Dhindsa Lab Research Study
Advancing understanding of ITSN1 gene mutations
Help us find answers for ITSN1-related disorders
Researchers are working to understand how genetic variants in the ITSN1 gene affect the brain. Your participation is essential to move this science forward and help develop future treatments.
About ITSN1-mediated disease
Genetic variants in the ITSN1 gene have been linked to several neurological conditions.
In children, ITSN1 variants are associated with conditions like autism spectrum disorder, intellectual disability, and developmental regression (such as the loss of language skills).
In adults, variants in this same gene have been associated with Parkinson's disease.
Research is needed to understand why ITSN1 affects the brain at different stages of life. To move this science forward, we need your help.
About our study
Researchers at Baylor College of Medicine and Texas Children's Hospital are studying how ITSN1 variants influence brain development and function. By understanding how ITSN1 variants affect the brain, we hope to create a path toward developing new treatments. Participation involves:
- Sharing clinical information helps us understand the full range of health effects linked to ITSN1.
- Volunteering to donate specimens (either a blood draw or skin biopsy), which allow us to study how ITSN1 variants affect brain cells in the lab. This is a key step toward finding new treatments.
What the study involves
Remote Consent
A video call with our team to review the study details and provide consent to join.
Medical History
You would share medical records to help us understand the complete health picture for this condition.
Optional Blood Draw or Skin Biopsy
A sample allows us to create stem cells. We use these to study how ITSN1 variants change the way brain cells work.
Optional Family Participation
Involving family members helps us understand how the genetic variant is passed down in a family.
How to Learn More
To learn more about the study or to ask questions, please contact: