SRSF1 Community
Join our community of patients with SRSF1 mutations and their families.
Our mission is to help every patient and their families connect with others affected by SRSF1 genetic disorders and help support the research needed for future treatment.
What Our Community Offers
HELP YOU CONNECT WITH OTHERS
SRSF1 haploinsufficiency is so rare that most patients and their families never meet anyone else who understands it. If you're a parent who learned about the diagnosis recently or someone who's been living with it for years, this is a safe place to connect with people who understand and may share similar experiences.
HELP YOU UNDERSTAND SRSF1 BETTER
An SRSF1 gene mutation diagnosis comes with more terminology than answers. You leave the geneticist's office with a report full of words you've never seen before, and no real sense of what comes next. We share what's known about SRSF1 haploinsufficiency in plain language, based on the handful of studies available so far. So you're not left trying to piece it together alone from medical journals.
GIVE HOPE THROUGH RESEARCH
SRSF1 was only identified as a cause of developmental disorders in 2023, and the science behind it is still catching up. We're only beginning to piece together how an SRSF1 mutation affects things like speech, motor development, and behavior. Every patient and their family’s experience adds to that understanding. Together, we can do our part to contribute to SRSF1 treatment research and development.