW SETBP1 Speech and Language Study JUST LAUNCHED!

by haley / On Posted in Research

With the overwhelming SETBP1 community participation and completion of the first SETBP1 Speech and Language Study, resulting in a publication and soon-to-be-released SETBP1 Resource Guide, a new SETBP1 Speech and Language Study has kicked off. This study titled the Speech Tracker will monitor speech and language patterns from individuals with SETBP1 haploinsufficiency disorder over a […]