Research
Since its inception, the Joubert Syndrome & Related Disorders Foundation has worked closely with researchers investigating the causes and potential complications of Joubert Syndrome. Through its close connection with the foremost experts in genetics, developmental pediatrics, and other specialties, the JSRDF has been able to promote research and disseminate new findings about JS to individuals and families around the world.
Individuals with JS and their families have played an integral role in the research by providing blood, urine, and tissue samples, as well as intimate details of their lives, to investigators for numerous studies.
Many of the researchers are affiliated with research foundations, academic centers, or teaching hospitals.
- The Hindbrain Malformation Research Program at the University of Washington has made significant strides in identifying many of the genetic causes of JS. Review some of their publications and read about how to join their ongoing studies.
- The National Institutes of Health (NIH) encompasses 27 institutes and centers devoted to groundbreaking research. Researchers from several NIH institutes, including the National Eye Institute, the National Human Genome Research Institute, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute of Neurological Disorders and Stroke, and the National Institute of Diabetes and Digestive and Kidney Diseases have studied growth patterns, intellectual development, vision abnormalities, and liver dysfunction in individuals with JS.
- Across the ocean, Newcastle University, in Newcastle upon Tyne, England, is involved in JS research with an emphasis on kidney disease. Researchers at the Translational and Clinical Research Institute have discovered a modifier gene to explain the differences in kidney disease among individuals with JS.
It is noteworthy that research into JS has been conducted in many other countries around the world, including Canada, China, Iraq, Ireland, Italy, and Turkey. Our JS community is multilingual, multicultural, and spread across the world, yet united in experience and purpose.
Are you interested?
If you are interested in conducting and/or funding research related to JS, please reach out to info@jsrdf.org or contact one of our research partners directly.
If you are interested in enrolling in a research study related to JS, contact one of our research partners through their website or search for clinical trials.
